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Aliases for SDHC Gene

Aliases for SDHC Gene

  • Succinate Dehydrogenase Complex Subunit C 2 3 4 5
  • Succinate Dehydrogenase Complex, Subunit C, Integral Membrane Protein, 15kD 2 3
  • Succinate-Ubiquinone Oxidoreductase Cytochrome B Large Subunit 3 4
  • Succinate Dehydrgenase Cytochrome B 2 3
  • Large Subunit Of Cytochrome B 2 3
  • CYB560 3 4
  • QPS1 3 4
  • CYBL 3 4
  • SDH3 3 4
  • Succinate Dehydrogenase Complex, Subunit C, Integral Membrane Protein, 15kDa 2
  • Succinate Dehydrogenase Complex Subunit C Integral Membrane Protein 15kDa 3
  • Succinate Dehydrogenase Cytochrome B560 Subunit, Mitochondrial 3
  • Succinate Dehydrogenase 3, Integral Membrane Subunit 3
  • Succinate Dehydrogenase Cytochrome B560 Subunit 2
  • Cytochrome B Large Subunit Of Complex II 3
  • Integral Membrane Protein CII-3b 3
  • Integral Membrane Protein CII-3 4
  • QPs-1 4
  • PGL3 3

External Ids for SDHC Gene

Previous HGNC Symbols for SDHC Gene

  • PGL3

Previous GeneCards Identifiers for SDHC Gene

  • GC01P158995
  • GC01P157016
  • GC01P158061
  • GC01P158500
  • GC01P158097
  • GC01P159550
  • GC01P132641

Summaries for SDHC Gene

Entrez Gene Summary for SDHC Gene

  • 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 is one of two integral membrane proteins that anchor other subunits of the complex, which form the catalytic core, to the inner mitochondrial membrane. There are several related pseudogenes for this gene on different chromosomes. Mutations in this gene have been associated with paragangliomas. Alternatively spliced transcript variants have been described. [provided by RefSeq, May 2013]

GeneCards Summary for SDHC Gene

SDHC (Succinate Dehydrogenase Complex Subunit C) is a Protein Coding gene. Diseases associated with SDHC include Paragangliomas 3 and Gastrointestinal Stromal Tumor. Among its related pathways are Metabolism and Citrate cycle (TCA cycle). GO annotations related to this gene include heme binding and oxidoreductase activity, acting on the CH-CH group of donors.

UniProtKB/Swiss-Prot for SDHC Gene

  • 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).

Gene Wiki entry for SDHC Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SDHC Gene

Genomics for SDHC Gene

Regulatory Elements for SDHC Gene

Enhancers for SDHC Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F161388 1.8 FANTOM5 Ensembl ENCODE 39.2 +75.8 75778 2.7 HDGF PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 FOS SDHC DUSP12 ATF6 CFAP126 NR1I3 APOA2 MIR5187 TOMM40L MPZ FCRLA
GH01F161399 1.4 Ensembl ENCODE 37.9 +85.3 85271 3.3 CREB3L1 MLX DMAP1 YY1 ZNF143 ZNF263 SP3 NFYC TBX21 SSRP1 SDHC ATF6 ENSG00000238934 ENSG00000224985 ENSG00000227818 MPZ FCRLA ENSG00000283696 PIR55576
GH01F161381 1.3 FANTOM5 Ensembl ENCODE 35.1 +68.5 68493 2.3 CTCF ZNF654 CEBPB MAFG REST RAD21 RFX5 ZNF316 ZBTB48 SMC3 SDHC NR1I3 MIR5187 TOMM40L APOA2 ADAMTS4 NDUFS2 MPZ RRM2P2 ENSG00000283696
GH01F161313 1.1 ENCODE 29.3 +0.3 302 2.1 PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF143 SP3 SDHC ATF6 PIR38557
GH01F161367 1.1 Ensembl ENCODE 24.2 +53.7 53729 1.5 ELF3 CTCF MXI1 SAP130 MAX ARID4B BMI1 EBF1 RAD21 YY1 SDHC CFAP126 RRM2P2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SDHC on UCSC Golden Path with GeneCards custom track

Promoters for SDHC Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000080587 243 1801 PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 SP3 SP5

Genomic Location for SDHC Gene

Chromosome:
1
Start:
161,314,257 bp from pter
End:
161,375,340 bp from pter
Size:
61,084 bases
Orientation:
Plus strand

Genomic View for SDHC Gene

Genes around SDHC on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SDHC Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SDHC Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SDHC Gene

Proteins for SDHC Gene

  • Protein details for SDHC Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99643-C560_HUMAN
    Recommended name:
    Succinate dehydrogenase cytochrome b560 subunit, mitochondrial
    Protein Accession:
    Q99643
    Secondary Accessions:
    • O75609
    • Q3C259
    • Q3C2D8
    • Q3C2H4
    • Q5VTH3

    Protein attributes for SDHC Gene

    Size:
    169 amino acids
    Molecular mass:
    18610 Da
    Cofactor:
    Name=heme; Xref=ChEBI:CHEBI:30413;
    Quaternary structure:
    • Component of complex II composed of four subunits: the flavoprotein (FP) SDHA, iron-sulfur protein (IP) SDHB, and a cytochrome b560 composed of SDHC and SDHD.

