FLVCR2 Chromosome 14
FLVCR choline and putative heme transporter 2
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What This Gene Does
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]
Gene Info
Gene Group
"MicroRNA protein coding host genes|Solute carrier family 49"
Locus Type
gene with protein product
Location
14q24.3
Ensembl
ENSG00000119686
Associated Conditions (4)
Inborn genetic diseases
Posterior column ataxia-retinitis pigmentosa syndrome
Fowler syndrome
FLVCR2-related disorder
Key Variants
RS143304751
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS188707531
Conflicting classifications of pathogenicity
Posterior column ataxia-retinitis pigmentosa syndrome, Posterior column ataxia-retinitis pigmentosa syndrome
Health Risk
RS199805789
Conflicting classifications of pathogenicity
Posterior column ataxia-retinitis pigmentosa syndrome, Posterior column ataxia-retinitis pigmentosa syndrome
Health Risk
RS199824003
Conflicting classifications of pathogenicity
Fowler syndrome, Inborn genetic diseases, Fowler syndrome
Health Risk
RS750773606
Conflicting classifications of pathogenicity
Fowler syndrome, FLVCR2-related disorder, Fowler syndrome
Health Risk
RS757778790
Conflicting classifications of pathogenicity
Posterior column ataxia-retinitis pigmentosa syndrome, Posterior column ataxia-retinitis pigmentosa syndrome
Health Risk
RS770399681
Conflicting classifications of pathogenicity
Health Risk
RS1594785775
Likely pathogenic
Fowler syndrome, Fowler syndrome
Health Risk
RS780611797
Likely pathogenic
Health Risk
RS138495705
Pathogenic
Fowler syndrome, Fowler syndrome
Health Risk
RS267606822
Pathogenic
Fowler syndrome, Fowler syndrome
Health Risk
RS267606823
Pathogenic
Fowler syndrome, Fowler syndrome
Health Risk
All Variants (20)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS143304751 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS188707531 | Health Risk | Conflicting classifications of pathogenicity | Posterior column ataxia-retinitis pigmentosa syndrome, Posterior column ataxia-retinitis pigmentosa syndrome |
| RS199805789 | Health Risk | Conflicting classifications of pathogenicity | Posterior column ataxia-retinitis pigmentosa syndrome, Posterior column ataxia-retinitis pigmentosa syndrome |
| RS199824003 | Health Risk | Conflicting classifications of pathogenicity | Fowler syndrome, Inborn genetic diseases, Fowler syndrome |
| RS750773606 | Health Risk | Conflicting classifications of pathogenicity | Fowler syndrome, FLVCR2-related disorder, Fowler syndrome |
| RS757778790 | Health Risk | Conflicting classifications of pathogenicity | Posterior column ataxia-retinitis pigmentosa syndrome, Posterior column ataxia-retinitis pigmentosa syndrome |
| RS770399681 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1594785775 | Health Risk | Likely pathogenic | Fowler syndrome, Fowler syndrome |
| RS780611797 | Health Risk | Likely pathogenic | — |
| RS138495705 | Health Risk | Pathogenic | Fowler syndrome, Fowler syndrome |
| RS267606822 | Health Risk | Pathogenic | Fowler syndrome, Fowler syndrome |
| RS267606823 | Health Risk | Pathogenic | Fowler syndrome, Fowler syndrome |
| RS267606824 | Health Risk | Pathogenic | Fowler syndrome, Fowler syndrome |
| RS267606825 | Health Risk | Pathogenic | Fowler syndrome, Fowler syndrome, Fowler syndrome |
| RS746459536 | Health Risk | Pathogenic | Fowler syndrome, Fowler syndrome |
| RS748711517 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS759296326 | Health Risk | Pathogenic | Fowler syndrome, Fowler syndrome |
| RS759469907 | Health Risk | Pathogenic | — |
| RS780523767 | Health Risk | Pathogenic | Fowler syndrome, Fowler syndrome |
| RS2504063396 | Health Risk | Pathogenic/Likely pathogenic | Fowler syndrome, Fowler syndrome |