{"results":[{"entryType":"UniProtKB reviewed (Swiss-Prot)","primaryAccession":"Q9HBA0","secondaryAccessions":["B7ZKQ6","Q17R79","Q2Y122","Q2Y123","Q2Y124","Q86YZ6","Q8NDY7","Q8NG64","Q96Q92","Q96RS7","Q9HBC0"],"uniProtkbId":"TRPV4_HUMAN","entryAudit":{"firstPublicDate":"2005-04-26","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2005-04-26","entryVersion":202,"sequenceVersion":2},"annotationScore":5.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"1: Evidence at protein level","proteinDescription":{"recommendedName":{"fullName":{"value":"Transient receptor potential cation channel subfamily V member 4"},"shortNames":[{"value":"TrpV4"}]},"alternativeNames":[{"fullName":{"value":"Osm-9-like TRP channel 4"},"shortNames":[{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"11025659"}],"value":"OTRPC4"}]},{"fullName":{"value":"Transient receptor potential protein 12"},"shortNames":[{"value":"TRP12"}]},{"fullName":{"value":"Vanilloid receptor-like channel 2"}},{"fullName":{"value":"Vanilloid receptor-like protein 2"},"shortNames":[{"value":"VRL-2"}]},{"fullName":{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"11081638"}],"value":"Vanilloid receptor-related osmotically-activated channel"},"shortNames":[{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"11081638"}],"value":"VR-OAC"}]}]},"genes":[{"geneName":{"value":"TRPV4"},"synonyms":[{"value":"VRL2"},{"value":"VROAC"}]}],"comments":[{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q9EPK8"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11025659"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12724311"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16293632"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18587396"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18695040"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18826956"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19759329"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20037586"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21964574"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23136043"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25256292"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26249260"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"29899501"}],"value":"Non-selective calcium permeant cation channel involved in osmotic sensitivity and mechanosensitivity (PubMed:16293632, PubMed:18695040, PubMed:18826956, PubMed:22526352, PubMed:23136043, PubMed:29899501). Activation by exposure to hypotonicity within the physiological range exhibits an outward rectification (PubMed:18695040, PubMed:18826956, PubMed:29899501). Also activated by heat, low pH, citrate and phorbol esters (PubMed:16293632, PubMed:18695040, PubMed:18826956, PubMed:20037586, PubMed:21964574, PubMed:25256292). Increase of intracellular Ca(2+) potentiates currents. Channel activity seems to be regulated by a calmodulin-dependent mechanism with a negative feedback mechanism (PubMed:12724311, PubMed:18826956). Promotes cell-cell junction formation in skin keratinocytes and plays an important role in the formation and/or maintenance of functional intercellular barriers (By similarity). Acts as a regulator of intracellular Ca(2+) in synoviocytes (PubMed:19759329). Plays an obligatory role as a molecular component in the nonselective cation channel activation induced by 4-alpha-phorbol 12,13-didecanoate and hypotonic stimulation in synoviocytes and also regulates production of IL-8 (PubMed:19759329). Together with PKD2, forms mechano- and thermosensitive channels in cilium (PubMed:18695040). Negatively regulates expression of PPARGC1A, UCP1, oxidative metabolism and respiration in adipocytes (By similarity). Regulates expression of chemokines and cytokines related to pro-inflammatory pathway in adipocytes (By similarity). Together with AQP5, controls regulatory volume decrease in salivary epithelial cells (By similarity). Required for normal development and maintenance of bone and cartilage (PubMed:26249260). In its inactive state, may sequester DDX3X at the plasma membrane. When activated, the interaction between both proteins is affected and DDX3X relocalizes to the nucleus (PubMed:29899501). In neurons of the central nervous system, could play a role in triggering voluntary water intake in response to increased sodium concentration in body fluid (By similarity)"}],"commentType":"FUNCTION"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16293632"}],"value":"Non-selective calcium permeant cation channel involved in osmotic sensitivity and mechanosensitivity. Activation by exposure to hypotonicity within the physiological range exhibits an outward rectification. Also activated by phorbol esters. Has the same channel activity as isoform 1, and is activated by the same stimuli"}],"commentType":"FUNCTION","molecule":"Isoform 1"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16293632"}],"value":"Non-selective calcium permeant cation channel involved in osmotic sensitivity and mechanosensitivity. Activation by exposure to hypotonicity within the physiological range exhibits an outward rectification. Also activated by phorbol esters. Has the same channel activity as isoform 1, and is activated by the same stimuli"}],"commentType":"FUNCTION","molecule":"Isoform 5"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16293632"}],"value":"Lacks channel activity, due to impaired oligomerization and intracellular retention"}],"commentType":"FUNCTION","molecule":"Isoform 2"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16293632"}],"value":"Lacks channel activity, due to impaired oligomerization and intracellular