ETFA (electron transfer flavoprotein subunit alpha)

2014-08-01   Dessen P  

Identity

HGNC
ETFA
LOCATION
15q24.2
LOCUSID
2108
ALIAS
EMA,GA2,MADD
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 2108
MIM: 608053
HGNC: 3481
Ensembl: ENSG00000140374

Variants:

dbSNP: 2108
ClinVar: 2108
TCGA: ENSG00000140374
COSMIC: ETFA

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000140374ENST00000267950J3KN60
ENSG00000140374ENST00000433983P13804
ENSG00000140374ENST00000557943P13804
ENSG00000140374ENST00000557943A0A0S2Z3L0
ENSG00000140374ENST00000559386H0YKF0
ENSG00000140374ENST00000559602H0YK49
ENSG00000140374ENST00000559973H0YNX6
ENSG00000140374ENST00000560044H0YMU8
ENSG00000140374ENST00000560309H0YMU8
ENSG00000140374ENST00000560345H0YL12
ENSG00000140374ENST00000560595H0YLU7
ENSG00000140374ENST00000560726H0YL83
ENSG00000140374ENST00000560899H0YM12
ENSG00000140374ENST00000565910H3BV91

Expression (GTEx)

0
50
100
150
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
MetabolismREACTOMER-HSA-1430728
The citric acid (TCA) cycle and respiratory electron transportREACTOMER-HSA-1428517
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.REACTOMER-HSA-163200
Respiratory electron transportREACTOMER-HSA-611105

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
385563402024Platelet Microparticle-Derived MiR-320b Inhibits Hypertension with Atherosclerosis Development by Targeting ETFA.0
385563402024Platelet Microparticle-Derived MiR-320b Inhibits Hypertension with Atherosclerosis Development by Targeting ETFA.0
344055372021NBPF4 mitigates progression in colorectal cancer through the regulation of EZH2-associated ETFA.3
347044212021Screening of multiple acyl-CoA dehydrogenase deficiency in newborns and follow-up of patients.5
344055372021NBPF4 mitigates progression in colorectal cancer through the regulation of EZH2-associated ETFA.3
347044212021Screening of multiple acyl-CoA dehydrogenase deficiency in newborns and follow-up of patients.5
319962152020A case report of a mild form of multiple acyl-CoA dehydrogenase deficiency due to compound heterozygous mutations in the ETFA gene.1
319962152020A case report of a mild form of multiple acyl-CoA dehydrogenase deficiency due to compound heterozygous mutations in the ETFA gene.1
314183422019Molecular and Clinical Investigations on Portuguese Patients with Multiple acyl-CoA Dehydrogenase Deficiency.5
316656002019Molecular Oxygen Binding in the Mitochondrial Electron Transfer Flavoprotein.10
314183422019Molecular and Clinical Investigations on Portuguese Patients with Multiple acyl-CoA Dehydrogenase Deficiency.5
316656002019Molecular Oxygen Binding in the Mitochondrial Electron Transfer Flavoprotein.10
293019332018Oxidation of the FAD cofactor to the 8-formyl-derivative in human electron-transferring flavoprotein.9
293019332018Oxidation of the FAD cofactor to the 8-formyl-derivative in human electron-transferring flavoprotein.9
283201502017Additional evidence supports association of common genetic variants in VTI1A and ETFA with increased risk of glioma susceptibility.6

Citation

Dessen P

ETFA (electron transfer flavoprotein subunit alpha)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54291/etfa-(electron-transfer-flavoprotein-subunit-alpha)