Endometriosis Knowledgebase

Search Result

Gene id

3673

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

ITGA2 Gene UCSC Ensembl

Aliases

BR, CD49B, GPIa, HPA-5, VLA-2, VLAA2

Gene name

integrin subunit alpha 2

Alternate names

integrin alpha-2, 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,

Gene location

5q11.2 (52989325: 53094778) Exons: 30 NC_000005.10

Gene summary(Entrez)

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]

OMIM

192974

Protein Summary

Protein general information

P17301

Name: Integrin alpha 2 (CD49 antigen like family member B) (Collagen receptor) (Platelet membrane glycoprotein Ia) (GPIa) (VLA 2 subunit alpha) (CD antigen CD49b)

Length: 1181 Mass: 129,295

Sequence

MGPERTGAAPLPLLLVLALSQGILNCCLAYNVGLPEAKIFSGPSSEQFGYAVQQFINPKGNWLLVGSPWSGFPEN
RMGDVYKCPVDLSTATCEKLNLQTSTSIPNVTEMKTNMSLGLILTRNMGTGGFLTCGPLWAQQCGNQYYTTGVCS
DISPDFQLSASFSPATQPCPSLIDVVVVCDESNSIYPWDAVKNFLEKFVQGLDIGPTKTQVGLIQYANNPRVVFN
LNTYKTKEEMIVATSQTSQYGGDLTNTFGAIQYARKYAYSAASGGRRSATKVMVVVTDGESHDGSMLKAVIDQCN
HDNILRFGIAVLGYLNRNALDTKNLIKEIKAIASIPTERYFFNVSDEAALLEKAGTLGEQIFSIEGTVQGGDNFQ
MEMSQVGFSADYSSQNDILMLGAVGAFGWSGTIVQKTSHGHLIFPKQAFDQILQDRNHSSYLGYSVAAISTGEST
HFVAGAPRANYTGQIVLYSVNENGNITVIQAHRGDQIGSYFGSVLCSVDVDKDTITDVLLVGAPMYMSDLKKEEG
RVYLFTIKKGILGQHQFLEGPEGIENTRFGSAIAALSDINMDGFNDVIVGSPLENQNSGAVYIYNGHQGTIRTKY
SQKILGSDGAFRSHLQYFGRSLDGYGDLNGDSITDVSIGAFGQVVQLWSQSIADVAIEASFTPEKITLVNKNAQI
ILKLCFSAKFRPTKQNNQVAIVYNITLDADGFSSRVTSRGLFKENNERCLQKNMVVNQAQSCPEHIIYIQEPSDV
VNSLDLRVDISLENPGTSPALEAYSETAKVFSIPFHKDCGEDGLCISDLVLDVRQIPAAQEQPFIVSNQNKRLTF
SVTLKNKRESAYNTGIVVDFSENLFFASFSLPVDGTEVTCQVAASQKSVACDVGYPALKREQQVTFTINFDFNLQ
NLQNQASLSFQALSESQEENKADNLVNLKIPLLYDAEIHLTRSTNINFYEISSDGNVPSIVHSFEDVGPKFIFSL
KVTTGSVPVSMATVIIHIPQYTKEKNPLMYLTGVQTDKAGDISCNADINPLKIGQTSSSVSFKSENFRHTKELNC
RTASCSNVTCWLKDVHMKGEYFVNVTTRIWNGTFASSTFQTVQLTAAAEINTYNPEIYVIEDNTVTIPLMIMKPD
EKAEVPTGVIIGSIIAGILLLLALVAILWKLGFFKRKYEKMTKNPDEIDETTELSS

Structural information

Protein Domains	VWFA. (188-365)
Motifs	GFFKR motif.(1157-1161)
Interpro:	IPR013517 IPR013519 IPR000413 IPR013649 IPR018184 IPR032695 IPR002035
Prosite:	PS51470 PS00242 PS50234
Pfam:	PF01839 PF08441 PF00092
PDB:	1AOX 1DZI 1PQB 1V7P 4BJ3
PDBsum:	1AOX 1DZI 1PQB 1V7P 4BJ3
DIP:	67
MINT:	5004079
STRING:	ENSP00000296585;

