| FLVCR2 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | FLVCR2, C14orf58, CCT, EPV, FLVCRL14q, MFSD7C, PVHH, feline leukemia virus subgroup C cellular receptor family member 2, SLC49A2, FLVCR heme transporter 2 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 610865 MGI: 2384974 HomoloGene: 9840 GeneCards: FLVCR2 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Feline leukemia virus subgroup C cellular receptor family, member 2 is a protein that in humans is encoded by the FLVCR2 gene.[5]
Function
This gene encodes a member of the major facilitator superfamily. The encoded transmembrane protein is a calcium transporter. Unlike the related protein feline leukemia virus subgroup C receptor 1 (FLVCR1), the protein encoded by this locus does not bind to feline leukemia virus subgroup C envelope protein. The encoded protein may play a role in development of brain vascular endothelial cells, as mutations at this locus have been associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome.
References
- 1 2 3 GRCh38: Ensembl release 89: ENSG00000119686 - Ensembl, May 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000034258 - Ensembl, May 2017
- ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "Entrez Gene: Feline leukemia virus subgroup C cellular receptor family, member 2". NCBI.
Further reading
- Wimer BM (Feb 1976). "Letter: Remission of lymphoblastic leukaemia". Lancet. 1 (7954): 316. doi:10.1016/s0140-6736(76)91461-6. PMID 55640. S2CID 54424023.
- Brasier G, Tikellis C, Xuereb L, Craigie J, Casley D, Kovacs CS, Fudge NJ, Kalnins R, Cooper ME, Wookey PJ (Feb 2004). "Novel hexad repeats conserved in a putative transporter with restricted expression in cell types associated with growth, calcium exchange and homeostasis". Experimental Cell Research. 293 (1): 31–42. doi:10.1016/j.yexcr.2003.10.002. PMID 14729055.
- Duffy SP, Shing J, Saraon P, Berger LC, Eiden MV, Wilde A, Tailor CS (Nov 2010). "The Fowler syndrome-associated protein FLVCR2 is an importer of heme". Molecular and Cellular Biology. 30 (22): 5318–24. doi:10.1128/MCB.00690-10. PMC 2976379. PMID 20823265.
- Meyer E, Ricketts C, Morgan NV, Morris MR, Pasha S, Tee LJ, Rahman F, Bazin A, Bessières B, Déchelotte P, Yacoubi MT, Al-Adnani M, Marton T, Tannahill D, Trembath RC, Fallet-Bianco C, Cox P, Williams D, Maher ER (Mar 2010). "Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome)". American Journal of Human Genetics. 86 (3): 471–8. doi:10.1016/j.ajhg.2010.02.004. PMC 2833392. PMID 20206334.
- Brown JK, Fung C, Tailor CS (Feb 2006). "Comprehensive mapping of receptor-functioning domains in feline leukemia virus subgroup C receptor FLVCR1". Journal of Virology. 80 (4): 1742–1751. doi:10.1128/JVI.80.4.1742-1751.2006. PMC 1367145. PMID 16439531.
- Thomas S, Encha-Razavi F, Devisme L, Etchevers H, Bessieres-Grattagliano B, Goudefroye G, Elkhartoufi N, Pateau E, Ichkou A, Bonnière M, Marcorelle P, Parent P, Manouvrier S, Holder M, Laquerrière A, Loeuillet L, Roume J, Martinovic J, Mougou-Zerelli S, Gonzales M, Meyer V, Wessner M, Feysot CB, Nitschke P, Leticee N, Munnich A, Lyonnet S, Wookey P, Gyapay G, Foliguet B, Vekemans M, Attié-Bitach T (Oct 2010). "High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy". Human Mutation. 31 (10): 1134–41. doi:10.1002/humu.21329. PMID 20690116. S2CID 20452899.
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