Free for academic non-profit institutions. Other users need a Commercial license

Aliases for SDHB Gene

Aliases for SDHB Gene

  • Succinate Dehydrogenase Complex Iron Sulfur Subunit B 2 3
  • Succinate Dehydrogenase Complex Subunit B, Iron Sulfur (Ip) 2 3 5
  • Iron-Sulfur Subunit Of Complex II 2 3 4
  • Succinate Dehydrogenase Complex, Subunit B, Iron Sulfur (Ip) 2 3
  • Succinate Dehydrogenase [Ubiquinone] Iron-Sulfur Subunit 2 3
  • SDH1 3 4
  • SDH 3 4
  • IP 3 4
  • EC 1.3.5.1 4
  • SDHIP 3
  • SDH2 3
  • CWS2 3
  • PGL4 3

External Ids for SDHB Gene

Previous HGNC Symbols for SDHB Gene

  • SDH1
  • SDH

Previous GeneCards Identifiers for SDHB Gene

  • GC01M017082
  • GC01M016386
  • GC01M016726
  • GC01M017090
  • GC01M017217
  • GC01M017345
  • GC01M015589

Summaries for SDHB Gene

Entrez Gene Summary for SDHB Gene

  • Complex II of the respiratory chain, which is specifically involved in the oxidation of succinate, carries electrons from FADH to CoQ. The complex is composed of four nuclear-encoded subunits and is localized in the mitochondrial inner membrane. The iron-sulfur subunit is highly conserved and contains three cysteine-rich clusters which may comprise the iron-sulfur centers of the enzyme. Sporadic and familial mutations in this gene result in paragangliomas and pheochromocytoma, and support a link between mitochondrial dysfunction and tumorigenesis. [provided by RefSeq, Jul 2008]

GeneCards Summary for SDHB Gene

SDHB (Succinate Dehydrogenase Complex Iron Sulfur Subunit B) is a Protein Coding gene. Diseases associated with SDHB include paragangliomas 4 and paraganglioma and gastric stromal sarcoma. Among its related pathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. GO annotations related to this gene include oxidoreductase activity and 4 iron, 4 sulfur cluster binding.

UniProtKB/Swiss-Prot for SDHB Gene

  • Iron-sulfur protein (IP) 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 SDHB Gene

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

Genomics for SDHB Gene

Regulatory Elements for SDHB Gene

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

ENSRs around SDHB on UCSC Golden Path with GeneCards custom track

Genomic Location for SDHB Gene

Chromosome:
1
Start:
17,018,722 bp from pter
End:
17,054,170 bp from pter
Size:
35,449 bases
Orientation:
Minus strand

Genomic View for SDHB Gene

Genes around SDHB on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for SDHB Gene

Proteins for SDHB Gene

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

    Protein Symbol:
    P21912-SDHB_HUMAN
    Recommended name:
    Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial
    Protein Accession:
    P21912
    Secondary Accessions:
    • B2R545
    • Q0QEY7
    • Q9NQ12

    Protein attributes for SDHB Gene

    Size:
    280 amino acids
    Molecular mass:
    31630 Da
    Cofactor:
    Name=[2Fe-2S] cluster; Xref=ChEBI:CHEBI:49601;
    Cofactor:
    Name=[3Fe-4S] cluster; Xref=ChEBI:CHEBI:21137;
    Cofactor:
    Name=[4Fe-4S] cluster; Xref=ChEBI:CHEBI:49883;
    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.

neXtProt entry for SDHB Gene

Proteomics data for SDHB Gene at MOPED

Post-translational modifications for SDHB Gene

  • Ubiquitination at Lys 233
  • Modification sites at PhosphoSitePlus

Other Protein References for SDHB Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for SDHB Gene

Domains & Families for SDHB Gene

Graphical View of Domain Structure for InterPro Entry

P21912

UniProtKB/Swiss-Prot:

SDHB_HUMAN :
  • Contains 1 2Fe-2S ferredoxin-type domain.
  • Belongs to the succinate dehydrogenase/fumarate reductase iron-sulfur protein family.
Domain:
  • Contains 1 2Fe-2S ferredoxin-type domain.
  • Contains 1 4Fe-4S ferredoxin-type domain.
Family:
  • Belongs to the succinate dehydrogenase/fumarate reductase iron-sulfur protein family.
genes like me logo Genes that share domains with SDHB: view

Function for SDHB Gene

Molecular function for SDHB Gene

GENATLAS Biochemistry:
succinate dehydrogenase 1,iron sulfur protein,inner mitochondrial membrane, component,27.4kDa,of complex II of mitochondrial respiratory chain,oxidative phosphorylation, (OXPHOS),also catalyzing the seventh step of the citric acid cycle
UniProtKB/Swiss-Prot CatalyticActivity:
Succinate + a quinone = fumarate + a quinol.
UniProtKB/Swiss-Prot Function:
Iron-sulfur protein (IP) 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).

