MECR (mitochondrial trans-2-enoyl-CoA reductase)

2014-11-01  

Identity

HGNC
MECR
LOCATION
1p35.3
LOCUSID
51102
ALIAS
CGI-63,DYTOABG,ETR1,FASN2B,NRBF1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 51102
MIM: 608205
HGNC: 19691
Ensembl: ENSG00000116353

Variants:

dbSNP: 51102
ClinVar: 51102
TCGA: ENSG00000116353
COSMIC: MECR

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000116353ENST00000263702Q9BV79
ENSG00000116353ENST00000373791Q9BV79
ENSG00000116353ENST00000463412H3BM30

Expression (GTEx)

0
5
10
15
20
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
Fatty acid elongationKEGGko00062
Fatty acid elongationKEGGhsa00062
Metabolic pathwaysKEGGhsa01100
Fatty acid biosynthesis, elongation, mitochondriaKEGGhsa_M00085
Fatty acid biosynthesis, elongation, mitochondriaKEGGM00085
Fatty acid metabolismKEGGhsa01212
Fatty acid metabolismKEGGko01212

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
377348472023Recessive MECR pathogenic variants cause an LHON-like optic neuropathy.3
377348472023Recessive MECR pathogenic variants cause an LHON-like optic neuropathy.3
365426562022Alternative splicing liberates a cryptic cytoplasmic isoform of mitochondrial MECR that antagonizes influenza virus.5
365426562022Alternative splicing liberates a cryptic cytoplasmic isoform of mitochondrial MECR that antagonizes influenza virus.5
334010122021Whole exome sequencing identifies a novel homozygous MECR mutation in a Chinese patient with childhood-onset dystonia and basal ganglia abnormalities, without optic atrophy.5
334010122021Whole exome sequencing identifies a novel homozygous MECR mutation in a Chinese patient with childhood-onset dystonia and basal ganglia abnormalities, without optic atrophy.5
278178652016MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder.37
278455782016The Well-Known Gene HHIP and Novel Gene MECR Are Implicated in Small Airway Obstruction.5
278178652016MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder.37
278455782016The Well-Known Gene HHIP and Novel Gene MECR Are Implicated in Small Airway Obstruction.5
241613902013The mitochondrial fatty acid synthesis (mtFASII) pathway is capable of mediating nuclear-mitochondrial cross talk through the PPAR system of transcriptional activation.12
241613902013The mitochondrial fatty acid synthesis (mtFASII) pathway is capable of mediating nuclear-mitochondrial cross talk through the PPAR system of transcriptional activation.12
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
184797072008Structural enzymological studies of 2-enoyl thioester reductase of the human mitochondrial FAS II pathway: new insights into its substrate recognition properties.16

Citation

Dessen P

MECR (mitochondrial trans-2-enoyl-CoA reductase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/68868