Protein:ADAM22 |
Protein Summary |
Gene summary |
| Gene name: ADAM22 | ASpdb.0 ID: 53616 | Gene | Gene symbol | ADAM22 | Gene ID | 53616 |
| Gene name | ADAM metallopeptidase domain 22 |
| Synonyms | ADAM 22|DEE61|EIEE61|MDC2 |
| Cytomap | 7q21.12 |
| Type of gene | protein-coding |
| Description | disintegrin and metalloproteinase domain-containing protein 22a disintegrin and metalloproteinase domain 22metalloproteinase-disintegrin ADAM22-3metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2 |
| Modification date | 20240416 |
| UniProtAcc | Q9P0K1 |
Gene ontology of this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Gene | ADAM22 | GO:0005886 | plasma membrane | 27066583 |
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 |
| Q9P0K1-1 | Q9P0K1-1_3g5c_A.pdb | 3G5C | X-ray | 2.36 | A | 233 | 718 |
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 |
| Q9P0K1 | ADAM22 | Q9P0K1-1 | Q9P0K1-2 | 906 | 899 | 768 | 803 | Deletion | none | none | 767 | 767 |
| Q9P0K1 | ADAM22 | Q9P0K1-1 | Q9P0K1-2 | 906 | 899 | 859 | 859 | Substitution | E | EYLNPWFKRDYNVAKWVEDVNKNTEGPYFR | 823 | 852 |
| Q9P0K1 | ADAM22 | Q9P0K1-1 | Q9P0K1-3 | 906 | 859 | 860 | 906 | Deletion | none | none | 859 | 859 |
| Q9P0K1 | ADAM22 | Q9P0K1-1 | Q9P0K1-4 | 906 | 823 | 768 | 803 | Deletion | none | none | 767 | 767 |
| Q9P0K1 | ADAM22 | Q9P0K1-1 | Q9P0K1-4 | 906 | 823 | 860 | 906 | Deletion | none | none | 823 | 823 |
| Q9P0K1 | ADAM22 | Q9P0K1-1 | Q9P0K1-5 | 906 | 870 | 768 | 803 | Deletion | none | none | 767 | 767 |
Multiple sequence alignment of our canonical and alternatively spliced ADAM22 |
Matched gene isoform IDs with Ensembl and RefSeq of our canonical and alternative spliced genes of ADAM22 |
| UniProt-id | ENSG | ENST | ENSP |
| Q9P0K1-1 | ENSG00000008277.15 | ENST00000265727.11 | ENSP00000265727.7 |
| Q9P0K1-2 | ENSG00000008277.15 | ENST00000398209.7 | ENSP00000381267.3 |
| Q9P0K1-3 | ENSG00000008277.15 | ENST00000398201.8 | ENSP00000381260.4 |
| Q9P0K1-4 | ENSG00000008277.15 | ENST00000684002.1 | ENSP00000508320.1 |
| Q9P0K1-5 | ENSG00000008277.15 | ENST00000398204.8 | ENSP00000381262.4 |
| UniProt-id | NM ID | NP ID |
| Q9P0K1-1 | NM_021723.4 | NP_068369.1 |
| Q9P0K1-2 | NM_021722.5 | NP_068368.2 |
| Q9P0K1-3 | NM_004194.4 | NP_004185.1 |
| Q9P0K1-4 | NM_021721.4 | NP_068367.1 |
Amino acid sequences of our canonical and alternatively spliced ADAM22 |
| accession_id | Protein sequence |
