FLVCR2 |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- FLVCR2 (HGNC:20105) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- FLVCR choline and putative heme transporter 2
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- C14orf58
- Alias symbols
- FLJ20371, MFSD7C, SLC49A2, CCT
- %HI
- 46.63(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.93(Read more about gnomAD LOEUF score)
- Cytoband
- 14q24.3
- Genomic Coordinates
-
GRCh37/hg19: chr14:76044963-76114510 NCBI Ensembl UCSC GRCh38/hg38: chr14:75578620-75648167 NCBI Ensembl UCSC - MANE Select Transcript
- NM_017791.3 ENST00000238667.9 (Read more about MANE Select)
- Function
- Putative heme b importer/sensor involved in heme homeostasis in response to the metabolic state of the cell and to diet. May act as a sensor of cytosolic and/or mitochondrial heme levels to regulate mitochondrial respiration processes, ATP synthesis and thermogenesis. 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. Upon heme binding, dissociates from ETC compl... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-28642
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- Fowler syndrome Monarch
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000014.8)
(NC_000014.9)