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