Integrin alpha 2b

(Redirected from ITGA2B)

Integrin alpha-IIb is a protein that in humans is encoded by the ITGA2B gene. ITGA2B, also known as CD41, encodes integrin alpha chain 2b. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. Alpha chain 2b undergoes post-translational cleavage to yield disulfide-linked light and heavy chains that join with beta 3 to form a fibrinogen receptor expressed in platelets that plays a crucial role in coagulation. Mutations that interfere with this role result in thrombasthenia. At least 38 disease-causing mutations in this gene have been discovered.[5] In addition to adhesion, integrins are known to participate in cell-surface mediated signalling.[6]

ITGA2B
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesITGA2B, BDPLT16, BDPLT2, CD41, CD41B, GP2B, GPIIb, GT, GTA, HPA3, PPP1R93, integrin subunit alpha 2b, GT1
External IDsOMIM: 607759; MGI: 96601; HomoloGene: 37304; GeneCards: ITGA2B; OMA:ITGA2B - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000419

NM_010575

RefSeq (protein)

NP_000410

NP_034705

Location (UCSC)Chr 17: 44.37 – 44.39 MbChr 11: 102.34 – 102.36 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Interactions

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ITGA2B has been shown to interact with AUP1[7] and CLNS1A.[8]

See also

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References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000005961Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000034664Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Šimčíková D, Heneberg P (December 2019). "Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases". Scientific Reports. 9 (1): 18577. Bibcode:2019NatSR...918577S. doi:10.1038/s41598-019-54976-4. PMC 6901466. PMID 31819097.
  6. ^ "Entrez Gene: ITGA2B integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)".
  7. ^ Kato A, Kawamata Norihiko, Tamayose Kenji, Egashira Motoki, Miura Rika, Fujimura Tsutomu, Murayama Kimie, Oshimi Kazuo (Aug 2002). "Ancient ubiquitous protein 1 binds to the conserved membrane-proximal sequence of the cytoplasmic tail of the integrin alpha subunits that plays a crucial role in the inside-out signaling of alpha IIbbeta 3". J. Biol. Chem. 277 (32). United States: 28934–41. doi:10.1074/jbc.M204340200. ISSN 0021-9258. PMID 12042322.
  8. ^ Larkin D, Murphy Derek, Reilly Dermot F, Cahill Martha, Sattler Ellen, Harriott Pat, Cahill Dolores J, Moran Niamh (Jun 2004). "ICln, a novel integrin alphaIIbbeta3-associated protein, functionally regulates platelet activation". J. Biol. Chem. 279 (26). United States: 27286–93. doi:10.1074/jbc.M402159200. ISSN 0021-9258. PMID 15075326.

Further reading

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