    Alternative splice isoforms for SDHC Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SDHC Gene

Post-translational modifications for SDHC Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SDHC Gene

Domains & Families for SDHC Gene

Graphical View of Domain Structure for InterPro Entry

Q99643

UniProtKB/Swiss-Prot:

C560_HUMAN :
  • Belongs to the cytochrome b560 family.
Family:
  • Belongs to the cytochrome b560 family.
genes like me logo Genes that share domains with SDHC: view

Function for SDHC Gene

Molecular function for SDHC Gene

GENATLAS Biochemistry:
succinate dehydrogenase,cyb L subunit,liver,inner mitochondrial membrane,component 3 of complex II of mitochondrial respiratory chain (CII-3),oxidative phosphorylation,(OXPHOS),also catalyzing the seventh step of the citric acid cycle
UniProtKB/Swiss-Prot 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).

Gene Ontology (GO) - Molecular Function for SDHC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000104 succinate dehydrogenase activity IEA --
GO:0009055 electron carrier activity IEA --
GO:0016627 oxidoreductase activity, acting on the CH-CH group of donors IEA --
GO:0020037 heme binding ISS --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with SDHC: view
genes like me logo Genes that share phenotypes with SDHC: view

Human Phenotype Ontology for SDHC Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SDHC Gene

MGI Knock Outs for SDHC:
  • Sdhc tm1b(EUCOMM)Wtsi
  • Sdhc tm1a(EUCOMM)Wtsi

Animal Model Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SDHC Gene

Localization for SDHC Gene

Subcellular locations from UniProtKB/Swiss-Prot for SDHC Gene

Mitochondrion inner membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SDHC gene
Compartment Confidence
mitochondrion 5
plasma membrane 3
nucleus 2

Gene Ontology (GO) - Cellular Components for SDHC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion TAS 2302193
GO:0005743 mitochondrial inner membrane TAS --
GO:0005749 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) ISS,IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane TAS 9533030
genes like me logo Genes that share ontologies with SDHC: view

Pathways & Interactions for SDHC Gene

genes like me logo Genes that share pathways with SDHC: view

UniProtKB/Swiss-Prot Q99643-C560_HUMAN

  • Pathway: Carbohydrate metabolism; tricarboxylic acid cycle.

Gene Ontology (GO) - Biological Process for SDHC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006099 tricarboxylic acid cycle TAS 9533030
GO:0006121 mitochondrial electron transport, succinate to ubiquinone IBA --
GO:0009060 aerobic respiration TAS 9533030
GO:0055114 oxidation-reduction process TAS 9533030
genes like me logo Genes that share ontologies with SDHC: view

No data available for SIGNOR curated interactions for SDHC Gene

Drugs & Compounds for SDHC Gene

(12) Drugs for SDHC Gene - From: DrugBank, ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Succinic acid Approved Nutra Full agonist, Agonist, Target 0
FAD Approved Pharma 0
Ubiquinone-1 Experimental Pharma Target 0
SB-649868 Experimental Pharma Antagonist 0
2-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,4,5-Triol Experimental Pharma Target 0

(10) Additional Compounds for SDHC Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
QH2
  • Coenzymes QH2
  • CoQH2
  • Reduced ubiquinone
  • Ubiquinol
  • Ubiquinone-1
56275-39-9
Sulfide
  • Sulfanediide
  • Sulfide
  • Sulfur
  • Sulphide
18496-25-8

(1) ApexBio Compounds for SDHC Gene

Compound Action Cas Number
Methylmalonate 516-05-2
genes like me logo Genes that share compounds with SDHC: view

Transcripts for SDHC Gene

Unigene Clusters for SDHC Gene

Succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa:
Representative Sequences:

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SDHC Gene

No ASD Table

Relevant External Links for SDHC Gene

GeneLoc Exon Structure for
SDHC
ECgene alternative splicing isoforms for
SDHC

Expression for SDHC Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SDHC Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SDHC Gene

This gene is overexpressed in Heart (13.3), Bone (9.4), Kidney (7.1), and Platelet (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SDHC Gene



Protein tissue co-expression partners for SDHC Gene

NURSA nuclear receptor signaling pathways regulating expression of SDHC Gene:

SDHC

SOURCE GeneReport for Unigene cluster for SDHC Gene:

Hs.444472
genes like me logo Genes that share expression patterns with SDHC: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for SDHC Gene

Orthologs for SDHC Gene

This gene was present in the common ancestor of animals.

