TRPV4

GENE INFORMATION

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Gene name

TRPV4 (HGNC Symbol)

Synonyms

CMT2C, OTRPC4, TRP12, VR-OAC, VRL-2, VROAC

Description

transient receptor potential cation channel, subfamily V, member 4 (HGNC Symbol)

Entrez gene summary

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]

Chromosome

12 (Chromosome progress)

Cytoband

q24.11

Chromosome location (bp)

110220890 - 110271212

Ensembl

ENSG00000111199 (version 73.37)

Entrez gene

59341

UniProt

Q9HBA0 (UniProt - Evidence at protein level)

neXtProt

NX_Q9HBA0

Antibodypedia

TRPV4 antibodies
 

PROTEIN VIEW

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TRPV4-001
 
TRPV4-002
 
TRPV4-003
 
TRPV4-004
 
TRPV4-005
 
TRPV4-006
 
TRPV4-007
 
TRPV4-201
 
TRPV4-202
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

TRPV4-001 ENSP00000261740
ENST00000261740
Q9HBA0
Show all »
Show » Show » 871 98.3 No 6
TRPV4-002 ENSP00000443611
ENST00000544971
Q9HBA0
Show all »
Show » Show » 764 85.9 No 6
TRPV4-003 ENSP00000442738
ENST00000537083
Q9HBA0
Show all »
Show » Show » 811 91.3 No 6
TRPV4-004 ENSP00000442167
ENST00000541794
Q9HBA0
Show all »
Show » Show » 824 92.9 No 6
TRPV4-005 ENSP00000444336
ENST00000536838
Q9HBA0
Show all »
Show » Show » 837 95 No 6
TRPV4-006 ENSP00000406191
ENST00000418703
Q9HBA0
Show all »
Show » Show » 871 98.3 No 6
TRPV4-007 ENSP00000437449
ENST00000538125
F5H6Q4
Show all »
Show » Show » 552 61.8 No 2
TRPV4-201 ENSP00000319003
ENST00000346520
Q9HBA0
Show all »
Show » Show » 811 91.3 No 6
TRPV4-202 ENSP00000376480
ENST00000392719
Q9HBA0
Show all »
Show » Show » 824 92.9 No 6