FLVCR2

Chr 14AR

FLVCR choline and putative heme transporter 2

Also known as: C14orf58, CCT, EPV, FLVCRL14q, MFSD7C, PVHH, SLC49A2, SLC49A5

NCBI Gene: 55640 ENSG00000119686 UniProt: Q9UPI3 OMIM: 610865

This gene encodes a choline transporter that mediates choline uptake across the blood-brain barrier, which is critical for brain development, and also functions as a heme transporter involved in mitochondrial respiration and ATP synthesis. Mutations cause proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, a severe developmental brain disorder affecting vascular development and resulting in fluid-filled brain cavities. The condition follows autosomal recessive inheritance and FLVCR2 is highly intolerant to loss-of-function mutations.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Proliferative vasculopathy and hydranencephaly-hydrocephaly syndromeMIM #225790

Clinical highlights

Gene-disease validity (ClinGen)

Fowler syndrome · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.93

LOEUF

LOF

Mechanism· G2P