Evidence Details for ITGA2B
Basic Information Top
| Gene Symbol: | ITGA2B ( CD41,CD41B,GP2B,GPIIb,GTA,HPA3 ) |
|---|---|
| Gene Full Name: | integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) |
| Band: | 17q21.31 |
| Quick Links | Entrez ID:3674; OMIM: 607759; Uniprot ID:ITA2B_HUMAN; ENSEMBL ID: ENSG00000005961; HGNC ID: 6138 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>ITGA2B|3674|nucleotide
ATGGCCAGAGCTTTGTGTCCACTGCAAGCCCTCTGGCTTCTGGAGTGGGTGCTGCTGCTCTTGGGACCTTGTGCTGCCCCTCCAGCCTGGGCCTTGAACCTGGAC
CCAGTGCAGCTCACCTTCTATGCAGGCCCCAATGGCAGCCAGTTTGGATTTTCACTGGACTTCCACAAGGACAGCCATGGGAGAGTGGCCATCGTGGTGGGCGCC
CCGCGGACCCTGGGCCCCAGCCAGGAGGAGACGGGCGGCGTGTTCCTGTGCCCCTGGAGGGCCGAGGGCGGCCAGTGCCCCTCGCTGCTCTTTGACCTCCGTGAT
GAGACCCGAAATGTAGGCTCCCAAACTTTACAAACCTTCAAGGCCCGCCAAGGACTGGGGGCGTCGGTCGTCAGCTGGAGCGACGTCATTGTGGCCTGCGCCCCC
TGGCAGCACTGGAACGTCCTAGAAAAGACTGAGGAGGCTGAGAAGACGCCCGTAGGTAGCTGCTTTTTGGCTCAGCCAGAGAGCGGCCGCCGCGCCGAGTACTCC
CCCTGTCGCGGGAACACCCTGAGCCGCATTTACGTGGAAAATGATTTTAGCTGGGACAAGCGTTACTGTGAAGCGGGCTTCAGCTCCGTGGTCACTCAGGCCGGA
GAGCTGGTGCTTGGGGCTCCTGGCGGCTATTATTTCTTAGGTCTCCTGGCCCAGGCTCCAGTTGCGGATATTTTCTCGAGTTACCGCCCAGGCATCCTTTTGTGG
CACGTGTCCTCCCAGAGCCTCTCCTTTGACTCCAGCAACCCAGAGTACTTCGACGGCTACTGGGGGTACTCGGTGGCCGTGGGCGAGTTCGACGGGGATCTCAAC
ACTACAGAATATGTCGTCGGTGCCCCCACTTGGAGCTGGACCCTGGGAGCGGTGGAAATTTTGGATTCCTACTACCAGAGGCTGCATCGGCTGCGCGGAGAGCAG
ATGGCGTCGTATTTTGGGCATTCAGTGGCTGTCACTGACGTCAACGGGGATGGGAGGCATGATCTGCTGGTGGGCGCTCCACTGTATATGGAGAGCCGGGCAGAC
CGAAAACTGGCCGAAGTGGGGCGTGTGTATTTGTTCCTGCAGCCGCGAGGCCCCCACGCGCTGGGTGCCCCCAGCCTCCTGCTGACTGGCACACAGCTCTATGGG
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ATGGCCAGAGCTTTGTGTCCACTGCAAGCCCTCTGGCTTCTGGAGTGGGTGCTGCTGCTCTTGGGACCTTGTGCTGCCCCTCCAGCCTGGGCCTTGAACCTGGAC
CCAGTGCAGCTCACCTTCTATGCAGGCCCCAATGGCAGCCAGTTTGGATTTTCACTGGACTTCCACAAGGACAGCCATGGGAGAGTGGCCATCGTGGTGGGCGCC
CCGCGGACCCTGGGCCCCAGCCAGGAGGAGACGGGCGGCGTGTTCCTGTGCCCCTGGAGGGCCGAGGGCGGCCAGTGCCCCTCGCTGCTCTTTGACCTCCGTGAT
GAGACCCGAAATGTAGGCTCCCAAACTTTACAAACCTTCAAGGCCCGCCAAGGACTGGGGGCGTCGGTCGTCAGCTGGAGCGACGTCATTGTGGCCTGCGCCCCC
TGGCAGCACTGGAACGTCCTAGAAAAGACTGAGGAGGCTGAGAAGACGCCCGTAGGTAGCTGCTTTTTGGCTCAGCCAGAGAGCGGCCGCCGCGCCGAGTACTCC
CCCTGTCGCGGGAACACCCTGAGCCGCATTTACGTGGAAAATGATTTTAGCTGGGACAAGCGTTACTGTGAAGCGGGCTTCAGCTCCGTGGTCACTCAGGCCGGA
GAGCTGGTGCTTGGGGCTCCTGGCGGCTATTATTTCTTAGGTCTCCTGGCCCAGGCTCCAGTTGCGGATATTTTCTCGAGTTACCGCCCAGGCATCCTTTTGTGG
CACGTGTCCTCCCAGAGCCTCTCCTTTGACTCCAGCAACCCAGAGTACTTCGACGGCTACTGGGGGTACTCGGTGGCCGTGGGCGAGTTCGACGGGGATCTCAAC
ACTACAGAATATGTCGTCGGTGCCCCCACTTGGAGCTGGACCCTGGGAGCGGTGGAAATTTTGGATTCCTACTACCAGAGGCTGCATCGGCTGCGCGGAGAGCAG
