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Aliases for SDHB Gene

Aliases for SDHB Gene

  • Succinate Dehydrogenase Complex Iron Sulfur Subunit B 2 3 5
  • Iron-Sulfur Subunit Of Complex II 2 3 4
  • Succinate Dehydrogenase Complex, Subunit B, Iron Sulfur (Ip) 2 3
  • SDH1 3 4
  • SDH 3 4
  • IP 3 4
  • Succinate Dehydrogenase [Ubiquinone] Iron-Sulfur Subunit, Mitochondrial 3
  • Succinate Dehydrogenase Complex Subunit B, Iron Sulfur (Ip) 2
  • Succinate Dehydrogenase [Ubiquinone] Iron-Sulfur Subunit 2
  • 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 Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Pyruvate metabolism and Citric Acid (TCA) cycle. Gene Ontology (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

Additional gene information for SDHB Gene

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

Genomics for SDHB Gene

GeneHancer (GH) Regulatory Elements for SDHB Gene

Promoters and enhancers for SDHB Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I017052 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 550.8 +0.6 576 2.7 HDGF PKNOX1 CLOCK FOXA2 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B SDHB MFAP2 RPL22P3 ARHGEF19 ATP13A2
GH01I017055 Enhancer 0.4 ENCODE 550.8 -1.1 -1051 0.2 ZNF24 ZBTB33 SDHB PADI2
GH01I016921 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 10.5 +132.3 132257 1.8 HDAC1 HDGF KLF17 SIN3A ETS1 ZNF335 GLIS2 ZNF366 SCRT2 ZNF143 CROCC EIF1AXP1 RPL22P3 MFAP2 SDHB FBXO42 LOC105376805 RCC2 MST1P2 GC01M016886
GH01I017126 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 11.5 -74.7 -74679 3.7 PKNOX1 INSM2 KLF17 SIN3A RAD21 BRCA1 RFX5 ETS1 ZEB1 ZNF121 PADI1 PADI3 SDHB CROCC PADI2 PADI4 PIR46847 LOC105376808 GC01M017106 GC01M017107
GH01I017206 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 10.5 -154.2 -154163 3.1 PKNOX1 ATF1 SMAD1 ZNF2 IRF4 ZNF121 GLIS2 ELK1 ZNF143 KLF7 CROCCP3 PADI3 PADI2 CROCC NBPF1 SDHB LINC01772 PADI4 PADI1 GC01M017106
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SDHB on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SDHB gene promoter:

Genomic Locations for SDHB Gene

Genomic Locations for SDHB Gene
chr1:17,018,722-17,054,170
(GRCh38/hg38)
Size:
35,449 bases
Orientation:
Minus strand
chr1:17,345,217-17,380,665
(GRCh37/hg19)

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

Post-translational modifications for SDHB Gene

Other Protein References for SDHB Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SDHB Gene

Domains & Families for SDHB Gene

Gene Families for SDHB Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted secreted proteins

Graphical View of Domain Structure for InterPro Entry

P21912

UniProtKB/Swiss-Prot:

SDHB_HUMAN :
  • Belongs to the succinate dehydrogenase/fumarate reductase iron-sulfur protein family.
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

Phenotypes From GWAS Catalog for SDHB Gene

Gene Ontology (GO) - Molecular Function for SDHB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15961414
GO:0008177 succinate dehydrogenase (ubiquinone) activity IEA --
GO:0009055 electron transfer activity IEA --
GO:0016491 oxidoreductase activity IEA --
GO:0046872 metal ion binding IEA --
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

CRISPR Products

miRNA for SDHB Gene

miRTarBase miRNAs that target SDHB

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for SDHB

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
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 SDHB gene
Compartment Confidence
extracellular 5
mitochondrion 5
nucleus 5
plasma membrane 4
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
  • Nucleoplasm (1)
  • Plasma membrane (1)
See all subcellular structures

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:0005743 mitochondrial inner membrane IEA,TAS --
GO:0005749 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) ISS,IEA --
GO:0005886 plasma membrane IDA --
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:0006099 tricarboxylic acid cycle TAS,IEA --
GO:0006105 succinate metabolic process IEA --
GO:0009060 aerobic respiration TAS 2302193
GO:0022900 electron transport chain IEA --
GO:0022904 respiratory electron transport chain IBA,IEA --
genes like me logo Genes that share ontologies with SDHB: view

Drugs & Compounds for SDHB Gene

(46) Drugs for SDHB 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
Coenzyme Q10 Approved, Investigational Nutra 129
Ubiquinone-1 Experimental Pharma Target 0
2-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,4,5-Triol Experimental Pharma Target 0

(31) 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

(1) ApexBio Compounds for SDHB Gene

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

Drug Products

Transcripts for SDHB Gene

Unigene Clusters for SDHB Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for SDHB

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for SDHB Gene



Protein tissue co-expression partners for SDHB Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SDHB Gene:

SDHB

SOURCE GeneReport for Unigene cluster for SDHB Gene:

Hs.465924

Evidence on tissue expression from TISSUES for SDHB Gene

  • Nervous system(4.7)
  • Liver(4.6)
  • Adrenal gland(3.5)
  • Lung(2.9)
  • Muscle(2.8)
  • Kidney(2.7)
  • Heart(2.6)
  • Lymph node(2.4)
  • Thyroid gland(2.4)
  • Intestine(2.3)
  • Stomach(2.3)
  • Blood(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SDHB Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • hypothalamus
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • meninges
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • parathyroid
  • pharynx
  • pituitary gland
  • salivary gland
  • skull
  • thyroid
  • tongue
  • tooth
  • vocal cord
Thorax:
  • breast
  • chest wall
  • clavicle
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • trachea
Abdomen:
  • adrenal gland
  • appendix
  • duodenum
  • intestine
  • kidney
  • large intestine
  • small intestine
  • stomach
Pelvis:
  • ovary
  • pelvis
  • penis
  • rectum
  • testicle
  • ureter
  • urethra
  • urinary bladder
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • spinal cord
  • sweat gland
  • vertebrae
genes like me logo Genes that share expression patterns with SDHB: view

Primer 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 33 34
  • 99.52 (n)
dog
(Canis familiaris)
Mammalia SDHB 33 34
  • 90.48 (n)
cow
(Bos Taurus)
Mammalia SDHB 33 34
  • 88.57 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 87 (a)
OneToMany
-- 34
  • 86 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Sdhb 33 16 34
  • 85.85 (n)
rat
(Rattus norvegicus)
Mammalia Sdhb 33
  • 84.65 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SDHB 34
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 34
  • 90 (a)
OneToMany
-- 34
  • 83 (a)
OneToMany
SDHB 33
  • 82.09 (n)
lizard
(Anolis carolinensis)
Reptilia SDHB 34
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sdhb 33
  • 79.98 (n)
Str.3423 33
African clawed frog
(Xenopus laevis)
Amphibia sdhb-prov 33
zebrafish
(Danio rerio)
Actinopterygii sdhb 33 34
  • 76.52 (n)
SDHB (2 of 2) 34
  • 49 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG7349 35 34
  • 71 (a)
SdhB 35 33 34
  • 65.34 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007309 33
  • 64.85 (n)
worm
(Caenorhabditis elegans)
Secernentea F42A8.2 35
  • 66 (a)
sdhb-1 33 34
  • 62.95 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SDH2 33 34 36
  • 65.73 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E00683g 33
  • 65.43 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACL065C 33
  • 65.28 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons SDH2-2 33
  • 62.62 (n)
soybean
(Glycine max)
eudicotyledons Gma.5536 33
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.7643 33
rice
(Oryza sativa)
Liliopsida Os08g0120000 33
  • 59.75 (n)
Os.5499 33
corn
(Zea mays)
Liliopsida Zm.9421 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3286 34
  • 64 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes sdh2 33
  • 62.27 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU00959 33
  • 61.11 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4731 33
Species where no ortholog for SDHB was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs1045881797 pathogenic, uncertain-significance, Hereditary Paraganglioma-Pheochromocytoma Syndromes, Hereditary cancer-predisposing syndrome 17,024,062(-) C/A/T coding_sequence_variant, missense_variant, stop_gained
rs1049317868 uncertain-significance, Hereditary cancer-predisposing syndrome 17,027,807(-) T/C coding_sequence_variant, missense_variant
rs1057517537 uncertain-significance, Paragangliomas 4, Hereditary cancer-predisposing syndrome 17,022,624(-) G/A coding_sequence_variant, missense_variant
rs1060503751 pathogenic, Gastrointestinal stromal tumor, Paragangliomas 4, Pheochromocytoma, Hereditary Paraganglioma-Pheochromocytoma Syndromes 17,028,691(-) AGAG/AG coding_sequence_variant, frameshift
rs1060503752 pathogenic, Gastrointestinal stromal tumor, Paragangliomas 4, Pheochromocytoma 17,023,994(-) CA/ coding_sequence_variant, frameshift

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

Variant ID Type Subtype PubMed ID
esv2662800 CNV deletion 23128226
esv2758925 CNV gain+loss 17122850
esv3585358 CNV loss 21293372
nsv428421 CNV gain+loss 18775914
nsv545690 CNV gain 21841781
nsv834269 CNV loss 17160897
nsv834280 CNV loss 17160897

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)

Additional Variant Information for SDHB Gene

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

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

Disorders for SDHB Gene

MalaCards: The human disease database

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

- 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
  • 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. CWS2 inheritance is autosomal dominant. {ECO:0000269 PubMed:18678321}. Note=The disease may be 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 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.
  • 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.

Additional Disease Information for SDHB

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

No data available for Genatlas for SDHB Gene

Publications for SDHB Gene

  1. Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes. (PMID: 18678321) Ni Y … Eng C (American journal of human genetics 2008) 3 4 22 44 58
  2. Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations. (PMID: 15328326) Neumann HP … European-American Paraganglioma Study Group (JAMA 2004) 3 4 22 44 58
  3. Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas. (PMID: 11897817) Baysal BE … Rubinstein WS (Journal of medical genetics 2002) 3 4 22 44 58
  4. Germ-line mutations in nonsyndromic pheochromocytoma. (PMID: 12000816) Neumann HP … Freiburg-Warsaw-Columbus Pheochromocytoma Study Group (The New England journal of medicine 2002) 3 4 22 44 58
  5. Familial malignant catecholamine-secreting paraganglioma with prolonged survival associated with mutation in the succinate dehydrogenase B gene. (PMID: 12213855) Young AL … Young WF (The Journal of clinical endocrinology and metabolism 2002) 3 4 22 44 58

Products for SDHB Gene

Sources for SDHB Gene

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