AutismKB 2.0

Annotation Detail for ITGAV


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Basic Information Top
Gene Symbol:ITGAV ( CD51,DKFZp686A08142,MSK8,VNRA )
Gene Full Name: integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)
Band: 2q32.1
Quick LinksEntrez ID:3685; OMIM: 193210; Uniprot ID:ITAV_HUMAN; ENSEMBL ID: ENSG00000138448; HGNC ID: 6150
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
74N-linked (GlcNAc...).
290N-linked (GlcNAc...) (Potential).
296N-linked (GlcNAc...) (Potential).
488N-linked (GlcNAc...) (Potential).
554N-linked (GlcNAc...) (Potential).
615N-linked (GlcNAc...).
704N-linked (GlcNAc...).
835N-linked (GlcNAc...) (Potential).
851N-linked (GlcNAc...) (Potential).
874N-linked (GlcNAc...).
945N-linked (GlcNAc...) (Potential).
973N-linked (GlcNAc...) (Potential).
980N-linked (GlcNAc...) (Potential).
1023GFFKR motif.
Location(AA) Modifications Resource
74N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
290N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
296N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
488N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
554N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
615N-linked (GlcNAc...).Swiss-Prot 53.0
704N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
835N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
851N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
874N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
945N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
973N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
980N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
10MethylarginineHMM predict
41Phosphotyrosine(SRC)HMM predict
41Phosphotyrosine(INSR)HMM predict
74N-linkedHMM predict
296N-linkedHMM predict
320Phosphotyrosine(EGFR)HMM predict
320Phosphotyrosine(Syk)HMM predict
449Phosphotyrosine(EGFR)HMM predict
488N-linkedHMM predict
548Phosphoserine(CDC2)HMM predict
548Phosphoserine(ATM)HMM predict
548Phosphoserine(CDK)HMM predict
550PhosphoserineHMM predict
552Phosphoserine(PKA)HMM predict
554N-linkedHMM predict
669Phosphotyrosine(EGFR)HMM predict
704N-linkedHMM predict
779Phosphoserine(CDC2)HMM predict
835N-linkedHMM predict
836N-linkedHMM predict
851N-linkedHMM predict
874N-linkedHMM predict
949Phosphoserine(CK1)HMM predict
949Phosphoserine(PKA)HMM predict
973N-linkedHMM predict
975O-linkedHMM predict
980N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_002210
  • Location:chr2 187163044-187253871
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 187147831 187149087 1256 14586
CTCF G2GSE9613 187162590 187163424 834 38
Fos K562GSE19551 187148317 187148825 508 14474
H3K4me2 HCT116GSE10453 187162123 187162523 400 722
H3K4me3 colorectalcancer 187162123 187162627 504 670
H3ac HepG2E 187161865 187162745 880 740
KLF4 hESGSE17917 187162725 187163055 330 155
P300 T30-glioblastomaGSE21026 187147705 187149323 1618 14531
PHF8 HeLaGSE20725 187162358 187163675 1317 28
Pol2 GM12878GSE19551 187162521 187163517 996 26
SRF HelaGSE8489 187148064 187149491 1427 14267
TFAP2C MCF7GSE21234 187143461 187143967 506 19331
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3K4me3 colorectalcancer 187163571 187164621 1050 0
H3ac HepG2E 187163534 187164799 1265 0
PolII HeLaGSE12783 187161940 187164308 2368 0
Rb QuiescentGSE19898 187163619 187163959 340 0
TAF k562GSE8489 187163608 187165043 1435 0
TFAP2C MCF7GSE21234 187214780 187215054 274 0
hScc1 BcellGSE12603 187162826 187163349 523 0
hScc1 BcellGSE12603 187214463 187215042 579 0
hScc1 CdLSGSE12603 187214463 187215114 651 0
Validated miRNA targets Top
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
15389 mRNA ITGAV chr2 187280305 187371133 494 EST chr2 187370639 187371288Sense/Antisense (SA) pairs

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


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