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ITGA2B integrin subunit alpha 2b [ Homo sapiens (human) ]

Gene ID: 3674, updated on 19-Sep-2024

Summary

Official Symbol
ITGA2Bprovided by HGNC
Official Full Name
integrin subunit alpha 2bprovided by HGNC
Primary source
HGNC:HGNC:6138
See related
Ensembl:ENSG00000005961 MIM:607759; AllianceGenome:HGNC:6138
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GT; GT1; GTA; CD41; GP2B; HPA3; CD41B; GPIIb; BDPLT2; BDPLT16; PPP1R93
Summary
This gene encodes a member of the integrin alpha chain family of proteins. The encoded preproprotein is proteolytically processed to generate light and heavy chains that associate through disulfide linkages to form a subunit of the alpha-IIb/beta-3 integrin cell adhesion receptor. This receptor plays a crucial role in the blood coagulation system, by mediating platelet aggregation. Mutations in this gene are associated with platelet-type bleeding disorders, which are characterized by a failure of platelet aggregation, including Glanzmann thrombasthenia. [provided by RefSeq, Jan 2016]
Expression
Biased expression in bone marrow (RPKM 6.2), testis (RPKM 1.4) and 8 other tissues See more
Orthologs
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Genomic context

See ITGA2B in Genome Data Viewer
Location:
17q21.31
Exon count:
30
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (44372181..44389649, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (45226172..45243631, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (42449549..42467017, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8590 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8591 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:42438205-42438805 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:42438806-42439405 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8592 Neighboring gene family with sequence similarity 171 member A2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:42446497-42446996 Neighboring gene RPL7L1 pseudogene 5 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:42452529-42453106 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:42456825-42457781 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12261 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12262 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:42474848-42475348 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:42477560-42478023 Neighboring gene G-patch domain containing 8 Neighboring gene RNA, 7SL, cytoplasmic 258, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:42498551-42499524 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12263 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8593 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr17:42588763-42589328 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8594 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8595 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:42610782-42611286 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:42611287-42611790 Neighboring gene uncharacterized LOC105371791

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Glanzmann thrombasthenia 1
MedGen: CN300358 OMIM: 273800 GeneReviews: Not available
Compare labs
Platelet-type bleeding disorder 16
MedGen: C5442010 OMIM: 187800 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
New gene functions in megakaryopoiesis and platelet formation.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables extracellular matrix binding IEA
Inferred from Electronic Annotation
more info
 
enables fibrinogen binding IEA
Inferred from Electronic Annotation
more info
 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables integrin binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables molecular adaptor activity EXP
Inferred from Experiment
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in angiogenesis IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in cell adhesion mediated by integrin IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in cell-cell adhesion IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in cell-matrix adhesion IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in cell-matrix adhesion NAS
Non-traceable Author Statement
more info
PubMed 
involved_in integrin-mediated signaling pathway HDA PubMed 
involved_in integrin-mediated signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in integrin-mediated signaling pathway NAS
Non-traceable Author Statement
more info
PubMed 
involved_in positive regulation of leukocyte migration IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in blood microparticle HDA PubMed 
located_in cell surface HDA PubMed 
is_active_in external side of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in focal adhesion IEA
Inferred from Electronic Annotation
more info
 
part_of integrin alphaIIb-beta3 complex IPI
Inferred from Physical Interaction
more info
PubMed 
part_of integrin complex IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
located_in platelet alpha granule membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
integrin alpha-IIb
Names
GPalpha IIb
alphaIIb protein
integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)
platelet fibrinogen receptor, alpha subunit
platelet glycoprotein IIb of IIb/IIIa complex
platelet membrane glycoprotein IIb
platelet-specific antigen BAK
protein phosphatase 1, regulatory subunit 93

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008331.1 RefSeqGene

    Range
    5001..22324
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_479

mRNA and Protein(s)

  1. NM_000419.5NP_000410.2  integrin alpha-IIb preproprotein

    See identical proteins and their annotated locations for NP_000410.2

    Status: REVIEWED

    Source sequence(s)
    AC007722, BE409167, BM148153, CD175774, J02764, X06831
    Consensus CDS
    CCDS32665.1
    UniProtKB/Swiss-Prot
    B2RCY8, O95366, P08514, Q14443, Q17R67
    Related
    ENSP00000262407.5, ENST00000262407.6
    Conserved Domains (3) summary
    smart00191
    Location:384438
    Int_alpha; Integrin alpha (beta-propellor repeats)
    pfam00357
    Location:10201034
    Integrin_alpha; Integrin alpha cytoplasmic region
    pfam08441
    Location:481921
    Integrin_alpha2; Integrin alpha

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    44372181..44389649 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011524749.2XP_011523051.2  integrin alpha-IIb isoform X1

  2. XM_011524750.2XP_011523052.2  integrin alpha-IIb isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    45226172..45243631 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054315956.1XP_054171931.1  integrin alpha-IIb isoform X1

  2. XM_054315957.1XP_054171932.1  integrin alpha-IIb isoform X2