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Center for Computational Systems Medicine
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Protein Summary

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AS Summary

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Protein Functional Features

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Gene Isoform Structures and Expression Levels

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Protein Structures

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pLDDT Score Distribution

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Ramachandran Plot of Protein Structures

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Potential Active Site Information

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Protein Structure and Feature Comparision

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Protein-Protein Interaction

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Related Drugs

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Related Diseases

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Clinically Important Variants

Protein:ADAM22

Protein Summary

check button Gene summary
Gene name: ADAM22
ASpdb.0 ID: 53616
Gene
Gene symbol

ADAM22

Gene ID

53616

Gene nameADAM metallopeptidase domain 22
SynonymsADAM 22|DEE61|EIEE61|MDC2
Cytomap

7q21.12

Type of geneprotein-coding
Descriptiondisintegrin and metalloproteinase domain-containing protein 22a disintegrin and metalloproteinase domain 22metalloproteinase-disintegrin ADAM22-3metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2
Modification date20240416
UniProtAcc

Q9P0K1


check button Gene ontology of this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
GeneADAM22

GO:0005886

plasma membrane

27066583



AS Summary

check button Information of the canonical protein with experimentally identified structure from PDB (2023).
UniProt AccFile namePDB IDMethodResolutionChainStartEnd
Q9P0K1-1Q9P0K1-1_3g5c_A.pdb3G5CX-ray2.36A233718

check button ASpdb's canonical and alternatively spliced isoform information.
accession_idgene_namecanonical_idalternative_idcanonical_lengthalternative_lengthcanonical_startcanonical_endtypeoriginalSEQvariationSEQalternative_startalternative_end
Q9P0K1ADAM22Q9P0K1-1Q9P0K1-2906899768803Deletionnonenone767767
Q9P0K1ADAM22Q9P0K1-1Q9P0K1-2906899859859SubstitutionEEYLNPWFKRDYNVAKWVEDVNKNTEGPYFR823852
Q9P0K1ADAM22Q9P0K1-1Q9P0K1-3906859860906Deletionnonenone859859
Q9P0K1ADAM22Q9P0K1-1Q9P0K1-4906823768803Deletionnonenone767767
Q9P0K1ADAM22Q9P0K1-1Q9P0K1-4906823860906Deletionnonenone823823
Q9P0K1ADAM22Q9P0K1-1Q9P0K1-5906870768803Deletionnonenone767767

check buttonMultiple sequence alignment of our canonical and alternatively spliced ADAM22

check button Matched gene isoform IDs with Ensembl and RefSeq of our canonical and alternative spliced genes of ADAM22
UniProt-idENSGENSTENSP
Q9P0K1-1ENSG00000008277.15ENST00000265727.11ENSP00000265727.7
Q9P0K1-2ENSG00000008277.15ENST00000398209.7ENSP00000381267.3
Q9P0K1-3ENSG00000008277.15ENST00000398201.8ENSP00000381260.4
Q9P0K1-4ENSG00000008277.15ENST00000684002.1ENSP00000508320.1
Q9P0K1-5ENSG00000008277.15ENST00000398204.8ENSP00000381262.4

UniProt-idNM IDNP ID
Q9P0K1-1NM_021723.4NP_068369.1
Q9P0K1-2NM_021722.5NP_068368.2
Q9P0K1-3NM_004194.4NP_004185.1
Q9P0K1-4NM_021721.4NP_068367.1

