Protein:TCF7L2 |
Protein Summary |
Gene summary |
| Gene name: TCF7L2 | ASpdb.0 ID: 6934 | Gene | Gene symbol | TCF7L2 | Gene ID | 6934 |
| Gene name | transcription factor 7 like 2 |
| Synonyms | TCF-4|TCF4 |
| Cytomap | 10q25.2-q25.3 |
| Type of gene | protein-coding |
| Description | transcription factor 7-like 2HMG box transcription factor 4T-cell factor 4T-cell-specific transcription factor 4hTCF-4transcription factor 7-like 2 (T-cell specific, HMG-box) |
| Modification date | 20240413 |
| UniProtAcc | Q9NQB0 |
Gene ontology of this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Gene | TCF7L2 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 12799378 |
| Gene | TCF7L2 | GO:0000785 | chromatin | 19443654 |
| Gene | TCF7L2 | GO:0000976 | transcription cis-regulatory region binding | 20128911 |
| Gene | TCF7L2 | GO:0000978 | RNA polymerase II cis-regulatory region sequence-specific DNA binding | 19443654 |
| Gene | TCF7L2 | GO:0003700 | DNA-binding transcription factor activity | 9727977 |
| Gene | TCF7L2 | GO:0005634 | nucleus | 9065401|16532032|19304756|19386626 |
| Gene | TCF7L2 | GO:0005654 | nucleoplasm | 19168596 |
| Gene | TCF7L2 | GO:0006357 | regulation of transcription by RNA polymerase II | 9727977 |
| Gene | TCF7L2 | GO:0008013 | beta-catenin binding | 9065401 |
| Gene | TCF7L2 | GO:0032092 | positive regulation of protein binding | 12799378 |
| Gene | TCF7L2 | GO:0032350 | regulation of hormone metabolic process | 15525634 |
| Gene | TCF7L2 | GO:0032993 | protein-DNA complex | 14661054 |
| Gene | TCF7L2 | GO:0042593 | glucose homeostasis | 15525634 |
| Gene | TCF7L2 | GO:0043433 | negative regulation of DNA-binding transcription factor activity | 12799378 |
| Gene | TCF7L2 | GO:0043565 | sequence-specific DNA binding | 14661054 |
| Gene | TCF7L2 | GO:0045444 | fat cell differentiation | 10937998 |
| Gene | TCF7L2 | GO:0045892 | negative regulation of DNA-templated transcription | 12799378|15525634 |
| Gene | TCF7L2 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 9065401|19168596 |
| Gene | TCF7L2 | GO:0048625 | myoblast fate commitment | 10937998 |
| Gene | TCF7L2 | GO:0070369 | beta-catenin-TCF7L2 complex | 9065401|9065402 |
AS Summary |
Information of the canonical protein with experimentally identified structure from PDB (2023). |
| UniProt Acc | File name | PDB ID | Method | Resolution | Chain | Start | End |
| Q9NQB0-1 | Q9NQB0-1_2gl7_B.pdb | 2GL7 | X-ray | 2.6 | B | 12 | 50 |
ASpdb's canonical and alternatively spliced isoform information. |
| accession_id | gene_name | canonical_id | alternative_id | canonical_length | alternative_length | canonical_start | canonical_end | type | originalSEQ | variationSEQ | alternative_start | alternative_end |
| Q9NQB0 | TCF7L2 | Q9NQB0-1 | Q9NQB0-10 | 619 | 455 | 128 | 150 | Deletion | none | none | 127 | 127 |
| Q9NQB0 | TCF7L2 | Q9NQB0-1 | Q9NQB0-10 | 619 | 455 | 260 | 263 | Deletion | none | none | 236 | 236 |
| Q9NQB0 | TCF7L2 | Q9NQB0-1 | Q9NQB0-10 | 619 | 455 | 457 | 482 | Substitution | DLSAPKKCRARFGLDQQNNWCGPCRR | GEKKSAFATYKVKAAASAHPLQMEAY | 430 | 455 |
| Q9NQB0 | TCF7L2 | Q9NQB0-1 | Q9NQB0-10 | 619 | 455 | 483 | 619 | Deletion | none | none | 455 | 455 |
| Q9NQB0 | TCF7L2 | Q9NQB0-1 | Q9NQB0-11 | 619 | 489 | 128 | 150 | Deletion | none | none | 127 | 127 |
| Q9NQB0 | TCF7L2 | Q9NQB0-1 | Q9NQB0-11 | 619 | 489 | 184 | 184 | Substitution | V | VSPLPCCTQGHDCQHFYPPSDFTVSTQVFRDMKRSHSLQKVGEPWCIE | 161 | 208 |
| Q9NQB0 | TCF7L2 | Q9NQB0-1 | Q9NQB0-11 | 619 | 489 | 440 | 465 | Substitution | EHSECFLNPCLSLPPITDLSAPKKCR | GEKKSAFATYKVKAAASAHPLQMEAY | 464 | 489 |
| Q9NQB0 | TCF7L2 | Q9NQB0-1 | Q9NQB0-11 | 619 | 489 | 466 | 619 | Deletion | none | none | 489 | 489 |
| Q9NQB0 | TCF7L2 | Q9NQB0-1 | Q9NQB0-12 | 619 | 459 | 128 | 150 | Deletion | none | none | 127 | 127 |
| Q9NQB0 | TCF7L2 | Q9NQB0-1 | Q9NQB0-12 | 619 | 459 | 481 | 619 | Substitution | RRKKKCVRYIQGEGSCLSPPSSDGSLLDSPPPSPNLLGSPPRDAKSQTEQTQPLSLSLKPDPLAHLSMMPPPPALLLAEATHKASALCPNGALDLPPAALQPAAPSSSIAQPSTSSLHSHSSLAGTQPQPLSLVTKSLE | SL | 458 | 459 |
| Q9NQB0 | TCF7L2 | Q9NQB0-1 | Q9NQB0-14 | 619 | 442 | 128 | 150 | Deletion | none | none | 127 | 127 |
| Q9NQB0 | TCF7L2 | Q9NQB0-1 | Q9NQB0-14 | 619 | 442 | 440 | 465 | Substitution | EHSECFLNPCLSLPPITDLSAPKKCR | GEKKSAFATYKVKAAASAHPLQMEAY | 417 | 442 |
