ITGA2
entrez
3673
canonical
uniprot
P17301
canonical
ensembl
ENSG00000164171
resolver
ensp
ENSP00000296585
resolver
enst
ENST00000296585
resolver
genesymbol
ITGA2
resolver
genesymbol_syn
CD49B
resolver
hgnc
HGNC:6137
resolver
uniprot
Q14595
resolver
uniprot_entry
ITA2_HUMAN
resolver
uniprot_sec
Q14595
resolver
amino_acid_sequence
MGPERTGAAPLPLLLVLALSQGILNCCLAYNVGLPEAKIFSGPSSEQFGYAVQQFINPKGNWLLVGSPWSGFPENRMGDVYKCPVDLSTATCEKLNLQTSTSIPNVTEMKTNMSLGLILTRNMGTGGFLTCGPLWAQQCGNQYYTTGVCSDISPDFQLSASFSPATQPCPSLIDVVVVCDESNSIYPWDAVKNFLEKFVQGLDIGPTKTQVGLIQYANNPRVVFNLNTYKTKEEMIVATSQTSQYGGDLTNTFGAIQYARKYAYSAASGGRRSATKVMVVVTDGESHDGSMLKAVIDQCNHDNILRFGIAVLGYLNRNALDTKNLIKEIKAIASIPTERYFFNVSDEAALLEKAGTLGEQIFSIEGTVQGGDNFQMEMSQVGFSADYSSQNDILMLGAVGAFGWSGTIVQKTSHGHLIFPKQAFDQILQDRNHSSYLGYSVAAISTGESTHFVAGAPRANYTGQIVLYSVNENGNITVIQAHRGDQIGSYFGSVLCSVDVDKDTITDVLLVGAPMYMSDLKKEEGRVYLFTIKEGILGQHQFLEGPEGIENTRFGSAIAALSDINMDGFNDVIVGSPLENQNSGAVYIYNGHQGTIRTKYSQKILGSDGAFRSHLQYFGRSLDGYGDLNGDSITDVSIGAFGQVVQLWSQSIADVAIEASFTPEKITLVNKNAQIILKLCFSAKFRPTKQNNQVAIVYNITLDADGFSSRVTSRGLFKENNERCLQKNMVVNQAQSCPEHIIYIQEPSDVVNSLDLRVDISLENPGTSPALEAYSETAKVFSIPFHKDCGEDGLCISDLVLDVRQIPAAQEQPFIVSNQNKRLTFSVTLKNKRESAYNTGIVVDFSENLFFASFSLPVDGTEVTCQVAASQKSVACDVGYPALKREQQVTFTINFDFNLQNLQNQASLSFQALSESQEENKADNLVNLKIPLLYDAEIHLTRSTNINFYEISSDGNVPSIVHSFEDVGPKFIFSLKVTTGSVPVSMATVIIHIPQYTKEKNPLMYLTGVQTDKAGDISCNADINPLKIGQTSSSVSFKSENFRHTKELNCRTASCSNVTCWLKDVHMKGEYFVNVTTRIWNGTFASSTFQTVQLTAAAEINTYNPEIYVIEDNTVTIPLMIMKPDEKAEVPTGVIIGSIIAGILLLLALVAILWKLGFFKRKYEKMTKNPDEIDETTELSS
uniprot
proteins
disease_involvement
DISEASE: Fetomaternal alloimmune thrombocytopenia 3 (FMAIT3) [MIM:621267]: A form of fetomaternal alloimmune thrombocytopenia, a bleeding disorder caused by maternal/fetal incompatibility for platelet alloantigens and arising when a fetus inherits a paternal platelet alloantigen that the mother does not possess. During pregnancy, as well as parturition, maternal alloantibodies against paternally-inherited platelet antigens cause destruction of fetal platelets and fetal/neonatal thrombocytopenia. Disease severity and clinical features in the fetus or neonate are heterogeneous. While most fetuses remain asymptomatic, others develop skin bleedings (petechiae) or internal organ bleedings. The most severe symptom is intracranial hemorrhage that is mostly discovered postnatally and can result in neurological complications or even death. Mothers with circulating platelet alloantibodies may experience miscarriage. FMAIT3 transmission pattern is consistent with autosomal dominant paternal inheritance. {ECO:0000269|PubMed:10590055, ECO:0000269|PubMed:1873226, ECO:0000269|PubMed:7901236}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Integrin alpha-2/beta-1 is a receptor for laminin, collagen, collagen C-propeptides, fibronectin and E-cadherin. It recognizes the proline-hydroxylated sequence G-F-P-G-E-R in