Other Databases

GeneCards: ITGA2; Malacards: ITGA2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001618	virus receptor activity	IEA	molecular_function
GO:0001666	response to hypoxia	IEA	biological_process
GO:0002687	positive regulation of le ukocyte migration	IEA	biological_process
GO:0005178	integrin binding	IEA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005518	collagen binding	IMP	molecular_function
GO:0005634	nucleus	IEA	cellular_component
GO:0005886	plasma membrane	IDA	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005925	focal adhesion	IDA	cellular_component
GO:0005925	focal adhesion	IDA	cellular_component
GO:0006929	substrate-dependent cell migration	IMP	biological_process
GO:0006971	hypotonic response	IEA	biological_process
GO:0007155	cell adhesion	TAS	biological_process
GO:0007155	cell adhesion	TAS	biological_process
GO:0007160	cell-matrix adhesion	IMP	biological_process
GO:0007160	cell-matrix adhesion	IMP	biological_process
GO:0007229	integrin-mediated signali ng pathway	IMP	biological_process
GO:0007565	female pregnancy	IEA	biological_process
GO:0007596	blood coagulation	TAS	biological_process
GO:0008283	cell proliferation	IEA	biological_process
GO:0008305	integrin complex	TAS	cellular_component
GO:0009887	animal organ morphogenesi s	TAS	biological_process
GO:0009897	external side of plasma m embrane	IEA	cellular_component
GO:0009986	cell surface	IDA	cellular_component
GO:0009986	cell surface	IDA	cellular_component
GO:0009986	cell surface	IDA	cellular_component
GO:0009986	cell surface	IDA	cellular_component
GO:0009986	cell surface	IDA	cellular_component
GO:0009986	cell surface	IDA	cellular_component
GO:0010634	positive regulation of ep ithelial cell migration	IEA	biological_process
GO:0010694	positive regulation of al kaline phosphatase activi ty	IEA	biological_process
GO:0014075	response to amine	IEA	biological_process
GO:0014850	response to muscle activi ty	IEA	biological_process
GO:0014911	positive regulation of sm ooth muscle cell migratio n	IEA	biological_process
GO:0030198	extracellular matrix orga nization	TAS	biological_process
GO:0030879	mammary gland development	IEA	biological_process
GO:0031346	positive regulation of ce ll projection organizatio n	IEA	biological_process
GO:0031589	cell-substrate adhesion	IMP	biological_process
GO:0032403	protein complex binding	IPI	molecular_function
GO:0032967	positive regulation of co llagen biosynthetic proce ss	IEA	biological_process
GO:0033343	positive regulation of co llagen binding	IEA	biological_process
GO:0033591	response to L-ascorbic ac id	IEA	biological_process
GO:0033627	cell adhesion mediated by integrin	IMP	biological_process
GO:0034666	integrin alpha2-beta1 com plex	IDA	cellular_component
GO:0038064	collagen receptor activit y	IMP	molecular_function
GO:0038065	collagen-activated signal ing pathway	IMP	biological_process
GO:0042493	response to drug	IEA	biological_process
GO:0043236	laminin binding	IEA	molecular_function
GO:0043388	positive regulation of DN A binding	IEA	biological_process
GO:0043589	skin morphogenesis	IEA	biological_process
GO:0043679	axon terminus	IEA	cellular_component
GO:0045178	basal part of cell	IEA	cellular_component
GO:0045184	establishment of protein localization	IEA	biological_process
GO:0045727	positive regulation of tr anslation	IEA	biological_process
GO:0045785	positive regulation of ce ll adhesion	IEA	biological_process
GO:0045987	positive regulation of sm ooth muscle contraction	IEA	biological_process
GO:0046718	viral entry into host cel l	IEA	biological_process
GO:0046872	metal ion binding	IEA	molecular_function
GO:0046982	protein heterodimerizatio n activity	IEA	molecular_function
GO:0048041	focal adhesion assembly	IEA	biological_process
GO:0048333	mesodermal cell different iation	IEP	biological_process
GO:0048471	perinuclear region of cyt oplasm	IEA	cellular_component
GO:0048661	positive regulation of sm ooth muscle cell prolifer ation	IEA	biological_process
GO:0050729	positive regulation of in flammatory response	IEA	biological_process
GO:0050927	positive regulation of po sitive chemotaxis	IEA	biological_process
GO:0050966	detection of mechanical s timulus involved in senso ry perception of pain	IEA	biological_process
GO:0051971	positive regulation of tr ansmission of nerve impul se	IEA	biological_process
GO:0060100	positive regulation of ph agocytosis, engulfment	IEA	biological_process
GO:0070365	hepatocyte differentiatio n	IEA	biological_process
GO:0071107	response to parathyroid h ormone	IEA	biological_process
GO:0071260	cellular response to mech anical stimulus	IEA	biological_process
GO:0071392	cellular response to estr adiol stimulus	IEA	biological_process
GO:0098639	collagen binding involved in cell-matrix adhesion	IMP	molecular_function
GO:0001618	virus receptor activity	IEA	molecular_function
GO:0001666	response to hypoxia	IEA	biological_process
GO:0002687	positive regulation of le ukocyte migration	IEA	biological_process
GO:0005178	integrin binding	IEA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005518	collagen binding	IEA	molecular_function
GO:0005518	collagen binding	IMP	molecular_function
GO:0005518	collagen binding	TAS	molecular_function
GO:0005634	nucleus	IEA	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	IDA	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005925	focal adhesion	IEA	cellular_component
GO:0005925	focal adhesion	IDA	cellular_component
GO:0005925	focal adhesion	IDA	cellular_component
GO:0006929	substrate-dependent cell migration	IMP	biological_process
GO:0006971	hypotonic response	IEA	biological_process
GO:0007155	cell adhesion	IEA	biological_process
GO:0007155	cell adhesion	IEA	biological_process
GO:0007155	cell adhesion	TAS	biological_process
GO:0007155	cell adhesion	TAS	biological_process
GO:0007160	cell-matrix adhesion	IMP	biological_process
GO:0007160	cell-matrix adhesion	IMP	biological_process
GO:0007160	cell-matrix adhesion	TAS	biological_process
GO:0007229	integrin-mediated signali ng pathway	IEA	biological_process
GO:0007229	integrin-mediated signali ng pathway	IMP	biological_process
GO:0007565	female pregnancy	IEA	biological_process