check buttonAmino acid sequences of our canonical and alternatively spliced ADAM22
accession_idProtein sequence
Q9P0K1-1MQAAVAVSVPFLLLCVLGTCPPARCGQAGDASLMELEKRKENRFVERQSIVPLRLIYRSGGEDESRHDALDTRVRGDLGGPQLTHVDQAS
FQVDAFGTSFILDVVLNHDLLSSEYIERHIEHGGKTVEVKGGEHCYYQGHIRGNPDSFVALSTCHGLHGMFYDGNHTYLIEPEENDTTQE
DFHFHSVYKSRLFEFSLDDLPSEFQQVNITPSKFILKPRPKRSKRQLRRYPRNVEEETKYIELMIVNDHLMFKKHRLSVVHTNTYAKSVV
NMADLIYKDQLKTRIVLVAMETWATDNKFAISENPLITLREFMKYRRDFIKEKSDAVHLFSGSQFESSRSGAAYIGGICSLLKGGGVNEF
GKTDLMAVTLAQSLAHNIGIISDKRKLASGECKCEDTWSGCIMGDTGYYLPKKFTQCNIEEYHDFLNSGGGACLFNKPSKLLDPPECGNG
FIETGEECDCGTPAECVLEGAECCKKCTLTQDSQCSDGLCCKKCKFQPMGTVCREAVNDCDIRETCSGNSSQCAPNIHKMDGYSCDGVQG
ICFGGRCKTRDRQCKYIWGQKVTASDKYCYEKLNIEGTEKGNCGKDKDTWIQCNKRDVLCGYLLCTNIGNIPRLGELDGEITSTLVVQQG
RTLNCSGGHVKLEEDVDLGYVEDGTPCGPQMMCLEHRCLPVASFNFSTCLSSKEGTICSGNGVCSNELKCVCNRHWIGSDCNTYFPHNDD
AKTGITLSGNGVAGTNIIIGIIAGTILVLALILGITAWGYKNYREQRQLPQGDYVKKPGDGDSFYSDIPPGVSTNSASSSKKRSNGLSHS
WSERIPDTKHISDICENGRPRSNSWQGNLGGNKKKIRGKRFRPRSNSTETLSPAKSPSSSTGSIASSRKYPYPMPPLPDEDKKVNRQSAR
Q9P0K1-2MQAAVAVSVPFLLLCVLGTCPPARCGQAGDASLMELEKRKENRFVERQSIVPLRLIYRSGGEDESRHDALDTRVRGDLGGPQLTHVDQAS
FQVDAFGTSFILDVVLNHDLLSSEYIERHIEHGGKTVEVKGGEHCYYQGHIRGNPDSFVALSTCHGLHGMFYDGNHTYLIEPEENDTTQE
DFHFHSVYKSRLFEFSLDDLPSEFQQVNITPSKFILKPRPKRSKRQLRRYPRNVEEETKYIELMIVNDHLMFKKHRLSVVHTNTYAKSVV
NMADLIYKDQLKTRIVLVAMETWATDNKFAISENPLITLREFMKYRRDFIKEKSDAVHLFSGSQFESSRSGAAYIGGICSLLKGGGVNEF
GKTDLMAVTLAQSLAHNIGIISDKRKLASGECKCEDTWSGCIMGDTGYYLPKKFTQCNIEEYHDFLNSGGGACLFNKPSKLLDPPECGNG
FIETGEECDCGTPAECVLEGAECCKKCTLTQDSQCSDGLCCKKCKFQPMGTVCREAVNDCDIRETCSGNSSQCAPNIHKMDGYSCDGVQG
ICFGGRCKTRDRQCKYIWGQKVTASDKYCYEKLNIEGTEKGNCGKDKDTWIQCNKRDVLCGYLLCTNIGNIPRLGELDGEITSTLVVQQG
RTLNCSGGHVKLEEDVDLGYVEDGTPCGPQMMCLEHRCLPVASFNFSTCLSSKEGTICSGNGVCSNELKCVCNRHWIGSDCNTYFPHNDD
AKTGITLSGNGVAGTNIIIGIIAGTILVLALILGITAWGYKNYREQRSNGLSHSWSERIPDTKHISDICENGRPRSNSWQGNLGGNKKKI
Q9P0K1-3MQAAVAVSVPFLLLCVLGTCPPARCGQAGDASLMELEKRKENRFVERQSIVPLRLIYRSGGEDESRHDALDTRVRGDLGGPQLTHVDQAS
FQVDAFGTSFILDVVLNHDLLSSEYIERHIEHGGKTVEVKGGEHCYYQGHIRGNPDSFVALSTCHGLHGMFYDGNHTYLIEPEENDTTQE
DFHFHSVYKSRLFEFSLDDLPSEFQQVNITPSKFILKPRPKRSKRQLRRYPRNVEEETKYIELMIVNDHLMFKKHRLSVVHTNTYAKSVV