| Q9NQB0 | TCF7L2 | Q9NQB0-1 | Q9NQB0-14 | 619 | 442 | 466 | 619 | Deletion | none | none | 442 | 442 |
| Q9NQB0 | TCF7L2 | Q9NQB0-1 | Q9NQB0-15 | 619 | 447 | 128 | 150 | Deletion | none | none | 127 | 127 |
| Q9NQB0 | TCF7L2 | Q9NQB0-1 | Q9NQB0-15 | 619 | 447 | 290 | 290 | Substitution | M | MSSFLS | 267 | 272 |
| Q9NQB0 | TCF7L2 | Q9NQB0-1 | Q9NQB0-15 | 619 | 447 | 440 | 465 | Substitution | EHSECFLNPCLSLPPITDLSAPKKCR | GEKKSAFATYKVKAAASAHPLQMEAY | 422 | 447 |
| Q9NQB0 | TCF7L2 | Q9NQB0-1 | Q9NQB0-15 | 619 | 447 | 466 | 619 | Deletion | none | none | 447 | 447 |
| Q9NQB0 | TCF7L2 | Q9NQB0-1 | Q9NQB0-17 | 619 | 335 | 1 | 6 | Substitution | MPQLNG | MSSFLS | 1 | 6 |
| Q9NQB0 | TCF7L2 | Q9NQB0-1 | Q9NQB0-17 | 619 | 335 | 7 | 290 | Deletion | none | none | 6 | 6 |
| Q9NQB0 | TCF7L2 | Q9NQB0-1 | Q9NQB0-2 | 619 | 494 | 482 | 494 | Substitution | RKKKCVRYIQGEG | CKYSKEVSGTVRA | 482 | 494 |
| Q9NQB0 | TCF7L2 | Q9NQB0-1 | Q9NQB0-2 | 619 | 494 | 495 | 619 | Deletion | none | none | 494 | 494 |
| Q9NQB0 | TCF7L2 | Q9NQB0-1 | Q9NQB0-6 | 619 | 482 | 457 | 619 | Substitution | DLSAPKKCRARFGLDQQNNWCGPCRRKKKCVRYIQGEGSCLSPPSSDGSLLDSPPPSPNLLGSPPRDAKSQTEQTQPLSLSLKPDPLAHLSMMPPPPALLLAEATHKASALCPNGALDLPPAALQPAAPSSSIAQPSTSSLHSHSSLAGTQPQPLSLVTKSLE | GEKKSAFATYKVKAAASAHPLQMEAY | 457 | 482 |
| Q9NQB0 | TCF7L2 | Q9NQB0-1 | Q9NQB0-7 | 619 | 602 | 440 | 456 | Deletion | none | none | 439 | 439 |
| Q9NQB0 | TCF7L2 | Q9NQB0-1 | Q9NQB0-7 | 619 | 602 | 457 | 478 | Substitution | DLSAPKKCRARFGLDQQNNWCG | DANTPKKCRALFGLDRQTLWCK | 440 | 461 |
| Q9NQB0 | TCF7L2 | Q9NQB0-1 | Q9NQB0-8 | 619 | 596 | 128 | 150 | Deletion | none | none | 127 | 127 |
| Q9NQB0 | TCF7L2 | Q9NQB0-1 | Q9NQB0-9 | 619 | 465 | 440 | 465 | Substitution | EHSECFLNPCLSLPPITDLSAPKKCR | GEKKSAFATYKVKAAASAHPLQMEAY | 440 | 465 |
| Q9NQB0 | TCF7L2 | Q9NQB0-1 | Q9NQB0-9 | 619 | 465 | 466 | 619 | Deletion | none | none | 465 | 465 |
Multiple sequence alignment of our canonical and alternatively spliced TCF7L2 |
Matched gene isoform IDs with Ensembl and RefSeq of our canonical and alternative spliced genes of TCF7L2 |
| UniProt-id | ENSG | ENST | ENSP |
| Q9NQB0-1 | ENSG00000148737.18 | ENST00000355995.9 | ENSP00000348274.4 |
| Q9NQB0-11 | ENSG00000148737.18 | ENST00000355717.9 | ENSP00000347949.4 |
| Q9NQB0-12 | ENSG00000148737.18 | ENST00000352065.10 | ENSP00000344823.5 |
| Q9NQB0-6 | ENSG00000148737.18 | ENST00000538897.5 | ENSP00000446172.1 |
| Q9NQB0-7 | ENSG00000148737.18 | ENST00000627217.3 | ENSP00000486891.1 |
| Q9NQB0-8 | ENSG00000148737.18 | ENST00000369397.8 | ENSP00000358404.4 |
| UniProt-id | NM ID | NP ID |
| Q9NQB0-10 | NM_001146284.1 | NP_001139756.1 |
| Q9NQB0-11 | NM_001146283.1 | NP_001139755.1 |
| Q9NQB0-12 | NM_001198528.1 | NP_001185457.1 |
| Q9NQB0-14 | NM_001146286.1 | NP_001139758.1 |
| Q9NQB0-7 | NM_001146274.1 | NP_001139746.1 |
| Q9NQB0-9 | NM_001198531.1 | NP_001185460.1 |
Amino acid sequences of our canonical and alternatively spliced TCF7L2 |
| accession_id | Protein sequence |
| Q9NQB0-1 | MPQLNGGGGDDLGANDELISFKDEGEQEEKSSENSSAERDLADVKSSLVNESETNQNSSSDSEAERRPPPRSESFRDKSRESLEEAAKRQ DGGLFKGPPYPGYPFIMIPDLTSPYLPNGSLSPTARTLHFQSGSTHYSAYKTIEHQIAVQYLQMKWPLLDVQAGSLQSRQALKDARSPSP AHIVSNKVPVVQHPHHVHPLTPLITYSNEHFTPGNPPPHLPADVDPKTGIPRPPHPPDISPYYPLSPGTVGQIPHPLGWLVPQQGQPVYP ITTGGFRHPYPTALTVNASMSRFPPHMVPPHHTLHTTGIPHPAIVTPTVKQESSQSDVGSLHSSKHQDSKKEEEKKKPHIKKPLNAFMLY MKEMRAKVVAECTLKESAAINQILGRRWHALSREEQAKYYELARKERQLHMQLYPGWSARDNYGKKKKRKRDKQPGETNEHSECFLNPCL SLPPITDLSAPKKCRARFGLDQQNNWCGPCRRKKKCVRYIQGEGSCLSPPSSDGSLLDSPPPSPNLLGSPPRDAKSQTEQTQPLSLSLKP |
| Q9NQB0-10 | MPQLNGGGGDDLGANDELISFKDEGEQEEKSSENSSAERDLADVKSSLVNESETNQNSSSDSEAERRPPPRSESFRDKSRESLEEAAKRQ DGGLFKGPPYPGYPFIMIPDLTSPYLPNGSLSPTARTYLQMKWPLLDVQAGSLQSRQALKDARSPSPAHIVSNKVPVVQHPHHVHPLTPL ITYSNEHFTPGNPPPHLPADVDPKTGIPRPPHPPDISPYYPLSPGTVGQIPHPLGWQGQPVYPITTGGFRHPYPTALTVNASMSRFPPHM VPPHHTLHTTGIPHPAIVTPTVKQESSQSDVGSLHSSKHQDSKKEEEKKKPHIKKPLNAFMLYMKEMRAKVVAECTLKESAAINQILGRR WHALSREEQAKYYELARKERQLHMQLYPGWSARDNYGKKKKRKRDKQPGETNEHSECFLNPCLSLPPITGEKKSAFATYKVKAAASAHPL |
| Q9NQB0-11 | MPQLNGGGGDDLGANDELISFKDEGEQEEKSSENSSAERDLADVKSSLVNESETNQNSSSDSEAERRPPPRSESFRDKSRESLEEAAKRQ DGGLFKGPPYPGYPFIMIPDLTSPYLPNGSLSPTARTYLQMKWPLLDVQAGSLQSRQALKDARSPSPAHIVSPLPCCTQGHDCQHFYPPS DFTVSTQVFRDMKRSHSLQKVGEPWCIESNKVPVVQHPHHVHPLTPLITYSNEHFTPGNPPPHLPADVDPKTGIPRPPHPPDISPYYPLS PGTVGQIPHPLGWLVPQQGQPVYPITTGGFRHPYPTALTVNASMSRFPPHMVPPHHTLHTTGIPHPAIVTPTVKQESSQSDVGSLHSSKH QDSKKEEEKKKPHIKKPLNAFMLYMKEMRAKVVAECTLKESAAINQILGRRWHALSREEQAKYYELARKERQLHMQLYPGWSARDNYGKK |
