• Gene id: 6392

Gene Summary

• Gene Symbol: SDHD   Gene   UCSC   Ensembl
• Aliases: CBT1, CII-4, CWS3, PGL, PGL1, QPs3, SDH4, cybS
• Gene name: succinate dehydrogenase complex subunit D
• Alternate names: succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial, succinate dehydrogenase complex subunit D integral membrane protein, succinate-ubiquinone oxidoreductase cytochrome b small subunit, succinate-ubiquinone reductase membrane ancho,
• Gene location: 11q23.1 (112086872: 112095793)     Exons: 6     NC_000011.10
• Gene summary(Entrez): This gene encodes a member of complex II of the respiratory chain, which is responsible for the oxidation of succinate. The encoded protein is one of two integral membrane proteins anchoring the complex to the matrix side of the mitochondrial inner membra
• OMIM: 602690

Protein Summary

• Protein general information: O14521  
  • Name: Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial (CybS) (CII 4) (QPs3) (Succinate dehydrogenase complex subunit D) (Succinate ubiquinone oxidoreductase cytochrome b small subunit) (Succinate ubiquinone reductase membrane anch
  • Length: 159  
  • Mass: 17043
• Sequence:

  MAVLWRLSAVCGALGGRALLLRTPVVRPAHISAFLQDRPIPEWCGVQHIHLSPSHHSGSKAASLHWTSERVVSVL
  LLGLLPAAYLNPCSAMDYSLAAALTLHGHWGLGQVVTDYVHGDALQKAAKAGLLALSALTFAGLCYFNYHDVGIC
  KAVAMLWKL

• Structural information:
  • Interpro: IPR007992  IPR034804  
  • CDD: cd03496
  • STRING: ENSP00000364699
• Other Databases: GeneCards:  SDHD  Malacards:  SDHD

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005749	mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone)	IBA	cellular component
GO:0006099	tricarboxylic acid cycle	IBA	biological process
GO:0006121	mitochondrial electron transport, succinate to ubiquinone	IBA	biological process
GO:0020037	heme binding	IBA	molecular function
GO:0048039	ubiquinone binding	IBA	molecular function
GO:0020037	heme binding	ISS	molecular function
GO:0005749	mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone)	ISS	cellular component
GO:0048039	ubiquinone binding	ISS	molecular function
GO:0005743	mitochondrial inner membrane	ISS	cellular component
GO:0005740	mitochondrial envelope	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0006099	tricarboxylic acid cycle	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005739	mitochondrion	TAS	cellular component
GO:0005740	mitochondrial envelope	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0006099	tricarboxylic acid cycle	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0006099	tricarboxylic acid cycle	IEA	biological process
GO:0006099	tricarboxylic acid cycle	IDA	biological process
GO:0000104	succinate dehydrogenase activity	IDA	molecular function
GO:0005743	mitochondrial inner membrane	IDA	cellular component
GO:0009055	electron transfer activity	TAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa05010	Alzheimer disease
hsa05016	Huntington disease
hsa05012	Parkinson disease
hsa04714	Thermogenesis
hsa00190	Oxidative phosphorylation
hsa04932	Non-alcoholic fatty liver disease
hsa01200	Carbon metabolism
hsa00020	Citrate cycle

Diseases

Associated diseases	References
Malignant paraganglioma	KEGG:H01510
Cowden syndrome	KEGG:H01222
Carcinoid	KEGG:H00034
Mitochondrial complex II deficiency	KEGG:H02005
Malignant paraganglioma	KEGG:H01510
Cowden syndrome	KEGG:H01222
Carcinoid	KEGG:H00034
Mitochondrial complex II deficiency	KEGG:H02005
Paraganglioma	PMID:10657297
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray