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

Gene ID: 3674, updated on 7-Jun-2020

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
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; 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

Genomic context

See ITGA2B in Genome Data Viewer
Location:
17q21.31
Exon count:
30
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (44372181..44389649, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (42449550..42466873, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 171 member A2 Neighboring gene ribosomal protein L7 like 1 pseudogene 5 Neighboring gene G-patch domain containing 8 Neighboring gene RNA, 7SL, cytoplasmic 258, pseudogene Neighboring gene uncharacterized LOC105371791

Genomic regions, transcripts, and products

Expression

  • Project title: 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
MedGen: C0040015 OMIM: 273800 GeneReviews: Not available
Compare labs
Platelet-type bleeding disorder 16
MedGen: C1861195 OMIM: 187800 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
New gene functions in megakaryopoiesis and platelet formation.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
extracellular matrix binding IEA
Inferred from Electronic Annotation
more info
 
fibrinogen binding IEA
Inferred from Electronic Annotation
more info
 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cell-matrix adhesion IEA
Inferred from Electronic Annotation
more info
 
extracellular matrix organization TAS
Traceable Author Statement
more info
 
integrin-mediated signaling pathway HDA PubMed 
platelet aggregation IEA
Inferred from Electronic Annotation
more info
 
platelet degranulation TAS
Traceable Author Statement
more info
 
positive regulation of leukocyte migration IEA
Inferred from Electronic Annotation
more info
 
regulation of megakaryocyte differentiation TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
blood microparticle HDA PubMed 
cell surface HDA PubMed 
external side of plasma membrane IEA
Inferred from Electronic Annotation
more info
 
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
focal adhesion IEA
Inferred from Electronic Annotation
more info
 
integrin complex IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
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)

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
    P08514
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

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

    UniProtKB/Swiss-Prot
    P08514
    Conserved Domains (3) summary
    smart00191
    Location:384438
    Int_alpha; Integrin alpha (beta-propellor repeats)
    pfam00357
    Location:9861000
    Integrin_alpha; Integrin alpha cytoplasmic region
    pfam08441
    Location:481921
    Integrin_alpha2; Integrin alpha
  2. XM_011524750.1XP_011523052.1  integrin alpha-IIb isoform X2

    Related
    ENSP00000498119.1, ENST00000648408.1
    Conserved Domains (2) summary
    smart00191
    Location:384438
    Int_alpha; Integrin alpha (beta-propellor repeats)
    pfam08441
    Location:481921
    Integrin_alpha2; Integrin alpha
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