FLVCR2 gene

feline leukemia virus subgroup C cellular receptor family member 2

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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, 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. Alternatively spliced transcript variants have been described.[provided by RefSeq, Aug 2010]

From UniProt:

Acts as an importer of heme. Also acts as a transporter for a calcium-chelator complex, important for growth and calcium metabolism.

From NCBI Gene:

  • Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome

From UniProt:

Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH): A rare prenatally lethal disorder characterized by hydranencephaly, a distinctive glomerular vasculopathy in the central nervous system and retina, and diffuse ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications. Hydranencephaly is a condition where the greater portions of the cerebral hemispheres and corpus striatum are replaced by cerebrospinal fluid and glial tissue. [MIM:225790]

Cytogenetic Location: 14q24.3, which is the long (q) arm of chromosome 14 at position 24.3

Molecular Location: base pairs 75,578,597 to 75,648,169 on chromosome 14 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 14q24.3, which is the long (q) arm of chromosome 14 at position 24.3
  • C14orf58
  • CCT
  • EPV
  • FLVCRL14q
  • MFSD7C
  • PVHH