Details for: TRPV4
Associated with
Other Information
Genular Protein ID: 2385922818
Symbol: TRPV4_HUMAN
Name: Transient receptor potential cation channel subfamily V member 4
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 11081638
Title: Vanilloid receptor-related osmotically activated channel (VR-OAC), a candidate vertebrate osmoreceptor.
PubMed ID: 11081638
PubMed ID: 11025659
Title: OTRPC4, a nonselective cation channel that confers sensitivity to extracellular osmolarity.
PubMed ID: 11025659
DOI: 10.1038/35036318
PubMed ID: 12692122
Title: Impaired pressure sensation in mice lacking TRPV4.
PubMed ID: 12692122
PubMed ID: 16293632
Title: Human TRPV4 channel splice variants revealed a key role of ankyrin domains in multimerization and trafficking.
PubMed ID: 16293632
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 12724311
Title: Ca2+-dependent potentiation of the nonselective cation channel TRPV4 is mediated by a C-terminal calmodulin binding site.
PubMed ID: 12724311
PubMed ID: 16403833
Title: WNK kinases influence TRPV4 channel function and localization.
PubMed ID: 16403833
PubMed ID: 18826956
Title: IP3 receptor binds to and sensitizes TRPV4 channel to osmotic stimuli via a calmodulin-binding site.
PubMed ID: 18826956
PubMed ID: 18695040
Title: TRPP2 and TRPV4 form a polymodal sensory channel complex.
PubMed ID: 18695040
PubMed ID: 19759329
Title: An environmental sensor, TRPV4 is a novel regulator of intracellular Ca2+ in human synoviocytes.
PubMed ID: 19759329
PubMed ID: 19666518
Title: A loss-of-function nonsynonymous polymorphism in the osmoregulatory TRPV4 gene is associated with human hyponatremia.
PubMed ID: 19666518
PubMed ID: 22328087
Title: Megalencephalic leukoencephalopathy with subcortical cysts protein 1 functionally cooperates with the TRPV4 cation channel to activate the response of astrocytes to osmotic stress: dysregulation by pathological mutations.
PubMed ID: 22328087
DOI: 10.1093/hmg/dds032
PubMed ID: 25256292
Title: TRPV4 channel activity is modulated by direct interaction of the ankyrin domain to PI(4,5)P.
PubMed ID: 25256292
DOI: 10.1038/ncomms5994
PubMed ID: 26249260
Title: A mutation in TRPV4 results in altered chondrocyte calcium signaling in severe metatropic dysplasia.
PubMed ID: 26249260
DOI: 10.1002/ajmg.a.37182
PubMed ID: 27330106
Title: Gain-of-function mutation in TRPV4 identified in patients with osteonecrosis of the femoral head.
PubMed ID: 27330106
PubMed ID: 29899501
Title: The TRPV4 channel links calcium influx to DDX3X activity and viral infectivity.
PubMed ID: 29899501
PubMed ID: 22702953
Title: Structural and biochemical consequences of disease-causing mutations in the ankyrin repeat domain of the human TRPV4 channel.
PubMed ID: 22702953
DOI: 10.1021/bi300279b
PubMed ID: 18587396
Title: Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia.
PubMed ID: 18587396
DOI: 10.1038/ng.166
PubMed ID: 19232556
Title: Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia.
PubMed ID: 19232556
PubMed ID: 20425821
Title: Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia.
PubMed ID: 20425821
DOI: 10.1002/ajmg.a.33392
PubMed ID: 20503319
Title: Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations.
PubMed ID: 20503319
DOI: 10.1002/ajmg.a.33414
PubMed ID: 20577006
Title: Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family.
PubMed ID: 20577006
PubMed ID: 20037588
Title: Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C.
PubMed ID: 20037588
DOI: 10.1038/ng.508
PubMed ID: 20037587
Title: Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4.
PubMed ID: 20037587
DOI: 10.1038/ng.509
PubMed ID: 20037586
Title: Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C.
PubMed ID: 20037586
DOI: 10.1038/ng.512
PubMed ID: 21115951
Title: CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene.
PubMed ID: 21115951
PubMed ID: 21964574
Title: Mutations in TRPV4 cause an inherited arthropathy of hands and feet.
PubMed ID: 21964574
DOI: 10.1038/ng.945
PubMed ID: 21288981
Title: TRPV4 mutations and cytotoxic hypercalcemia in axonal Charcot-Marie-Tooth neuropathies.
PubMed ID: 21288981
PubMed ID: 22526352
Title: TRPV4 mutations in children with congenital distal spinal muscular atrophy.
PubMed ID: 22526352
Sequence Information:
- Length: 871
- Mass: 98281
- Checksum: C62056B86C5A6FB6
- Sequence:
MADSSEGPRA GPGEVAELPG DESGTPGGEA FPLSSLANLF EGEDGSLSPS PADASRPAGP GDGRPNLRMK FQGAFRKGVP NPIDLLESTL YESSVVPGPK KAPMDSLFDY GTYRHHSSDN KRWRKKIIEK QPQSPKAPAP QPPPILKVFN RPILFDIVSR GSTADLDGLL PFLLTHKKRL TDEEFREPST GKTCLPKALL NLSNGRNDTI PVLLDIAERT GNMREFINSP FRDIYYRGQT ALHIAIERRC KHYVELLVAQ GADVHAQARG RFFQPKDEGG YFYFGELPLS LAACTNQPHI VNYLTENPHK KADMRRQDSR GNTVLHALVA IADNTRENTK FVTKMYDLLL LKCARLFPDS NLEAVLNNDG LSPLMMAAKT GKIGIFQHII RREVTDEDTR HLSRKFKDWA YGPVYSSLYD LSSLDTCGEE ASVLEILVYN SKIENRHEML AVEPINELLR DKWRKFGAVS FYINVVSYLC AMVIFTLTAY YQPLEGTPPY PYRTTVDYLR LAGEVITLFT GVLFFFTNIK DLFMKKCPGV NSLFIDGSFQ LLYFIYSVLV IVSAALYLAG IEAYLAVMVF ALVLGWMNAL YFTRGLKLTG TYSIMIQKIL FKDLFRFLLV YLLFMIGYAS ALVSLLNPCA NMKVCNEDQT NCTVPTYPSC RDSETFSTFL LDLFKLTIGM GDLEMLSSTK YPVVFIILLV TYIILTFVLL LNMLIALMGE TVGQVSKESK HIWKLQWATT ILDIERSFPV FLRKAFRSGE MVTVGKSSDG TPDRRWCFRV DEVNWSHWNQ NLGIINEDPG KNETYQYYGF SHTVGRLRRD RWSSVVPRVV ELNKNSNPDE VVVPLDSMGN PRCDGHQQGY PRKWRTDDAP L
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.