Entity Details

Primary name FLVCR2
Entity type gene
Source Source Link

Details

PrimaryID55640
RefseqGeneNG_027694
SymbolFLVCR2
NameFLVCR heme transporter 2
Chromosome14
Location14q24.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-07-03
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsFLVC2_HUMAN

GO terms

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GOName
GO:0005886 plasma membrane
GO:0015232 heme transmembrane transporter activity
GO:0016021 integral component of membrane
GO:0020037 heme binding
GO:0097037 heme export

Diseases

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Disease IDSourceNameDescription
225790 OMIMProliferative 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. The disease is caused by variants affecting the gene represented in this entry.

Interactions

3 interactions

InteractorPartnerSourcesPublicationsLink
FLVCR2EPN1BioGRID, IntAct28514442 details
FLVCR2SHMT2BioGRID22658674 details
FLVCR2NXF1BioGRID22658674 details