retention"}],"commentType":"FUNCTION","molecule":"Isoform 4"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16293632"}],"value":"Lacks channel activity, due to impaired oligomerization and intracellular retention"}],"commentType":"FUNCTION","molecule":"Isoform 6"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"29899501"}],"value":"(Microbial infection) Facilitates hepatitis C virus (HCV) replication, possibly through its action on DDX3X"}],"commentType":"FUNCTION"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"29899501"}],"value":"(Microbial infection) Facilitates Dengue virus (DENV) replication, possibly through its action on DDX3X"}],"commentType":"FUNCTION"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"29899501"}],"value":"(Microbial infection) Facilitates Zika virus (ZIKV) replication, possibly through its action on DDX3X"}],"commentType":"FUNCTION"},{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"Ca(2+)(in) = Ca(2+)(out)","reactionCrossReferences":[{"database":"Rhea","id":"RHEA:29671"},{"database":"ChEBI","id":"CHEBI:29108"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11025659"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16293632"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18587396"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18695040"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18826956"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20037586"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21964574"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22526352"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23136043"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25256292"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"29899501"}]}},{"commentType":"CATALYTIC ACTIVITY","molecule":"Isoform 1","reaction":{"name":"Ca(2+)(in) = Ca(2+)(out)","reactionCrossReferences":[{"database":"Rhea","id":"RHEA:29671"},{"database":"ChEBI","id":"CHEBI:29108"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16293632"}]}},{"commentType":"CATALYTIC ACTIVITY","molecule":"Isoform 5","reaction":{"name":"Ca(2+)(in) = Ca(2+)(out)","reactionCrossReferences":[{"database":"Rhea","id":"RHEA:29671"},{"database":"ChEBI","id":"CHEBI:29108"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16293632"}]}},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25256292"}],"value":"Channel activation is inhibited by binding to phosphatidylinositol-4,5-bisphosphate, and to a much lesser degree by phosphatidylinositol-3,4,5-trisphosphate. Not inhibited by phosphatidylinositol-3,4-bisphosphate and phosphatidylinositol-3,5-bisphosphate"}],"commentType":"ACTIVITY REGULATION"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q9EPK8"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12724311"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16293632"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18695040"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18826956"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22328087"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22702953"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"29899501"},{"evidenceCode":"ECO:0000305"}],"value":"Homotetramer (Probable). Self-associates in an isoform-specific manner (PubMed:16293632). Isoform 1 and isoform 5 can oligomerize, but isoform 2, isoform 4 and isoform 6 cannot oligomerize (PubMed:16293632). Interacts with calmodulin (PubMed:12724311). Interacts with Map7 and Src family Tyr protein kinases LYN, SRC, FYN, HCK, LCK and YES (By similarity). Interacts with CTNNB1 (By similarity). The TRPV4 and CTNNB1 complex can interact with CDH1 (By similarity). Interacts with PACSIN1, PACSIN2 and PACSIN3 (via SH3 domain) (By similarity). Part of a complex containing MLC1, AQP4, HEPACAM and ATP1B1 (PubMed:22328087). Interacts with ITPR3 (PubMed:18826956). Interacts with AQP5; the interaction is probably indirect and regulates TRPV4 activation by hypotonicity (By similarity). Interacts with ANO1 (By similarity). Interacts (via C-terminus) with PKD2 (via C-terminus) (PubMed:18695040). Interacts with DDX3X; this interaction is decreased when the channel is activated (PubMed:29899501)"}],"commentType":"SUBUNIT"},{"commentType":"INTERACTION","interactions":[{"interactantOne":{"uniProtKBAccession":"Q9HBA0","intActId":"EBI-962786"},"interactantTwo":{"uniProtKBAccession":"Q9HBA0","geneName":"TRPV4","intActId":"EBI-962786"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q9HBA0","intActId":"EBI-962786"},"interactantTwo":{"uniProtKBAccession":"P47863","geneName":"Aqp4","intActId":"EBI-15907593"},"numberOfExperiments":2,"organismDiffer":true},{"interactantOne":{"uniProtKBAccession":"Q9HBA0","intActId":"EBI-962786"},"interactantTwo":{"uniProtKBAccession":"P47863-1","geneName":"Aqp4","intActId":"EBI-15907676"},"numberOfExperiments":2,"organismDiffer":true},{"interactantOne":{"uniProtKBAccession":"Q9HBA0-5","intActId":"EBI-10048039"},"interactantTwo":{"uniProtKBAccession":"Q9HBA0-1","geneName":"TRPV4","intActId":"EBI-961969"},"numberOfExperiments":3,"organismDiffer":false}]},{"commentType":"SUBCELLULAR LOCATION","note":{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16293632"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16403833"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20037587"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20037588"}],"value":"Assembly of the putative homotetramer occurs primarily in the endoplasmic reticulum (PubMed:16293632, PubMed:20037587, PubMed:20037588). Localization to the cell membrane is inhibited by WNK kinases (WNK1, WNK2, WNK3 or WNK4) in a kinase-independent mechanism (PubMed:16403833)"}]},"subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16403833"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"29899501"}],"value":"Cell membrane","id":"SL-0039"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18695040"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18826956"}],"value":"Apical cell membrane","id":"SL-0015"},"topology":{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"Multi-pass membrane protein","id":"SL-9909"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q9EPK8"}],"value":"Cell junction, adherens junction","id":"SL-0009"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18695040"}],"value":"Cell projection, cilium","id":"SL-0066"}}]},{"commentType":"SUBCELLULAR LOCATION","molecule":"Isoform 1","subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16293632"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21964574"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25256292"}],"value":"Cell membrane","id":"SL-0039"}}]},{"commentType":"SUBCELLULAR LOCATION","molecule":"Isoform 5","subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16293632"}],"value":"Cell membrane","id":"SL-0039"}}]},{"commentType":"SUBCELLULAR LOCATION","molecule":"Isoform 2","subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16293632"}],"value":"Endoplasmic reticulum","id":"SL-0095"}}]},{"commentType":"SUBCELLULAR LOCATION","molecule":"Isoform 4","subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16293632"}],"value":"Endoplasmic reticulum","id":"SL-0095"}}]},{"commentType":"SUBCELLULAR LOCATION","molecule":"Isoform 6","subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16293632"}],"value":"Endoplasmic reticulum","id":"SL-0095"}}]},{"commentType":"ALTERNATIVE PRODUCTS","events":["Alternative splicing"],"isoforms":[{"name":{"value":"1"},"synonyms":[{"value":"A"}],"isoformIds":["Q9HBA0-1"],"isoformSequenceStatus":"Displayed"},{"name":{"value":"2"},"synonyms":[{"value":"B"},{"value":"OTRPC4beta"}],"isoformIds":["Q9HBA0-2"],"sequenceIds":["VSP_013436"],"isoformSequenceStatus":"Described"},{"name":{"value":"3"},"synonyms":[{"value":"TRPV-SV"}],"isoformIds":["Q9HBA0-3"],"sequenceIds":["VSP_013437"],"isoformSequenceStatus":"Described"},{"name":{"value":"4"},"synonyms":[{"value":"C"}],"isoformIds":["Q9HBA0-4"],"sequenceIds":["VSP_026615"],"isoformSequenceStatus":"Described"},{"name":{"value":"5"},"synonyms":[{"value":"D"}],"isoformIds":["Q9HBA0-5"],"sequenceIds":["VSP_026614"],"isoformSequenceStatus":"Described"},{"name":{"value":"6"},"synonyms":[{"value":"E"}],"isoformIds":["Q9HBA0-6"],"sequenceIds":["VSP_026615","VSP_013436"],"isoformSequenceStatus":"Described"}]},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19759329"}],"value":"Found in the synoviocytes from patients with (RA) and without (CTR) rheumatoid arthritis (at protein level)"}],"commentType":"TISSUE SPECIFICITY"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"A0A1D5PXA5"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25256292"}],"value":"The ANK repeat region mediates interaction with Ca(2+)-calmodulin and ATP binding (By similarity). The ANK repeat region mediates interaction with phosphatidylinositol-4,5-bisphosphate and related phosphatidylinositides (PubMed:25256292)"}],"commentType":"DOMAIN"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16293632"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21964574"}],"value":"N-glycosylated"}],"commentType":"PTM"},{"texts":[{"value":"Genetic variations in TRPV4 determine the sodium serum level quantitative trait locus 1 (SSQTL1) [MIM:613508]. In some populations, variant Pro19Ser has been shown to be significantly associated with hyponatremia defined as serum sodium concentration below or equal to 135 mEq/L"}],"commentType":"POLYMORPHISM"},{"commentType":"DISEASE","disease":{"diseaseId":"Brachyolmia 3","diseaseAccession":"DI-01292","acronym":"BCYM3","description":"A form of brachyolmia, a clinically and genetically heterogeneous skeletal dysplasia primarily affecting the spine and characterized by a short trunk, short stature, and platyspondyly. BCYM3 is an autosomal dominant form with severe scoliosis with or without kyphosis, and flattened irregular cervical vertebrae.","diseaseCrossReference":{"database":"MIM","id":"113500"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18587396"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Spondylometaphyseal dysplasia Kozlowski type","diseaseAccession":"DI-02480","acronym":"SMDK","description":"A form of spondylometaphyseal dysplasia, a group of short stature disorders distinguished by abnormalities in the vertebrae and the metaphyses of the tubular bones. It is characterized by postnatal dwarfism, significant scoliosis and mild metaphyseal abnormalities in the pelvis. The vertebrae exhibit platyspondyly and overfaced pedicles.","diseaseCrossReference":{"database":"MIM","id":"184252"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19232556"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20577006"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22702953"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Metatropic dysplasia","diseaseAccession":"DI-02481","acronym":"MTD","description":"A severe spondyloepimetaphyseal dysplasia characterized by short limbs with limitation and enlargement of joints and usually severe kyphoscoliosis. Radiologic features include severe platyspondyly, severe metaphyseal enlargement and shortening of long