• Gene id: 54949

Gene Summary

• Gene Symbol: SDHAF2   Gene   UCSC   Ensembl
• Aliases: C11orf79, PGL2, SDH5
• Gene name: succinate dehydrogenase complex assembly factor 2
• Alternate names: succinate dehydrogenase assembly factor 2, mitochondrial, SDH assembly factor 2, hSDH5, succinate dehydrogenase subunit 5, mitochondrial,
• Gene location: 11q12.2 (61430123: 61446732)     Exons: 4     NC_000011.10
• Gene summary(Entrez): This gene encodes a mitochondrial protein needed for the flavination of a succinate dehydrogenase complex subunit required for activity of the complex. Mutations in this gene are associated with paraganglioma.[provided by RefSeq, Jul 2010]
• OMIM: 613019

Protein Summary

• Protein general information: Q9NX18  
  • Name: Succinate dehydrogenase assembly factor 2, mitochondrial (SDH assembly factor 2) (SDHAF2)
  • Length: 166  
  • Mass: 19599
• Sequence:

  MAVSTVFSTSSLMLALSRHSLLSPLLSVTSFRRFYRGDSPTDSQKDMIEIPLPPWQERTDESIETKRARLLYESR
  KRGMLENCILLSLFAKEHLQHMTEKQLNLYDRLINEPSNDWDIYYWATEAKPAPEIFENEVMALLRDFAKNKNKE
  QRLRAPDLEYLFEKPR

• Structural information:
  • Interpro: IPR005631  IPR036714  IPR028882  
  • DIP: 61728
  • STRING: ENSP00000301761
• Other Databases: GeneCards:  SDHAF2  Malacards:  SDHAF2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006099	tricarboxylic acid cycle	IBA	biological process
GO:0006121	mitochondrial electron transport, succinate to ubiquinone	IBA	biological process
GO:0018293	protein-FAD linkage	IBA	biological process
GO:0034553	mitochondrial respiratory chain complex II assembly	IBA	biological process
GO:0005739	mitochondrion	IBA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0018293	protein-FAD linkage	IMP	biological process
GO:0006121	mitochondrial electron transport, succinate to ubiquinone	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0018293	protein-FAD linkage	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0010719	negative regulation of epithelial to mesenchymal transition	IMP	biological process
GO:0006470	protein dephosphorylation	IGI	biological process
GO:0090090	negative regulation of canonical Wnt signaling pathway	IGI	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0010719	negative regulation of epithelial to mesenchymal transition	IEA	biological process
GO:0006470	protein dephosphorylation	IEA	biological process
GO:0090090	negative regulation of canonical Wnt signaling pathway	IEA	biological process
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0018293	protein-FAD linkage	IEA	biological process
GO:0006121	mitochondrial electron transport, succinate to ubiquinone	IEA	biological process
GO:0005759	mitochondrial matrix	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881