FLVCR2

Protein-coding gene in the species Homo sapiens
FLVCR2
Identifiers
AliasesFLVCR2, C14orf58, CCT, EPV, FLVCRL14q, MFSD7C, PVHH, feline leukemia virus subgroup C cellular receptor family member 2, SLC49A2, FLVCR heme transporter 2
External IDsOMIM: 610865; MGI: 2384974; HomoloGene: 9840; GeneCards: FLVCR2; OMA:FLVCR2 - orthologs
Gene location (Human)
Chromosome 14 (human)
Chr.Chromosome 14 (human)[1]
Chromosome 14 (human)
Genomic location for FLVCR2
Genomic location for FLVCR2
Band14q24.3Start75,578,620 bp[1]
End75,663,214 bp[1]
Gene location (Mouse)
Chromosome 12 (mouse)
Chr.Chromosome 12 (mouse)[2]
Chromosome 12 (mouse)
Genomic location for FLVCR2
Genomic location for FLVCR2
Band12|12 D2Start85,793,313 bp[2]
End85,860,359 bp[2]
RNA expression pattern
Bgee
HumanMouse (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
SpeciesHumanMouse
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 MbChr 12: 85.79 – 85.86 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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

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