Enzyme Numbers (IUBMB) for SDHB Gene

Gene Ontology (GO) - Molecular Function for SDHB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008177 succinate dehydrogenase (ubiquinone) activity IEA --
GO:0009055 electron carrier activity IEA --
GO:0016491 oxidoreductase activity IEA --
GO:0051536 iron-sulfur cluster binding IEA --
GO:0051538 3 iron, 4 sulfur cluster binding IEA,ISS --
genes like me logo Genes that share ontologies with SDHB: view
genes like me logo Genes that share phenotypes with SDHB: view

Human Phenotype Ontology for SDHB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SDHB Gene

MGI Knock Outs for SDHB:
  • Sdhb tm1b(EUCOMM)Hmgu

Animal Model Products

miRNA for SDHB Gene

miRTarBase miRNAs that target SDHB

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for SDHB Gene

Localization for SDHB Gene

Subcellular locations from UniProtKB/Swiss-Prot for SDHB Gene

Mitochondrion inner membrane; Peripheral membrane protein; Matrix side.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SDHB Gene COMPARTMENTS Subcellular localization image for SDHB gene
Compartment Confidence
extracellular 5
mitochondrion 5
nucleus 5
plasma membrane 4
cytosol 1

Gene Ontology (GO) - Cellular Components for SDHB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion IEA,IDA --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with SDHB: view

Pathways & Interactions for SDHB Gene

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

UniProtKB/Swiss-Prot P21912-SDHB_HUMAN

  • Pathway: Carbohydrate metabolism; tricarboxylic acid cycle; fumarate from succinate (eukaryal route): step 1/1.

SIGNOR curated interactions for SDHB Gene

Is activated by:

Gene Ontology (GO) - Biological Process for SDHB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006105 succinate metabolic process IEA --
genes like me logo Genes that share ontologies with SDHB: view

Drugs & Compounds for SDHB Gene

(40) Drugs for SDHB Gene - From: Novoseek, DrugBank, and HMDB

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

(35) Additional Compounds for SDHB Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
QH(2)
QH2
  • Coenzymes QH2
  • CoQH2
  • Reduced ubiquinone
  • Ubiquinol
  • Ubiquinone-1
56275-39-9
Sulfide
  • Sulfanediide
  • Sulfide
  • Sulfur
  • Sulphide
18496-25-8
Ubiquinol 8
  • Ubiquinol(8)
  • Ubiquinol-8
56275-39-9
genes like me logo Genes that share compounds with SDHB: view

Transcripts for SDHB Gene

Unigene Clusters for SDHB Gene

Succinate dehydrogenase complex, subunit B, iron sulfur (Ip):
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for SDHB Gene

GeneLoc Exon Structure for
SDHB
ECgene alternative splicing isoforms for
SDHB

Expression for SDHB Gene

mRNA expression in normal human tissues for SDHB Gene

mRNA differential expression in normal tissues according to GTEx for SDHB Gene

This gene is overexpressed in Heart - Left Ventricle (x4.3).

Protein differential expression in normal tissues from HIPED for SDHB Gene

This gene is overexpressed in Heart (7.1) and Tlymphocyte (6.7).

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



SOURCE GeneReport for Unigene cluster for SDHB Gene Hs.465924

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

Protein tissue co-expression partners for SDHB Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for SDHB Gene