GO:0007596	blood coagulation	TAS	biological_process
GO:0008283	cell proliferation	IEA	biological_process
GO:0008305	integrin complex	IEA	cellular_component
GO:0008305	integrin complex	TAS	cellular_component
GO:0009887	animal organ morphogenesi s	TAS	biological_process
GO:0009897	external side of plasma m embrane	IEA	cellular_component
GO:0009986	cell surface	IEA	cellular_component
GO:0009986	cell surface	IDA	cellular_component
GO:0009986	cell surface	IDA	cellular_component
GO:0009986	cell surface	IDA	cellular_component
GO:0009986	cell surface	IDA	cellular_component
GO:0009986	cell surface	IDA	cellular_component
GO:0009986	cell surface	IDA	cellular_component
GO:0010634	positive regulation of ep ithelial cell migration	IEA	biological_process
GO:0010694	positive regulation of al kaline phosphatase activi ty	IEA	biological_process
GO:0014070	response to organic cycli c compound	IEA	biological_process
GO:0014075	response to amine	IEA	biological_process
GO:0014850	response to muscle activi ty	IEA	biological_process
GO:0014911	positive regulation of sm ooth muscle cell migratio n	IEA	biological_process
GO:0016020	membrane	IEA	cellular_component
GO:0016020	membrane	IEA	cellular_component
GO:0016021	integral component of mem brane	IEA	cellular_component
GO:0016032	viral process	IEA	biological_process
GO:0030198	extracellular matrix orga nization	TAS	biological_process
GO:0030424	axon	IEA	cellular_component
GO:0030879	mammary gland development	IEA	biological_process
GO:0031346	positive regulation of ce ll projection organizatio n	IEA	biological_process
GO:0031589	cell-substrate adhesion	IMP	biological_process
GO:0032403	protein complex binding	IEA	molecular_function
GO:0032403	protein complex binding	IPI	molecular_function
GO:0032967	positive regulation of co llagen biosynthetic proce ss	IEA	biological_process
GO:0033343	positive regulation of co llagen binding	IEA	biological_process
GO:0033591	response to L-ascorbic ac id	IEA	biological_process
GO:0033627	cell adhesion mediated by integrin	IMP	biological_process
GO:0034666	integrin alpha2-beta1 com plex	IDA	cellular_component
GO:0038064	collagen receptor activit y	IMP	molecular_function
GO:0038065	collagen-activated signal ing pathway	IMP	biological_process
GO:0042060	wound healing	IEA	biological_process
GO:0042493	response to drug	IEA	biological_process
GO:0042995	cell projection	IEA	cellular_component
GO:0043236	laminin binding	IEA	molecular_function
GO:0043388	positive regulation of DN A binding	IEA	biological_process
GO:0043589	skin morphogenesis	IEA	biological_process
GO:0043679	axon terminus	IEA	cellular_component
GO:0045178	basal part of cell	IEA	cellular_component
GO:0045184	establishment of protein localization	IEA	biological_process
GO:0045727	positive regulation of tr anslation	IEA	biological_process
GO:0045785	positive regulation of ce ll adhesion	IEA	biological_process
GO:0045987	positive regulation of sm ooth muscle contraction	IEA	biological_process
GO:0046718	viral entry into host cel l	IEA	biological_process
GO:0046872	metal ion binding	IEA	molecular_function
GO:0046982	protein heterodimerizatio n activity	IEA	molecular_function
GO:0048041	focal adhesion assembly	IEA	biological_process
GO:0048333	mesodermal cell different iation	IEP	biological_process
GO:0048471	perinuclear region of cyt oplasm	IEA	cellular_component
GO:0048661	positive regulation of sm ooth muscle cell prolifer ation	IEA	biological_process
GO:0050729	positive regulation of in flammatory response	IEA	biological_process
GO:0050927	positive regulation of po sitive chemotaxis	IEA	biological_process
GO:0050966	detection of mechanical s timulus involved in senso ry perception of pain	IEA	biological_process
GO:0051971	positive regulation of tr ansmission of nerve impul se	IEA	biological_process
GO:0060100	positive regulation of ph agocytosis, engulfment	IEA	biological_process
GO:0070365	hepatocyte differentiatio n	IEA	biological_process
GO:0071107	response to parathyroid h ormone	IEA	biological_process
GO:0071260	cellular response to mech anical stimulus	IEA	biological_process
GO:0071392	cellular response to estr adiol stimulus	IEA	biological_process
GO:0071407	cellular response to orga nic cyclic compound	IEA	biological_process
GO:0098639	collagen binding involved in cell-matrix adhesion	IMP	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005518	collagen binding	IMP	molecular_function
GO:0005518	collagen binding	TAS	molecular_function
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	IDA	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005925	focal adhesion	IDA	cellular_component
GO:0005925	focal adhesion	IDA	cellular_component
GO:0006929	substrate-dependent cell migration	IMP	biological_process
GO:0007155	cell adhesion	TAS	biological_process
GO:0007155	cell adhesion	TAS	biological_process
GO:0007160	cell-matrix adhesion	IMP	biological_process
GO:0007160	cell-matrix adhesion	IMP	biological_process
GO:0007160	cell-matrix adhesion	TAS	biological_process
GO:0007229	integrin-mediated signali ng pathway	IMP	biological_process
GO:0007596	blood coagulation	TAS	biological_process
GO:0008305	integrin complex	TAS	cellular_component
GO:0009887	animal organ morphogenesi s	TAS	biological_process
GO:0009986	cell surface	IDA	cellular_component
GO:0009986	cell surface	IDA	cellular_component
GO:0009986	cell surface	IDA	cellular_component
GO:0009986	cell surface	IDA	cellular_component
GO:0009986	cell surface	IDA	cellular_component
GO:0009986	cell surface	IDA	cellular_component
GO:0030198	extracellular matrix orga nization	TAS	biological_process
GO:0031589	cell-substrate adhesion	IMP	biological_process
GO:0032403	protein complex binding	IPI	molecular_function
GO:0033627	cell adhesion mediated by integrin	IMP	biological_process
GO:0034666	integrin alpha2-beta1 com plex	IDA	cellular_component
GO:0038064	collagen receptor activit y	IMP	molecular_function
GO:0038065	collagen-activated signal ing pathway	IMP	biological_process
GO:0048333	mesodermal cell different iation	IEP	biological_process
GO:0098639	collagen binding involved in cell-matrix adhesion	IMP	molecular_function

