ETFDH (electron transfer flavoprotein dehydrogenase)

2014-11-01 Affiliation

Identity

HGNC

ETFDH

LOCATION

4q32.1

LOCUSID

2110

ALIAS

ETFQO,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: 2110
MIM: 231675
HGNC: 3483
Ensembl: ENSG00000171503

Variants:

dbSNP: 2110
ClinVar: 2110
TCGA: ENSG00000171503
COSMIC: ETFDH

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000171503	ENST00000307738	Q16134
ENSG00000171503	ENST00000507475	D6RAD5
ENSG00000171503	ENST00000511912	Q16134
ENSG00000171503	ENST00000512251	D6RJF8

Expression (GTEx)

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

PharmGKB

Entity ID	Name	Type	Evidence	Association	PK	PD	PMIDs
PA447197	Attention Deficit Disorder with Hyperactivity	Disease	ClinicalAnnotation	associated		PD	29382897
PA450464	methylphenidate	Chemical	ClinicalAnnotation	associated		PD	29382897

References

Pubmed ID	Year	Title	Citations
20037589	2010	A genome-wide perspective of genetic variation in human metabolism.	252
17412732	2007	The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene.	64
17584774	2007	ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.	62
19249206	2009	ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.	30
12359134	2002	Glutaric acidemia type II: gene structure and mutations of the electron transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO) gene.	24
19758981	2010	Riboflavin-responsive lipid-storage myopathy caused by ETFDH gene mutations.	24
21347544	2011	Molecular analysis of 51 unrelated pedigrees with late-onset multiple acyl-CoA dehydrogenation deficiency (MADD) in southern China confirmed the most common ETFDH mutation and high carrier frequency of c.250G>A.	20
20370797	2010	High frequency of ETFDH c.250G>A mutation in Taiwanese patients with late-onset lipid storage myopathy.	18
20370797	2010	High frequency of ETFDH c.250G>A mutation in Taiwanese patients with late-onset lipid storage myopathy.	18
22611163	2012	Molecular mechanisms of riboflavin responsiveness in patients with ETF-QO variations and multiple acyl-CoA dehydrogenation deficiency.	18

Citation

Dessen P

ETFDH (electron transfer flavoprotein dehydrogenase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62928/etfdh