FLVCR2 (FLVCR heme transporter 2)

2007-07-01  

Identity

HGNC
FLVCR2
LOCATION
14q24.3
LOCUSID
55640
ALIAS
C14orf58,CCT,EPV,FLVCRL14q,MFSD7C,PVHH,SLC49A2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 55640
MIM: 610865
HGNC: 20105
Ensembl: ENSG00000119686

Variants:

dbSNP: 55640
ClinVar: 55640
TCGA: ENSG00000119686
COSMIC: FLVCR2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000119686ENST00000238667Q9UPI3
ENSG00000119686ENST00000539311Q9UPI3
ENSG00000119686ENST00000553341G3V5Y3
ENSG00000119686ENST00000553587G3V458
ENSG00000119686ENST00000554580G3V4G2
ENSG00000119686ENST00000555027G3V5P5
ENSG00000119686ENST00000555058G3V391
ENSG00000119686ENST00000556856G3V5Q8

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
383027402024MFSD7c functions as a transporter of choline at the blood-brain barrier.2
386932572024Structural and molecular basis of choline uptake into the brain by FLVCR2.2
387781002024Molecular mechanism of choline and ethanolamine transport in humans.1
383027402024MFSD7c functions as a transporter of choline at the blood-brain barrier.2
386932572024Structural and molecular basis of choline uptake into the brain by FLVCR2.2
387781002024Molecular mechanism of choline and ethanolamine transport in humans.1
323334012020Expanding the clinical spectrum of Fowler syndrome: Three siblings with survival into adulthood and systematic review of the literature.2
329019202020Variability of non-lethal Fowler syndrome phenotype associated with FLVCR2 variants.2
329731832020MFSD7C switches mitochondrial ATP synthesis to thermogenesis in response to heme.18
323334012020Expanding the clinical spectrum of Fowler syndrome: Three siblings with survival into adulthood and systematic review of the literature.2
329019202020Variability of non-lethal Fowler syndrome phenotype associated with FLVCR2 variants.2
329731832020MFSD7C switches mitochondrial ATP synthesis to thermogenesis in response to heme.18
256777352016Mutations in FLVCR2 associated with Fowler syndrome and survival beyond infancy.12
256777352016Mutations in FLVCR2 associated with Fowler syndrome and survival beyond infancy.12
251318042015Hydranencephaly in a newborn with a FLVCR2 mutation and prenatal exposure to cocaine.0

Citation

Dessen P

FLVCR2 (FLVCR heme transporter 2)

Atlas Genet Cytogenet Oncol Haematol. 2007-07-01

Online version: http://atlasgeneticsoncology.org/gene/47618/flvcr2-(flvcr-heme-transporter-2)