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Metazoan complexes |
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Details of SDHB gene in Homo sapiens
IDs | |||||||||
---|---|---|---|---|---|---|---|---|---|
Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
| SDHB | SDH,SDH1 | P21912 | DHSB_HUMAN | 6390 | ENSG00000117118 | Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial | SPROT |
Disease | |||||||||
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Disease | OMIM id | ||||||||
Pheochromocytoma (PCC) [MIM:171300]: A catecholamine- producing tumor of chromaffin tissue of the adrenal medulla or sympathetic paraganglia. The cardinal symptom, reflecting the increased secretion of epinephrine and norepinephrine, is hypertension, which may be persistent or intermittent. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. | 171300 | Paragangliomas 4 (PGL4) [MIM:115310]: A neural crest tumor usually derived from the chromoreceptor tissue of a paraganglion. Paragangliomas can develop at various body sites, including the head, neck, thorax and abdomen. Most commonly, they are located in the head and neck region, specifically at the carotid bifurcation, the jugular foramen, the vagal nerve, and in the middle ear. Note=The disease is caused by mutations affecting the gene represented in this entry. | 115310 | Paraganglioma and gastric stromal sarcoma (PGGSS) [MIM:606864]: Gastrointestinal stromal tumors may be sporadic or inherited in an autosomal dominant manner, alone or as a component of a syndrome associated with other tumors, such as in the context of neurofibromatosis type 1 (NF1). Patients have both gastrointestinal stromal tumors and paragangliomas. Susceptibility to the tumors was inherited in an apparently autosomal dominant manner, with incomplete penetrance. Note=The disease is caused by mutations affecting the gene represented in this entry. | 606864 | Cowden syndrome 2 (CWS2) [MIM:612359]: A form of Cowden syndrome, a hamartomatous polyposis syndrome with age-related penetrance. Cowden syndrome is characterized by hamartomatous lesions affecting derivatives of ectodermal, mesodermal and endodermal layers, macrocephaly, facial trichilemmomas (benign tumors of the hair follicle infundibulum), acral keratoses, papillomatous papules, and elevated risk for development of several types of malignancy, particularly breast carcinoma in women and thyroid carcinoma in both men and women. Colon cancer and renal cell carcinoma have also been reported. Hamartomas can be found in virtually every organ, but most commonly in the skin, gastrointestinal tract, breast and thyroid. Note=The disease may be caused by mutations affecting the gene represented in this entry. | 612359 |
Phenotypes
Abdominal symptom, Abnormal appendicular skeleton morphology, Abnormal bleeding, Abnormal emotion/affect behavior, Abnormal fear/anxiety-related behavior, Abnormal hand morphology, Abnormalities of the peripheral arteries, Abnormality of adrenal morphology, Abnormality of blood and blood-forming tissues, Abnormality of blood circulation, Abnormality of calcium homeostasis, Abnormality of cardiovascular system physiology, Abnormality of cation homeostasis, Abnormality of divalent inorganic cation homeostasis, Abnormality of higher mental function, Abnormality of ion homeostasis, Abnormality of limb bone morphology, Abnormality of metabolism/homeostasis, Abnormality of skeletal morphology, Abnormality of skin adnexa, Abnormality of skin morphology, Abnormality of skin pigmentation, Abnormality of the abdomen, Abnormality of the abdominal organs, Abnormality of the adrenal glands, Abnormality of the anterior segment of the eye, Abnormality of the cardiovascular system, Abnormality of the central nervous system, Abnormality of the cerebral vasculature, Abnormality of the cranial nerves, Abnormality of the ear, Abnormality