FLVCR2

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)
End	75,663,214 bp
Gene location (Mouse)
Chr.	Chromosome 12 (mouse)
End	85,860,359 bp
RNA expression pattern
	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
	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
	55640
	217721
	ENSG00000119686
	ENSMUSG00000034258
	Q9UPI3
	Q91X85
	NM_017791; NM_001195283
	NM_145447
	NP_001182212; NP_060261
	NP_663422
	Wikidata
View/Edit Human	View/Edit Mouse

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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000119686 – Ensembl, May 2017
^ ^a ^b ^c 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.

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.

This article on a gene on human chromosome 14 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000119686 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[entrez-5] "Entrez Gene: Feline leukemia virus subgroup C cellular receptor family, member 2". NCBI.

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Function

References

Further reading