ETFA (electron transfer flavoprotein subunit alpha)

2014-08-01 Affiliation

Identity

HGNC

ETFA

LOCATION

15q24.2

LOCUSID

2108

ALIAS

EMA,GA2,MADD

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000140374	ENST00000267950	J3KN60
ENSG00000140374	ENST00000433983	P13804
ENSG00000140374	ENST00000557943	P13804
ENSG00000140374	ENST00000557943	A0A0S2Z3L0
ENSG00000140374	ENST00000559386	H0YKF0
ENSG00000140374	ENST00000559602	H0YK49
ENSG00000140374	ENST00000559973	H0YNX6
ENSG00000140374	ENST00000560044	H0YMU8
ENSG00000140374	ENST00000560309	H0YMU8
ENSG00000140374	ENST00000560345	H0YL12
ENSG00000140374	ENST00000560595	H0YLU7
ENSG00000140374	ENST00000560726	H0YL83
ENSG00000140374	ENST00000560899	H0YM12
ENSG00000140374	ENST00000565910	H3BV91

Expression (GTEx)

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

Pathway	Source	External ID
Metabolism	REACTOME	R-HSA-1430728
The citric acid (TCA) cycle and respiratory electron transport	REACTOME	R-HSA-1428517
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.	REACTOME	R-HSA-163200
Respiratory electron transport	REACTOME	R-HSA-611105

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
16510302	2006	Electron transfer flavoprotein deficiency: functional and molecular aspects.	24
20877624	2010	Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.	17
19208393	2009	Clinical and genetic analysis of lipid storage myopathies.	14
17689999	2007	Transient multiple acyl-CoA dehydrogenation deficiency in a newborn female caused by maternal riboflavin deficiency.	12
20674745	2010	Mutational hotspots in electron transfer flavoprotein underlie defective folding and function in multiple acyl-CoA dehydrogenase deficiency.	8
21308847	2011	Electron transfer flavoprotein domain II orientation monitored using double electron-electron resonance between an enzymatically reduced, native FAD cofactor, and spin labels.	8
24394546	2014	Exploring the effects of tert-butylhydroperoxide induced liver injury using proteomic approach.	7
28320150	2017	Additional evidence supports association of common genetic variants in VTI1A and ETFA with increased risk of glioma susceptibility.	3
11756429	2002	Electron transfer and conformational change in complexes of trimethylamine dehydrogenase and electron transferring flavoprotein.	2
21219902	2011	A polymorphic position in electron transfer flavoprotein modulates kinetic stability as evidenced by thermal stress.	2

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