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This gene encodes a member of the OSM9-like transient receptor potential channel (OTRPC) subfamily in the transient receptor potential (TRP) superfamily of ion channels. The encoded protein is a Ca2+-permeable, nonselective cation channel that is thought to be involved in the regulation of systemic osmotic pressure. Mutations in this gene are the cause of spondylometaphyseal and metatropic dysplasia and hereditary motor and sensory neuropathy type IIC. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2010]
[中文简述(自动翻译):]  这个基因编码离子通道的瞬时受体电位(TRP)家族的OSM9样瞬时受体电位通道(OTRPC)亚科的成员。所编码的蛋白质是一个钙离子-permeable,非选择性阳离子通道,被认为是参与全身渗透压的调节。在这个基因的突变是spondylometaphyseal和metatropic发育不良和遗传性运动感觉神经病变类型IIC的原因。已发现该基因编码不同亚型的多个抄本变形。 [由RefSeq的,2010年4月提供]
TRPV4基因(以及对应的蛋白质)的细胞分布位置:
TRPV4基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Metatropic dwarfism | 0.482442977 | 9 | 9 | BeFree_CLINVAR_CTD_human_ORPHANET_UNIPROT |
Brachyolmia Type 3 | 0.481628651 | 6 | 2 | BeFree_CLINVAR_CTD_human_ORPHANET_UNIPROT |
Spondylometaphyseal dysplasia, Kozlowski type | 0.481357209 | 6 | 5 | BeFree_CLINVAR_CTD_human_ORPHANET_UNIPROT |
Parastremmatic dwarfism | 0.480814326 | 4 | 1 | BeFree_CLINVAR_CTD_human_ORPHANET_UNIPROT |
Scapuloperoneal Form of Spinal Muscular Atrophy | 0.480542884 | 3 | 3 | BeFree_CLINVAR_CTD_human_ORPHANET_UNIPROT |
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder) | 0.360542884 | 6 | 0 | BeFree_CTD_human_ORPHANET_UNIPROT |
SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE | 0.360271442 | 1 | 4 | BeFree_CLINVAR_CTD_human_ORPHANET |
SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE (disorder) | 0.36 | 3 | 5 | CLINVAR_ORPHANET_UNIPROT |
Digital Arthropathy-Brachydactyly, Familial | 0.36 | 1 | 3 | CLINVAR_ORPHANET_UNIPROT |
Charcot-Marie-Tooth Disease | 0.241085767 | 5 | 4 | BeFree_CLINVAR_CTD_human |
Chronic Obstructive Airway Disease | 0.123452799 | 4 | 0 | BeFree_CTD_human_GAD |
Skeletal dysplasia | 0.122714419 | 10 | 39 | BeFree_CLINVAR |
Hyponatremia | 0.122367032 | 1 | 0 | CTD_human_GAD |
Spinal Muscular Atrophy | 0.121085767 | 5 | 0 | BeFree_CTD_human |
Hyperalgesia | 0.120542884 | 3 | 0 | BeFree_CTD_human |
Neuromuscular Diseases | 0.120542884 | 2 | 19 | BeFree_CLINVAR |
Charcot-Marie-Tooth disease, Type 2C | 0.120542884 | 2 | 8 | BeFree_CLINVAR |
Bone Diseases | 0.12 | 2 | 0 | CTD_human |
Degenerative polyarthritis | 0.12 | 1 | 0 | CTD_human |
Osteochondrodysplasias | 0.12 | 1 | 0 | CTD_human |
Urination Disorders | 0.12 | 1 | 0 | CTD_human |
SODIUM SERUM LEVEL QUANTITATIVE TRAIT LOCUS 1 | 0.12 | 0 | 0 | CTD_human |
