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Results for the Protein: Q9HBA0
62901470

TRPV4_HUMAN RecName: Full=Transient receptor potential cation channel subfamily V member 4; Short=TrpV4; AltName: Full=Osm-9-like TRP channel 4; Short=OTRPC4; AltName: Full=Transient receptor potential protein 12; Short=TRP12; AltName: Full=Vanilloid receptor-like channel 2; AltName: Full=Vanilloid receptor-like protein 2; Short=VRL-2; AltName: Full=Vanilloid receptor-related osmotically-activated channel; Short=VR-OAC

Known Diseases associated with this Protein:
  BRACHYOLMIA 3 (BRAC3)
  BRACHYOLMIA TYPE 3
  CHARCOT-MARIE-TOOTH DISEASE 2C (CMT2C)
  DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL
  DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL (FDAB)
  DISTAL SPINAL MUSCULAR ATROPHY, CONGENITAL NON-PROGRESSIVE (DSMAC)
  HEREDIT
  HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC
  HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, INCLUDED
  METATROPIC DYSP
  METATROPIC DYSPLASIA
  METATROPIC DYSPLASIA (MTD)
  PARASTREMMATIC DWARFISM, INCLUDED
  SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY (SPSMA)
  SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, INCLUDED
  SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, INCLUDED;;
  SODIUM SERUM LEVEL QUANTITATIVE TRAIT LOCUS 1
  SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE
  SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, INCLUDED
  SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, INCLUDED;
  SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE
  SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE, INCLUDED
  SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE, INCLUDED;;
  SPONDYLOMETAPHYSEAL DYSPLASIA KOZLOWSKI TYPE (SMDK)
  SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE
70
3
31
1
41
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