FLVCR2
Chr 14ARFLVCR choline and putative heme transporter 2
Also known as: C14orf58, CCT, EPV, FLVCRL14q, MFSD7C, PVHH, SLC49A2
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.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
FLVCR2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
External Resources
Links to major genomics databases and tools