| Q9NQB0-12 | MPQLNGGGGDDLGANDELISFKDEGEQEEKSSENSSAERDLADVKSSLVNESETNQNSSSDSEAERRPPPRSESFRDKSRESLEEAAKRQ DGGLFKGPPYPGYPFIMIPDLTSPYLPNGSLSPTARTYLQMKWPLLDVQAGSLQSRQALKDARSPSPAHIVSNKVPVVQHPHHVHPLTPL ITYSNEHFTPGNPPPHLPADVDPKTGIPRPPHPPDISPYYPLSPGTVGQIPHPLGWLVPQQGQPVYPITTGGFRHPYPTALTVNASMSRF PPHMVPPHHTLHTTGIPHPAIVTPTVKQESSQSDVGSLHSSKHQDSKKEEEKKKPHIKKPLNAFMLYMKEMRAKVVAECTLKESAAINQI LGRRWHALSREEQAKYYELARKERQLHMQLYPGWSARDNYGKKKKRKRDKQPGETNEHSECFLNPCLSLPPITDLSAPKKCRARFGLDQQ |
| Q9NQB0-14 | MPQLNGGGGDDLGANDELISFKDEGEQEEKSSENSSAERDLADVKSSLVNESETNQNSSSDSEAERRPPPRSESFRDKSRESLEEAAKRQ DGGLFKGPPYPGYPFIMIPDLTSPYLPNGSLSPTARTYLQMKWPLLDVQAGSLQSRQALKDARSPSPAHIVSNKVPVVQHPHHVHPLTPL ITYSNEHFTPGNPPPHLPADVDPKTGIPRPPHPPDISPYYPLSPGTVGQIPHPLGWLVPQQGQPVYPITTGGFRHPYPTALTVNASMSRF PPHMVPPHHTLHTTGIPHPAIVTPTVKQESSQSDVGSLHSSKHQDSKKEEEKKKPHIKKPLNAFMLYMKEMRAKVVAECTLKESAAINQI |
| Q9NQB0-15 | MPQLNGGGGDDLGANDELISFKDEGEQEEKSSENSSAERDLADVKSSLVNESETNQNSSSDSEAERRPPPRSESFRDKSRESLEEAAKRQ DGGLFKGPPYPGYPFIMIPDLTSPYLPNGSLSPTARTYLQMKWPLLDVQAGSLQSRQALKDARSPSPAHIVSNKVPVVQHPHHVHPLTPL ITYSNEHFTPGNPPPHLPADVDPKTGIPRPPHPPDISPYYPLSPGTVGQIPHPLGWLVPQQGQPVYPITTGGFRHPYPTALTVNASMSSF LSSRFPPHMVPPHHTLHTTGIPHPAIVTPTVKQESSQSDVGSLHSSKHQDSKKEEEKKKPHIKKPLNAFMLYMKEMRAKVVAECTLKESA |
| Q9NQB0-17 | MSSFLSSRFPPHMVPPHHTLHTTGIPHPAIVTPTVKQESSQSDVGSLHSSKHQDSKKEEEKKKPHIKKPLNAFMLYMKEMRAKVVAECTL KESAAINQILGRRWHALSREEQAKYYELARKERQLHMQLYPGWSARDNYGKKKKRKRDKQPGETNEHSECFLNPCLSLPPITDLSAPKKC RARFGLDQQNNWCGPCRRKKKCVRYIQGEGSCLSPPSSDGSLLDSPPPSPNLLGSPPRDAKSQTEQTQPLSLSLKPDPLAHLSMMPPPPA |
| Q9NQB0-2 | MPQLNGGGGDDLGANDELISFKDEGEQEEKSSENSSAERDLADVKSSLVNESETNQNSSSDSEAERRPPPRSESFRDKSRESLEEAAKRQ DGGLFKGPPYPGYPFIMIPDLTSPYLPNGSLSPTARTLHFQSGSTHYSAYKTIEHQIAVQYLQMKWPLLDVQAGSLQSRQALKDARSPSP AHIVSNKVPVVQHPHHVHPLTPLITYSNEHFTPGNPPPHLPADVDPKTGIPRPPHPPDISPYYPLSPGTVGQIPHPLGWLVPQQGQPVYP ITTGGFRHPYPTALTVNASMSRFPPHMVPPHHTLHTTGIPHPAIVTPTVKQESSQSDVGSLHSSKHQDSKKEEEKKKPHIKKPLNAFMLY MKEMRAKVVAECTLKESAAINQILGRRWHALSREEQAKYYELARKERQLHMQLYPGWSARDNYGKKKKRKRDKQPGETNEHSECFLNPCL |
| Q9NQB0-6 | MPQLNGGGGDDLGANDELISFKDEGEQEEKSSENSSAERDLADVKSSLVNESETNQNSSSDSEAERRPPPRSESFRDKSRESLEEAAKRQ DGGLFKGPPYPGYPFIMIPDLTSPYLPNGSLSPTARTLHFQSGSTHYSAYKTIEHQIAVQYLQMKWPLLDVQAGSLQSRQALKDARSPSP AHIVSNKVPVVQHPHHVHPLTPLITYSNEHFTPGNPPPHLPADVDPKTGIPRPPHPPDISPYYPLSPGTVGQIPHPLGWLVPQQGQPVYP ITTGGFRHPYPTALTVNASMSRFPPHMVPPHHTLHTTGIPHPAIVTPTVKQESSQSDVGSLHSSKHQDSKKEEEKKKPHIKKPLNAFMLY MKEMRAKVVAECTLKESAAINQILGRRWHALSREEQAKYYELARKERQLHMQLYPGWSARDNYGKKKKRKRDKQPGETNEHSECFLNPCL |
| Q9NQB0-7 | MPQLNGGGGDDLGANDELISFKDEGEQEEKSSENSSAERDLADVKSSLVNESETNQNSSSDSEAERRPPPRSESFRDKSRESLEEAAKRQ DGGLFKGPPYPGYPFIMIPDLTSPYLPNGSLSPTARTLHFQSGSTHYSAYKTIEHQIAVQYLQMKWPLLDVQAGSLQSRQALKDARSPSP AHIVSNKVPVVQHPHHVHPLTPLITYSNEHFTPGNPPPHLPADVDPKTGIPRPPHPPDISPYYPLSPGTVGQIPHPLGWLVPQQGQPVYP ITTGGFRHPYPTALTVNASMSRFPPHMVPPHHTLHTTGIPHPAIVTPTVKQESSQSDVGSLHSSKHQDSKKEEEKKKPHIKKPLNAFMLY MKEMRAKVVAECTLKESAAINQILGRRWHALSREEQAKYYELARKERQLHMQLYPGWSARDNYGKKKKRKRDKQPGETNDANTPKKCRAL FGLDRQTLWCKPCRRKKKCVRYIQGEGSCLSPPSSDGSLLDSPPPSPNLLGSPPRDAKSQTEQTQPLSLSLKPDPLAHLSMMPPPPALLL |
| Q9NQB0-8 | MPQLNGGGGDDLGANDELISFKDEGEQEEKSSENSSAERDLADVKSSLVNESETNQNSSSDSEAERRPPPRSESFRDKSRESLEEAAKRQ DGGLFKGPPYPGYPFIMIPDLTSPYLPNGSLSPTARTYLQMKWPLLDVQAGSLQSRQALKDARSPSPAHIVSNKVPVVQHPHHVHPLTPL ITYSNEHFTPGNPPPHLPADVDPKTGIPRPPHPPDISPYYPLSPGTVGQIPHPLGWLVPQQGQPVYPITTGGFRHPYPTALTVNASMSRF PPHMVPPHHTLHTTGIPHPAIVTPTVKQESSQSDVGSLHSSKHQDSKKEEEKKKPHIKKPLNAFMLYMKEMRAKVVAECTLKESAAINQI LGRRWHALSREEQAKYYELARKERQLHMQLYPGWSARDNYGKKKKRKRDKQPGETNEHSECFLNPCLSLPPITDLSAPKKCRARFGLDQQ NNWCGPCRRKKKCVRYIQGEGSCLSPPSSDGSLLDSPPPSPNLLGSPPRDAKSQTEQTQPLSLSLKPDPLAHLSMMPPPPALLLAEATHK |
| Q9NQB0-9 | MPQLNGGGGDDLGANDELISFKDEGEQEEKSSENSSAERDLADVKSSLVNESETNQNSSSDSEAERRPPPRSESFRDKSRESLEEAAKRQ DGGLFKGPPYPGYPFIMIPDLTSPYLPNGSLSPTARTLHFQSGSTHYSAYKTIEHQIAVQYLQMKWPLLDVQAGSLQSRQALKDARSPSP AHIVSNKVPVVQHPHHVHPLTPLITYSNEHFTPGNPPPHLPADVDPKTGIPRPPHPPDISPYYPLSPGTVGQIPHPLGWLVPQQGQPVYP ITTGGFRHPYPTALTVNASMSRFPPHMVPPHHTLHTTGIPHPAIVTPTVKQESSQSDVGSLHSSKHQDSKKEEEKKKPHIKKPLNAFMLY MKEMRAKVVAECTLKESAAINQILGRRWHALSREEQAKYYELARKERQLHMQLYPGWSARDNYGKKKKRKRDKQPGETNGEKKSAFATYK |
Protein Functional Features |
Main function of this protein. (from UniProt) |
| TCF7L2 (go to UniProt):Q9NQB0 |
Retention analysis result of protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at * Minus value of BPloci means that the break pointn is located before the CDS. |
