SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip) [Homo sapiens] - Gene

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Summary

Official Symbol: SDHBprovided by HGNC
Official Full Name: succinate dehydrogenase complex, subunit B, iron sulfur (Ip)provided by HGNC
Primary source: HGNC:10681
See related: Ensembl:ENSG00000117118; HPRD:01707; MIM:185470; Vega:OTTHUMG00000002289
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: IP; SDH; PGL4; SDH1; SDH2; SDHIP; FLJ92337
Summary: 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]

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Genomic context

Location :: 1p36.1-p35

Sequence :: Chromosome: 1; NC_000001.10 (17345217..17380665, complement)

See SDHB in Epigenomics, MapViewer

Chromosome 1 - NC_000001.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Cowden syndrome patients have elevated risks of papillary thyroid cancer from SDHx alterations.
Title: Incidence and clinical characteristics of thyroid cancer in prospective series of individuals with Cowden and Cowden-like syndrome characterized by germline PTEN, SDH, or KLLN alterations.
case Report: combination of concurrent bilateral carotid body tumors and a unilateral glomus jugulare mass that demonstrated vascular continuity in a carrier of SDHB germline mutation
Title: Contiguous bilateral head and neck paragangliomas in a carrier of the SDHB germline mutation.
in the study, the majority of patients with metastatic pheochromocytoma/paraganglioma who presented with a primary tumor in childhood/adolescence had primary extra-adrenal tumors and harbored SDHB mutations
Title: Metastatic pheochromocytoma/paraganglioma related to primary tumor development in childhood or adolescence: significant link to SDHB mutations.
Report clinicopathologic, immunohistochemical, and molecular genetic study of gastric gastrointestinal stromal tumors with predilection to young age.
Title: Succinate dehydrogenase-deficient GISTs: a clinicopathologic, immunohistochemical, and molecular genetic study of 66 gastric GISTs with predilection to young age.
Renal tumors associated with germline SDHB mutation show distinctive morphology.
Title: Renal tumors associated with germline SDHB mutation show distinctive morphology.
Case Report: Bilateral adrenal medullary hyperplasia in patient with a germline SDHB mutation.
Title: Bilateral adrenal medullary hyperplasia associated with an SDHB mutation.
We suggest that gastrointestinal stromal tumorss of epithelioid cell morphology are tested for SDHB immunohistochemically.
Title: SDHB immunohistochemistry: a useful tool in the diagnosis of Carney-Stratakis and Carney triad gastrointestinal stromal tumors.
Mutation of the succinate dehydrogenase B gene is associated with pheochromocytoma
Title: A novel mutation of the succinate dehydrogenase B gene in a Korean family with pheochromocytoma.
a hypoxia-inducible factor (HIF)-related signature common to succinate dehydrogenase (SDH) and von Hippel-Lindau (VHL) tumors
Title: Research resource: Transcriptional profiling reveals different pseudohypoxic signatures in SDHB and VHL-related pheochromocytomas.
SDHB protein loss as a marker of adverse outcome both in sporadic and in familial pheochromocytomas/sympathetic paragangliomas.
Title: SDHB loss predicts malignancy in pheochromocytomas/sympathethic paragangliomas, but not through hypoxia signalling.

Submit: New GeneRIF Correction See all (70)

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Phenotypes

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci.

Gastrointestinal stromal tumor

MIM: 606764

Paraganglioma and gastric stromal sarcoma

MIM: 606864

HIV-1 protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	Using a yeast two-hybrid system, HIV-1 Tat has been shown to bind the human succinate-ubiquinone oxidoreductase iron sulfur subunit, suggesting a role for this protein in mediating the biological activity of Tat during HIV-1 replication	PubMed

Go to the HIV-1, Human Protein Interaction Database

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Products	Interactant	Other Gene	Source	Pubs	Description
BioGRID:112291	BioGRID:106537	ABCA1	BioGRID	PubMed	Two-hybrid
BioGRID:112291	BioGRID:108937	GEM	BioGRID	PubMed	Two-hybrid
BioGRID:112291	BioGRID:117079	PIK3R5	BioGRID	PubMed	Two-hybrid
BioGRID:112291	BioGRID:115547	SPRY2	BioGRID	PubMed	Two-hybrid
BioGRID:112291	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
2 iron, 2 sulfur cluster binding	ISS Inferred from Sequence or Structural Similarity more info
3 iron, 4 sulfur cluster binding	ISS Inferred from Sequence or Structural Similarity more info
4 iron, 4 sulfur cluster binding	ISS Inferred from Sequence or Structural Similarity more info
electron carrier activity	IEA Inferred from Electronic Annotation more info
metal ion binding	IEA Inferred from Electronic Annotation more info
oxidoreductase activity	IEA Inferred from Electronic Annotation more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed
succinate dehydrogenase (ubiquinone) activity	IEA Inferred from Electronic Annotation more info
ubiquinone binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
aerobic respiration	TAS Traceable Author Statement more info	PubMed
respiratory electron transport chain	TAS Traceable Author Statement more info
small molecule metabolic process	TAS Traceable Author Statement more info
succinate metabolic process	IEA Inferred from Electronic Annotation more info
transport	IEA Inferred from Electronic Annotation more info
tricarboxylic acid cycle	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
membrane	IEA Inferred from Electronic Annotation more info
mitochondrial inner membrane	ISS Inferred from Sequence or Structural Similarity more info
mitochondrial inner membrane	TAS Traceable Author Statement more info
mitochondrial respiratory chain complex II	ISS Inferred from Sequence or Structural Similarity more info
mitochondrion	IDA Inferred from Direct Assay more info	PubMed

General protein information

Preferred Names: succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial

Names: succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial; iron-sulfur subunit of complex II

NP_002991.2

EC 1.3.5.1

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_012340.1 RefSeqGene

Range

5001..40449

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_003000.2 → NP_002991.2 succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial precursor

Status: REVIEWED

Source sequence(s)

BC007840, BF796275, BU554163

Consensus CDS

CCDS176.1

UniProtKB/Swiss-Prot

P21912

Related

ENSP00000364649, OTTHUMP00000002396, ENST00000375499, OTTHUMT00000006603

Conserved Domains (2) summary

PLN00129
Location:37 – 271
Blast Score: 1141

PLN00129; succinate dehydrogenase [ubiquinone] iron-sulfur subunit

cl00159
Location:41 – 147
Blast Score: 367

fer2; 2Fe-2S iron-sulfur cluster binding domain. Iron-sulfur proteins play an important role in electron transfer processes and in various enzymatic reactions. The family includes plant and algal ferredoxins, which act as electron carriers in photosynthesis ...

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000001.10 Reference GRCh37.p5 Primary Assembly

Range

17345217..17380665, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000133.1 Alternate HuRef

Range

15589311..15624677, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AJ549502.2	CAE47739.1
genomic	AL049569.13	CAB96822.1
genomic	CH471134.1	EAW94828.1
		EAW94829.1
genomic	U17886.1	AAA80581.1
mRNA	AK312056.1	BAG34992.1
mRNA	BC007840.2	AAH07840.1
mRNA	BF796275.1	None
mRNA	BU554163.1	None
mRNA	D10245.1	BAA01089.1
mRNA	DQ403007.1	ABD77140.1
mRNA	M32246.1	AAA35708.1
mRNA	U17248.1	AAA81167.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
P21912.3	GenPept	UniProtKB/Swiss-Prot:P21912
Q0QEY7	GenPept	UniProtKB/TrEMBL:Q0QEY7
Q70SX8	GenPept	UniProtKB/TrEMBL:Q70SX8