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SDHC succinate dehydrogenase complex subunit C [ Homo sapiens (human) ]

Gene ID: 6391, updated on 22-Sep-2022

Summary

Official Symbol
SDHCprovided by HGNC
Official Full Name
succinate dehydrogenase complex subunit Cprovided by HGNC
Primary source
HGNC:HGNC:10682
See related
Ensembl:ENSG00000143252 MIM:602413; AllianceGenome:HGNC:10682
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
CYBL; PGL3; QPS1; SDH3; CYB560
Summary
This gene encodes one of four nuclear-encoded subunits that comprise succinate dehydrogenase, also known as mitochondrial complex II, a key enzyme complex of the tricarboxylic acid cycle and aerobic respiratory chains of mitochondria. The encoded protein is one of two integral membrane proteins that anchor other subunits of the complex, which form the catalytic core, to the inner mitochondrial membrane. There are several related pseudogenes for this gene on different chromosomes. Mutations in this gene have been associated with paragangliomas. Alternatively spliced transcript variants have been described. [provided by RefSeq, May 2013]
Expression
Ubiquitous expression in kidney (RPKM 80.5), liver (RPKM 66.7) and 25 other tissues See more
Orthologs
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Genomic context

See SDHC in Genome Data Viewer
Location:
1q23.3
Exon count:
7
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (161314381..161375340)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (160451814..160512783)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (161284171..161345130)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904442 Neighboring gene myelin protein zero Neighboring gene cilia and flagella associated protein 126 Neighboring gene ribonucleotide reductase M2 polypeptide pseudogene 2 Neighboring gene uncharacterized LOC124904443

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 SDHC that are pathogenic or expected to be pathogenic.

GuidelinePubMed

Associated conditions

Description Tests
Carney-Stratakis syndrome
MedGen: C1847319 OMIM: 606864 GeneReviews: Not available
Compare labs
Gastrointestinal stromal tumor
MedGen: C0238198 OMIM: 606764 GeneReviews: Not available
Compare labs
Paragangliomas 3 Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2021-10-13)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2021-10-13)

ClinGen Genome Curation PagePubMed

EBI GWAS Catalog

Description
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables electron transfer activity IEA
Inferred from Electronic Annotation
more info
 
enables heme binding ISS
Inferred from Sequence or Structural Similarity
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 activity IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
succinate dehydrogenase cytochrome b560 subunit, mitochondrial
Names
cytochrome B large subunit of complex II
integral membrane protein CII-3b
large subunit of cytochrome b
succinate dehydrgenase cytochrome b
succinate dehydrogenase 3, integral membrane subunit
succinate dehydrogenase complex subunit C integral membrane protein 15kDa
succinate dehydrogenase complex, subunit C, integral membrane protein, 15kD
succinate-ubiquinone oxidoreductase cytochrome B large subunit

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_012767.1 RefSeqGene

    Range
    5001..55376
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_317

mRNA and Protein(s)

  1. NM_001035511.3NP_001030588.1  succinate dehydrogenase cytochrome b560 subunit, mitochondrial isoform 2 precursor

    See identical proteins and their annotated locations for NP_001030588.1

    Status: REVIEWED

    Source sequence(s)
    AL592295
    Consensus CDS
    CCDS41431.1
    UniProtKB/Swiss-Prot
    Q99643
    Related
    ENSP00000356952.3, ENST00000342751.8
    Conserved Domains (1) summary
    cl00881
    Location:5079
    SQR_QFR_TM; Succinate:quinone oxidoreductase (SQR) and Quinol:fumarate reductase (QFR) family, transmembrane subunits; SQR catalyzes the oxidation of succinate to fumarate coupled to the reduction of quinone to quinol, while QFR catalyzes the reverse reaction. SQR, ...
  2. NM_001035512.3NP_001030589.1  succinate dehydrogenase cytochrome b560 subunit, mitochondrial isoform 3 precursor

    See identical proteins and their annotated locations for NP_001030589.1

    Status: REVIEWED

    Source sequence(s)
    AL592295
    Consensus CDS
    CCDS44263.1
    UniProtKB/Swiss-Prot
    Q99643
    Related
    ENSP00000390558.2, ENST00000432287.6
    Conserved Domains (1) summary
    cd03499
    Location:19118
    SQR_TypeC_SdhC; Succinate:quinone oxidoreductase (SQR) Type C subfamily, Succinate dehydrogenase C (SdhC) subunit; composed of bacterial SdhC and eukaryotic large cytochrome b binding (CybL) proteins. SQR catalyzes the oxidation of succinate to fumarate coupled to the ...
  3. NM_001035513.3NP_001030590.1  succinate dehydrogenase cytochrome b560 subunit, mitochondrial isoform 4 precursor

