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

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: mouse all
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Genomic context

Location:: 5q11.2

Exon count:: 30

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (52989352..53094779)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (53817115..53922565)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (52285182..52390609)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Integrin alpha2 promotes immune escape in non-small-cell lung cancer by enhancing PD-L1 expression in exosomes to inhibit CD8 + T-cell activity.
Title: Integrin α2 promotes immune escape in non-small-cell lung cancer by enhancing PD-L1 expression in exosomes to inhibit CD8 + T-cell activity.
High expression ITGA2 affects the expression of MET, PD-L1, CD4 and CD8 with the immune microenvironment in pancreatic cancer patients.
Title: High expression ITGA2 affects the expression of MET, PD-L1, CD4 and CD8 with the immune microenvironment in pancreatic cancer patients.
SDC1 and ITGA2 as novel prognostic biomarkers for PDAC related to IPMN.
Title: SDC1 and ITGA2 as novel prognostic biomarkers for PDAC related to IPMN.
BACH1 promotes lung adenocarcinoma cell metastasis through transcriptional activation of ITGA2.
Title: BACH1 promotes lung adenocarcinoma cell metastasis through transcriptional activation of ITGA2.
Hypomethylation-mediated overexpression of ITGA2 stimulates cell invasion and migration of thyroid carcinoma.
Title: Hypomethylation-mediated overexpression of ITGA2 stimulates cell invasion and migration of thyroid carcinoma.
Macrophages Promote Ovarian Cancer-Mesothelial Cell Adhesion by Upregulation of ITGA2 and VEGFC in Mesothelial Cells.
Title: Macrophages Promote Ovarian Cancer-Mesothelial Cell Adhesion by Upregulation of ITGA2 and VEGFC in Mesothelial Cells.
Integrin alpha 2 is associated with tumor progression and postoperative recurrence in non-small cell lung cancer.
Title: Integrin alpha 2 is associated with tumor progression and postoperative recurrence in non-small cell lung cancer.
The effects of inhibition and siRNA knockdown of collagen-binding integrins on human umbilical vein endothelial cell migration and tube formation.
Title: The effects of inhibition and siRNA knockdown of collagen-binding integrins on human umbilical vein endothelial cell migration and tube formation.
Elevated ITGA2 expression promotes collagen type I-induced clonogenic growth of intrahepatic cholangiocarcinoma.
Title: Elevated ITGA2 expression promotes collagen type I-induced clonogenic growth of intrahepatic cholangiocarcinoma.
ITGA2 induces STING expression in pancreatic cancer by inducing DNMT1 degradation.
Title: ITGA2 induces STING expression in pancreatic cancer by inducing DNMT1 degradation.

Submit: New GeneRIF Correction See all GeneRIFs (262)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-142139 (e-PCR)
- UniSTS:171280

D5S2427 (e-PCR)
- UniSTS:8728

D5S623 (e-PCR), detects polymorphism
- UniSTS:41003

RH66001 (e-PCR)
- UniSTS:92732

D5S623 (e-PCR), detects polymorphism
- UniSTS:79945

SHGC-14947 (e-PCR)
- UniSTS:2404

D5S623 (e-PCR), detects polymorphism
- UniSTS:86177

D11S2612 (e-PCR)
- UniSTS:70572

RH75317 (e-PCR)
- UniSTS:85721

SGC32937 (e-PCR)
- UniSTS:1771

Itga2 (e-PCR), detects polymorphism
- UniSTS:143609

Itga2 (e-PCR), detects polymorphism
- UniSTS:143611

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables amyloid-beta binding	ISS Inferred from Sequence or Structural Similarity more info
enables collagen binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables collagen binding involved in cell-matrix adhesion	IMP Inferred from Mutant Phenotype more info	PubMed
enables collagen receptor activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables heparan sulfate proteoglycan binding	TAS Traceable Author Statement more info	PubMed
enables integrin binding	IBA Inferred from Biological aspect of Ancestor more info
enables laminin binding	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	IPI Inferred from Physical Interaction more info	PubMed
enables virus receptor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in animal organ morphogenesis	TAS Traceable Author Statement more info	PubMed
involved_in blood coagulation	TAS Traceable Author Statement more info	PubMed
involved_in cell adhesion	TAS Traceable Author Statement more info	PubMed
involved_in cell adhesion mediated by integrin	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell adhesion mediated by integrin	IMP Inferred from Mutant Phenotype more info	PubMed
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	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell-substrate adhesion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to estradiol stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to mechanical stimulus	IEA Inferred from Electronic Annotation more info
involved_in collagen-activated signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in detection of mechanical stimulus involved in sensory perception of pain	IEA Inferred from Electronic Annotation more info
involved_in female pregnancy	IEA Inferred from Electronic Annotation more info
involved_in focal adhesion assembly	IEA Inferred from Electronic Annotation more info
involved_in hepatocyte differentiation	IEA Inferred from Electronic Annotation more info
involved_in hypotonic response	IEA Inferred from Electronic Annotation more info
involved_in integrin-mediated signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in integrin-mediated signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mammary gland development	IEA Inferred from Electronic Annotation more info
involved_in mesodermal cell differentiation	IEP Inferred from Expression Pattern more info	PubMed
involved_in positive regulation of cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cell projection organization	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of collagen biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of epithelial cell migration	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of leukocyte migration	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of phagocytosis, engulfment	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of positive chemotaxis	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of smooth muscle cell migration	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of smooth muscle cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of smooth muscle contraction	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of translation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transmission of nerve impulse	IEA Inferred from Electronic Annotation more info
involved_in response to L-ascorbic acid	IEA Inferred from Electronic Annotation more info
involved_in response to amine	IEA Inferred from Electronic Annotation more info
involved_in response to hypoxia	IEA Inferred from Electronic Annotation more info
involved_in response to muscle activity	IEA Inferred from Electronic Annotation more info
involved_in response to parathyroid hormone	IEA Inferred from Electronic Annotation more info
involved_in response to xenobiotic stimulus	IEA Inferred from Electronic Annotation more info
involved_in skin morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in substrate-dependent cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in symbiont entry into host cell	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in axon terminus	IEA Inferred from Electronic Annotation more info
located_in basal part of cell	IEA Inferred from Electronic Annotation more info
located_in cell surface	HDA more info	PubMed
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
is_active_in external side of plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in focal adhesion	HDA more info	PubMed
located_in focal adhesion	IDA Inferred from Direct Assay more info	PubMed
part_of integrin alpha2-beta1 complex	IDA Inferred from Direct Assay more info	PubMed
part_of integrin complex	IBA Inferred from Biological aspect of Ancestor more info
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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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

NG_008330.2 RefSeqGene

Range

5027..110454

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1001

mRNA and Protein(s)

NM_002203.4 → NP_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:551 → 604

Int_alpha; Integrin alpha (beta-propellor repeats)

cd01469
Location:173 → 353

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:655 → 1060

Integrin_alpha2; Integrin alpha

RNA

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
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
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
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
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