Transient Receptor Potential Cation Channel, Subfamily V, Member 4

Alternative Names

  • TRPV4
  • Vanilloid Receptor-Related Osmotically Activated Channel
  • VROAC
  • OSM9-Like Transient Receptor Potential Channel 4
  • Otrpc4
  • Transient Receptor Potential Channel 12
  • TRP12
  • Transient Receptor Potential, Drosophila, Homolog of, 12
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OMIM Number

605427

NCBI Gene ID

59341

Uniprot ID

Q9HBA0

Length

50,312 bases

No. of Exons

19

No. of isoforms

6

Protein Name

Transient receptor potential cation channel subfamily V member 4

Molecular Mass

98281 Da

Amino Acid Count

871

Genomic Location

chr12:109,783,086-109,833,397

Gene Map Locus
12q24.11

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_021625.5:c.2396C>TLebanonNC_000012.12:g.109784378G>APathogenicLikely PathogenicSpondyloepimetaphyseal Dysplasia, Maroteaux TypeNG_017090.1:g.54030C>T; NM_021625.5:c.2396C>T; NP_671737.1:p.Pro739Arg1219126374998
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