    See identical proteins and their annotated locations for NP_001030590.1

    Status: REVIEWED

    Source sequence(s)
    AL592295
    Consensus CDS
    CCDS41432.1
    UniProtKB/Swiss-Prot
    Q99643
    UniProtKB/TrEMBL
    A0A0S2Z4C9
    Related
    ENSP00000376009.2, ENST00000392169.6
    Conserved Domains (1) summary
    cd03499
    Location:8115
    SQR_TypeC_SdhC; Succinate:quinone oxidoreductase (SQR) Type C subfamily, Succinate dehydrogenase C (SdhC) subunit; composed of bacterial SdhC and eukaryotic large cytochrome b binding (CybL) proteins. SQR catalyzes the oxidation of succinate to fumarate coupled to the ...
  4. NM_001278172.3NP_001265101.1  succinate dehydrogenase cytochrome b560 subunit, mitochondrial isoform 5 precursor

    See identical proteins and their annotated locations for NP_001265101.1

    Status: REVIEWED

    Source sequence(s)
    AL592295
    Consensus CDS
    CCDS60330.1
    UniProtKB/Swiss-Prot
    Q99643
    Related
    ENSP00000423260.1, ENST00000513009.5
    Conserved Domains (1) summary
    cl00881
    Location:1945
    SQR_QFR_TM; Succinate:quinone oxidoreductase (SQR) and Quinol:fumarate reductase (QFR) family, transmembrane subunits; SQR catalyzes the oxidation of succinate to fumarate coupled to the reduction of quinone to quinol, while QFR catalyzes the reverse reaction. SQR, ...
  5. NM_001407115.1NP_001394044.1  succinate dehydrogenase cytochrome b560 subunit, mitochondrial isoform 6 precursor

    Status: REVIEWED

    Source sequence(s)
    AL592295
  6. NM_001407116.1NP_001394045.1  succinate dehydrogenase cytochrome b560 subunit, mitochondrial isoform 7 precursor

    Status: REVIEWED

    Source sequence(s)
    AL592295
  7. NM_001407117.1NP_001394046.1  succinate dehydrogenase cytochrome b560 subunit, mitochondrial isoform 8 precursor

    Status: REVIEWED

    Source sequence(s)
    AL592295
  8. NM_001407118.1NP_001394047.1  succinate dehydrogenase cytochrome b560 subunit, mitochondrial isoform 9 precursor

    Status: REVIEWED

    Source sequence(s)
    AL592295
  9. NM_001407119.1NP_001394048.1  succinate dehydrogenase cytochrome b560 subunit, mitochondrial isoform 10

    Status: REVIEWED

    Source sequence(s)
    AL592295
  10. NM_001407120.1NP_001394049.1  succinate dehydrogenase cytochrome b560 subunit, mitochondrial isoform 10

    Status: REVIEWED

    Source sequence(s)
    AL592295
  11. NM_001407121.1NP_001394050.1  succinate dehydrogenase cytochrome b560 subunit, mitochondrial isoform 11 precursor

    Status: REVIEWED

    Source sequence(s)
    AL592295
  12. NM_003001.5NP_002992.1  succinate dehydrogenase cytochrome b560 subunit, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_002992.1

    Status: REVIEWED

    Source sequence(s)
    AL592295
    Consensus CDS
    CCDS1230.1
    UniProtKB/Swiss-Prot
    Q5VTH3, Q99643
    UniProtKB/TrEMBL
    A0A0S2Z4B7
    Related
    ENSP00000356953.3, ENST00000367975.7
    Conserved Domains (1) summary
    cd03499
    Location:50152
    SQR_TypeC_SdhC; Succinate:quinone oxidoreductase (SQR) Type C subfamily, Succinate dehydrogenase C (SdhC) subunit; composed of bacterial SdhC and eukaryotic large cytochrome b binding (CybL) proteins. SQR catalyzes the oxidation of succinate to fumarate coupled to the ...

RNA

  1. NR_103459.3 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL592295

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
    161314381..161375340
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    160451814..160512783
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)