SDHD (succinate dehydrogenase complex II, subunit D, integral membrane protein)
2002-02-01 Anne-Paule Gimenez-Roqueplo AffiliationDépartement de Génétique Moléculaire, Hôpital Européen Georges Pompidou, 20-40, rue Leblanc, 75908 Paris cedex 15, France
Identity
HGNC
LOCATION
11q23.1
LOCUSID
ALIAS
CBT1,CII-4,CWS3,MC2DN3,PGL,PGL1,QPs3,SDH4,cybS
FUSION GENES
DNA/RNA
Description
8895 bp, 4 exons
Transcription
A non transcribed sequence highly homologous to SDHD cDNA is present on chromosome 1p36-p34
Proteins
Description
159 amino acids and 17 kDa
Expression
widely expressed
Localisation
mitochondrial inner membrane
Function
Complex II (succinate-ubiquinone oxidoreductase) of the respiratory chain is involved in the oxidation of succinate, carries electrons from FADH to CoQ. It is composed of four nuclear-encoded subunits. The subunit D protein or small subunit (cybS) is one of two integral membrane proteins anchoring the complex to membrane.
Mutations
Germinal
Germline mutations cause hereditary paraganglioma. Different types of mutations are described. False-sense mutations, insertions and deletions leading to protein truncation and missense mutations.
Somatic
Loss of wild type allele in tumor DNA is usually observed.
Implicated in
Entity name
Hereditary paraganglioma type 1 (also called familial non chromaffin paragangliomas 1, or familial glomus tumor)
Disease
Hereditary paraganglioma type 1 (PGL1) is a rare autosomal dominant disorder. The disease is transmitted through fathers and no disease phenotype is transmetted maternally in accordance with a maternal genomic imprinting. Paragangliomas are slow growing highly vascular tumor, usually benign, derived from crest-neural cells. They are preferentially located in the neck (carotid body and glomus vagal) and head (glomus jugulare and tympanicum). They may be associated with pheochromocytomas.
Prognosis
It depends on extent of the disease at the time of diagnosis.
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 11323050 | 2001 | Germline SDHD mutation in familial phaeochromocytoma. | Astuti D et al |
| 10657297 | 2000 | Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. | Baysal BE et al |
| 11313745 | 2001 | A high-resolution integrated map spanning the SDHD gene at 11q23: a 1.1-Mb BAC contig, a partial transcript map and 15 new repeat polymorphisms in a tumour-suppressor region. | Baysal BE et al |
| 11605159 | 2001 | The R22X mutation of the SDHD gene in hereditary paraganglioma abolishes the enzymatic activity of complex II in the mitochondrial respiratory chain and activates the hypoxia pathway. | Gimenez-Roqueplo AP et al |
| 11156372 | 2000 | Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma. | Gimm O et al |
| 10482792 | 1999 | Characterization of the human SDHD gene encoding the small subunit of cytochrome b (cybS) in mitochondrial succinate-ubiquinone oxidoreductase. | Hirawake H et al |
| 11343322 | 2001 | Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma. | Milunsky JM et al |
| 11391798 | 2001 | Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene. | Taschner PE et al |
Other Information
Locus ID:
NCBI: 6392
MIM: 602690
HGNC: 10683
Ensembl: ENSG00000204370
Variants:
dbSNP: 6392
ClinVar: 6392
TCGA: ENSG00000204370
COSMIC: SDHD
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA165543618 | SDHAF2 | Gene | DataAnnotation | associated | |||
| PA35606 | SDHB | Gene | DataAnnotation | associated | |||
| PA35607 | SDHC | Gene | DataAnnotation | associated | |||
| PA445229 | Paraganglioma | Disease | DataAnnotation | associated | |||
| PA445315 | Pheochromocytoma | Disease | DataAnnotation | associated |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36223042 | 2023 | A need to tailor surveillance based on family history: describing a highly penetrant familial paraganglioma kindred with an SDHD pathogenic variant. | 0 |
| 36786389 | 2023 | Distortion in transmission of pathogenic SDHB- and SDHD-mutated alleles from parent to offspring. | 0 |
| 37011647 | 2023 | Clinical consensus guideline on the management of phaeochromocytoma and paraganglioma in patients harbouring germline SDHD pathogenic variants. | 11 |
| 36223042 | 2023 | A need to tailor surveillance based on family history: describing a highly penetrant familial paraganglioma kindred with an SDHD pathogenic variant. | 0 |
| 36786389 | 2023 | Distortion in transmission of pathogenic SDHB- and SDHD-mutated alleles from parent to offspring. | 0 |
| 37011647 | 2023 | Clinical consensus guideline on the management of phaeochromocytoma and paraganglioma in patients harbouring germline SDHD pathogenic variants. | 11 |
| 33219105 | 2022 | Characteristics of germline mutations in Korean patients with pheochromocytoma/paraganglioma. | 3 |
| 34808225 | 2022 | MicroRNA-101-3p Modulates Mitochondrial Metabolism via the Regulation of Complex II Assembly. | 7 |
| 34906457 | 2022 | Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD. | 3 |
| 36614070 | 2022 | The SDHD:p.H102R Variant Is Frequent in Russian Patients with Head and Neck Paragangliomas and Associated with Loss of 11p15.5 Region and Hypermethylation of H19-DMR. | 1 |
| 33219105 | 2022 | Characteristics of germline mutations in Korean patients with pheochromocytoma/paraganglioma. | 3 |
| 34808225 | 2022 | MicroRNA-101-3p Modulates Mitochondrial Metabolism via the Regulation of Complex II Assembly. | 7 |
| 34906457 | 2022 | Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD. | 3 |
| 36614070 | 2022 | The SDHD:p.H102R Variant Is Frequent in Russian Patients with Head and Neck Paragangliomas and Associated with Loss of 11p15.5 Region and Hypermethylation of H19-DMR. | 1 |
| 33649794 | 2021 | Bcl2l10 induces metabolic alterations in ovarian cancer cells by regulating the TCA cycle enzymes SDHD and IDH1. | 3 |
Citation
Anne-Paule Gimenez-Roqueplo
SDHD (succinate dehydrogenase complex II, subunit D, integral membrane protein)
Atlas Genet Cytogenet Oncol Haematol. 2002-02-01
Online version: http://atlasgeneticsoncology.org/gene/390/sdhd
