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

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]

CIViC summary for SDHB Gene

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 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
GH01J017052 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 600.7 +0.4 389 3 HDGF SP1 CC2D1A ZFX ELF3 NKRF MLLT1 ZNF121 CEBPG POLR2A SDHB CROCC MFAP2 RPL22P3 FBXO42 CROCCP2 ARHGEF19 ATP13A2
GH01J017205 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.5 -153.0 -153008 5.4 SP1 ZNF121 ZSCAN21 ZBTB7A TRIM24 SP7 KLF14 CREM ZBED1 IKZF1 PADI1 CROCCP3 PADI3 PADI2 CROCC NBPF1 SDHB LINC01772 PADI4 LINC01783
GH01J017009 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 11 +42.5 42476 4.2 SP1 ZFX SIX5 ZNF148 NKRF ZBTB7A POLR2A KLF14 CREM MZF1 ATP13A2 MFAP2 ARHGEF19 CROCC CROCCP3 ENSG00000226526 ENSG00000235241 RPL22P3 LINC01772 PADI2
GH01J016921 Promoter/Enhancer 1.6 Ensembl ENCODE dbSUPER 10.5 +132.1 132056 2.2 SP1 MLLT1 MCM2 PRDM1 SMARCA4 GLIS2 GMEB1 IKZF1 PRDM10 ZNF512 EIF1AXP1 RPL22P3 MFAP2 SDHB FBXO42 ENSG00000238142 RCC2 MST1P2 CROCCP3 CROCCP2
GH01J017126 Enhancer 1.4 FANTOM5 ENCODE dbSUPER 11.5 -74.7 -74679 3.7 ZNF121 ZNF687 MAFK SP7 SP1 PRDM1 IKZF1 POLR2A ZNF600 ZEB2 PADI1 PADI3 SDHB CROCC PADI2 PADI4 PIR46847 LOC105376808 GC01M017106 GC01M017107
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SDHB on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SDHB gene promoter:
  • c-Ets-1
  • Ik-1
  • Lmo2
  • Nkx2-5
  • PPAR-gamma1
  • PPAR-gamma2
  • TBP
  • TFIID
  • ZID

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)
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 (By similarity). Interacts with SDHAF1; the interaction is required for iron-sulfur cluster incorporation into SDHB (PubMed:26749241).

neXtProt entry for SDHB Gene

Post-translational modifications for SDHB Gene

  • Ubiquitination at isoforms=233
  • Modification sites at PhosphoSitePlus

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

Suggested Antigen Peptide Sequences for SDHB Gene

GenScript: Design optimal peptide antigens:
  • Iron-sulfur subunit of complex II (DHSB_HUMAN)
  • Succinate dehydrogenase complex subunit B (Q0QEY7_HUMAN)
  • Succinate dehydrogenase complex, subunit B, iron sulfur (Ip) (Q70SX8_HUMAN)

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

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).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a quinone + succinate = a quinol + fumarate; Xref=Rhea:RHEA:40523, ChEBI:CHEBI:24646, ChEBI:CHEBI:29806, ChEBI:CHEBI:30031, ChEBI:CHEBI:132124; EC=1.3.5.1;.
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

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 Sdhb<tm1b(EUCOMM)Hmgu>

Animal Model Products

CRISPR Products

miRNA for SDHB Gene

miRTarBase miRNAs that target SDHB

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SDHB

Clone Products

  • Applied Biological Materials (abm): Clones for SDHB - Now 50% OFF >
  • * SDHB as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * SDHB tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
  • 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
mitochondrion 5
plasma membrane 4
nucleus 4
cytosol 1
extracellular 0

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 IDA,IEA --
GO:0005743 mitochondrial inner membrane TAS,IEA --
GO:0005749 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) IEA,ISS --
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 IEA,TAS --
GO:0006105 succinate metabolic process IEA --
GO:0009060 aerobic respiration TAS,IBA 21873635
GO:0022900 electron transport chain IEA --
GO:0022904 respiratory electron transport chain IBA 21873635
genes like me logo Genes that share ontologies with SDHB: view

Drugs & Compounds for SDHB Gene

(47) 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
Iron Approved, Experimental Pharma 1426
FAD Approved Pharma 0
Coenzyme Q10 Approved, Investigational Nutra 147
Ubiquinone-1 Experimental Pharma Target 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
QH(2)
  • Ubiquinol
  • Ubiquinol 0
  • Ubiquinol 1
  • Ubiquinol 50
  • Ubiquinol 7
QH2
  • CoQH2
  • Coenzymes QH2
  • Reduced ubiquinone
  • Ubiquinol
  • Ubiquinone-1
56275-39-9
Sulfide
  • S(2-)
  • Sulphide
  • Sulfanediide
  • Sulfur
18496-25-8
Ubiquinol 8
  • Reduced coenzyme Q8
  • Ubiquinol(8)
  • Ubiquinol-8
74075-00-6

(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

mRNA/cDNA for SDHB Gene

Unigene Clusters for SDHB Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SDHB

Clone Products

  • Applied Biological Materials (abm): Clones for SDHB - Now 50% OFF >
  • * SDHB as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * SDHB tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
  • 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, 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(3)
  • Muscle(2.8)
  • Heart(2.7)
  • Kidney(2.7)
  • 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
Regions:
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

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 35 34
  • 99.52 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SDHB 35 34
  • 90.48 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SDHB 35 34
  • 88.57 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 87 (a)
OneToMany
-- 35
  • 86 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Sdhb 17 35 34
  • 85.85 (n)
rat
(Rattus norvegicus)
Mammalia Sdhb 34
  • 84.65 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SDHB 35
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 35
  • 90 (a)
OneToMany
-- 35
  • 83 (a)
OneToMany
SDHB 34
  • 82.09 (n)
lizard
(Anolis carolinensis)
Reptilia SDHB 35
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sdhb 34
  • 79.98 (n)
Str.3423 34
African clawed frog
(Xenopus laevis)
Amphibia sdhb-prov 34
zebrafish
(Danio rerio)
Actinopterygii sdhb 35 34
  • 76.52 (n)
OneToMany
SDHB (2 of 2) 35
  • 49 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta SdhB 35 36 34
  • 65.34 (n)
OneToMany
CG7349 35 36
  • 41 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007309 34
  • 64.85 (n)
worm
(Caenorhabditis elegans)
Secernentea F42A8.2 36
  • 66 (a)
sdhb-1 35 34
  • 62.95 (n)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SDH2 37 35 34
  • 65.73 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E00683g 34
  • 65.43 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACL065C 34
  • 65.28 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons SDH2-2 34
  • 62.62 (n)
soybean
(Glycine max)
eudicotyledons Gma.5536 34
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.7643 34
rice
(Oryza sativa)
Liliopsida Os08g0120000 34
  • 59.75 (n)
Os.5499 34
corn
(Zea mays)
Liliopsida Zm.9421 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3286 35
  • 64 (a)
OneToOne
Cin.4731 34
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes sdh2 34
  • 62.27 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU00959 34
  • 61.11 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4731 34
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)
Aminode:
Evolutionary constrained regions (ECRs) for SDHB: view image

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 stroma tumor, Paragangliomas 4, Pheochromocytoma, Hereditary Paraganglioma-Pheochromocytoma Syndromes 17,028,691(-) AGAG/AG coding_sequence_variant, frameshift
rs1060503752 pathogenic, Gastrointestinal stroma 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

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

SNP Genotyping and Copy Number Assay Products

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
  • 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.

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 23 45 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 23 45 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 23 45 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 23 45 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 23 45 58

Products for SDHB Gene

Sources for SDHB Gene

Content
Loading form....