of the endocrine system, Abnormality of the esophagus, Abnormality of the eye, Abnormality of the fundus, Abnormality of the gastrointestinal tract, Abnormality of the genitourinary system, Abnormality of the hand, Abnormality of the integument, Abnormality of the kidney, Abnormality of the lens, Abnormality of the nervous system, Abnormality of the peripheral nervous system, Abnormality of the posterior segment of the eye, Abnormality of the renal artery, Abnormality of the renal tubule, Abnormality of the retina, Abnormality of the skeletal system, Abnormality of the skin, Abnormality of the sweat gland, Abnormality of the systemic arterial tree, Abnormality of the upper limb, Abnormality of the upper urinary tract, Abnormality of the urinary system, Abnormality of the urinary system physiology, Abnormality of the vasculature, Abnormality of urine catecholamine concentration, Abnormality of urine homeostasis, Adrenal pheochromocytoma, Adult onset, Age of onset, All, Anxiety, Anxiety (with pheochromocytoma), Arrhythmia, Arterial stenosis, Autosomal dominant inheritance, Behavioural/Psychiatric Abnormality, Cafe-au-lait spot, Cataract, Cerebral hemorrhage, Congenital cataract, Congestive heart failure, Constipation, Cranial nerve paralysis, Dermatological manifestations of systemic disorders, Diaphoresis, Diaphoresis (with pheochromocytoma), Dysphagia, Elevated urinary catecholamines, Elevated urinary norepinephrine, Episodic hypertension, Extraadrenal pheochromocytoma, Fibroma, Gastrointestinal obstruction, Generalized abnormality of skin, Glomus jugular tumor, Headache, Headache (with pheochromocytoma), Hearing abnormality, Hemangioma, Hypercalcemia, Hyperhidrosis, Hypermelanotic macule, Hyperpigmentation of the skin, Hypertension, Hypertension associated with pheochromocytoma, Hypertensive retinopathy, Internal hemorrhage, Intestinal obstruction, Intracranial hemorrhage, Irregular hyperpigmentation, Large hands, Localized skin lesion, Malignant neoplasm of the central nervous system, Mode of inheritance, Morphological abnormality of the central nervous system, Neoplasm, Neoplasm by anatomical site, Neoplasm by histology, Neoplasm of the adrenal gland, Neoplasm of the adrenal medulla, Neoplasm of the central nervous system, Neoplasm of the endocrine system, Neoplasm of the genitourinary tract, Neoplasm of the nervous system, Neoplasm of the peripheral nervous system, Neoplasm of the skin, Neuroblastic tumors, Neuroblastoma, Neuroendocrine neoplasm, Neurofibromas, Onset, Onset and clinical course, Palpitations, Palpitations (with pheochromocytoma), Paraganglioma, Paraganglioma of head and neck, Paraganglioma-related cranial nerve palsy, Phenotypic abnormality, Pheochromocytoma, Positive regitine blocking test, Proteinuria, Pulsatile tinnitus, Pulsatile tinnitus (tympanic paraganglioma), Renal artery stenosis, Renal cell carcinoma, Renal neoplasm, Rhythm disturbances associated with pheochromocytoma, Tachycardia, Tachycardia (with pheochromocytoma), Tinnitus, Urinary tract neoplasm, Urticaria, Vascular neoplasm, Vascular skin abnormality.
Orthologs in other species | |||||||||
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M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
Sdhb | SdhB | sdhb-1 | SPU_026295 |
Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
---|---|---|---|---|---|---|---|---|---|
SDHB | SDHC | 0.826231225 | SDHB | SDHC | cpx75 | no | no | no | Novel |
NDUFS8 | SDHB | 0.251697995 | NDUFS8 | SDHB | cpx75 | no | no | no | Novel |
ACLY | SDHB | 0.284825135 | ACLY | SDHB | cpx75 | no | no | no | Novel |
MDH2 | SDHB | 0.160837782 | MDH2 | SDHB | cpx75 | no | no | no | Novel |
CS | SDHB | 0.203458845 | CS | SDHB | cpx75 | no | no | no | Novel |
SDHA | SDHB | 0.999999617 | SDHA | SDHB | cpx75 | no | yes | yes | Known |
SDHB | NDUFA2 | 0.244174675 | SDHB | NDUFA2 | cpx452 | no | no | no | Novel |