SDHAF3 (succinate dehydrogenase complex assembly factor 3)

2018-07-01 Affiliation

Identity

HGNC

SDHAF3

LOCATION

7q21.3

LOCUSID

57001

ALIAS

ACN9,DC11,LYRM10,Sdh7

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: 57001
MIM: 615773
HGNC: 21752
Ensembl: ENSG00000196636

Variants:

dbSNP: 57001
ClinVar: 57001
TCGA: ENSG00000196636
COSMIC: SDHAF3

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000196636	ENST00000360382	F8W9V1
ENSG00000196636	ENST00000432641	Q9NRP4

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

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
28738844	2017	Analysis of SDHAF3 in familial and sporadic pheochromocytoma and paraganglioma.	14
28738844	2017	Analysis of SDHAF3 in familial and sporadic pheochromocytoma and paraganglioma.	14
25821040	2015	ACN9 and alcohol dependence: family-based association analysis in multiplex alcohol dependence families.	3
25821040	2015	ACN9 and alcohol dependence: family-based association analysis in multiplex alcohol dependence families.	3
20628086	2010	Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.	15
20877624	2010	Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.	20
20628086	2010	Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.	15
20877624	2010	Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.	20
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	105
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	105
18163977	2008	A Systematic single nucleotide polymorphism screen to fine-map alcohol dependence genes on chromosome 7 identifies association with a novel susceptibility gene ACN9.	27
18163977	2008	A Systematic single nucleotide polymorphism screen to fine-map alcohol dependence genes on chromosome 7 identifies association with a novel susceptibility gene ACN9.	27
18163977	2008	A Systematic single nucleotide polymorphism screen to fine-map alcohol dependence genes on chromosome 7 identifies association with a novel susceptibility gene ACN9.	27
18163977	2008	A Systematic single nucleotide polymorphism screen to fine-map alcohol dependence genes on chromosome 7 identifies association with a novel susceptibility gene ACN9.	27

Citation

Dessen P

SDHAF3 (succinate dehydrogenase complex assembly factor 3)

Atlas Genet Cytogenet Oncol Haematol. 2018-07-01

Online version: http://atlasgeneticsoncology.org/gene/57573/sdhaf3-(succinate-dehydrogenase-complex-assembly-factor-3)