AutismKB 2.0

Annotation Detail for ITGA2B


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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 LinksEntrez ID:3674; OMIM: 607759; Uniprot ID:ITA2B_HUMAN; ENSEMBL ID: ENSG00000005961; HGNC ID: 6138
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
46N-linked (GlcNAc...).
280N-linked (GlcNAc...).
601N-linked (GlcNAc...).
711N-linked (GlcNAc...).
874O-linked (GalNAc...); in alloantigen HPA-
878O-linked (GalNAc...).
891Pyrrolidone carboxylic acid; in light
962N-linked (GlcNAc...).
1026GFFKR motif.
Location(AA) Modifications Resource
46N-linked (GlcNAc...).Swiss-Prot 53.0
280N-linked (GlcNAc...).Swiss-Prot 53.0
601N-linked (GlcNAc...).Swiss-Prot 53.0
711N-linked (GlcNAc...).Swiss-Prot 53.0
874O-linked (GalNAc...); in alloantigen HPA-3B.Swiss-Prot 53.0
878O-linked (GalNAc...).Swiss-Prot 53.0
962N-linked (GlcNAc...).Swiss-Prot 53.0
Location(AA) Modification Resource
46N-linkedHMM predict
48Phosphoserine(ATM)HMM predict
77Phosphoserine(ATM)HMM predict
87S-palmitoylHMM predict
236Phosphoserine(CK1)HMM predict
253Phosphoserine(IKK)HMM predict
261Phosphotyrosine(INSR)HMM predict
261SulfotyrosineHMM predict
280N-linkedHMM predict
402Phosphotyrosine(INSR)HMM predict
402Phosphotyrosine(Syk)HMM predict
440Phosphoserine(CDC2)HMM predict
463Phosphotyrosine(EGFR)HMM predict
463Phosphotyrosine(INSR)HMM predict
557Phosphoserine(ATM)HMM predict
601N-linkedHMM predict
652Phosphoserine(IKK)HMM predict
676Phosphotyrosine(EGFR)HMM predict
695Phosphoserine(PKG)HMM predict
711N-linkedHMM predict
785Phosphoserine(PKB)HMM predict
838Phosphoserine(ATM)HMM predict
876Phosphoserine(CDK)HMM predict
876Phosphoserine(CDC2)HMM predict
878O-linkedHMM predict
962N-linkedHMM predict
968Phosphotyrosine(Syk)HMM predict
1029ProlineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000419
  • Location:chr17 39805075-39822398
  • strand:-
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 39796670 39796847 177 8317
CTCF CD4SISSRdata 39796670 39796847 177 8317
CTCF JurkatGSE12889 39796689 39796916 227 8273
CTCF G2GSE9613 39796338 39796999 661 8407
PHF8 293TGSE20725 39796168 39797051 883 8466
hScc1 BcellGSE12603 39795963 39796999 1036 8595
hScc1 CdLSGSE12603 39796266 39796917 651 8484
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 39808782 39809454 672 0
CTCF G2GSE9613 39809814 39810058 244 0
CTCF G2GSE9613 39818330 39818551 221 0
TAF k562GSE8489 39815154 39815753 599 0
hScc1 BcellGSE12603 39807822 39808038 216 0
hScc1 BcellGSE12603 39809007 39809454 447 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-101 hsa-mir-101-1 1 16549775
hsa-miR-101 hsa-mir-101-2 9 16549775
hsa-miR-10a hsa-mir-10a 17 16549775
hsa-miR-10a* hsa-mir-10a 17 16549775
hsa-miR-10b hsa-mir-10b 2 16549775
hsa-miR-10b* hsa-mir-10b 2 16549775
hsa-miR-126 hsa-mir-126 9 16549775
hsa-miR-126* hsa-mir-126 9 16549775
hsa-miR-130a hsa-mir-130a 11 16549775
hsa-miR-130a* hsa-mir-130a 11 16549775
hsa-miR-135a hsa-mir-135a-1 3 16549775
hsa-miR-135a hsa-mir-135a-2 12 16549775
hsa-miR-135a* hsa-mir-135a-1 3 16549775
hsa-miR-135b hsa-mir-135b 1 16549775
hsa-miR-135b* hsa-mir-135b 1 16549775
hsa-miR-17 hsa-mir-17 13 16549775
hsa-miR-17* hsa-mir-17 13 16549775
hsa-miR-631 hsa-mir-631 15 20881232
hsa-miR-99a hsa-mir-99a 21 16549775
hsa-miR-99a* hsa-mir-99a 21 16549775
No data
Cis-Nats regulation Top

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