AutismKB 2.0

Evidence Details for ITGA2


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Basic Information Top
Gene Symbol:ITGA2 ( BR,CD49B,GPIa,VLA-2,VLAA2 )
Gene Full Name: integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)
Band: 5q11.2
Quick LinksEntrez ID:3673; OMIM: 192974; Uniprot ID:ITA2_HUMAN; ENSEMBL ID: ENSG00000164171; HGNC ID: 6137
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ITGA2|3673|nucleotide
ATGGGGCCAGAACGGACAGGGGCCGCGCCGCTGCCGCTGCTGCTGGTGTTAGCGCTCAGTCAAGGCATTTTAAATTGTTGTTTGGCCTACAATGTTGGTCTCCCA
GAAGCAAAAATATTTTCCGGTCCTTCAAGTGAACAGTTTGGCTATGCAGTGCAGCAGTTTATAAATCCAAAAGGCAACTGGTTACTGGTTGGTTCACCCTGGAGT
GGCTTTCCTGAGAACCGAATGGGAGATGTGTATAAATGTCCTGTTGACCTATCCACTGCCACATGTGAAAAACTAAATTTGCAAACTTCAACAAGCATTCCAAAT
GTTACTGAGATGAAAACCAACATGAGCCTCGGCTTGATCCTCACCAGGAACATGGGAACTGGAGGTTTTCTCACATGTGGTCCTCTGTGGGCACAGCAATGTGGG
AATCAGTATTACACAACGGGTGTGTGTTCTGACATCAGTCCTGATTTTCAGCTCTCAGCCAGCTTCTCACCTGCAACTCAGCCCTGCCCTTCCCTCATAGATGTT
GTGGTTGTGTGTGATGAATCAAATAGTATTTATCCTTGGGATGCAGTAAAGAATTTTTTGGAAAAATTTGTACAAGGCCTGGATATAGGCCCCACAAAGACACAG
GTGGGGTTAATTCAGTATGCCAATAATCCAAGAGTTGTGTTTAACTTGAACACATATAAAACCAAAGAAGAAATGATTGTAGCAACATCCCAGACATCCCAATAT
GGTGGGGACCTCACAAACACATTCGGAGCAATTCAATATGCAAGAAAATATGCTTATTCAGCAGCTTCTGGTGGGCGACGAAGTGCTACGAAAGTAATGGTAGTT
GTAACTGACGGTGAATCACATGATGGTTCAATGTTGAAAGCTGTGATTGATCAATGCAACCATGACAATATACTGAGGTTTGGCATAGCAGTTCTTGGGTACTTA
AACAGAAACGCCCTTGATACTAAAAATTTAATAAAAGAAATAAAAGCAATCGCTAGTATTCCAACAGAAAGATACTTTTTCAATGTGTCTGATGAAGCAGCTCTA
CTAGAAAAGGCTGGGACATTAGGAGAACAAATTTTCAGCATTGAAGGTACTGTTCAAGGAGGAGACAACTTTCAGATGGAAATGTCACAAGTGGGATTCAGTGCA
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>ITGA2|3673|protein
MGPERTGAAPLPLLLVLALSQGILNCCLAYNVGLPEAKIFSGPSSEQFGYAVQQFINPKGNWLLVGSPWSGFPENRMGDVYKCPVDLSTATCEKLNLQTSTSIPN
VTEMKTNMSLGLILTRNMGTGGFLTCGPLWAQQCGNQYYTTGVCSDISPDFQLSASFSPATQPCPSLIDVVVVCDESNSIYPWDAVKNFLEKFVQGLDIGPTKTQ
VGLIQYANNPRVVFNLNTYKTKEEMIVATSQTSQYGGDLTNTFGAIQYARKYAYSAASGGRRSATKVMVVVTDGESHDGSMLKAVIDQCNHDNILRFGIAVLGYL
NRNALDTKNLIKEIKAIASIPTERYFFNVSDEAALLEKAGTLGEQIFSIEGTVQGGDNFQMEMSQVGFSADYSSQNDILMLGAVGAFGWSGTIVQKTSHGHLIFP
KQAFDQILQDRNHSSYLGYSVAAISTGESTHFVAGAPRANYTGQIVLYSVNENGNITVIQAHRGDQIGSYFGSVLCSVDVDKDTITDVLLVGAPMYMSDLKKEEG
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Evidence summary Top

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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 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 1
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
CAUCASIAN
Hussman, 2011_1 Discovery Illumina Infinium Human 1 M beadship 597 -
(-)
ASD -
-
-
-
Case Control Based Association Studies: 0
Reference Stage Platform ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
CNV Studies Top
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
O'Roak BJ, 2012 1703 209 242 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

Contact 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.

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018