FECH (ferrochelatase)

2016-10-01  

Identity

HGNC
FECH
LOCATION
18q21.31
LOCUSID
2235
ALIAS
EPP,EPP1,FCE
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 2235
MIM: 612386
HGNC: 3647
Ensembl: ENSG00000066926

Variants:

dbSNP: 2235
ClinVar: 2235
TCGA: ENSG00000066926
COSMIC: FECH

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000066926ENST00000262093P22830
ENSG00000066926ENST00000382873A0A499FJN5
ENSG00000066926ENST00000585494K7EJM8
ENSG00000066926ENST00000591977K7EJX5
ENSG00000066926ENST00000592699K7ELX4
ENSG00000066926ENST00000652755P22830

Expression (GTEx)

0
5
10
15
20
25
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

Pathways

PathwaySourceExternal ID
Porphyrin and chlorophyll metabolismKEGGko00860
Porphyrin and chlorophyll metabolismKEGGhsa00860
Metabolic pathwaysKEGGhsa01100
MetabolismREACTOMER-HSA-1430728
Metabolism of porphyrinsREACTOMER-HSA-189445
Heme biosynthesisREACTOMER-HSA-189451

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
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
345818212021Cockayne syndrome group A and ferrochelatase finely tune ribosomal gene transcription and its response to UV irradiation.5
346867262021Nkx3-1 and Fech genes might be switch genes involved in pituitary non-functioning adenoma invasiveness.4
345818212021Cockayne syndrome group A and ferrochelatase finely tune ribosomal gene transcription and its response to UV irradiation.5
346867262021Nkx3-1 and Fech genes might be switch genes involved in pituitary non-functioning adenoma invasiveness.4
312733442020Targeted resequencing of FECH locus reveals that a novel deep intronic pathogenic variant and eQTLs may cause erythropoietic protoporphyria (EPP) through a methylation-dependent mechanism.7
320562582020Novel mutation of the ferrochelatase gene in a Japanese family with erythropoietic protoporphyria.1
312733442020Targeted resequencing of FECH locus reveals that a novel deep intronic pathogenic variant and eQTLs may cause erythropoietic protoporphyria (EPP) through a methylation-dependent mechanism.7
320562582020Novel mutation of the ferrochelatase gene in a Japanese family with erythropoietic protoporphyria.1
303911632019Strong correlation of ferrochelatase enzymatic activity with Mitoferrin-1 mRNA in lymphoblasts of patients with protoporphyria.5
304038212019Admixture mapping identifies novel loci for obstructive sleep apnea in Hispanic/Latino Americans.28
304548682019Congenital erythropoietic porphyria and erythropoietic protoporphyria: Identification of 7 uroporphyrinogen III synthase and 20 ferrochelatase novel mutations.4
307672262019Ferrochelatase Deficiency Abrogated the Enhancement of Aminolevulinic Acid-mediated Protoporphyrin IX by Iron Chelator Deferoxamine.13
303911632019Strong correlation of ferrochelatase enzymatic activity with Mitoferrin-1 mRNA in lymphoblasts of patients with protoporphyria.5
304038212019Admixture mapping identifies novel loci for obstructive sleep apnea in Hispanic/Latino Americans.28
304548682019Congenital erythropoietic porphyria and erythropoietic protoporphyria: Identification of 7 uroporphyrinogen III synthase and 20 ferrochelatase novel mutations.4

Citation

Dessen P

FECH (ferrochelatase)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56011