Orthologs for SDHC Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia SDHC 34 35
  • 91.32 (n)
cow
(Bos Taurus)
Mammalia SDHC 34 35
  • 90.93 (n)
oppossum
(Monodelphis domestica)
Mammalia SDHC 35
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sdhc 34 16 35
  • 83.63 (n)
rat
(Rattus norvegicus)
Mammalia Sdhc 34
  • 83.43 (n)
chimpanzee
(Pan troglodytes)
Mammalia SDHC 35
  • 59 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SDHC 35
  • 46 (a)
OneToOne
chicken
(Gallus gallus)
Aves SDHC 35
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SDHC 35
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sdhc 34
  • 69.63 (n)
zebrafish
(Danio rerio)
Actinopterygii sdhc 34 35
  • 60.72 (n)
wufa91d04 34
fruit fly
(Drosophila melanogaster)
Insecta SdhC 34 35
  • 50.93 (n)
CG6629 35
  • 18 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010672 34
  • 48.65 (n)
Species where no ortholog for SDHC was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SDHC Gene

ENSEMBL:
Gene Tree for SDHC (if available)
TreeFam:
Gene Tree for SDHC (if available)

Paralogs for SDHC Gene

genes like me logo Genes that share paralogs with SDHC: view

No data available for Paralogs for SDHC Gene

Variants for SDHC Gene

Sequence variations from dbSNP and Humsavar for SDHC Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs201286421 Pathogenic 161,323,636(+) GCCTC(C/T)GAGCC intron-variant, nc-transcript-variant, reference, stop-gained
rs587776652 Pathogenic 161,314,408(+) AAGAT(A/G)GCTGC nc-transcript-variant, reference, missense
rs587776653 Pathogenic 161,356,841(+) ACTTG(A/G/T)TAAGT intron-variant, splice-donor-variant
rs764575966 Pathogenic 161,356,832(+) GGATC(C/T)GACAC intron-variant, nc-transcript-variant, reference, stop-gained
rs876658301 Pathogenic 161,356,811(+) CATGT(-/T)ATCAT intron-variant, nc-transcript-variant, reference, frameshift-variant

Structural Variations from Database of Genomic Variants (DGV) for SDHC Gene

Variant ID Type Subtype PubMed ID
nsv946460 CNV duplication 23825009
nsv1144410 CNV deletion 24896259
nsv1010776 CNV gain 25217958

Variation tolerance for SDHC Gene

Residual Variation Intolerance Score: 33% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.20; 4.42% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SDHC Gene

Human Gene Mutation Database (HGMD)
SDHC
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SDHC

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SDHC Gene

Disorders for SDHC Gene

MalaCards: The human disease database

(24) MalaCards diseases for SDHC Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
paragangliomas 3
  • glomus tumors, familial, 3
gastrointestinal stromal tumor
  • paraganglioma and gastric stromal sarcoma
paraganglioma and gastric stromal sarcoma
  • carney dyad
hereditary paraganglioma-pheochromocytoma syndromes
  • paragangliomas 4
cowden syndrome 1
  • lhermitte-duclos syndrome
- elite association - COSMIC cancer census association via MalaCards
Search SDHC in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

C560_HUMAN
  • Paraganglioma and gastric stromal sarcoma (PGGSS) [MIM:606864]: Gastrointestinal stromal tumors may be sporadic or inherited in an autosomal dominant manner, alone or as a component of a syndrome associated with other tumors, such as in the context of neurofibromatosis type 1 (NF1). Patients have both gastrointestinal stromal tumors and paragangliomas. Susceptibility to the tumors was inherited in an apparently autosomal dominant manner, with incomplete penetrance. {ECO:0000269 PubMed:17804857}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Paragangliomas 3 (PGL3) [MIM:605373]: A neural crest tumor usually derived from the chromoreceptor tissue of a paraganglion. Paragangliomas can develop at various body sites, including the head, neck, thorax and abdomen. Most commonly, they are located in the head and neck region, specifically at the carotid bifurcation, the jugular foramen, the vagal nerve, and in the middle ear. {ECO:0000269 PubMed:11062460}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SDHC

Genetic Association Database (GAD)
SDHC
Human Genome Epidemiology (HuGE) Navigator
SDHC
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SDHC
genes like me logo Genes that share disorders with SDHC: view

No data available for Genatlas for SDHC Gene

Publications for SDHC Gene

  1. Isocitrate dehydrogenase mutations are rare in pheochromocytomas and paragangliomas. (PMID: 19915015) Gaal J. … Dinjens W.N. (J. Clin. Endocrinol. Metab. 2010) 3 22 46 64
  2. A role for succinate dehydrogenase genes in low chemoresponsiveness to hypoxia? (PMID: 19768395) Richalet J.P. … Elghozi J.L. (Clin. Auton. Res. 2009) 3 22 46 64
  3. Rationalization of genetic testing in patients with apparently sporadic pheochromocytoma/paraganglioma. (PMID: 19343621) CascA^n A. … Robledo M. (Horm. Metab. Res. 2009) 3 22 46 64
  4. Germline SDHB mutations and familial renal cell carcinoma. (PMID: 18728283) Ricketts C. … Maher E.R. (J. Natl. Cancer Inst. 2008) 3 22 46 64
  5. Single nucleotide polymorphisms in succinate dehydrogenase subunits and citrate synthase genes: association results for impaired spermatogenesis. (PMID: 17298551) Bonache S. … Larriba S. (Int. J. Androl. 2007) 3 22 46 64

Products for SDHC Gene

Sources for SDHC Gene

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