SDHD - succinate dehydrogenase complex subunit D Gene
Also Known as PGL; CBT1; CWS3; PGL1; QPs3; SDH4; cybS; CII-4; MC2DN3
生物種: Homo sapiens
About SDHD
This gene has 9 transcripts (splice variants), 229 orthologues and is associated with 62 phenotypes. Ubiquitous expression in kidney (RPKM 95.3), duodenum (RPKM 84.6) and 25 other tissues.
Summary
This gene encodes a member of complex II of the respiratory chain, which is responsible for the oxidation of succinate. The encoded protein is one of two integral membrane proteins anchoring the complex to the matrix side of the mitochondrial inner membrane. Mutations in this gene are associated with the formation of tumors, including hereditary paraganglioma. Transmission of disease occurs almost exclusively through the paternal allele, suggesting that this locus may be maternally imprinted. There are pseudogenes for this gene on chromosomes 1, 2, 3, 7, and 18. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2013]
SDHD Products (4)
| mRNA | Protein | Name |
|---|---|---|
| NM_001276503.2 | NP_001263432.1 | succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial isoform b precursor |
| NM_001276504.2 | NP_001263433.1 | succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial isoform c precursor |
| NM_001276506.2 | NP_001263435.1 | succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial isoform d precursor |
| NM_003002.4 | NP_002993.1 | succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial isoform a precursor |
| Molecular Function GO Annotation | Evidence | 参考文献 | 由来 |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
32296183 | GOA |
| Biological Process GO Annotation | Evidence | 参考文献 | 由来 |
|---|---|---|---|
| involved in tricarboxylic acid cycle |
IDA
IDA: Inferred from direct assay
|
9533030 | GOA |
| Cellular Component GO Annotation | Evidence | 参考文献 | 由来 |
|---|---|---|---|
| located in mitochondrial inner membrane |
IDA
IDA: Inferred from direct assay
|
9533030 | GOA |
| part of respiratory chain complex II (succinate dehydrogenase) |
IDA
IDA: Inferred from direct assay
|
37098072 | GOA |
SDHD Protein Structure
CybS: CybS, succinate dehydrogenase cytochrome B small subunit (53 - 158)
- 0
- 100
- 159 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial |
|
SDHD Protein-protein interaction Information
|
Type
|
タンパク質名 | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | 参考文献 |
|---|---|---|---|---|---|---|---|
|
Intra
|
SDHD | O14521 | RHBDD2 | Homo sapiens | Q6NTF9-3 | 32296183 | |
|
Intra
|
SDHD | O14521 | RHBDD2 | Homo sapiens | Q6NTF9-3 | 32296183 | |
|
Intra
|
SDHD | O14521 | RHBDD2 | Homo sapiens | Q6NTF9-3 | 32296183 |
関連疾患
| Diseases | Alias | |
|---|---|---|
| Paraganglioma And Gastric Stromal Sarcoma |
|
|
| Paragangliomas 1 |
|
|
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
|
| Mitochondrial Complex Ii Deficiency |
|
|
| Pheochromocytoma |
|
|
| Cowden Syndrome |
|
|
| Hereditary Paraganglioma-Pheochromocytoma Syndromes |
|
|
| Paraganglioma |
|
|
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
|
| Cowden Syndrome 1 |
|
|
| Bap1 Tumor Predisposition Syndrome |
|
|
| Inherited Cancer-Predisposing Syndrome |
|
|
| Carcinoid Syndrome |
|
|
| Glomus Tumor |
|
|
| Chondroma |
|
|
| Neurofibromatosis |
|
|
| Von Hippel-Lindau Syndrome |
|
|
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
|
| Persistent Generalized Lymphadenopathy |
|
|
| Extra-Adrenal Pheochromocytoma |
|
|
| Carney Triad |
|
|
| Gastric Leiomyosarcoma |
|
|
| Neurofibromatosis, Type I |
|
|
| Multiple Endocrine Neoplasia, Type Iia |
|
|
| Malignant Pheochromocytoma |
|
|
| Adrenal Medulla Cancer |
|
|
| Lymph Node Disease |
|
|
| Kearns-Sayre Syndrome |
|
|
| Multiple Endocrine Neoplasia |
|
|
| Neural Crest Tumor |
|
|
| Leprosy 3 |
|
|
| Endocrine Organ Benign Neoplasm |
|
|
| Indeterminate Leprosy |
|
|
| Multiple Endocrine Neoplasia, Type I |
|
|
| Neuroendocrine Tumor |
|
|
| Quadriplegia |
|
|
| Acoustic Neuroma |
|
|
| Leiomyoma Cutis |
|
|
| Dermis Tumor |
|
|
| Carotid Body Cancer |
|
|
| Tuberculoid Leprosy |
|
|
| Mobitz Type Ii Atrioventricular Block |
|
|
| Borderline Leprosy |
|
|
| Scrotum Melanoma |
|
|
| Adrenal Cortical Adenoma |
|
|
| Foster-Kennedy Syndrome |
|
|
| Cerebral Angioma |
|
|
| Horner'S Syndrome |
|
|
| Multiple Endocrine Neoplasia, Type Iib |
|
|
| Peripheral Nervous System Benign Neoplasm |
|
|
| Autonomic Nervous System Benign Neoplasm |
|
|
| Spastic Quadriplegia |
|
|
| Adrenal Carcinoma |
|
|
| Leigh Syndrome |
|
|
| Lepromatous Leprosy |
|
|
| Cranial Nerve Palsy |
|
|
| Hereditary Renal Cell Carcinoma |
|
|
| Cardiovascular Organ Benign Neoplasm |
|
|
| Fumarase Deficiency |
|
|
| Thyroid Gland Cancer |
|
|
| Renal Oncocytoma |
|
|
| Gastrointestinal Stromal Tumor |
|
|
| Gastric Liposarcoma |
|
|
| Carney Complex Variant |
|
|
| Dystonia |
|
|
Orthologs Information
| 生物種 | Symbol | 由来 | ID |
|---|---|---|---|
| Mus musculus | SDHD | MGD | MGI:1914175 |
| Rattus norvegicus | SDHD | RGD | RGD:735231 |
| Others | SDHD | NCBI |