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FLVCR2
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; OMA:FLVCR2 - orthologs
Gene location (Human) Chr. Chromosome 14 (human) Band 14q24.3 Start 75,578,620 bp End 75,663,214 bp
Gene location (Mouse) Chr. Chromosome 12 (mouse) Band 12|12 D2 Start 85,793,313 bp End 85,860,359 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in secondary oocyte tibial nerve monocyte sperm right testis left testis right adrenal cortex left adrenal cortex mucosa of ileum right lobe of liver Top expressed in retinal pigment epithelium morula morula blastocyst yolk sac spermatid proximal tubule right kidney spermatocyte seminiferous tubule More reference expression data BioGPS n/a
Gene ontology Molecular function heme transmembrane transporter activity heme binding Cellular component integral component of membrane plasma membrane membrane Biological process transmembrane transport heme transport heme export Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 55640 217721 Ensembl ENSG00000119686 ENSMUSG00000034258 UniProt Q9UPI3 Q91X85 RefSeq (mRNA) NM_017791 NM_001195283 NM_145447 RefSeq (protein) NP_001182212 NP_060261 NP_663422 Location (UCSC) Chr 14: 75.58 – 75.66 Mb Chr 12: 85.79 – 85.86 Mb PubMed search
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.

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. ^ GRCh38: Ensembl release 89: ENSG00000119686 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000034258 – Ensembl, 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. "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.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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