NMADLIYKDQLKTRIVLVAMETWATDNKFAISENPLITLREFMKYRRDFIKEKSDAVHLFSGSQFESSRSGAAYIGGICSLLKGGGVNEF
GKTDLMAVTLAQSLAHNIGIISDKRKLASGECKCEDTWSGCIMGDTGYYLPKKFTQCNIEEYHDFLNSGGGACLFNKPSKLLDPPECGNG
FIETGEECDCGTPAECVLEGAECCKKCTLTQDSQCSDGLCCKKCKFQPMGTVCREAVNDCDIRETCSGNSSQCAPNIHKMDGYSCDGVQG
ICFGGRCKTRDRQCKYIWGQKVTASDKYCYEKLNIEGTEKGNCGKDKDTWIQCNKRDVLCGYLLCTNIGNIPRLGELDGEITSTLVVQQG
RTLNCSGGHVKLEEDVDLGYVEDGTPCGPQMMCLEHRCLPVASFNFSTCLSSKEGTICSGNGVCSNELKCVCNRHWIGSDCNTYFPHNDD
AKTGITLSGNGVAGTNIIIGIIAGTILVLALILGITAWGYKNYREQRQLPQGDYVKKPGDGDSFYSDIPPGVSTNSASSSKKRSNGLSHS
Q9P0K1-4MQAAVAVSVPFLLLCVLGTCPPARCGQAGDASLMELEKRKENRFVERQSIVPLRLIYRSGGEDESRHDALDTRVRGDLGGPQLTHVDQAS
FQVDAFGTSFILDVVLNHDLLSSEYIERHIEHGGKTVEVKGGEHCYYQGHIRGNPDSFVALSTCHGLHGMFYDGNHTYLIEPEENDTTQE
DFHFHSVYKSRLFEFSLDDLPSEFQQVNITPSKFILKPRPKRSKRQLRRYPRNVEEETKYIELMIVNDHLMFKKHRLSVVHTNTYAKSVV
NMADLIYKDQLKTRIVLVAMETWATDNKFAISENPLITLREFMKYRRDFIKEKSDAVHLFSGSQFESSRSGAAYIGGICSLLKGGGVNEF
GKTDLMAVTLAQSLAHNIGIISDKRKLASGECKCEDTWSGCIMGDTGYYLPKKFTQCNIEEYHDFLNSGGGACLFNKPSKLLDPPECGNG
FIETGEECDCGTPAECVLEGAECCKKCTLTQDSQCSDGLCCKKCKFQPMGTVCREAVNDCDIRETCSGNSSQCAPNIHKMDGYSCDGVQG
ICFGGRCKTRDRQCKYIWGQKVTASDKYCYEKLNIEGTEKGNCGKDKDTWIQCNKRDVLCGYLLCTNIGNIPRLGELDGEITSTLVVQQG
RTLNCSGGHVKLEEDVDLGYVEDGTPCGPQMMCLEHRCLPVASFNFSTCLSSKEGTICSGNGVCSNELKCVCNRHWIGSDCNTYFPHNDD
AKTGITLSGNGVAGTNIIIGIIAGTILVLALILGITAWGYKNYREQRSNGLSHSWSERIPDTKHISDICENGRPRSNSWQGNLGGNKKKI
Q9P0K1-5MQAAVAVSVPFLLLCVLGTCPPARCGQAGDASLMELEKRKENRFVERQSIVPLRLIYRSGGEDESRHDALDTRVRGDLGGPQLTHVDQAS
FQVDAFGTSFILDVVLNHDLLSSEYIERHIEHGGKTVEVKGGEHCYYQGHIRGNPDSFVALSTCHGLHGMFYDGNHTYLIEPEENDTTQE
DFHFHSVYKSRLFEFSLDDLPSEFQQVNITPSKFILKPRPKRSKRQLRRYPRNVEEETKYIELMIVNDHLMFKKHRLSVVHTNTYAKSVV
NMADLIYKDQLKTRIVLVAMETWATDNKFAISENPLITLREFMKYRRDFIKEKSDAVHLFSGSQFESSRSGAAYIGGICSLLKGGGVNEF
GKTDLMAVTLAQSLAHNIGIISDKRKLASGECKCEDTWSGCIMGDTGYYLPKKFTQCNIEEYHDFLNSGGGACLFNKPSKLLDPPECGNG
FIETGEECDCGTPAECVLEGAECCKKCTLTQDSQCSDGLCCKKCKFQPMGTVCREAVNDCDIRETCSGNSSQCAPNIHKMDGYSCDGVQG
ICFGGRCKTRDRQCKYIWGQKVTASDKYCYEKLNIEGTEKGNCGKDKDTWIQCNKRDVLCGYLLCTNIGNIPRLGELDGEITSTLVVQQG
RTLNCSGGHVKLEEDVDLGYVEDGTPCGPQMMCLEHRCLPVASFNFSTCLSSKEGTICSGNGVCSNELKCVCNRHWIGSDCNTYFPHNDD
AKTGITLSGNGVAGTNIIIGIIAGTILVLALILGITAWGYKNYREQRSNGLSHSWSERIPDTKHISDICENGRPRSNSWQGNLGGNKKKI