| - Retained protein feature among the 13 regional features. |
| Accession_id | Subsection | Start | End | Funcitonal feature | Splicing information |
| Q9NQB0 | Region | 1 | 96 | Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Substitution;Start=1;End=6 |
| Q9NQB0 | Region | 1 | 96 | Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Deletion;Start=7;End=290 |
| Q9NQB0 | Region | 1 | 53 | Note=CTNNB1-binding;Ontology_term=ECO:0000250;evidence=ECO:0000250 | Type=Substitution;Start=1;End=6 |
| Q9NQB0 | Region | 1 | 53 | Note=CTNNB1-binding;Ontology_term=ECO:0000250;evidence=ECO:0000250 | Type=Deletion;Start=7;End=290 |
| Q9NQB0 | Region | 201 | 395 | Note=Mediates interaction with MAD2L2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19443654;Dbxref=PMID:19443654 | Type=Deletion;Start=260;End=263 |
| Q9NQB0 | Region | 201 | 395 | Note=Mediates interaction with MAD2L2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19443654;Dbxref=PMID:19443654 | Type=Substitution;Start=290;End=290 |
| Q9NQB0 | Region | 201 | 395 | Note=Mediates interaction with MAD2L2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19443654;Dbxref=PMID:19443654 | Type=Deletion;Start=7;End=290 |
| Q9NQB0 | Region | 420 | 441 | Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Substitution;Start=440;End=465 |
| Q9NQB0 | Region | 420 | 441 | Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Substitution;Start=440;End=465 |
| Q9NQB0 | Region | 420 | 441 | Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Substitution;Start=440;End=465 |
| Q9NQB0 | Region | 420 | 441 | Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Deletion;Start=440;End=456 |
| Q9NQB0 | Region | 420 | 441 | Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Substitution;Start=440;End=465 |
| Q9NQB0 | Region | 459 | 505 | Note=Promoter-specific activation domain | Type=Substitution;Start=457;End=482 |
| Q9NQB0 | Region | 459 | 505 | Note=Promoter-specific activation domain | Type=Deletion;Start=483;End=619 |
| Q9NQB0 | Region | 459 | 505 | Note=Promoter-specific activation domain | Type=Substitution;Start=440;End=465 |
| Q9NQB0 | Region | 459 | 505 | Note=Promoter-specific activation domain | Type=Deletion;Start=466;End=619 |
| Q9NQB0 | Region | 459 | 505 | Note=Promoter-specific activation domain | Type=Substitution;Start=481;End=619 |
| Q9NQB0 | Region | 459 | 505 | Note=Promoter-specific activation domain | Type=Substitution;Start=440;End=465 |
| Q9NQB0 | Region | 459 | 505 | Note=Promoter-specific activation domain | Type=Deletion;Start=466;End=619 |
| Q9NQB0 | Region | 459 | 505 | Note=Promoter-specific activation domain | Type=Substitution;Start=440;End=465 |
| Q9NQB0 | Region | 459 | 505 | Note=Promoter-specific activation domain | Type=Deletion;Start=466;End=619 |
| Q9NQB0 | Region | 459 | 505 | Note=Promoter-specific activation domain | Type=Substitution;Start=482;End=494 |
| Q9NQB0 | Region | 459 | 505 | Note=Promoter-specific activation domain | Type=Deletion;Start=495;End=619 |
| Q9NQB0 | Region | 459 | 505 | Note=Promoter-specific activation domain | Type=Substitution;Start=457;End=619 |
| Q9NQB0 | Region | 459 | 505 | Note=Promoter-specific activation domain | Type=Substitution;Start=457;End=478 |
| Q9NQB0 | Region | 459 | 505 | Note=Promoter-specific activation domain | Type=Substitution;Start=440;End=465 |
| Q9NQB0 | Region | 459 | 505 | Note=Promoter-specific activation domain | Type=Deletion;Start=466;End=619 |
| Q9NQB0 | Region | 496 | 547 | Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Deletion;Start=483;End=619 |
| Q9NQB0 | Region | 496 | 547 | Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Deletion;Start=466;End=619 |
| Q9NQB0 | Region | 496 | 547 | Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Substitution;Start=481;End=619 |
| Q9NQB0 | Region | 496 | 547 | Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Deletion;Start=466;End=619 |
| Q9NQB0 | Region | 496 | 547 | Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Deletion;Start=466;End=619 |
| Q9NQB0 | Region | 496 | 547 | Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Deletion;Start=495;End=619 |
| Q9NQB0 | Region | 496 | 547 | Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Substitution;Start=457;End=619 |
