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

Gene ID: 3673, updated on 5-Jan-2025

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; AllianceGenome:HGNC:6137
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
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Genomic context

See ITGA2 in Genome Data Viewer
Location:
5q11.2
Exon count:
30
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (52989352..53094779)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (53817115..53922565)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (52285182..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 ITGA2 antisense RNA 1 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:52283322-52284521 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16003 Neighboring gene uncharacterized LOC124900974 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16004 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16005 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:52409973-52410472 Neighboring gene MOCS2 divergent transcript Neighboring gene molybdenum cofactor synthesis 2

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
EBI GWAS Catalog

Pathways from PubChem

Interactions

General gene information

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables amyloid-beta binding  
enables collagen binding PubMed 
enables collagen binding involved in cell-matrix adhesion PubMed 
enables collagen receptor activity PubMed 
enables heparan sulfate proteoglycan binding PubMed 
enables integrin binding  
enables laminin binding  
enables metal ion binding  
enables protein binding PubMed 
enables protein-containing complex binding PubMed 
enables virus receptor activity  
Items 1 - 25 of 45
Process Evidence Code Pubs
involved_in animal organ morphogenesis PubMed 
involved_in blood coagulation PubMed 
involved_in cell adhesion PubMed 
involved_in cell adhesion mediated by integrin  
involved_in cell adhesion mediated by integrin PubMed 
involved_in cell-cell adhesion  
involved_in cell-matrix adhesion  
involved_in cell-matrix adhesion PubMed 
involved_in cell-matrix adhesion PubMed 
involved_in cell-substrate adhesion PubMed 
involved_in cellular response to estradiol stimulus  
involved_in cellular response to mechanical stimulus  
involved_in collagen-activated signaling pathway PubMed 
involved_in detection of mechanical stimulus involved in sensory perception of pain  
involved_in extracellular matrix organization PubMed 
involved_in female pregnancy  
involved_in focal adhesion assembly  
involved_in hepatocyte differentiation  
involved_in hypotonic response  
involved_in integrin-mediated signaling pathway  
involved_in integrin-mediated signaling pathway PubMed 
involved_in integrin-mediated signaling pathway PubMed 
involved_in mammary gland development  
involved_in mesodermal cell differentiation PubMed 
involved_in positive regulation of cell adhesion  
involved_in positive regulation of cell projection organization  
involved_in positive regulation of collagen biosynthetic process  
involved_in positive regulation of epithelial cell migration  
involved_in positive regulation of leukocyte migration  
involved_in positive regulation of phagocytosis, engulfment  
involved_in positive regulation of positive chemotaxis  
involved_in positive regulation of smooth muscle cell migration  
involved_in positive regulation of smooth muscle cell proliferation  
involved_in positive regulation of smooth muscle contraction  
involved_in positive regulation of translation  
involved_in positive regulation of transmission of nerve impulse  
involved_in response to L-ascorbic acid  
involved_in response to amine  
involved_in response to hypoxia  
involved_in response to muscle activity  
involved_in response to parathyroid hormone  
involved_in response to xenobiotic stimulus  
involved_in skin morphogenesis  
involved_in substrate-dependent cell migration PubMed 
involved_in symbiont entry into host cell  
Items 1 - 25 of 45
Component Evidence Code Pubs
located_in axon terminus  
located_in basal part of cell  
located_in cell surface PubMed 
located_in cell surface PubMed 
is_active_in external side of plasma membrane  
located_in focal adhesion PubMed 
located_in focal adhesion PubMed 
part_of integrin alpha2-beta1 complex PubMed 
part_of integrin alpha2-beta1 complex PubMed 
part_of integrin complex  
located_in perinuclear region of cytoplasm  
located_in plasma membrane PubMed 
located_in plasma membrane  

General protein information

Preferred Names
integrin alpha-2
Names
CD49 antigen-like family member B
alpha 2 integrin
alpha 2 subunit of VLA-2 receptor
collagen receptor
glycoprotein Ia
human platelet alloantigen 5
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
very late activation receptor alpha-2 subunit
very late activation receptor subunit alpha-2

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_008330.2 RefSeqGene

    Range
    5027..110454
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1001

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, Q14595
    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: 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_000005.10 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    53817115..53922565
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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