DEAFNESS, AUTOSOMAL DOMINANT 25 (disorder) | 0.08 | 0 | 0 | MGD |
Cystic Fibrosis | 0.002995792 | 1 | 0 | BeFree_LHGDN |
Inflammatory Bowel Diseases | 0.002995792 | 1 | 0 | BeFree_LHGDN |
Neurogenic Inflammation | 0.00272435 | 1 | 0 | LHGDN |
Osteoporosis | 0.002638474 | 2 | 0 | BeFree_GAD |
Brachyolmia | 0.001628651 | 6 | 1 | BeFree |
Hereditary Motor and Sensory Neuropathies | 0.001357209 | 5 | 0 | BeFree |
Neuropathy | 0.001357209 | 5 | 0 | BeFree |
Peripheral Neuropathy | 0.001085767 | 4 | 0 | BeFree |
Axonal neuropathy | 0.001085767 | 4 | 0 | BeFree |
Distal Spinal Muscular Atrophy | 0.000814326 | 3 | 0 | BeFree |
Inherited neuropathies | 0.000814326 | 3 | 0 | BeFree |
Partial Paralysis (Paresis) Vocal Cords | 0.000814326 | 3 | 0 | BeFree |
Channelopathies | 0.000814326 | 3 | 0 | BeFree |
Hypercalcemia | 0.000542884 | 2 | 0 | BeFree |
Arthropathy | 0.000542884 | 2 | 0 | BeFree |
Polycystic Kidney Diseases | 0.000542884 | 2 | 0 | BeFree |
Vocal Cord Paralysis | 0.000542884 | 2 | 0 | BeFree |
Mechanical Allodynia | 0.000542884 | 2 | 0 | BeFree |
Congenital Abnormality | 0.000271442 | 1 | 0 | BeFree |
Bone Diseases, Developmental | 0.000271442 | 1 | 0 | BeFree |
Diabetic Nephropathy | 0.000271442 | 1 | 0 | BeFree |
Dwarfism | 0.000271442 | 1 | 0 | BeFree |
Gastroesophageal reflux disease | 0.000271442 | 1 | 0 | BeFree |
Irritable Bowel Syndrome | 0.000271442 | 1 | 0 | BeFree |
nervous system disorder | 0.000271442 | 1 | 0 | BeFree |
Neuralgia | 0.000271442 | 1 | 0 | BeFree |
Obesity | 0.000271442 | 1 | 0 | BeFree |
Pain | 0.000271442 | 1 | 0 | BeFree |
Precancerous Conditions | 0.000271442 | 1 | 0 | BeFree |
Pruritus | 0.000271442 | 1 | 0 | BeFree |
Respiration Disorders | 0.000271442 | 1 | 0 | BeFree |
Respiratory Tract Diseases | 0.000271442 | 1 | 0 | BeFree |
Burn scar | 0.000271442 | 1 | 0 | BeFree |
Sensory neuropathy | 0.000271442 | 1 | 0 | BeFree |
Secondary hypertension | 0.000271442 | 1 | 0 | BeFree |
Hepatoblastoma | 0.000271442 | 1 | 0 | BeFree |
Abnormal bone formation | 0.000271442 | 1 | 0 | BeFree |
Visceral Pain | 0.000271442 | 1 | 0 | BeFree |
Inflammatory pain | 0.000271442 | 1 | 0 | BeFree |
Peripheral motor neuropathy | 0.000271442 | 1 | 0 | BeFree |
Fibrosis, Liver | 0.000271442 | 1 | 0 | BeFree |
Childhood asthma | 0.000271442 | 1 | 2 | BeFree |
Hereditary Motor and Sensory-Neuropathy Type II | 0.000271442 | 1 | 0 | BeFree |
Skin carcinoma | 0.000271442 | 1 | 0 | BeFree |
Peripheral axonal neuropathy | 0.000271442 | 1 | 0 | BeFree |
Degenerative disorder | 0.000271442 | 1 | 0 | BeFree |
Skin Carcinogenesis | 0.000271442 | 1 | 0 | BeFree |
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