SDHAF2 (succinate dehydrogenase complex assembly factor 2)

2011-03-01  

Identity

HGNC
LOCATION
11q12.2
LOCUSID
ALIAS
C11orf79,PGL2,SDH5
FUSION GENES

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

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA35606SDHBGeneDataAnnotationassociated
PA35607SDHCGeneDataAnnotationassociated
PA35608SDHDGeneDataAnnotationassociated
PA445229ParagangliomaDiseaseDataAnnotationassociated
PA445315PheochromocytomaDiseaseDataAnnotationassociated

References

Pubmed IDYearTitleCitations
328878012020The roles of SDHAF2 and dicarboxylate in covalent flavinylation of SDHA, the human complex II flavoprotein.16
328878012020The roles of SDHAF2 and dicarboxylate in covalent flavinylation of SDHA, the human complex II flavoprotein.16
315882242019SDH5 Depletion Enhances Radiosensitivity by Regulating p53: A New Method for Noninvasive Prediction of Radiotherapy Response.9
315882242019SDH5 Depletion Enhances Radiosensitivity by Regulating p53: A New Method for Noninvasive Prediction of Radiotherapy Response.9
280999332017Loss of maternal chromosome 11 is a signature event in SDHAF2, SDHD, and VHL-related paragangliomas, but less significant in SDHB-related paragangliomas.9
283847942017Clinical Characterization of the Pheochromocytoma and Paraganglioma Susceptibility Genes SDHA, TMEM127, MAX, and SDHAF2 for Gene-Informed Prevention.79
280999332017Loss of maternal chromosome 11 is a signature event in SDHAF2, SDHD, and VHL-related paragangliomas, but less significant in SDHB-related paragangliomas.9
283847942017Clinical Characterization of the Pheochromocytoma and Paraganglioma Susceptibility Genes SDHA, TMEM127, MAX, and SDHAF2 for Gene-Informed Prevention.79
272967762016In-vitro, SDH5-dependent flavinylation of immobilized human respiratory complex II flavoprotein.7
275873932016The Assembly Factor SDHAF2 Is Dispensable for Flavination of the Catalytic Subunit of Mitochondrial Complex II in Breast Cancer Cells.12
272967762016In-vitro, SDH5-dependent flavinylation of immobilized human respiratory complex II flavoprotein.7
275873932016The Assembly Factor SDHAF2 Is Dispensable for Flavination of the Catalytic Subunit of Mitochondrial Complex II in Breast Cancer Cells.12
249739672015A two-decade experience of head and neck paragangliomas in a whole population-based single centre cohort.3
249739672015A two-decade experience of head and neck paragangliomas in a whole population-based single centre cohort.3
243221752014Role 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/tumors-explorer/