| Q9NQB0 | Region | 496 | 547 | Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Deletion;Start=466;End=619 |
| Q9NQB0 | Region | 574 | 619 | Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Deletion;Start=483;End=619 |
| Q9NQB0 | Region | 574 | 619 | Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Deletion;Start=466;End=619 |
| Q9NQB0 | Region | 574 | 619 | Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Substitution;Start=481;End=619 |
| Q9NQB0 | Region | 574 | 619 | Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Deletion;Start=466;End=619 |
| Q9NQB0 | Region | 574 | 619 | Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Deletion;Start=466;End=619 |
| Q9NQB0 | Region | 574 | 619 | Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Deletion;Start=495;End=619 |
| Q9NQB0 | Region | 574 | 619 | Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Substitution;Start=457;End=619 |
| Q9NQB0 | Region | 574 | 619 | Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Deletion;Start=466;End=619 |
| Q9NQB0 | Compositional bias | 16 | 46 | Note=Basic and acidic residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Deletion;Start=7;End=290 |
| Q9NQB0 | Compositional bias | 47 | 63 | Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Deletion;Start=7;End=290 |
| Q9NQB0 | Compositional bias | 64 | 91 | Note=Basic and acidic residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Deletion;Start=7;End=290 |
| Q9NQB0 | Compositional bias | 520 | 537 | Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Deletion;Start=483;End=619 |
| Q9NQB0 | Compositional bias | 520 | 537 | Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Deletion;Start=466;End=619 |
| Q9NQB0 | Compositional bias | 520 | 537 | Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Substitution;Start=481;End=619 |
| Q9NQB0 | Compositional bias | 520 | 537 | Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Deletion;Start=466;End=619 |
| Q9NQB0 | Compositional bias | 520 | 537 | Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Deletion;Start=466;End=619 |
| Q9NQB0 | Compositional bias | 520 | 537 | Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Deletion;Start=495;End=619 |
| Q9NQB0 | Compositional bias | 520 | 537 | Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Substitution;Start=457;End=619 |
| Q9NQB0 | Compositional bias | 520 | 537 | Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Deletion;Start=466;End=619 |
| Q9NQB0 | Compositional bias | 584 | 619 | Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Deletion;Start=483;End=619 |
| Q9NQB0 | Compositional bias | 584 | 619 | Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Deletion;Start=466;End=619 |
| Q9NQB0 | Compositional bias | 584 | 619 | Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Substitution;Start=481;End=619 |
| Q9NQB0 | Compositional bias | 584 | 619 | Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Deletion;Start=466;End=619 |
| Q9NQB0 | Compositional bias | 584 | 619 | Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Deletion;Start=466;End=619 |
| Q9NQB0 | Compositional bias | 584 | 619 | Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Deletion;Start=495;End=619 |
| Q9NQB0 | Compositional bias | 584 | 619 | Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Substitution;Start=457;End=619 |
| Q9NQB0 | Compositional bias | 584 | 619 | Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Deletion;Start=466;End=619 |
Gene Isoform Structures and Expression Levels for TCF7L2 |
Gene structures of our canonical and alternative spliced genes of TCF7L2* Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
Expression levels of gene isoforms across GTEx. |
Expression levels of gene isoforms across TCGA. |
Protein Structures |
PDB and CIF files of the predicted protein structures * Here we show the 3D structure of the proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format. |
| 3D view using mol* of Q9NQB0-1 |
| 3D view using mol* of Q9NQB0-10 |
| 3D view using mol* of Q9NQB0-11 |
| 3D view using mol* of Q9NQB0-12 |
| 3D view using mol* of Q9NQB0-14 |
| 3D view using mol* of Q9NQB0-15 |
| 3D view using mol* of Q9NQB0-17 |
| 3D view using mol* of Q9NQB0-2 |
| 3D view using mol* of Q9NQB0-6 |
| 3D view using mol* of Q9NQB0-7 |
| 3D view using mol* of Q9NQB0-8 |
| 3D view using mol* of Q9NQB0-9 |
pLDDT Score Distribution |
pLDDT score distribution of the predicted protein structures from AlphaFold2* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. |
Ramachandran Plot of Protein Structures |
Ramachandran plot of the torsional angles - phi (φ)and psi (ψ) - of the residues (amino acids) contained in this protein peptide. |
Potential Active Site Information |
The potential binding sites of these proteins were identified using SiteMap, a module of the Schrodinger suite. |
| UniProt-id | Site score | Size | D score | Volume | Exposure | Enclosure | Contact | Phobic | Philic | Balance | Don/Acc | Residues |
| Q9NQB0-1 | 1.034 | 92 | 1.101 | 179.732 | 0.528 | 0.675 | 0.907 | 1.444 | 0.629 | 2.298 | 0.41 | 41,44,45,47,48,49,52,371,372,373,374,379,382,383,3 86,387 |
| Q9NQB0-10 | 0.736 | 48 | 0.706 | 194.138 | 0.625 | 0.621 | 0.862 | 0.306 | 0.974 | 0.314 | 1.611 | 317,318,320,321,322,323,387,389,390,391,394,395,39 6,398,399 |
| Q9NQB0-11 | 0.727 | 48 | 0.636 | 159.152 | 0.68 | 0.627 | 0.851 | 0.103 | 1.201 | 0.086 | 0.848 | 368,369,371,372,373,374,440,441,442,445,446,447,44 9,450 |
| Q9NQB0-12 | 0.832 | 66 | 0.824 | 203.399 | 0.607 | 0.637 | 0.879 | 0.39 | 0.986 | 0.396 | 1.079 | 318,319,320,321,322,324,325,326,327,391,394,395,39 8,399,400,402,403 |
| Q9NQB0-14 | 0.822 | 68 | 0.829 | 192.423 | 0.651 | 0.59 | 0.775 | 0.377 | 0.92 | 0.41 | 0.9 | 321,322,324,325,326,327,391,392,393,394,395,398,39 9,400,402,403 |
| Q9NQB0-15 | 0.775 | 57 | 0.769 | 192.08 | 0.661 | 0.591 | 0.811 | 0.238 | 0.904 | 0.264 | 1.451 | 326,327,329,330,331,332,396,398,399,400,403,404,40 5,407,408 |
| Q9NQB0-17 | 0.809 | 63 | 0.811 | 185.906 | 0.691 | 0.597 | 0.809 | 0.32 | 0.9 | 0.355 | 0.667 | 61,62,63,64,65,66,67,68,130,133,137,138,139,140,14 1,142 |
| Q9NQB0-2 | 0.824 | 69 | 0.834 | 232.897 | 0.732 | 0.581 | 0.711 | 0.249 | 0.908 | 0.274 | 0.831 | 143,146,147,150,352,353,354,355,358,359,362,400,40 3,404,406,407,409,410 |
| Q9NQB0-6 | 1.084 | 112 | 1.166 | 259.994 | 0.491 | 0.69 | 0.943 | 1.661 | 0.577 | 2.878 | 0.56 | 37,40,41,44,45,47,48,49,371,372,374,379,382,383,38 6,387,390 |
| Q9NQB0-7 | 1.018 | 81 | 1.088 | 192.766 | 0.509 | 0.686 | 0.923 | 1.828 | 0.521 | 3.508 | 0.989 | 41,44,45,48,49,368,371,372,373,374,379,382,383,386 ,387 |
| Q9NQB0-8 | 0.787 | 57 | 0.779 | 99.813 | 0.562 | 0.612 | 0.908 | 0.658 | 0.912 | 0.721 | 1.456 | 440,441,442,453,457,458,460,461,462,463,466,468,47 0 |
| Q9NQB0-9 | 0.916 | 70 | 0.872 | 183.505 | 0.51 | 0.751 | 1.026 | 0.762 | 1.12 | 0.68 | 0.596 | 139,142,143,146,147,150,151,154,349,350,351,354,35 9,362,363,406,410,414 |
Protein Structure and Feature Comparision |
Protein Structure Comparision Using Template Modeling Scores (TM-score). |
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Protein Structure Comparision Visualization with mol*. between Canonical predicted structure (AF2)(orange) vs Canonical validated structure (PDB)(green) |
| 3D view using mol* of Q9NQB0-1_Q9NQB0-1_2gl7_B.pdb |
Protein Structure Comparision Visualization with mol*. between Canonical validated structure (PDB)(orange) vs Alternative predicted structure (AF2)(green) |
| 3D view using mol* of Q9NQB0-1_2gl7_B_Q9NQB0-10.pdb |
| 3D view using mol* of Q9NQB0-1_2gl7_B_Q9NQB0-11.pdb |
| 3D view using mol* of Q9NQB0-1_2gl7_B_Q9NQB0-12.pdb |
| 3D view using mol* of Q9NQB0-1_2gl7_B_Q9NQB0-14.pdb |
| 3D view using mol* of Q9NQB0-1_2gl7_B_Q9NQB0-15.pdb |
| 3D view using mol* of Q9NQB0-1_2gl7_B_Q9NQB0-17.pdb |
| 3D view using mol* of Q9NQB0-1_2gl7_B_Q9NQB0-2.pdb |
| 3D view using mol* of Q9NQB0-1_2gl7_B_Q9NQB0-6.pdb |
| 3D view using mol* of Q9NQB0-1_2gl7_B_Q9NQB0-7.pdb |
| 3D view using mol* of Q9NQB0-1_2gl7_B_Q9NQB0-8.pdb |
| 3D view using mol* of Q9NQB0-1_2gl7_B_Q9NQB0-9.pdb |
Protein Structure Comparision Visualization with mol*. between Canonical predicted structure (AF2)(orange) vs Alternative predicted structure (AF2)(green) |
| 3D view using mol* of Q9NQB0-1_Q9NQB0-10.pdb |
| 3D view using mol* of Q9NQB0-1_Q9NQB0-11.pdb |
| 3D view using mol* of Q9NQB0-1_Q9NQB0-12.pdb |
| 3D view using mol* of Q9NQB0-1_Q9NQB0-14.pdb |
| 3D view using mol* of Q9NQB0-1_Q9NQB0-15.pdb |
| 3D view using mol* of Q9NQB0-1_Q9NQB0-17.pdb |
| 3D view using mol* of Q9NQB0-1_Q9NQB0-2.pdb |
| 3D view using mol* of Q9NQB0-1_Q9NQB0-6.pdb |
| 3D view using mol* of Q9NQB0-1_Q9NQB0-7.pdb |
| 3D view using mol* of Q9NQB0-1_Q9NQB0-8.pdb |