| Q9P0K1-1 | MQAAVAVSVPFLLLCVLGTCPPARCGQAGDASLMELEKRKENRFVERQSIVPLRLIYRSGGEDESRHDALDTRVRGDLGGPQLTHVDQAS FQVDAFGTSFILDVVLNHDLLSSEYIERHIEHGGKTVEVKGGEHCYYQGHIRGNPDSFVALSTCHGLHGMFYDGNHTYLIEPEENDTTQE DFHFHSVYKSRLFEFSLDDLPSEFQQVNITPSKFILKPRPKRSKRQLRRYPRNVEEETKYIELMIVNDHLMFKKHRLSVVHTNTYAKSVV NMADLIYKDQLKTRIVLVAMETWATDNKFAISENPLITLREFMKYRRDFIKEKSDAVHLFSGSQFESSRSGAAYIGGICSLLKGGGVNEF GKTDLMAVTLAQSLAHNIGIISDKRKLASGECKCEDTWSGCIMGDTGYYLPKKFTQCNIEEYHDFLNSGGGACLFNKPSKLLDPPECGNG FIETGEECDCGTPAECVLEGAECCKKCTLTQDSQCSDGLCCKKCKFQPMGTVCREAVNDCDIRETCSGNSSQCAPNIHKMDGYSCDGVQG ICFGGRCKTRDRQCKYIWGQKVTASDKYCYEKLNIEGTEKGNCGKDKDTWIQCNKRDVLCGYLLCTNIGNIPRLGELDGEITSTLVVQQG RTLNCSGGHVKLEEDVDLGYVEDGTPCGPQMMCLEHRCLPVASFNFSTCLSSKEGTICSGNGVCSNELKCVCNRHWIGSDCNTYFPHNDD AKTGITLSGNGVAGTNIIIGIIAGTILVLALILGITAWGYKNYREQRQLPQGDYVKKPGDGDSFYSDIPPGVSTNSASSSKKRSNGLSHS WSERIPDTKHISDICENGRPRSNSWQGNLGGNKKKIRGKRFRPRSNSTETLSPAKSPSSSTGSIASSRKYPYPMPPLPDEDKKVNRQSAR |
| Q9P0K1-2 | MQAAVAVSVPFLLLCVLGTCPPARCGQAGDASLMELEKRKENRFVERQSIVPLRLIYRSGGEDESRHDALDTRVRGDLGGPQLTHVDQAS FQVDAFGTSFILDVVLNHDLLSSEYIERHIEHGGKTVEVKGGEHCYYQGHIRGNPDSFVALSTCHGLHGMFYDGNHTYLIEPEENDTTQE DFHFHSVYKSRLFEFSLDDLPSEFQQVNITPSKFILKPRPKRSKRQLRRYPRNVEEETKYIELMIVNDHLMFKKHRLSVVHTNTYAKSVV NMADLIYKDQLKTRIVLVAMETWATDNKFAISENPLITLREFMKYRRDFIKEKSDAVHLFSGSQFESSRSGAAYIGGICSLLKGGGVNEF GKTDLMAVTLAQSLAHNIGIISDKRKLASGECKCEDTWSGCIMGDTGYYLPKKFTQCNIEEYHDFLNSGGGACLFNKPSKLLDPPECGNG FIETGEECDCGTPAECVLEGAECCKKCTLTQDSQCSDGLCCKKCKFQPMGTVCREAVNDCDIRETCSGNSSQCAPNIHKMDGYSCDGVQG ICFGGRCKTRDRQCKYIWGQKVTASDKYCYEKLNIEGTEKGNCGKDKDTWIQCNKRDVLCGYLLCTNIGNIPRLGELDGEITSTLVVQQG RTLNCSGGHVKLEEDVDLGYVEDGTPCGPQMMCLEHRCLPVASFNFSTCLSSKEGTICSGNGVCSNELKCVCNRHWIGSDCNTYFPHNDD AKTGITLSGNGVAGTNIIIGIIAGTILVLALILGITAWGYKNYREQRSNGLSHSWSERIPDTKHISDICENGRPRSNSWQGNLGGNKKKI |
| Q9P0K1-3 | MQAAVAVSVPFLLLCVLGTCPPARCGQAGDASLMELEKRKENRFVERQSIVPLRLIYRSGGEDESRHDALDTRVRGDLGGPQLTHVDQAS FQVDAFGTSFILDVVLNHDLLSSEYIERHIEHGGKTVEVKGGEHCYYQGHIRGNPDSFVALSTCHGLHGMFYDGNHTYLIEPEENDTTQE DFHFHSVYKSRLFEFSLDDLPSEFQQVNITPSKFILKPRPKRSKRQLRRYPRNVEEETKYIELMIVNDHLMFKKHRLSVVHTNTYAKSVV NMADLIYKDQLKTRIVLVAMETWATDNKFAISENPLITLREFMKYRRDFIKEKSDAVHLFSGSQFESSRSGAAYIGGICSLLKGGGVNEF GKTDLMAVTLAQSLAHNIGIISDKRKLASGECKCEDTWSGCIMGDTGYYLPKKFTQCNIEEYHDFLNSGGGACLFNKPSKLLDPPECGNG FIETGEECDCGTPAECVLEGAECCKKCTLTQDSQCSDGLCCKKCKFQPMGTVCREAVNDCDIRETCSGNSSQCAPNIHKMDGYSCDGVQG ICFGGRCKTRDRQCKYIWGQKVTASDKYCYEKLNIEGTEKGNCGKDKDTWIQCNKRDVLCGYLLCTNIGNIPRLGELDGEITSTLVVQQG RTLNCSGGHVKLEEDVDLGYVEDGTPCGPQMMCLEHRCLPVASFNFSTCLSSKEGTICSGNGVCSNELKCVCNRHWIGSDCNTYFPHNDD AKTGITLSGNGVAGTNIIIGIIAGTILVLALILGITAWGYKNYREQRQLPQGDYVKKPGDGDSFYSDIPPGVSTNSASSSKKRSNGLSHS |
