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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 Show/Hide all (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 Show/Hide all (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 Show/Hide all (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 Pathway Reactome Pathway
Citrate cycle (TCA cycle) Citric acid 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  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
28
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Show/Hide Causal Diseases (9)
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Carney triad Pathogenic; Likely pathogenic rs786205146, rs786205147, rs587776653 RCV000170331
RCV000170332
RCV000170333
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Carney-Stratakis syndrome Pathogenic; Likely pathogenic rs764575966, rs587776653, rs898854295, rs201286421, rs756676111 RCV001329019
RCV000007666
RCV005398713
RCV004819210
RCV004796320
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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
View all (52 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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
View all (35 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary pheochromocytoma and paraganglioma Likely pathogenic; Pathogenic rs1249046874, rs587778661, rs786203457, rs764575966, rs587776653, rs2102370242, rs1057517818, rs778582853, rs898854295, rs981049067, rs1553266474, rs1553261757, rs201286421, rs786202200 RCV004803676
RCV000826184
RCV003995530
RCV000505285
RCV003996080
View all (10 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Show/Hide Unknown Diseases (19)
Phenotype Name Clinical Significance Source Reference Evidence Score
CHARCOT-MARIE-TOOTH DISEASE — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, TYPE 2I — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COWDEN DISEASE — GWAS catalog 21979946
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cowden syndrome Benign; Likely benign; Conflicting classifications of pathogenicity ClinVar
Orphanet
21979946
★★★★★
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (181)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenoma Adenoma BEFREE 26652933
★★★★★
★☆☆☆☆
Found in Text Mining only
Adrenal Cortical Adenoma Adrenocortical adenoma BEFREE 19522821
★★★★★
★☆☆☆☆
Found in Text Mining only
Adrenal Gland Pheochromocytoma Adrenal Gland Pheochromocytoma BEFREE 14674304, 14974914, 15883704, 15883706, 16249420, 16405730, 17102086, 17557926, 19233206, 19368708, 19522821, 19546167, 20236688, 20484225, 20980436
View all (10 more)
★★★★★
★☆☆☆☆
Found in Text Mining only
Adrenal Gland Pheochromocytoma Adrenal Gland Pheochromocytoma HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia Anemia HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Aniridia Aniridia HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Bipolar Disorder Bipolar Disorder BEFREE 15365216
★★★★★
★☆☆☆☆
Found in Text Mining only
Brachydactyly Brachydactyly HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only