| 3D view using mol* of Q9NQB0-1_Q9NQB0-9.pdb |
Protein Feature Comparison of the protein sequendary structures among the protiens. |
Protein Feature Comparison of the relative accessible surface area (ASA) among the protiens. |
Protein-Protein Interaction |
Interactors from UniProt. |
| Accession_id | Subsection | Start | End | Funcitonal feature | Splicing information |
| Q9NQB0 | Region | 201 | 395 | Note=Mediates interaction with MAD2L2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19443654;Dbxref=PMID:19443654 | Type=Deletion;Start=260;End=263 |
| Q9NQB0 | Region | 201 | 395 | Note=Mediates interaction with MAD2L2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19443654;Dbxref=PMID:19443654 | Type=Substitution;Start=290;End=290 |
| Q9NQB0 | Region | 201 | 395 | Note=Mediates interaction with MAD2L2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19443654;Dbxref=PMID:19443654 | Type=Deletion;Start=7;End=290 |
Interactors from STRING. |
| Gene name | Interactors |
Related Drugs to TCF7L2 |
Drugs targeting this gene/protein. (DrugBank) |
| UniProt accession | Gene name | DrugBank ID | Drug name | Drug group | Actions |
Related Diseases to TCF7L2 |
Previous studies relating to the alternative splicing of TCF7L2 and disease information from the MeSH term (PubMed) |
| Gene | PMID | Title | Abstract | MeSH ID | MeSH term |
| TCF7L2 | 16230076 | Beta-catenin interacts with the FUS proto-oncogene product and regulates pre-mRNA splicing. | beta-Catenin is a downstream effector of the Wnt signaling pathway and is believed to exert its oncogenic function by activating T-cell factor (TCF)/lymphoid enhancer factor (LEF) family transcriptional factors. However, it is still uncertain whether the diverse effects of beta-catenin are caused solely by aberrant gene transactivation. In this study, we used a proteomics approach to obtain further insight into the functional properties of nuclear beta-catenin. | D015179 | Colorectal Neoplasms |
| TCF7L2 | 19602480 | Tissue-specific alternative splicing of TCF7L2. | Common variants in the transcription factor 7-like 2 (TCF7L2) gene have been identified as the strongest genetic risk factors for type 2 diabetes (T2D). However, the mechanisms by which these non-coding variants increase risk for T2D are not well-established. We used 13 expression assays to survey mRNA expression of multiple TCF7L2 splicing forms in up to 380 samples from eight types of human tissue (pancreas, pancreatic islets, colon, liver, monocytes, skeletal muscle, subcutaneous adipose tissue and lymphoblastoid cell lines) and observed a tissue-specific pattern of alternative splicing. We tested whether the expression of TCF7L2 splicing forms was associated with single nucleotide polymorphisms (SNPs), rs7903146 and rs12255372, located within introns 3 and 4 of the gene and most strongly associated with T2D. Expression of two splicing forms was lower in pancreatic islets with increasing counts of T2D-associated alleles of the SNPs: a ubiquitous splicing form (P = 0.018 for rs7903146 and P = 0.020 for rs12255372) and a splicing form found in pancreatic islets, pancreas and colon but not in other tissues tested here (P = 0.009 for rs12255372 and P = 0.053 for rs7903146). Expression of this form in glucose-stimulated pancreatic islets correlated with expression of proinsulin (r(2) = 0.84-0.90, P < 0.00063). In summary, we identified a tissue-specific pattern of alternative splicing of TCF7L2. After adjustment for multiple tests, no association between expression of TCF7L2 in eight types of human tissue samples and T2D-associated genetic variants remained significant. Alternative splicing of TCF7L2 in pancreatic islets warrants future studies. GenBank Accession Numbers: FJ010164-FJ010174. | D003924 | Diabetes Mellitus, Type 2 |
| TCF7L2 | 19789636 | Alternative splicing of TCF7L2 gene in omental and subcutaneous adipose tissue and risk of type 2 diabetes. | Single nucleotide polymorphisms (SNPs) rs7903146 and rs12255372 located within TCF7L2 gene have been identified as the strongest common genetic risk factors for development of type 2 diabetes (T2D). We hypothesized that these genetic variants might increase the risk of T2D through regulation of alternative splicing or expression level of TCF7L2 in human adipose tissue. | D003924 | Diabetes Mellitus, Type 2 |