| Q9P0K1-4 | MQAAVAVSVPFLLLCVLGTCPPARCGQAGDASLMELEKRKENRFVERQSIVPLRLIYRSGGEDESRHDALDTRVRGDLGGPQLTHVDQAS FQVDAFGTSFILDVVLNHDLLSSEYIERHIEHGGKTVEVKGGEHCYYQGHIRGNPDSFVALSTCHGLHGMFYDGNHTYLIEPEENDTTQE DFHFHSVYKSRLFEFSLDDLPSEFQQVNITPSKFILKPRPKRSKRQLRRYPRNVEEETKYIELMIVNDHLMFKKHRLSVVHTNTYAKSVV NMADLIYKDQLKTRIVLVAMETWATDNKFAISENPLITLREFMKYRRDFIKEKSDAVHLFSGSQFESSRSGAAYIGGICSLLKGGGVNEF GKTDLMAVTLAQSLAHNIGIISDKRKLASGECKCEDTWSGCIMGDTGYYLPKKFTQCNIEEYHDFLNSGGGACLFNKPSKLLDPPECGNG FIETGEECDCGTPAECVLEGAECCKKCTLTQDSQCSDGLCCKKCKFQPMGTVCREAVNDCDIRETCSGNSSQCAPNIHKMDGYSCDGVQG ICFGGRCKTRDRQCKYIWGQKVTASDKYCYEKLNIEGTEKGNCGKDKDTWIQCNKRDVLCGYLLCTNIGNIPRLGELDGEITSTLVVQQG RTLNCSGGHVKLEEDVDLGYVEDGTPCGPQMMCLEHRCLPVASFNFSTCLSSKEGTICSGNGVCSNELKCVCNRHWIGSDCNTYFPHNDD AKTGITLSGNGVAGTNIIIGIIAGTILVLALILGITAWGYKNYREQRSNGLSHSWSERIPDTKHISDICENGRPRSNSWQGNLGGNKKKI |
| Q9P0K1-5 | MQAAVAVSVPFLLLCVLGTCPPARCGQAGDASLMELEKRKENRFVERQSIVPLRLIYRSGGEDESRHDALDTRVRGDLGGPQLTHVDQAS FQVDAFGTSFILDVVLNHDLLSSEYIERHIEHGGKTVEVKGGEHCYYQGHIRGNPDSFVALSTCHGLHGMFYDGNHTYLIEPEENDTTQE DFHFHSVYKSRLFEFSLDDLPSEFQQVNITPSKFILKPRPKRSKRQLRRYPRNVEEETKYIELMIVNDHLMFKKHRLSVVHTNTYAKSVV NMADLIYKDQLKTRIVLVAMETWATDNKFAISENPLITLREFMKYRRDFIKEKSDAVHLFSGSQFESSRSGAAYIGGICSLLKGGGVNEF GKTDLMAVTLAQSLAHNIGIISDKRKLASGECKCEDTWSGCIMGDTGYYLPKKFTQCNIEEYHDFLNSGGGACLFNKPSKLLDPPECGNG FIETGEECDCGTPAECVLEGAECCKKCTLTQDSQCSDGLCCKKCKFQPMGTVCREAVNDCDIRETCSGNSSQCAPNIHKMDGYSCDGVQG ICFGGRCKTRDRQCKYIWGQKVTASDKYCYEKLNIEGTEKGNCGKDKDTWIQCNKRDVLCGYLLCTNIGNIPRLGELDGEITSTLVVQQG RTLNCSGGHVKLEEDVDLGYVEDGTPCGPQMMCLEHRCLPVASFNFSTCLSSKEGTICSGNGVCSNELKCVCNRHWIGSDCNTYFPHNDD AKTGITLSGNGVAGTNIIIGIIAGTILVLALILGITAWGYKNYREQRSNGLSHSWSERIPDTKHISDICENGRPRSNSWQGNLGGNKKKI |
Protein Functional Features |
Main function of this protein. (from UniProt) |
| ADAM22 (go to UniProt):Q9P0K1 |
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 |
| Q9P0K1 | Topological domain | 758 | 906 | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 | Type=Deletion;Start=768;End=803 |
| Q9P0K1 | Topological domain | 758 | 906 | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 | Type=Substitution;Start=859;End=859 |
| Q9P0K1 | Topological domain | 758 | 906 | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 | Type=Deletion;Start=860;End=906 |
| Q9P0K1 | Topological domain | 758 | 906 | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 | Type=Deletion;Start=768;End=803 |
| Q9P0K1 | Topological domain | 758 | 906 | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 | Type=Deletion;Start=860;End=906 |
| Q9P0K1 | Topological domain | 758 | 906 | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 | Type=Deletion;Start=768;End=803 |
| Q9P0K1 | Region | 785 | 906 | Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Deletion;Start=768;End=803 |
| Q9P0K1 | Region | 785 | 906 | Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Substitution;Start=859;End=859 |
| Q9P0K1 | Region | 785 | 906 | Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Deletion;Start=860;End=906 |
