SDHAF2 (succinate dehydrogenase complex assembly factor 2)

2011-03-01 Affiliation

Identity

HGNC

SDHAF2

LOCATION

11q12.2

LOCUSID

54949

ALIAS

C11orf79,PGL2,SDH5

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: 54949
MIM: 613019
HGNC: 26034
Ensembl: ENSG00000167985

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000167985	ENST00000301761	Q9NX18
ENSG00000167985	ENST00000359614	F8W679
ENSG00000167985	ENST00000534878	M0R060
ENSG00000167985	ENST00000536250	F5H4T4
ENSG00000167985	ENST00000537782	M0QYN2
ENSG00000167985	ENST00000542074	M0QY91
ENSG00000167985	ENST00000542794	F5H4T4
ENSG00000167985	ENST00000543265	F5H8E2

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

PharmGKB

Entity ID	Name	Type	Evidence	Association
PA35606	SDHB	Gene	DataAnnotation	associated
PA35607	SDHC	Gene	DataAnnotation	associated
PA35608	SDHD	Gene	DataAnnotation	associated
PA445229	Paraganglioma	Disease	DataAnnotation	associated
PA445315	Pheochromocytoma	Disease	DataAnnotation	associated

References

Pubmed ID	Year	Title	Citations
32887801	2020	The roles of SDHAF2 and dicarboxylate in covalent flavinylation of SDHA, the human complex II flavoprotein.	16
32887801	2020	The roles of SDHAF2 and dicarboxylate in covalent flavinylation of SDHA, the human complex II flavoprotein.	16
31588224	2019	SDH5 Depletion Enhances Radiosensitivity by Regulating p53: A New Method for Noninvasive Prediction of Radiotherapy Response.	9
31588224	2019	SDH5 Depletion Enhances Radiosensitivity by Regulating p53: A New Method for Noninvasive Prediction of Radiotherapy Response.	9
28099933	2017	Loss of maternal chromosome 11 is a signature event in SDHAF2, SDHD, and VHL-related paragangliomas, but less significant in SDHB-related paragangliomas.	9
28384794	2017	Clinical Characterization of the Pheochromocytoma and Paraganglioma Susceptibility Genes SDHA, TMEM127, MAX, and SDHAF2 for Gene-Informed Prevention.	79
28099933	2017	Loss of maternal chromosome 11 is a signature event in SDHAF2, SDHD, and VHL-related paragangliomas, but less significant in SDHB-related paragangliomas.	9
28384794	2017	Clinical Characterization of the Pheochromocytoma and Paraganglioma Susceptibility Genes SDHA, TMEM127, MAX, and SDHAF2 for Gene-Informed Prevention.	79
27296776	2016	In-vitro, SDH5-dependent flavinylation of immobilized human respiratory complex II flavoprotein.	7
27587393	2016	The Assembly Factor SDHAF2 Is Dispensable for Flavination of the Catalytic Subunit of Mitochondrial Complex II in Breast Cancer Cells.	12
27296776	2016	In-vitro, SDH5-dependent flavinylation of immobilized human respiratory complex II flavoprotein.	7
27587393	2016	The Assembly Factor SDHAF2 Is Dispensable for Flavination of the Catalytic Subunit of Mitochondrial Complex II in Breast Cancer Cells.	12
24973967	2015	A two-decade experience of head and neck paragangliomas in a whole population-based single centre cohort.	3
24973967	2015	A two-decade experience of head and neck paragangliomas in a whole population-based single centre cohort.	3
24322175	2014	Role of SDHAF2 and SDHD in von Hippel-Lindau associated pheochromocytomas.	4

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/haematological-explorer/gene-fusions-explorer/