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Aliases for SDHD Gene

Aliases for SDHD Gene

  • Succinate Dehydrogenase Complex Subunit D 2 3 4
  • Succinate-Ubiquinone Oxidoreductase Cytochrome B Small Subunit 3 4
  • Succinate-Ubiquinone Reductase Membrane Anchor Subunit 3 4
  • CII-4 3 4
  • CybS 3 4
  • QPs3 3 4
  • SDH4 3 4
  • Succinate Dehydrogenase Complex, Subunit D, Integral Membrane Protein 2
  • Succinate Dehydrogenase Complex Subunit D, Integral Membrane Protein 5
  • Succinate Dehydrogenase Complex Subunit D Integral Membrane Protein 3
  • Small Subunit Of Cytochrome B 2
  • CBT1 3
  • CWS3 3
  • PGL1 3
  • PGL 3

External Ids for SDHD Gene

Previous HGNC Symbols for SDHD Gene

  • PGL
  • PGL1

Previous GeneCards Identifiers for SDHD Gene

  • GC11P114310
  • GC11P113469
  • GC11P111991
  • GC11P111495
  • GC11P111462
  • GC11P107881

Summaries for SDHD Gene

Entrez Gene Summary for SDHD Gene

  • 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 membrane. Mutations in this gene are associated with the formation of tumors, including hereditary paraganglioma. Transmission of disease occurs almost exclusively through the paternal allele, suggesting that this locus may be maternally imprinted. There are pseudogenes for this gene on chromosomes 1, 2, 3, 7, and 18. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2013]

GeneCards Summary for SDHD Gene

SDHD (Succinate Dehydrogenase Complex Subunit D) is a Protein Coding gene. Diseases associated with SDHD include Paragangliomas 1, With Or Without Deafness and Paraganglioma And Gastric Stromal Sarcoma. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Pyruvate metabolism and Citric Acid (TCA) cycle. GO annotations related to this gene include heme binding and ubiquinone binding. An important paralog of this gene is ENSG00000255292.

UniProtKB/Swiss-Prot for SDHD 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 SDHD Gene

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

Genomics for SDHD Gene

Regulatory Elements for SDHD Gene

Enhancers for SDHD Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SDHD on UCSC Golden Path with GeneCards custom track

Promoters for SDHD Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SDHD on UCSC Golden Path with GeneCards custom track

Genomic Location for SDHD Gene

Chromosome:
11
Start:
112,086,773 bp from pter
End:
112,120,013 bp from pter
Size:
33,241 bases
Orientation:
Plus strand

Genomic View for SDHD Gene

Genes around SDHD on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for SDHD Gene

Proteins for SDHD Gene

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

    Protein Symbol:
    O14521-DHSD_HUMAN
    Recommended name:
    Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial
    Protein Accession:
    O14521
    Secondary Accessions:
    • A6ND90
    • B3KQQ8
    • E9PIC0
    • E9PIG3
    • E9PQI9
    • Q53XW5
    • Q6IRW2

    Protein attributes for SDHD Gene

    Size:
    159 amino acids
    Molecular mass:
    17043 Da
    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 SDHD Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SDHD Gene

Proteomics data for SDHD Gene at MOPED

Post-translational modifications for SDHD Gene

No Post-translational modifications

Antibody Products

  • Abcam antibodies for SDHD

No data available for DME Specific Peptides for SDHD Gene

Domains & Families for SDHD Gene

Protein Domains for SDHD Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for SDHD Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O14521

UniProtKB/Swiss-Prot:

DHSD_HUMAN :
  • Belongs to the CybS family.
Family:
  • Belongs to the CybS family.
genes like me logo Genes that share domains with SDHD: view

Function for SDHD Gene

Molecular function for SDHD Gene

GENATLAS Biochemistry:
succinate dehydrogenase,cyb S subunit,liver,inner mitochondrial membrane,component 4 of complex II of mitochondrial respiratory chain (CII-4),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 SDHD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009055 electron carrier activity TAS 9533030
GO:0048039 ubiquinone binding ISS --
genes like me logo Genes that share ontologies with SDHD: view
genes like me logo Genes that share phenotypes with SDHD: view