| Q9P0K1 | Region | 785 | 906 | Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Deletion;Start=768;End=803 |
| Q9P0K1 | Region | 785 | 906 | Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Deletion;Start=860;End=906 |
| Q9P0K1 | Region | 785 | 906 | Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Deletion;Start=768;End=803 |
| Q9P0K1 | Compositional bias | 788 | 812 | Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Deletion;Start=768;End=803 |
| Q9P0K1 | Compositional bias | 788 | 812 | Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Deletion;Start=768;End=803 |
| Q9P0K1 | Compositional bias | 788 | 812 | Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Deletion;Start=768;End=803 |
| Q9P0K1 | Compositional bias | 855 | 877 | Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Substitution;Start=859;End=859 |
| Q9P0K1 | Compositional bias | 855 | 877 | Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Deletion;Start=860;End=906 |
| Q9P0K1 | Compositional bias | 855 | 877 | Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Deletion;Start=860;End=906 |
Gene Isoform Structures and Expression Levels for ADAM22 |
Gene structures of our canonical and alternative spliced genes of ADAM22* 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 Q9P0K1-1 |
| 3D view using mol* of Q9P0K1-2 |
| 3D view using mol* of Q9P0K1-3 |
| 3D view using mol* of Q9P0K1-4 |
| 3D view using mol* of Q9P0K1-5 |
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. |
| Ramachandran plot of Q9P0K1-1 |
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| Ramachandran plot of Q9P0K1-4 |
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| Ramachandran plot of Q9P0K1-5 |
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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 |
| Q9P0K1-1 | 1.062 | 198 | 1.07 | 790.615 | 0.562 | 0.79 | 1.023 | 0.7 | 1.056 | 0.662 | 0.647 | 305,306,309,337,339,341,342,343,344,345,346,347,34 8,350,353,372,373,376,381,382,383,384,386,387,392, 393,394,401,402,403,404,405,413,414,415,417,418,42 1,546,556,613,614,615,616,641,642,643,646,648,652, 882 |
| Q9P0K1-2 | 1.044 | 232 | 1.068 | 902.776 | 0.525 | 0.747 | 0.973 | 0.782 | 0.983 | 0.795 | 0.845 | 310,313,314,317,344,352,353,548,553,556,583,584,58 5,590,591,593,594,597,600,618,639,641,643,645,646, 647,648,650,651,652,653,663,664,665,666,667,674,87 2,873,874,875,876,877 |
| Q9P0K1-3 | 1.063 | 180 | 1.096 | 725.102 | 0.596 | 0.754 | 0.976 | 0.801 | 0.91 | 0.881 | 0.649 | 305,306,309,310,313,314,317,337,339,340,341,342,34 3,344,345,346,347,352,353,372,376,381,382,383,384, 387,392,393,394,401,403,404,405,415,417,418,421,54 6,556,614,615,616,641,642,643,644,646,648 |
