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Aliases for SDHC Gene

Aliases for SDHC Gene

  • Succinate Dehydrogenase Complex, Subunit C, Integral Membrane Protein, 15kDa 2 3
  • Succinate Dehydrogenase Complex, Subunit C, Integral Membrane Protein, 15kD 2 3
  • Succinate-Ubiquinone Oxidoreductase Cytochrome B Large Subunit 3 4
  • CYB560 3 4
  • QPS1 3 4
  • PGL3 3 6
  • CYBL 3 4
  • SDH3 3 4
  • Succinate Dehydrogenase Cytochrome B560 Subunit, Mitochondrial 3
  • Succinate Dehydrogenase 3, Integral Membrane Subunit 3
  • Succinate Dehydrogenase Complex Subunit C 4
  • Cytochrome B Large Subunit Of Complex II 3
  • Succinate Dehydrgenase Cytochrome B 3
  • Integral Membrane Protein CII-3b 3
  • Integral Membrane Protein CII-3 4
  • QPs-1 4

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, Integral Membrane Protein, 15kDa) is a Protein Coding gene. Diseases associated with SDHC include paragangliomas 3 and sdhc-related paraganglioma and gastric stromal sarcoma. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include electron carrier activity and succinate dehydrogenase activity.

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

Genomic Location for SDHC Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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; Note=The heme is bound between the two transmembrane subunits SDHC and SDHD.;
    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

Proteomics data for SDHC Gene at MOPED

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 for SDHC Gene

Gene Families for SDHC Gene

HGNC:
  • comII :Mitochondrial respiratory chain complex / Complex II

Graphical View of Domain Structure for InterPro Entry

Q99643

UniProtKB/Swiss-Prot:

C560_HUMAN :
  • Q99643
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 --
GO:0008177 contributes_to succinate dehydrogenase (ubiquinone) activity IBA --
GO:0009055 electron carrier activity IEA --
GO:0016627 oxidoreductase activity, acting on the CH-CH group of donors --
GO:0020037 heme binding ISS --
genes like me logo Genes that share ontologies with SDHC: view

Phenotypes for SDHC Gene

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

Animal Model Products

CRISPR Products

miRNA for SDHC Gene

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SDHC

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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
Jensen Localization Image for SDHC Gene COMPARTMENTS Subcellular localization image for SDHC gene
Compartment Confidence
mitochondrion 5
plasma membrane 3
nucleus 1

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 --
GO:0016021 integral component of membrane TAS 9533030
GO:0045273 respiratory chain complex II TAS 9533030
genes like me logo Genes that share ontologies with SDHC: view

Pathways for SDHC Gene

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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

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:0022904 respiratory electron transport chain TAS --
GO:0044237 cellular metabolic process TAS --
genes like me logo Genes that share ontologies with SDHC: view

Compounds for SDHC Gene

(9) HMDB Compounds for SDHC Gene

Compound Synonyms Cas Number PubMed IDs
FAD
  • 1H-Purin-6-amine flavin dinucleotide
146-14-5
Fumaric acid
  • (2E)-But-2-enedioate
110-17-8
Heme
  • (protoporphyrinato)iron
14875-96-8
Iron
  • Armco iron
7439-89-6
QH2
  • CoQH2
56275-39-9

(3) Drugbank Compounds for SDHC Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
2-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,4,5-Triol
target
Succinic acid
  • 1,2-Ethanedicarboxylic acid
110-15-6 target
UBIQUINONE-1
target

(12) Novoseek inferred chemical compound relationships for SDHC Gene

Compound -log(P) Hits PubMed IDs
succinate 88.6 50
fumarate 61.1 3
ubiquinone 52.1 1
iron-sulfur 49.3 3
polyethylenimine 49 4
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:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SDHC

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for SDHC

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 for SDHC Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SDHC Gene

SOURCE GeneReport for Unigene cluster for SDHC Gene Hs.444472

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

In Situ Assay 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
chimpanzee
(Pan troglodytes)
Mammalia SDHC 36
  • 59 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SDHC 35
  • 90.93 (n)
  • 89.94 (a)
SDHC 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SDHC 35
  • 91.32 (n)
  • 91.72 (a)
SDHC 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sdhc 35
  • 83.63 (n)
  • 79.88 (a)
Sdhc 16
Sdhc 36
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SDHC 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SDHC 36
  • 46 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sdhc 35
  • 83.43 (n)
  • 82.25 (a)
chicken
(Gallus gallus)
Aves SDHC 36
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SDHC 36
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sdhc 35
  • 69.63 (n)
  • 74.56 (a)
zebrafish
(Danio rerio)
Actinopterygii sdhc 35
  • 60.72 (n)
  • 63.57 (a)
sdhc 36
  • 60 (a)
OneToOne
wufa91d04 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010672 35
  • 48.65 (n)
  • 41.22 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG6629 36
  • 18 (a)
OneToMany
SdhC 35
  • 50.93 (n)
  • 44.8 (a)
SdhC 36
  • 32 (a)
OneToMany
Species with no ortholog for SDHC:
  • 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

Pseudogenes.org Pseudogenes 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 MAF
rs8266 -- 161,362,818(+) GGTTG(A/G)GGGGT utr-variant-3-prime, nc-transcript-variant
rs1802513 -- 161,363,055(+) AAGAT(C/T)TAGAA utr-variant-3-prime, nc-transcript-variant
rs3813632 -- 161,362,556(+) ATTTT(C/G)AGATC utr-variant-3-prime, nc-transcript-variant
rs3935401 -- 161,363,768(-) ACAGA(C/T)GAGAT utr-variant-3-prime, nc-transcript-variant
rs4077289 -- 161,344,244(+) GAGAT(C/T)GCGCC intron-variant

Relevant External Links for SDHC Gene

HapMap Linkage Disequilibrium report
SDHC
Human Gene Mutation Database (HGMD)
SDHC
Locus Specific Mutation Databases (LSDB)
SDHC

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for SDHC Gene

Disorders for SDHC Gene

(3) OMIM Diseases for SDHC Gene (602413)

UniProtKB/Swiss-Prot

C560_HUMAN
  • 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.
  • 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.

(22) Novoseek inferred disease relationships for SDHC Gene

Disease -log(P) Hits PubMed IDs
paraganglioma 95.7 93
pheochromocytoma 88.1 47
von hippel-lindau disease 80.7 5
multiple endocrine neoplasia 79.4 3
carotid body tumor 77.7 2

Relevant External Links for SDHC

GeneTests
SDHC
GeneReviews
SDHC
Genetic Association Database (GAD)
SDHC
Human Genome Epidemiology (HuGE) Navigator
SDHC
genes like me logo Genes that share disorders with SDHC: view

Publications for SDHC Gene

  1. Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas. (PMID: 11897817) Baysal B.E. … Rubinstein W.S. (J. Med. Genet. 2002) 3 23 48
  2. Autosomal dominant malignant and catecholamine-producing paraganglioma caused by a splice donor site mutation in SDHC. (PMID: 12658451) Niemann S. … Lohse P. (Hum. Genet. 2003) 2 3 23
  3. Mutations in SDHC cause autosomal dominant paraganglioma, type 3. (PMID: 11062460) Niemann S. … Mueller U. (Nat. Genet. 2000) 3 4 23
  4. No mutations but an increased frequency of SDHx polymorphisms in patients with sporadic and familial medullary thyroid carcinoma. (PMID: 16322339) Montani M. … Perren A. (Endocr. Relat. Cancer 2005) 3 23 48
  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 23 48

Products for SDHC Gene

Sources for SDHC Gene

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