SDHAF2 (succinate dehydrogenase complex assembly factor 2)

2011-03-01  

Identity

HGNC
SDHAF2
LOCATION
11q12.2
LOCUSID
54949
ALIAS
C11orf79,PGL2,SDH5
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 54949
MIM: 613019
HGNC: 26034
Ensembl: ENSG00000167985

Variants:

dbSNP: 54949
ClinVar: 54949
TCGA: ENSG00000167985
COSMIC: SDHAF2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000167985ENST00000301761Q9NX18
ENSG00000167985ENST00000359614F8W679
ENSG00000167985ENST00000534878M0R060
ENSG00000167985ENST00000536250F5H4T4
ENSG00000167985ENST00000537782M0QYN2
ENSG00000167985ENST00000542074M0QY91
ENSG00000167985ENST00000542794F5H4T4
ENSG00000167985ENST00000543265F5H8E2

Expression (GTEx)

0
5
10
15
20
25
30
35
40
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
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

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA35606SDHBGeneDataAnnotationassociated
PA35607SDHCGeneDataAnnotationassociated
PA35608SDHDGeneDataAnnotationassociated
PA445229ParagangliomaDiseaseDataAnnotationassociated
PA445315PheochromocytomaDiseaseDataAnnotationassociated

References

Pubmed IDYearTitleCitations
196288172009SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma.217
200712352010SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma.63
199150152010Isocitrate dehydrogenase mutations are rare in pheochromocytomas and paragangliomas.40
212243662011SDHAF2 (PGL2-SDH5) and hereditary head and neck paraganglioma.40
231743332013The role of complex II in disease.40
283847942017Clinical Characterization of the Pheochromocytoma and Paraganglioma Susceptibility Genes SDHA, TMEM127, MAX, and SDHAF2 for Gene-Informed Prevention.31
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
233803932013Emerging concepts in the flavinylation of succinate dehydrogenase.16
239831272013Succinate dehydrogenase 5 (SDH5) regulates glycogen synthase kinase 3β-β-catenin-mediated lung cancer metastasis.15
244144182014Mitochondrial matrix proteostasis is linked to hereditary paraganglioma: LON-mediated turnover of the human flavinylation factor SDH5 is regulated by its interaction with SDHA.11

Citation

Dessen P

SDHAF2 (succinate dehydrogenase complex assembly factor 2)

Atlas Genet Cytogenet Oncol Haematol. 2011-03-01

Online version: http://atlasgeneticsoncology.org/gene/52113/sdhaf2