| Q9P0K1-4 | 1.027 | 263 | 1.052 | 765.919 | 0.549 | 0.722 | 0.969 | 0.596 | 0.987 | 0.604 | 0.868 | 37,39,40,41,43,44,47,68,69,70,71,73,152,153,154,15 5,156,158,169,171,172,173,174,175,176,178,179,180, 181,182,183,184,188,254,255,256,261,264,265,268,33 2,334,360,361,362,363,365 |
| Q9P0K1-5 | 1.043 | 579 | 1.021 | 1924.916 | 0.521 | 0.762 | 0.989 | 0.434 | 1.153 | 0.377 | 0.704 | 112,114,242,288,289,316,317,320,321,322,323,324,32 5,327,345,346,347,348,349,350,351,352,353,379,381, 383,385,386,387,391,392,417,420,421,424,425,427,42 8,429,430,431,432,433,435,436,438,439,440,508,525, 526,527,528,530,531,543,544,546,547,548,549,552,55 3,555,556,557,559,560,561,584,585,590,600,613,618, 639,641,642,645,646,647,648,650,651,652,653,663,66 4,665,666,673,674,675,676,677,696,697,698,842,843, 844,845,846,847 |
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 Q9P0K1-1_Q9P0K1-1_3g5c_A.pdb |
Protein Structure Comparision Visualization with mol*. between Canonical validated structure (PDB)(orange) vs Alternative predicted structure (AF2)(green) |
| 3D view using mol* of Q9P0K1-1_3g5c_A_Q9P0K1-2.pdb |
| 3D view using mol* of Q9P0K1-1_3g5c_A_Q9P0K1-3.pdb |
| 3D view using mol* of Q9P0K1-1_3g5c_A_Q9P0K1-4.pdb |
| 3D view using mol* of Q9P0K1-1_3g5c_A_Q9P0K1-5.pdb |
Protein Structure Comparision Visualization with mol*. between Canonical predicted structure (AF2)(orange) vs Alternative predicted structure (AF2)(green) |
| 3D view using mol* of Q9P0K1-1_Q9P0K1-2.pdb |
| 3D view using mol* of Q9P0K1-1_Q9P0K1-3.pdb |
| 3D view using mol* of Q9P0K1-1_Q9P0K1-4.pdb |
| 3D view using mol* of Q9P0K1-1_Q9P0K1-5.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. |
| ./stats/relative_asa/Q9P0K1-1_vs_Q9P0K1-2.png |
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| ./stats/relative_asa/Q9P0K1-1_vs_Q9P0K1-3.png |
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| ./stats/relative_asa/Q9P0K1-1_vs_Q9P0K1-4.png |
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| ./stats/relative_asa/Q9P0K1-1_vs_Q9P0K1-5.png |
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Protein-Protein Interaction |
Interactors from UniProt. |
| Accession_id | Subsection | Start | End | Funcitonal feature | Splicing information |
Interactors from STRING. |
| Gene name | Interactors |
Related Drugs to ADAM22 |
Drugs targeting this gene/protein. (DrugBank) |
| UniProt accession | Gene name | DrugBank ID | Drug name | Drug group | Actions |
Related Diseases to ADAM22 |
Previous studies relating to the alternative splicing of ADAM22 and disease information from the MeSH term (PubMed) |
| Gene | PMID | Title | Abstract | MeSH ID | MeSH term |