Human Phenotype Ontology for SDHD Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SDHD Gene

MGI Knock Outs for SDHD:

Animal Model Products

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

Localization for SDHD Gene

Subcellular locations from UniProtKB/Swiss-Prot for SDHD Gene

Mitochondrion inner membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SDHD Gene COMPARTMENTS Subcellular localization image for SDHD gene
Compartment Confidence
mitochondrion 5
extracellular 1
lysosome 1
nucleus 1
plasma membrane 1
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components for SDHD Gene

Pathways & Interactions for SDHD Gene

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

UniProtKB/Swiss-Prot O14521-DHSD_HUMAN

  • Pathway: Carbohydrate metabolism; tricarboxylic acid cycle.

Gene Ontology (GO) - Biological Process for SDHD Gene

None

No data available for SIGNOR curated interactions for SDHD Gene

Drugs & Compounds for SDHD Gene

(9) Drugs for SDHD Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Hexachlorophene Approved, Withdrawn Pharma Target, inhibitor 3
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

(8) Additional Compounds for SDHD 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
genes like me logo Genes that share compounds with SDHD: view

Transcripts for SDHD Gene

Unigene Clusters for SDHD Gene

Succinate dehydrogenase complex, subunit D, integral membrane protein:
Representative Sequences:

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

No ASD Table

Relevant External Links for SDHD Gene

GeneLoc Exon Structure for
SDHD
ECgene alternative splicing isoforms for
SDHD

Expression for SDHD Gene

mRNA expression in normal human tissues for SDHD Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SDHD Gene

This gene is overexpressed in Bone (10.4) and Liver (7.2).

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



SOURCE GeneReport for Unigene cluster for SDHD Gene Hs.744039

genes like me logo Genes that share expression patterns with SDHD: view

Protein tissue co-expression partners for SDHD Gene

Primer Products

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

Orthologs for SDHD Gene

This gene was present in the common ancestor of animals.

Orthologs for SDHD Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SDHD 35
  • 86.97 (n)
  • 87.18 (a)
SDHD 36
  • 86 (a)
OneToMany
dog
(Canis familiaris)
Mammalia SDHD 35
  • 88.26 (n)
  • 86.16 (a)
mouse
(Mus musculus)
Mammalia Sdhd 35
  • 83.02 (n)
  • 82.39 (a)
Sdhd 16
Sdhd 36
  • 82 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia SDHD 35
  • 99.58 (n)
  • 98.74 (a)
rat
(Rattus norvegicus)
Mammalia Sdhd 35
  • 83.23 (n)
  • 81.13 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 69 (a)
OneToMany
chicken
(Gallus gallus)
Aves SDHD 35
  • 63.75 (n)
  • 66.42 (a)
SDHD 36
  • 61 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 83 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia sdhd 35
  • 64.91 (n)
  • 69.08 (a)
zebrafish
(Danio rerio)
Actinopterygii sdhdb 35
  • 60.82 (n)
  • 61.04 (a)
sdhda 36
  • 53 (a)
ManyToMany
sdhdb 36
  • 60 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG10219 36
  • 27 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea sdhd-1 36
  • 32 (a)
OneToMany
Species with no ortholog for SDHD:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • 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)

Evolution for SDHD Gene

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

Paralogs for SDHD Gene

Paralogs for SDHD Gene

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

Variants for SDHD Gene

Sequence variations from dbSNP and Humsavar for SDHD Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
VAR_010038 Paragangliomas 1 (PGL1)
VAR_010038 Pheochromocytoma (PCC)
VAR_010039 Paragangliomas 1 (PGL1)
VAR_010039 Pheochromocytoma (PCC)
VAR_010040 Paragangliomas 1 (PGL1)