collagen. It is responsible for adhesion of platelets and other cells to collagens, modulation of collagen and collagenase gene expression, force generation and organization of newly synthesized extracellular matrix.; FUNCTION: (Microbial infection) Integrin ITGA2:ITGB1 acts as a receptor for Human rotavirus A. {ECO:0000269|PubMed:12941907}.; FUNCTION: (Microbial infection) Integrin ITGA2:ITGB1 acts as a receptor for Human echoviruses 1 and 8. {ECO:0000269|PubMed:8411387}.
uniprot
proteins
mass_dalton
129296
uniprot
proteins
mutagenesis
MUTAGEN 1159; /note="F->A: No significant reduction of RAB21-binding by co-immunoprecipitation assay; when associated with A-1160 and A-1162."; /evidence="ECO:0000269|PubMed:16754960"; MUTAGEN 1160; /note="K->A: No effect on RAB21-binding. Significant reduction of RAB21-binding; when associated with A-1161. Shows defective cytokinesis on collagen, but not on fibronectin; when associated with A-1161."; /evidence="ECO:0000269|PubMed:16754960, ECO:0000269|PubMed:18804435"; MUTAGEN 1161; /note="R->A: Significant reduction of RAB21-binding; when associated with A-1160. Shows defective cytokinesis on collagen, but not on fibronectin; when associated with A-1160."; /evidence="ECO:0000269|PubMed:16754960, ECO:0000269|PubMed:18804435"; MUTAGEN 1162; /note="K->A: No significant reduction of RAB21-binding by co-immunoprecipitation assay; when associated with A-1159 and A-1160."; /evidence="ECO:0000269|PubMed:16754960, ECO:0000269|PubMed:18804435"; MUTAGEN 1162; /note="K->P: Markedly weakens RAB21-binding. Shows defective cytokinesis on collagen, but not on fibronectin."; /evidence="ECO:0000269|PubMed:16754960, ECO:0000269|PubMed:18804435"; MUTAGEN 1164; /note="E->A: Significant reduction of RAB21-binding; when associated with A-1160; A-1161 and A-1165."; /evidence="ECO:0000269|PubMed:16754960"; MUTAGEN 1165; /note="K->A: Significant reduction of RAB21-binding; when associated with A-1160; A-1161 and A-1164."; /evidence="ECO:0000269|PubMed:16754960
uniprot
proteins
protein_family
Integrin alpha chain family
uniprot
proteins
pubmed
10590055
uniprot
proteins
pubmed
10744142
uniprot
proteins
pubmed
12941907
uniprot
proteins
pubmed
15372022
uniprot
proteins
pubmed
16263699
uniprot
proteins
pubmed
16754960
uniprot
proteins
pubmed
18088087
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
1873226
uniprot
proteins
pubmed
18804435
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
19349973
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23368983
uniprot
proteins
pubmed
2545729
uniprot
proteins
pubmed
7901236
uniprot
proteins
pubmed
8276836
uniprot
proteins
pubmed
8411387
uniprot
proteins
pubmed
9353312
uniprot
proteins
sequence_length
1181
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
uniprot
proteins
transmembrane_region
TRANSMEM 1133..1154; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins