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SDHB succinate dehydrogenase complex iron sulfur subunit B [ Homo sapiens (human) ]

Gene ID: 6390, updated on 5-Mar-2023

Summary

Official Symbol
SDHBprovided by HGNC
Official Full Name
succinate dehydrogenase complex iron sulfur subunit Bprovided by HGNC
Primary source
HGNC:HGNC:10681
See related
Ensembl:ENSG00000117118 MIM:185470; AllianceGenome:HGNC:10681
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; CWS2; PGL4; SDH1; SDH2; SDHIP; MC2DN4
Summary
This tumor suppressor gene encodes the iron-sulfur protein subunit of the succinate dehydrogenase (SDH) enzyme complex which plays a critical role in mitochondria. The SDH enzyme complex is composed of four nuclear-encoded subunits. This enzyme complex converts succinate to fumarate which releases electrons as part of the citric acid cycle, and the enzyme complex additionally provides an attachment site for released electrons to be transferred to the oxidative phosphorylation pathway. The SDH enzyme complex plays a role in oxygen-related gene regulation through its conversion of succinate, which is an oxygen sensor that stabilizes the hypoxia-inducible factor 1 (HIF1) transcription factor. Sporadic and familial mutations in this gene result in paragangliomas, pheochromocytoma, and gastrointestinal stromal tumors, supporting a link between mitochondrial dysfunction and tumorigenesis. Mutations in this gene are also implicated in nuclear type 4 mitochondrial complex II deficiency. [provided by RefSeq, Jun 2022]
Expression
Ubiquitous expression in heart (RPKM 84.5), kidney (RPKM 76.7) and 25 other tissues See more
Orthologs
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Genomic context

See SDHB in Genome Data Viewer
Location:
1p36.13
Exon count:
8
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (17018722..17054032, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (16829151..16864469, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (17345217..17380527, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376806 Neighboring gene microfibril associated protein 2 Neighboring gene ATPase cation transporting 13A2 Neighboring gene peptidyl arginine deiminase 2 Neighboring gene uncharacterized LOC124903861 Neighboring gene uncharacterized LOC105376808

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Professional guidelines

Description
Professional guideline
ACMG 2013

The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in SDHB that are pathogenic or expected to be pathogenic.

GuidelinePubMed

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2020-07-22)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2020-07-22)

ClinGen Genome Curation PagePubMed

EBI GWAS Catalog

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

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat tat HIV-1 Tat downregulates succinate dehydrogenase complex, subunit B, iron sulfur (SDHB) expression in Jurkat T-cells PubMed
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 Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ92337

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 2 iron, 2 sulfur cluster binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables 3 iron, 4 sulfur cluster binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables 4 iron, 4 sulfur cluster binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables electron transfer activity IEA
Inferred from Electronic Annotation
more info
 
enables fumarate reductase (menaquinone) IEA
Inferred from Electronic Annotation
more info
 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables succinate dehydrogenase (ubiquinone) activity IEA
Inferred from Electronic Annotation
more info
 
enables ubiquinone binding ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
involved_in aerobic respiration IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in mitochondrial electron transport, succinate to ubiquinone NAS
Non-traceable Author Statement
more info
PubMed 
involved_in proton motive force-driven mitochondrial ATP synthesis NAS
Non-traceable Author Statement
more info
PubMed 
involved_in respiratory electron transport chain IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in succinate metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in tricarboxylic acid cycle IEA
Inferred from Electronic Annotation
more info
 
involved_in tricarboxylic acid cycle NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
located_in mitochondrial inner membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in mitochondrial inner membrane TAS
Traceable Author Statement
more info
 
is_active_in mitochondrial membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) ISS
Inferred from Sequence or Structural Similarity
more info
 
part_of mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) NAS
Non-traceable Author Statement
more info
PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial
Names
iron-sulfur subunit of complex II
succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
NP_002991.2

NCBI Reference Sequences (RefSeq)

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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

  1. NG_012340.1 RefSeqGene

    Range
    5001..40449
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_316

mRNA and Protein(s)

  1. NM_001407361.1NP_001394290.1  succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial isoform 2

    Status: REVIEWED

    Source sequence(s)
    AL049569
  2. NM_003000.3NP_002991.2  succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_002991.2

    Status: REVIEWED

    Source sequence(s)
    BC007840, BF796275, BU554163
    Consensus CDS
    CCDS176.1
    UniProtKB/Swiss-Prot
    P21912, Q9NQ12
    Related
    ENSP00000364649.3, ENST00000375499.8
    Conserved Domains (1) summary
    PLN00129
    Location:5271
    PLN00129; succinate dehydrogenase [ubiquinone] iron-sulfur subunit

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    17018722..17054032 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_025791756.1 Reference GRCh38.p14 PATCHES

    Range
    1433916..1469227 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    16829151..16864469 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)