Gene Gene information from NCBI Gene database.
Entrez ID 6391
Gene name Succinate dehydrogenase complex subunit C
Gene symbol SDHC
Synonyms (NCBI Gene)
CYB560CYBLPGL3PPGL3QPS1SDH3
Chromosome 1
Chromosome location 1q23.3
Summary This gene encodes one of four nuclear-encoded subunits that comprise succinate dehydrogenase, also known as mitochondrial complex II, a key enzyme complex of the tricarboxylic acid cycle and aerobic respiratory chains of mitochondria. The encoded protein
SNPs SNP information provided by dbSNP.
30
SNP ID Visualize variation Clinical significance Consequence
rs200375156 A>G,T Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign Missense variant, coding sequence variant, non coding transcript variant
rs201286421 C>T Pathogenic Intron variant, coding sequence variant, stop gained, non coding transcript variant
rs587776652 G>A Pathogenic Initiator codon variant, missense variant, non coding transcript variant
rs587776653 G>A,C,T Likely-pathogenic, pathogenic Splice donor variant, intron variant
rs587778661 C>T Uncertain-significance, likely-pathogenic, not-provided Coding sequence variant, non coding transcript variant, missense variant, intron variant
miRNA miRNA information provided by mirtarbase database.
317
miRTarBase ID miRNA Experiments Reference
MIRT025841 hsa-miR-7-5p Microarray 19073608
MIRT044536 hsa-miR-320a CLASH 23622248
MIRT040069 hsa-miR-615-3p CLASH 23622248
MIRT036997 hsa-miR-877-3p CLASH 23622248
MIRT498304 hsa-miR-8084 PAR-CLIP 22291592
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
24
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32814053
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IEA
GO:0005739 Component Mitochondrion TAS 2302193
GO:0005743 Component Mitochondrial inner membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602413 10682 ENSG00000143252
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q99643
Protein name Succinate dehydrogenase cytochrome b560 subunit, mitochondrial (Integral membrane protein CII-3) (Malate dehydrogenase [quinone] cytochrome b560 subunit) (QPs-1) (QPs1) (Succinate dehydrogenase complex subunit C) (Succinate-ubiquinone oxidoreductase cytoc
Protein function Membrane-anchoring subunit of succinate dehydrogenase (SDH) that is involved in complex II of the mitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone (coenzyme Q) (PubMed:9533030). SD
PDB 8GS8
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01127 Sdh_cyt 47 166 Succinate dehydrogenase/Fumarate reductase transmembrane subunit Family
Sequence
Sequence length 169
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Citrate cycle (TCA cycle)
Oxidative phosphorylation
Metabolic pathways
Carbon metabolism
Thermogenesis
Non-alcoholic fatty liver disease
Alzheimer disease
Parkinson disease
Amyotrophic lateral sclerosis
Huntington disease
Prion disease
Pathways of neurodegeneration - multiple diseases
Chemical carcinogenesis - reactive oxygen species
Diabetic cardiomyopathy
  Citric acid cycle (TCA cycle)
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
2047
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Carney triad Pathogenic; Likely pathogenic rs786205146, rs786205147, rs587776653 RCV000170331
RCV000170332
RCV000170333
Carney-Stratakis syndrome Pathogenic; Likely pathogenic rs764575966, rs587776653, rs898854295, rs201286421, rs756676111 RCV001329019
RCV000007666
RCV005398713
RCV004819210
RCV004796320
Gastrointestinal stromal tumor Likely pathogenic; Pathogenic rs1249046874, rs2102307803, rs2102370242, rs1483039185, rs1363265634, rs1057517818, rs587778661, rs2102336244, rs2102271857, rs2102307538, rs2526364684, rs786202200, rs786203457, rs764575966, rs786205147
View all (33 more)
RCV001378182
RCV001385231
RCV001380966
RCV001384853
RCV002028731
RCV001975845
RCV000641913
RCV001953500
RCV002044863
RCV003775007
RCV005227623
RCV005222790
RCV000641906
RCV000232178
RCV000688261
RCV002797062
RCV002881906
RCV002899357
RCV002933132
RCV000812224
RCV000641917
RCV000023194
RCV003777290
RCV003800158
RCV003801879
RCV003802140
RCV003813266
RCV003810540
RCV005220918
RCV001047084
RCV000791400
RCV000462244
RCV001240954
RCV000551177
RCV001380749
RCV000641918
RCV001386659
RCV000627763
RCV000641911
RCV000641907
RCV003767891
RCV000691372
RCV000809572
RCV000809817
RCV001382560
RCV001221046
RCV001064681
RCV001055954
RCV001058295
RCV001036663
RCV001217901
RCV001202377
RCV001233063
RCV001244070
RCV001232924
RCV001243668
RCV001879958
Hereditary cancer-predisposing syndrome Pathogenic; Likely pathogenic rs2102370242, rs1483039185, rs1363265634, rs587778661, rs2102271857, rs2526572703, rs2526364684, rs786202200, rs786203457, rs764575966, rs2526364101, rs748440817, rs2102370188, rs786205146, rs786205147
View all (18 more)
RCV003375274
RCV005271228
RCV002407277
RCV000492504
RCV004656677
RCV002339996
RCV002342914
RCV000164903
RCV000166772
RCV000162467
RCV002376670
RCV002450329
RCV002459803
RCV000492519
RCV000564191
RCV000574152
RCV005480316
RCV000215996
RCV004246162
RCV004508382
RCV000492312
RCV000492170
RCV002429493
RCV000492770
RCV000492617
RCV000492239
RCV000492714
RCV000574696
RCV000565535
RCV000569757
RCV000128874
RCV003380656
RCV004669129
RCV002424897
RCV001015229
RCV001015731
RCV001026732
RCV001015445
RCV002354978
RCV004671305
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cowden syndrome Benign; Likely benign; Conflicting classifications of pathogenicity rs61733156, rs1277488324 RCV005359321
RCV005357589
Lung cancer Uncertain significance rs760572684 RCV005900646
Malignant tumor of breast Conflicting classifications of pathogenicity rs200375156 RCV001269363
Malignant tumor of urinary bladder Uncertain significance rs2102336404 RCV005924034
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abdominal Injuries Associate 17557926, 29878124
Breast Neoplasms Associate 33560870
Carcinogenesis Associate 24859990
Carcinoma Ductal Breast Associate 32156290
Carcinoma Hepatocellular Associate 25894340, 36308411
Carcinoma Intraductal Noninfiltrating Associate 32156290
Carcinoma Renal Cell Associate 23083876, 24625421, 34014604, 34558728, 36455002
Carney Complex Associate 19522821
Carney Stratakis Syndrome Associate 19522821, 23282968
Carney Triad Associate 24859990, 25540324