Protein Functional Features

check buttonMain function of this protein. (from UniProt)
ADAM22 (go to UniProt):Q9P0K1

check buttonRetention 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

download page

* Minus value of BPloci means that the break pointn is located before the CDS.
- Retained protein feature among the 13 regional features.
Accession_idSubsectionStartEndFuncitonal featureSplicing information
Q9P0K1Topological domain758906Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255Type=Deletion;Start=768;End=803
Q9P0K1Topological domain758906Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255Type=Substitution;Start=859;End=859
Q9P0K1Topological domain758906Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255Type=Deletion;Start=860;End=906
Q9P0K1Topological domain758906Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255Type=Deletion;Start=768;End=803
Q9P0K1Topological domain758906Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255Type=Deletion;Start=860;End=906
Q9P0K1Topological domain758906Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255Type=Deletion;Start=768;End=803
Q9P0K1Region785906Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-liteType=Deletion;Start=768;End=803
Q9P0K1Region785906Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-liteType=Substitution;Start=859;End=859
Q9P0K1Region785906Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-liteType=Deletion;Start=860;End=906
Q9P0K1Region785906Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-liteType=Deletion;Start=768;End=803
Q9P0K1Region785906Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-liteType=Deletion;Start=860;End=906
Q9P0K1Region785906Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-liteType=Deletion;Start=768;End=803
Q9P0K1Compositional bias788812Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-liteType=Deletion;Start=768;End=803
Q9P0K1Compositional bias788812Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-liteType=Deletion;Start=768;End=803
Q9P0K1Compositional bias788812Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-liteType=Deletion;Start=768;End=803
Q9P0K1Compositional bias855877Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-liteType=Substitution;Start=859;End=859
Q9P0K1Compositional bias855877Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-liteType=Deletion;Start=860;End=906
Q9P0K1Compositional bias855877Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-liteType=Deletion;Start=860;End=906


Gene Isoform Structures and Expression Levels for ADAM22

check buttonGene 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.
gene isoform structure of ADAM22

check button Expression levels of gene isoforms across GTEx.
gtex expression

check button Expression levels of gene isoforms across TCGA.
tcga expression


Protein Structures

check button 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

check button pLDDT score distribution of the predicted protein structures from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.
pLDDT distribution across the protein length of Q9P0K1-1
all structure
pLDDT distribution across the protein length of Q9P0K1-2
all structure
pLDDT distribution across the protein length of Q9P0K1-3
all structure
pLDDT distribution across the protein length of Q9P0K1-4
all structure
pLDDT distribution across the protein length of Q9P0K1-5
all structure


Ramachandran Plot of Protein Structures


check button 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
all structure
Ramachandran plot of Q9P0K1-4
all structure
Ramachandran plot of Q9P0K1-5
all structure

Potential Active Site Information


check button The potential binding sites of these proteins were identified using SiteMap, a module of the Schrodinger suite.
UniProt-idSite scoreSizeD scoreVolumeExposureEnclosureContactPhobicPhilicBalanceDon/AccResidues
Q9P0K1-11.0621981.07790.6150.5620.791.0230.71.0560.6620.647305,306,309,337,339,341,342,343,344,345,346,347,34
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
Q9P0K1-21.0442321.068902.7760.5250.7470.9730.7820.9830.7950.845310,313,314,317,344,352,353,548,553,556,583,584,58
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
Q9P0K1-31.0631801.096725.1020.5960.7540.9760.8010.910.8810.649305,306,309,310,313,314,317,337,339,340,341,342,34
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
Q9P0K1-41.0272631.052765.9190.5490.7220.9690.5960.9870.6040.86837,39,40,41,43,44,47,68,69,70,71,73,152,153,154,15
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
Q9P0K1-51.0435791.0211924.9160.5210.7620.9890.4341.1530.3770.704112,114,242,288,289,316,317,320,321,322,323,324,32
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


check button Protein Structure Comparision Using Template Modeling Scores (TM-score).
all structure

check button 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

check button 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

check button 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

check button Protein Feature Comparison of the protein sequendary structures among the protiens.
./stats/secondary_structure/figure/Q9P0K1-1_vs_Q9P0K1-2.png
all structure<
./stats/secondary_structure/figure/Q9P0K1-1_vs_Q9P0K1-3.png
all structure<
./stats/secondary_structure/figure/Q9P0K1-1_vs_Q9P0K1-4.png
all structure<
./stats/secondary_structure/figure/Q9P0K1-1_vs_Q9P0K1-5.png
all structure<

check button Protein Feature Comparison of the relative accessible surface area (ASA) among the protiens.
./stats/relative_asa/Q9P0K1-1_vs_Q9P0K1-2.png
all structure<
./stats/relative_asa/Q9P0K1-1_vs_Q9P0K1-3.png
all structure<
./stats/relative_asa/Q9P0K1-1_vs_Q9P0K1-4.png
all structure<
./stats/relative_asa/Q9P0K1-1_vs_Q9P0K1-5.png
all structure<


Protein-Protein Interaction


check button Interactors from UniProt.
Accession_idSubsectionStartEndFuncitonal featureSplicing information


check button Interactors from STRING.
Gene nameInteractors


Related Drugs to ADAM22


check button Drugs targeting this gene/protein.
(DrugBank)
UniProt accessionGene nameDrugBank IDDrug nameDrug groupActions

Related Diseases to ADAM22


check button Previous studies relating to the alternative splicing of ADAM22 and disease information from the MeSH term (PubMed)
GenePMIDTitleAbstractMeSH IDMeSH term
ADAM2211050470The 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.D001932Brain Neoplasms
ADAM2211050470The 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.D005910Glioma


Clinically important variants in ADAM22


check button (ClinVar, 04/20/2024)
accession_iduniprot_idgene_nameTypeVariantClinical_significance