KEGG pathways

hsa05200  Pathways in cancer
hsa04151  PI3K-Akt signaling pathway
hsa05205  Proteoglycans in cancer
hsa04510  Focal adhesion
hsa04810  Regulation of actin cytoskeleton
hsa04145  Phagosome
hsa04640  Hematopoietic cell lineage
hsa05222  Small cell lung cancer
hsa04611  Platelet activation
hsa05410  Hypertrophic cardiomyopathy
hsa04512  ECM-receptor interaction
hsa05414  Dilated cardiomyopathy
hsa05412  Arrhythmogenic right ventricular cardiomyopathy

Diseases

Associated diseases	References
Alzheimer's disease	PMID: 19204726
Amyotrophic lateral sclerosis (ALS)	PMID: 18513389
Behcet's disease	PMID: 12412731
Cerebrovascular disease	PMID: 12871600
Chronic kidney failure	PMID: 19578796
Deep vein thrombosis	PMID: 12412731
Diabetes	PMID: 19587357
Diabetic retinopathy	PMID: 10688808
Endometriosis	PMID: 9392916
Glomerulonephritis	PMID: 19420105
Glycoprotein deficiency	OMIM: 192974
Hemolytic uremic syndrome	PMID: 19110485
Adenomyosis	PMID: 9392916
Migraine disorders	PMID: 19559392
Myocardial infarction	PMID: 12071877
Nephropathy	PMID: 11728949
Platelet aggregation	PMID: 16214444
Adenomyosis	INFBASE9392916
Endometriosis	INFBASE9392916
Preeclampsia	PMID: 12038776
Recurrent miscarriage	PMID: 15630502
Retinal vascular occlusion	PMID: 16157382
Thrombocytopenia	PMID: 12724616
Thrombocytopenia	PMID: 16793669

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
9392916	Endometrio sis			46 (24 patients with endometri osis, 22 patien ts with adenomy osis)		VLA-2 VLA-3 VLA-4 VLA-5 VLA-6 E-cadherin	Show abstract