Orthologs for SDHB Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SDHB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SDHB 36
  • 100 (a)
OneToOne
SDHB 35
  • 99.52 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia SDHB 36
  • 94 (a)
OneToOne
SDHB 35
  • 88.57 (n)
  • 93.93 (a)
dog
(Canis familiaris)
Mammalia SDHB 35
  • 90.48 (n)
  • 95.36 (a)
SDHB 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sdhb 36
  • 91 (a)
OneToOne
Sdhb 16
Sdhb 35
  • 85.85 (n)
  • 92.45 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 86 (a)
OneToMany
-- 36
  • 87 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia SDHB 36
  • 62 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sdhb 35
  • 84.65 (n)
  • 91.73 (a)
chicken
(Gallus gallus)
Aves SDHB 35
  • 82.09 (n)
  • 90.19 (a)
-- 36
  • 83 (a)
OneToMany
-- 36
  • 90 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia SDHB 36
  • 72 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia sdhb-prov 35
tropical clawed frog
(Silurana tropicalis)
Amphibia sdhb 35
  • 79.98 (n)
  • 90.29 (a)
Str.3423 35
zebrafish
(Danio rerio)
Actinopterygii sdhb 36
  • 82 (a)
OneToMany
SDHB (2 of 2) 36
  • 49 (a)
OneToMany
sdhb 35
  • 76.52 (n)
  • 84.67 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007309 35
  • 64.85 (n)
  • 71.27 (a)
fruit fly
(Drosophila melanogaster)
Insecta SdhB 35
  • 65.34 (n)
  • 70.29 (a)
CG7349 37
  • 71 (a)
SdhB 37
  • 75 (a)
CG7349 36
  • 41 (a)
OneToMany
SdhB 36
  • 64 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea sdhb-1 35
  • 62.95 (n)
  • 63.94 (a)
sdhb-1 36
  • 58 (a)
OneToOne
F42A8.2 37
  • 66 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACL065C 35
  • 65.28 (n)
  • 73.44 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SDH2 36
  • 68 (a)
OneToOne
SDH2 38
SDH2 35
  • 65.73 (n)
  • 72.69 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E00683g 35
  • 65.43 (n)
  • 72.43 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.7643 35
soybean
(Glycine max)
eudicotyledons Gma.5536 35
thale cress
(Arabidopsis thaliana)
eudicotyledons SDH2-2 35
  • 62.62 (n)
  • 64.85 (a)
corn
(Zea mays)
Liliopsida Zm.9421 35
rice
(Oryza sativa)
Liliopsida Os.5499 35
Os08g0120000 35
  • 59.75 (n)
  • 60.38 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU00959 35
  • 61.11 (n)
  • 62.59 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes sdh2 35
  • 62.27 (n)
  • 66.4 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4731 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3286 36
  • 64 (a)
OneToOne
Species with no ortholog for SDHB:
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • 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 blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SDHB Gene

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

Paralogs for SDHB Gene

Pseudogenes.org Pseudogenes for SDHB Gene

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

No data available for Paralogs for SDHB Gene

Variants for SDHB Gene

Sequence variations from dbSNP and Humsavar for SDHB Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
VAR_054381 Pheochromocytoma (PCC)
rs33927012 - 17,027,802(-) ATGAA(C/T)CTCAG reference, missense
rs138996609 Pheochromocytoma (PCC) 17,022,685(+) CAGGC(A/G)CTCCT reference, missense
rs732679 -- 17,045,190(-) GTATC(A/G)CTCTT intron-variant
rs761420 -- 17,022,352(-) ATGCA(C/G)AGGAA intron-variant

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

Variant ID Type Subtype PubMed ID
dgv29e1 CNV Complex 17122850
nsv428421 CNV Gain+Loss 18775914
dgv40e1 CNV Complex 17122850
nsv834269 CNV Loss 17160897
nsv834280 CNV Loss 17160897
esv2662800 CNV Deletion 23128226

Variation tolerance for SDHB Gene

Residual Variation Intolerance Score: 63.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.67; 45.98% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SDHB Gene

HapMap Linkage Disequilibrium report
SDHB
Human Gene Mutation Database (HGMD)
SDHB

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

Disorders for SDHB Gene

MalaCards: The human disease database

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

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

UniProtKB/Swiss-Prot

SDHB_HUMAN
  • 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:11404820, ECO:0000269 PubMed:12000816, ECO:0000269 PubMed:12618761, ECO:0000269 PubMed:14500403, ECO:0000269 PubMed:14974914, ECO:0000269 PubMed:15328326, ECO:0000269 PubMed:17634472}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Paragangliomas 4 (PGL4) [MIM:115310]: 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:11404820, ECO:0000269 PubMed:11897817, ECO:0000269 PubMed:14715873, ECO:0000269 PubMed:14974914, ECO:0000269 PubMed:15328326}. 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.
  • Cowden syndrome 2 (CWS2) [MIM:612359]: 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.

Relevant External Links for SDHB

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

No data available for Genatlas for SDHB Gene

Publications for SDHB 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) 3 23 25 26
  3. Ubiquinone-binding site mutations in the Saccharomyces cerevisiae succinate dehydrogenase generate superoxide and lead to the accumulation of succinate. (PMID: 17636259) Szeto S.S. … Lemire B.D. (J. Biol. Chem. 2007) 23 25 26
  4. Increased HIF1 alpha in SDH and FH deficient tumors does not cause microsatellite instability. (PMID: 17520677) Lehtonen H.J. … Aaltonen L.A. (Int. J. Cancer 2007) 23 25 26
  5. 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

Products for SDHB Gene

Sources for SDHB Gene

Back to Top

Content