| ADAM22 | 11050470 | The specific expression of three novel splice variant forms of human metalloprotease-like disintegrin-like cysteine-rich protein 2 gene inBrain tissues and gliomas. | We have previously identified 67 exons on a yeast artificial chromosome contig spanning 1.5 Mb around the multidrug resistance 1 gene region of human chromosome 7q21.1. In this study, we identified three novel cytoplasmic variants (MDC2-gamma, MDC2-delta, and MDC2-epsilon) of the human metalloprotease-like disintegrin-like cysteine-rich protein 2 (MDC2) among these exons by screening a human brain cDNA library and also by using a reverse transcription polymerase chain reaction. Genomic sequence analysis strongly supported the idea that the variations in the cytoplasmic domain were generated by alternative splicing. The expression of MDC2 variant forms in human brain tissue and gliomas was examined by reverse transcription polymerase chain reaction and RNase protection assay. MDC2-epsilon was expressed only in the cortical and hippocampal regions in human brain, but not in gliomas. In contrast, MDC2-gamma was a major form expressed in human gliomas. Specific expression of these cytoplasmic variants of MDC2 in human brain and its malignancies is discussed. | D001932 | Brain Neoplasms |
| ADAM22 | 11050470 | The specific expression of three novel splice variant forms of human metalloprotease-like disintegrin-like cysteine-rich protein 2 gene inBrain tissues and gliomas. | We have previously identified 67 exons on a yeast artificial chromosome contig spanning 1.5 Mb around the multidrug resistance 1 gene region of human chromosome 7q21.1. In this study, we identified three novel cytoplasmic variants (MDC2-gamma, MDC2-delta, and MDC2-epsilon) of the human metalloprotease-like disintegrin-like cysteine-rich protein 2 (MDC2) among these exons by screening a human brain cDNA library and also by using a reverse transcription polymerase chain reaction. Genomic sequence analysis strongly supported the idea that the variations in the cytoplasmic domain were generated by alternative splicing. The expression of MDC2 variant forms in human brain tissue and gliomas was examined by reverse transcription polymerase chain reaction and RNase protection assay. MDC2-epsilon was expressed only in the cortical and hippocampal regions in human brain, but not in gliomas. In contrast, MDC2-gamma was a major form expressed in human gliomas. Specific expression of these cytoplasmic variants of MDC2 in human brain and its malignancies is discussed. | D005910 | Glioma |
Clinically important variants in ADAM22 |
(ClinVar, 04/20/2024) |
| accession_id | uniprot_id | gene_name | Type | Variant | Clinical_significance |
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