SLCtables

SLC49A2

Protein name: FLVCR2 Aliases: MFSD7C, CCT, EPV, PVHH, FLVCRL14q Substrates: heme Transport type: unknown Tissue and cellular expression: liver, kidney, brain, lung, placenta, fetal liver, bone marrow Subcellular expression: located on the plasma membrane Disease: Fowler syndrome Locus: 14q24.3 Sequence ID: NP_001182212.1, NM_001195283.1 NP_060261.2, NM_017791.2 Gene ID: 55640 Splice variants: a variant transcript differs in the 5'-UTR and uses an alternate start codon, which should encode a shorter hypothetical protein

FLVC2_HUMAN (UniProt)

Gene names: FLVCR2, C14orf58
Protein names and data: FLVC2_HUMAN, Full=Feline leukemia virus subgroup C receptor-related protein 2, Full=Calcium-chelate transporter;Short=CCT; Length: 526 a.a., Mass: 57241 Da,
fasta formatted sequence
Function: Acts as an importer of heme. Also acts as a transporter for a calcium-chelator complex, important for growth and calcium metabolism
Disease: (OMIM: 225790 610865) Defects in FLVCR2 are the cause of proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH) [MIM:225790]. It is 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
Cellular location: Cell membrane; Multi-pass membrane protein
Tissue specificity: Expressed in non-hematopoietic tissues, with relative abundant expression in brain, placenta, lung, liver and kidney. Also expressed in hematopoietic tissues (fetal liver, spleen, lymph node, thymus, leukocytes and bone marrow). Found in acidophil cells of the pituitary that secrete growth hormone and prolactin

Database cross-references

UniProt: Q9UPI3
NextBio: 60326
OMIM: 225790 610865
Ensembl: ENST00000539311
GeneCard: GC14P075578
Guide to Pharmacology: SLC49A2 (1911)
SLC49 family of FLVCR-related heme transporters (1911)
HGNC: HGNC:20105

Genetic variants

See also Ensembl:ENST00000539311

16 - 16 V -> A (in dbSNP:rs2287015). VAR_018271 2287015
84 - 84 R -> H (in PVHH). VAR_064410
110 - 112 NIF -> I (in PVHH). VAR_064411
280 - 280 P -> R (in PVHH). VAR_064043
326 - 326 A -> V (in PVHH). VAR_064412
352 - 352 T -> R (in PVHH). VAR_064413
398 - 398 L -> V (in PVHH). VAR_064044
412 - 412 G -> R (in PVHH). VAR_064414
430 - 430 T -> M (in PVHH). VAR_064415
430 - 430 T -> R (in PVHH). VAR_064045
481 - 481 A -> T (in dbSNP:rs35126362). VAR_050299 35126362