FLVCR2

Chr 14q24.3

FLVCR choline and putative heme transporter 2

Aliases:: FLJ20371, MFSD7C, SLC49A2, CCT
MANE:: ENST00000238667.9

OMIM: 610865 ↗NCBI: 55640 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

FLVCR2 · Q9UPI3

v62025-08-01

Predicted Aligned Error matrix for FLVCR2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

80.6/ 100

Confident

526 residues

Confidence breakdown

Very high(≥ 90)56%
Confident(70–90)22%
Low(50–70)5%
Very low(< 50)17%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Hydrocephalus
BIALLELIC, autosomal or pseudoautosomal
Inherited white matter disorders
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomal
Cerebral vascular malformations
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Fowler syndrome
0.82
hereditary disease
0.41
Increased total eosinophil count
0.25
sialolithiasis
0.25
bilirubin metabolism disease
0.24
posterior column ataxia-retinitis pigmentosa syndrome
0.19
multiple sclerosis
0.10
Parkinson disease
0.08
acute myeloid leukemia
0.08
cancer
0.07

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Choline/ethanolamine transporter FLVCR2

Choline uniporter that specifically mediates choline uptake at the blood-brain-barrier (PubMed:38302740, PubMed:38778100, PubMed:40972734). Responsible for the majority of choline uptake across the blood-brain-barrier from the circulation into the brain (By similarity). Choline, a nutrient critical for brain development, is a precursor of phosphatidylcholine, as well as betaine (By similarity). Also mediates transport of ethanolamine (PubMed:38778100). Choline and ethanolamine transport is not coupled with proton transport and is exclusively driven by the choline gradient across the plasma membrane (PubMed:38778100). However, the presence of an inwardly directed proton gradient enhances choline uptake (By similarity). Also acts as a heme b transporter (PubMed:20823265, PubMed:32973183). Required to regulate mitochondrial respiration processes, ATP synthesis and thermogenesis (PubMed:32973183). At low heme levels, interacts with components of electron transfer chain (ETC) complexes and ATP2A2, leading to ubiquitin-mediated degradation of ATP2A2 and inhibition of thermogenesis (PubMed:32973183). Upon heme binding, dissociates from ETC complexes to allow switching from mitochondrial ATP synthesis to thermogenesis (PubMed:32973183)