ATGGCGTCGTATTTTGGGCATTCAGTGGCTGTCACTGACGTCAACGGGGATGGGAGGCATGATCTGCTGGTGGGCGCTCCACTGTATATGGAGAGCCGGGCAGAC
CGAAAACTGGCCGAAGTGGGGCGTGTGTATTTGTTCCTGCAGCCGCGAGGCCCCCACGCGCTGGGTGCCCCCAGCCTCCTGCTGACTGGCACACAGCTCTATGGG
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>ITGA2B|3674|protein
MARALCPLQALWLLEWVLLLLGPCAAPPAWALNLDPVQLTFYAGPNGSQFGFSLDFHKDSHGRVAIVVGAPRTLGPSQEETGGVFLCPWRAEGGQCPSLLFDLRD
ETRNVGSQTLQTFKARQGLGASVVSWSDVIVACAPWQHWNVLEKTEEAEKTPVGSCFLAQPESGRRAEYSPCRGNTLSRIYVENDFSWDKRYCEAGFSSVVTQAG
ELVLGAPGGYYFLGLLAQAPVADIFSSYRPGILLWHVSSQSLSFDSSNPEYFDGYWGYSVAVGEFDGDLNTTEYVVGAPTWSWTLGAVEILDSYYQRLHRLRGEQ
MASYFGHSVAVTDVNGDGRHDLLVGAPLYMESRADRKLAEVGRVYLFLQPRGPHALGAPSLLLTGTQLYGRFGSAIAPLGDLDRDGYNDIAVAAPYGGPSGRGQV
LVFLGQSEGLRSRPSQVLDSPFPTGSAFGFSLRGAVDIDDNGYPDLIVGAYGANQVAVYRAQPVVKASVQLLVQDSLNPAVKSCVLPQTKTPVSCFNIQMCVGAT
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MARALCPLQALWLLEWVLLLLGPCAAPPAWALNLDPVQLTFYAGPNGSQFGFSLDFHKDSHGRVAIVVGAPRTLGPSQEETGGVFLCPWRAEGGQCPSLLFDLRD
ETRNVGSQTLQTFKARQGLGASVVSWSDVIVACAPWQHWNVLEKTEEAEKTPVGSCFLAQPESGRRAEYSPCRGNTLSRIYVENDFSWDKRYCEAGFSSVVTQAG
ELVLGAPGGYYFLGLLAQAPVADIFSSYRPGILLWHVSSQSLSFDSSNPEYFDGYWGYSVAVGEFDGDLNTTEYVVGAPTWSWTLGAVEILDSYYQRLHRLRGEQ
MASYFGHSVAVTDVNGDGRHDLLVGAPLYMESRADRKLAEVGRVYLFLQPRGPHALGAPSLLLTGTQLYGRFGSAIAPLGDLDRDGYNDIAVAAPYGGPSGRGQV
LVFLGQSEGLRSRPSQVLDSPFPTGSAFGFSLRGAVDIDDNGYPDLIVGAYGANQVAVYRAQPVVKASVQLLVQDSLNPAVKSCVLPQTKTPVSCFNIQMCVGAT
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Evidence summary TopClick the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
| Evidences | Syndromic Gene | GWAS | CNV | Linkage | Association | Expression | NGS de novo | NGS Mosaic | NGS Other | Low-Scale Gene Studies | Total |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Score (No. of Studies) | No | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 2 (2) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 14 (4) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Berkel, 2010 | Canada | SNP microarray |  | | ASD | - | - | - | - | 396 | 5023 | 5419 |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies Top Microarray Studies: 2
| Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Kuwano, 2011_1 | Japan | ASD | 21 (19.05%) |  | | - | autism | 21 (-) |
2.12 | Up | 0.00049 | |
| ||||||||||||
| Kuwano, 2011_2 | Japan | Mother with ASD children | 21 (100.00%) | - | - | - | - | 21 (100.00%) |
2.29 | Up | 0.00645 | |
| ||||||||||||
Proteomics Studies:0
| Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | |||||||||
NGS de novo Mutation Studies Top| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to autism spectrum disorder. |
NGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.