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

Variant ID Type Subtype PubMed ID
esv2745077 CNV Deletion 23290073

Variation tolerance for SDHD Gene

Residual Variation Intolerance Score: 64.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.65; 31.55% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SDHD Gene

Human Gene Mutation Database (HGMD)
SDHD

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

Disorders for SDHD Gene

MalaCards: The human disease database

(43) MalaCards diseases for SDHD Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search SDHD in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DHSD_HUMAN
  • Cowden syndrome 3 (CWS3) [MIM:615106]: A form of Cowden syndrome, a hamartomatous polyposis syndrome with age-related penetrance. Cowden syndrome is characterized by hamartomatous lesions affecting derivatives of ectodermal, mesodermal and endodermal layers, macrocephaly, facial trichilemmomas (benign tumors of the hair follicle infundibulum), acral keratoses, papillomatous papules, and elevated risk for development of several types of malignancy, particularly breast carcinoma in women and thyroid carcinoma in both men and women. Colon cancer and renal cell carcinoma have also been reported. Hamartomas can be found in virtually every organ, but most commonly in the skin, gastrointestinal tract, breast and thyroid. {ECO:0000269 PubMed:18678321}. Note=The disease may be caused by mutations affecting the gene represented in this entry.
  • Intestinal carcinoid tumor (ICT) [MIM:114900]: A yellow, well-differentiated, circumscribed tumor that arises from enterochromaffin cells in the small intestine or, less frequently, in other parts of the gastrointestinal tract. {ECO:0000269 PubMed:12007193}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Mitochondrial complex II deficiency (MT-C2D) [MIM:252011]: A disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations. Clinical features include psychomotor regression in infants, poor growth with lack of speech development, severe spastic quadriplegia, dystonia, progressive leukoencephalopathy, muscle weakness, exercise intolerance, cardiomyopathy. Some patients manifest Leigh syndrome or Kearns-Sayre syndrome. {ECO:0000269 PubMed:24367056, ECO:0000269 PubMed:26008905}. 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.
  • Paragangliomas 1 (PGL1) [MIM:168000]: A neural crest tumor usually derived from the chromoreceptor tissue of a paraganglion. PGL1 is a rare autosomal dominant disorder which is characterized by the development of mostly benign, highly vascular, slowly growing tumors in the head and neck. In the head and neck region, the carotid body is the largest of all paraganglia and is also the most common site of the tumors. {ECO:0000269 PubMed:10657297, ECO:0000269 PubMed:11343322, ECO:0000269 PubMed:11391796, ECO:0000269 PubMed:11391798, ECO:0000269 PubMed:15328326}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Pheochromocytoma (PCC) [MIM:171300]: A catecholamine-producing tumor of chromaffin tissue of the adrenal medulla or sympathetic paraganglia. The cardinal symptom, reflecting the increased secretion of epinephrine and norepinephrine, is hypertension, which may be persistent or intermittent. {ECO:0000269 PubMed:11156372, ECO:0000269 PubMed:12000816, ECO:0000269 PubMed:15328326}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Relevant External Links for SDHD

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

No data available for Genatlas for SDHD Gene

Publications for SDHD Gene

  1. Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations. (PMID: 15328326) Neumann H.P.H. … Eng C. (JAMA 2004) 3 4 23 48 67
  2. Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma. (PMID: 16405730) Bayley J.P. … Taschner P.E. (BMC Med. Genet. 2006) 23 25 26
  3. Crystal structure of mitochondrial respiratory membrane protein complex II. (PMID: 15989954) Sun F. … Rao Z. (Cell 2005) 23 25 26
  4. The SDH mutation database: an online resource for succinate dehydrogenase sequence variants involved in pheochromocytoma, paraganglioma and mitochondrial complex II deficiency. (PMID: 16288654) Bayley J.P. … Taschner P.E. (BMC Med. Genet. 2005) 23 25 26
  5. Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD. (PMID: 19802898) Ricketts C.J. … Maher E.R. (Hum. Mutat. 2010) 3 23

Products for SDHD Gene

Sources for SDHD Gene

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