| TCF7L2 | 19789636 | Alternative splicing of TCF7L2 gene in omental and subcutaneous adipose tissue and risk of type 2 diabetes. | Single nucleotide polymorphisms (SNPs) rs7903146 and rs12255372 located within TCF7L2 gene have been identified as the strongest common genetic risk factors for development of type 2 diabetes (T2D). We hypothesized that these genetic variants might increase the risk of T2D through regulation of alternative splicing or expression level of TCF7L2 in human adipose tissue. | D009765 | Obesity |
| TCF7L2 | 20097709 | Genotype and tissue-specific effects on alternative splicing of the transcription factor 7-like 2 gene in humans. | Noncoding single-nucleotide polymorphisms (SNPs) within the TCF7L2 gene are confirmed risk factors for type 2 diabetes, but the mechanism by which they increase risk is unknown. | D003924 | Diabetes Mellitus, Type 2 |
| TCF7L2 | 20097709 | Genotype and tissue-specific effects on alternative splicing of the transcription factor 7-like 2 gene in humans. | Noncoding single-nucleotide polymorphisms (SNPs) within the TCF7L2 gene are confirmed risk factors for type 2 diabetes, but the mechanism by which they increase risk is unknown. | D020022 | Genetic Predisposition to Disease |
| TCF7L2 | 21256126 | Identification of T-cell factor-4 isoforms that contribute to the malignant phenotype of hepatocellular carcinoma cells. | The Wnt/β-catenin signaling pathway is frequently activated in hepatocellular carcinoma (HCC). Downstream signaling events involving the Wnt/β-catenin cascade occur through T-cell factor (TCF) proteins. The human TCF-4 gene is composed of 17 exons with multiple alternative splicing sites. However, the role of different TCF-4 isoforms in the pathogenesis of HCC is unknown. The purpose of this study was to identify and characterize TCF-4 isoforms in HCC. We identified 14 novel TCF-4 isoforms from four HCC cell lines. Functional analysis following transfection and expression in HCC cells revealed distinct effects on the phenotype. The TCF-4J isoform expression produced striking features of malignant transformation characterized by high cell proliferation rate, migration and colony formation even though its transcriptional activity was low. In contrast, the TCF-4K isoform displayed low TCF transcriptional activity; cell proliferation rate and colony formation were reduced as well. Interestingly, TCF-4J and TCF-4K differed by only five amino acids (the SxxSS motif). Thus, these studies suggest that conserved splicing motifs may have a major influence on the transcriptional activity and functional properties of TCF-4 isoforms and alter the characteristics of the malignant phenotype. | D006528 | Carcinoma, Hepatocellular |
| TCF7L2 | 21256126 | Identification of T-cell factor-4 isoforms that contribute to the malignant phenotype of hepatocellular carcinoma cells. | The Wnt/β-catenin signaling pathway is frequently activated in hepatocellular carcinoma (HCC). Downstream signaling events involving the Wnt/β-catenin cascade occur through T-cell factor (TCF) proteins. The human TCF-4 gene is composed of 17 exons with multiple alternative splicing sites. However, the role of different TCF-4 isoforms in the pathogenesis of HCC is unknown. The purpose of this study was to identify and characterize TCF-4 isoforms in HCC. We identified 14 novel TCF-4 isoforms from four HCC cell lines. Functional analysis following transfection and expression in HCC cells revealed distinct effects on the phenotype. The TCF-4J isoform expression produced striking features of malignant transformation characterized by high cell proliferation rate, migration and colony formation even though its transcriptional activity was low. In contrast, the TCF-4K isoform displayed low TCF transcriptional activity; cell proliferation rate and colony formation were reduced as well. Interestingly, TCF-4J and TCF-4K differed by only five amino acids (the SxxSS motif). Thus, these studies suggest that conserved splicing motifs may have a major influence on the transcriptional activity and functional properties of TCF-4 isoforms and alter the characteristics of the malignant phenotype. | D008113 | Liver Neoplasms |
Clinically important variants in TCF7L2 |
(ClinVar, 04/20/2024) |
| accession_id | uniprot_id | gene_name | Type | Variant | Clinical_significance |
|
|