bones.","diseaseCrossReference":{"database":"MIM","id":"156530"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19232556"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20425821"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20577006"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22702953"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26249260"},{"evidenceCode":"ECO:0000269","source":"Reference","id":"Ref.6"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Neuronopathy, distal hereditary motor, autosomal dominant 8","diseaseAccession":"DI-02688","acronym":"HMND8","description":"A form of distal hereditary motor neuronopathy, a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs.","diseaseCrossReference":{"database":"MIM","id":"600175"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20037588"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22526352"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22702953"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2C","diseaseAccession":"DI-02687","acronym":"CMT2C","description":"An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy.","diseaseCrossReference":{"database":"MIM","id":"606071"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20037586"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20037587"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20037588"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21115951"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21288981"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22702953"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25256292"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Scapuloperoneal spinal muscular atrophy","diseaseAccession":"DI-02689","acronym":"SPSMA","description":"A clinically variable neuromuscular disorder characterized by neurogenic scapuloperoneal amyotrophy, laryngeal palsy, congenital absence of muscles, progressive scapuloperoneal atrophy and progressive distal weakness and amyotrophy.","diseaseCrossReference":{"database":"MIM","id":"181405"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20037587"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22702953"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Spondyloepiphyseal dysplasia, Maroteaux type","diseaseAccession":"DI-02969","acronym":"SEDM","description":"An autosomal dominant, clinically variable spondyloepiphyseal dysplasia with manifestations limited to the musculoskeletal system. Clinical features include short stature, brachydactyly, platyspondyly, short and stubby hands and feet, epiphyseal hypoplasia of the large joints, and iliac hypoplasia. Intelligence is normal.","diseaseCrossReference":{"database":"MIM","id":"184095"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20503319"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22702953"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Parastremmatic dwarfism","diseaseAccession":"DI-02970","acronym":"PSTD","description":"A bone dysplasia characterized by severe dwarfism, kyphoscoliosis, distortion and bowing of the extremities, and contractures of the large joints. Radiographically, the disease is characterized by a combination of decreased bone density, bowing of the long bones, platyspondyly and striking irregularities of endochondral ossification with areas of calcific stippling and streaking in radiolucent epiphyses, metaphyses and apophyses.","diseaseCrossReference":{"database":"MIM","id":"168400"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20503319"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Digital arthropathy-brachydactyly, familial","diseaseAccession":"DI-03486","acronym":"FDAB","description":"A disorder characterized by irregularities in the proximal articular surfaces of the distal interphalangeal joints of the hand. Individuals appear normal at birth, with no clinical or radiographic evidence of a developmental skeletal dysplasia. The earliest changes appear during the first decade of life. By adulthood, all interphalangeal, metacarpophalangeal, and metatarsophalangeal joints are affected by a deforming, painful osteoarthritis. The remainder of the skeleton is clinically and radiographically unaffected.","diseaseCrossReference":{"database":"MIM","id":"606835"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21964574"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Avascular necrosis of the femoral head, primary 2","diseaseAccession":"DI-04965","acronym":"ANFH2","description":"A disease characterized by mechanical failure of the subchondral bone, and degeneration of the hip joint. It usually leads to destruction of the hip joint in the third to fifth decade of life. The clinical manifestations, such as pain on exertion, a limping gait, and a discrepancy in leg length, cause considerable disability.","diseaseCrossReference":{"database":"MIM","id":"617383"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"27330106"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16293632"}],"value":"Lacks channel activity, due to impaired oligomerization and intracellular retention"}],"commentType":"MISCELLANEOUS","molecule":"Isoform 2"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16293632"}],"value":"Lacks channel activity, due to impaired oligomerization and intracellular retention"}],"commentType":"MISCELLANEOUS","molecule":"Isoform 4"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16293632"}],"value":"Forms active ion channels"}],"commentType":"MISCELLANEOUS","molecule":"Isoform 5"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16293632"}],"value":"Lacks channel activity, due to impaired oligomerization and intracellular retention"}],"commentType":"MISCELLANEOUS","molecule":"Isoform 6"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"Belongs to the transient receptor (TC 1.A.4) family. TrpV subfamily. 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