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ITGA2 integrin subunit alpha 2 [ Homo sapiens (human) ]

Gene ID: 3673, updated on 24-Nov-2020

Summary

Official Symbol
ITGA2provided by HGNC
Official Full Name
integrin subunit alpha 2provided by HGNC
Primary source
HGNC:HGNC:6137
See related
Ensembl:ENSG00000164171 MIM:192974
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
BR; GPIa; CD49B; HPA-5; VLA-2; VLAA2
Summary
This gene encodes the alpha subunit of a transmembrane receptor for collagens and related proteins. The encoded protein forms a heterodimer with a beta subunit and mediates the adhesion of platelets and other cell types to the extracellular matrix. Loss of the encoded protein is associated with bleeding disorder platelet-type 9. Antibodies against this protein are found in several immune disorders, including neonatal alloimmune thrombocytopenia. This gene is located adjacent to a related alpha subunit gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
Expression
Broad expression in skin (RPKM 8.4), adrenal (RPKM 7.9) and 21 other tissues See more
Orthologs

Genomic context

See ITGA2 in Genome Data Viewer
Location:
5q11.2
Exon count:
30
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (52989352..53094779)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (52285156..52390609)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene integrin subunit alpha 1 Neighboring gene B3GNTL1 pseudogene 1 Neighboring gene ribosomal protein L17 pseudogene 21 Neighboring gene uncharacterized LOC257396 Neighboring gene molybdenum cofactor synthesis 2

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
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
GeneReviews: Not available

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
amyloid-beta binding ISS
Inferred from Sequence or Structural Similarity
more info
 
collagen binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
collagen binding involved in cell-matrix adhesion IMP
Inferred from Mutant Phenotype
more info
PubMed 
collagen receptor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
heparan sulfate proteoglycan binding TAS
Traceable Author Statement
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein-containing complex binding IPI
Inferred from Physical Interaction
more info
PubMed 
virus receptor activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
animal organ morphogenesis TAS
Traceable Author Statement
more info
PubMed 
blood coagulation TAS
Traceable Author Statement
more info
PubMed 
cell adhesion TAS
Traceable Author Statement
more info
PubMed 
cell adhesion mediated by integrin IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell-matrix adhesion IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell-substrate adhesion IMP
Inferred from Mutant Phenotype
more info
PubMed 
collagen-activated signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
extracellular matrix organization TAS
Traceable Author Statement
more info
 
integrin-mediated signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
mesodermal cell differentiation IEP
Inferred from Expression Pattern
more info
PubMed 
substrate-dependent cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
viral entry into host cell IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
basal part of cell IEA
Inferred from Electronic Annotation
more info
 
cell surface HDA PubMed 
cell surface IDA
Inferred from Direct Assay
more info
PubMed 
external side of plasma membrane IEA
Inferred from Electronic Annotation
more info
 
focal adhesion HDA PubMed 
focal adhesion IDA
Inferred from Direct Assay
more info
PubMed 
integrin alpha2-beta1 complex IDA
Inferred from Direct Assay
more info
PubMed 
integrin complex TAS
Traceable Author Statement
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
integrin alpha-2
Names
CD49 antigen-like family member B
alpha 2 subunit of VLA-2 receptor
collagen receptor
human platelet alloantigen system 5
integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)
platelet antigen Br
platelet glycoprotein GPIa
platelet membrane glycoprotein Ia
very late activation protein 2 receptor, alpha-2 subunit

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_008330.2 RefSeqGene

    Range
    5027..110454
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_002203.4NP_002194.2  integrin alpha-2 precursor

    See identical proteins and their annotated locations for NP_002194.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the functional protein.
    Source sequence(s)
    AC008966, AU126174, BE048389, BF355124, BG288116, BG494837, BG771368, BM828183, BM979113, BP280760, BP381403, CA442768, CK904145, CN272390, DA343078, DA545055, X17033
    Consensus CDS
    CCDS3957.1
    UniProtKB/Swiss-Prot
    P17301
    Related
    ENSP00000296585.5, ENST00000296585.10
    Conserved Domains (3) summary
    smart00191
    Location:551604
    Int_alpha; Integrin alpha (beta-propellor repeats)
    cd01469
    Location:173353
    vWA_integrins_alpha_subunit; Integrins are a class of adhesion receptors that link the extracellular matrix to the cytoskeleton and cooperate with growth factor receptors to promote celll survival, cell cycle progression and cell migration. Integrins consist of an alpha and a beta ...
    pfam08441
    Location:6551060
    Integrin_alpha2; Integrin alpha

RNA

  1. NR_073103.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC008966, AK307952, BC143505, BP280760, CK904145, X17033
  2. NR_073104.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC008966, AK307952, BC143508, BP280760, CK904145, X17033
  3. NR_073105.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC008966, AK307952, BC143509, BP280760, CK904145, X17033
  4. NR_073106.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC008966, BC143511, BP280760, CK904145, X17033
  5. NR_073107.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC008966, AK307952, BC143512, BP280760, CK904145, X17033

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    52989352..53094779
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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