TRPV4 - Gene info - The Human Protein Atlas

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

Cytoband

q24.11

Chromosome location (bp)

109783085 - 109833401

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000111199 (version 78.38)

Entrez gene

59341

UniProt

Q9HBA0 (UniProt - Evidence at protein level)

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

TRPV4-001

ENSP00000261740
ENST00000261740

Q9HBA0
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Q9HBA0 [Direct mapping]
Transient receptor potential cation channel subfamily V member 4
F5H6Q4 [Target identity:63%; Query identity:100%]
Transient receptor potential cation channel subfamily V member 4 {ECO:0000313|Ensembl:ENSP00000437449}

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Voltage-gated ion channels
   Transient Receptor Potential Channels
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   6TM proteins predicted by MDM
Disease related genes
Potential drug targets
Protein evidence (Ezkurdia et al 2014)

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GO:0003779 [actin binding]
GO:0005080 [protein kinase C binding]
GO:0005216 [ion channel activity]
GO:0005261 [cation channel activity]
GO:0005262 [calcium channel activity]
GO:0005515 [protein binding]
GO:0005516 [calmodulin binding]
GO:0005524 [ATP binding]
GO:0005881 [cytoplasmic microtubule]
GO:0005886 [plasma membrane]
GO:0005912 [adherens junction]
GO:0005925 [focal adhesion]
GO:0006811 [ion transport]
GO:0006816 [calcium ion transport]
GO:0006874 [cellular calcium ion homeostasis]
GO:0006884 [cell volume homeostasis]
GO:0007015 [actin filament organization]
GO:0007043 [cell-cell junction assembly]
GO:0007204 [positive regulation of cytosolic calcium ion concentration]
GO:0007231 [osmosensory signaling pathway]
GO:0008017 [microtubule binding]
GO:0008219 [cell death]
GO:0009612 [response to mechanical stimulus]
GO:0010977 [negative regulation of neuron projection development]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0019901 [protein kinase binding]
GO:0030027 [lamellipodium]
GO:0030175 [filopodium]
GO:0030426 [growth cone]
GO:0030864 [cortical actin cytoskeleton]
GO:0031117 [positive regulation of microtubule depolymerization]
GO:0031532 [actin cytoskeleton reorganization]
GO:0032587 [ruffle membrane]
GO:0034220 [ion transmembrane transport]
GO:0034605 [cellular response to heat]
GO:0042169 [SH2 domain binding]
GO:0043014 [alpha-tubulin binding]
GO:0043622 [cortical microtubule organization]
GO:0046785 [microtubule polymerization]
GO:0048487 [beta-tubulin binding]
GO:0051015 [actin filament binding]
GO:0055085 [transmembrane transport]
GO:0070509 [calcium ion import]
GO:0070588 [calcium ion transmembrane transport]
GO:0071470 [cellular response to osmotic stress]
GO:0071476 [cellular hypotonic response]

871

98.3

TRPV4-002

ENSP00000443611
ENST00000544971

Q9HBA0
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Q9HBA0 [Direct mapping]
Transient receptor potential cation channel subfamily V member 4

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GO:0003779 [actin binding]
GO:0005080 [protein kinase C binding]
GO:0005216 [ion channel activity]
GO:0005261 [cation channel activity]
GO:0005262 [calcium channel activity]
GO:0005516 [calmodulin binding]
GO:0005524 [ATP binding]
GO:0005881 [cytoplasmic microtubule]
GO:0005886 [plasma membrane]
GO:0005912 [adherens junction]
GO:0005925 [focal adhesion]
GO:0006811 [ion transport]
GO:0006816 [calcium ion transport]
GO:0006874 [cellular calcium ion homeostasis]
GO:0006884 [cell volume homeostasis]
GO:0007015 [actin filament organization]
GO:0007043 [cell-cell junction assembly]
GO:0007204 [positive regulation of cytosolic calcium ion concentration]
GO:0007231 [osmosensory signaling pathway]
GO:0008017 [microtubule binding]
GO:0008219 [cell death]
GO:0009612 [response to mechanical stimulus]
GO:0010977 [negative regulation of neuron projection development]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0019901 [protein kinase binding]
GO:0030027 [lamellipodium]
GO:0030175 [filopodium]
GO:0030426 [growth cone]
GO:0030864 [cortical actin cytoskeleton]
GO:0031117 [positive regulation of microtubule depolymerization]
GO:0031532 [actin cytoskeleton reorganization]
GO:0032587 [ruffle membrane]
GO:0034220 [ion transmembrane transport]
GO:0034605 [cellular response to heat]
GO:0042169 [SH2 domain binding]
GO:0043014 [alpha-tubulin binding]
GO:0043622 [cortical microtubule organization]
GO:0046785 [microtubule polymerization]
GO:0048487 [beta-tubulin binding]
GO:0051015 [actin filament binding]
GO:0055085 [transmembrane transport]
GO:0070509 [calcium ion import]
GO:0070588 [calcium ion transmembrane transport]
GO:0071470 [cellular response to osmotic stress]
GO:0071476 [cellular hypotonic response]

764

85.9

TRPV4-003

ENSP00000442738
ENST00000537083

Q9HBA0
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Q9HBA0 [Direct mapping]
Transient receptor potential cation channel subfamily V member 4

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811

91.3

TRPV4-004

ENSP00000442167
ENST00000541794

Q9HBA0
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Q9HBA0 [Direct mapping]
Transient receptor potential cation channel subfamily V member 4

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824

92.9

TRPV4-005

ENSP00000444336
ENST00000536838

Q9HBA0
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Q9HBA0 [Direct mapping]
Transient receptor potential cation channel subfamily V member 4

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837

TRPV4-006

ENSP00000406191
ENST00000418703

Q9HBA0
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GO:0003779 [actin binding]
GO:0005034 [osmosensor activity]
GO:0005080 [protein kinase C binding]
GO:0005216 [ion channel activity]
GO:0005261 [cation channel activity]
GO:0005262 [calcium channel activity]
GO:0005515 [protein binding]
GO:0005516 [calmodulin binding]
GO:0005524 [ATP binding]
GO:0005881 [cytoplasmic microtubule]
GO:0005886 [plasma membrane]
GO:0005912 [adherens junction]
GO:0005925 [focal adhesion]
GO:0005929 [cilium]
GO:0006811 [ion transport]
GO:0006816 [calcium ion transport]
GO:0006874 [cellular calcium ion homeostasis]
GO:0006884 [cell volume homeostasis]
GO:0006970 [response to osmotic stress]
GO:0006971 [hypotonic response]
GO:0007015 [actin filament organization]
GO:0007043 [cell-cell junction assembly]
GO:0007204 [positive regulation of cytosolic calcium ion concentration]
GO:0007231 [osmosensory signaling pathway]
GO:0008017 [microtubule binding]
GO:0008219 [cell death]
GO:0009612 [response to mechanical stimulus]
GO:0009986 [cell surface]
GO:0010977 [negative regulation of neuron projection development]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0019901 [protein kinase binding]
GO:0030027 [lamellipodium]
GO:0030103 [vasopressin secretion]
GO:0030175 [filopodium]
GO:0030426 [growth cone]
GO:0030864 [cortical actin cytoskeleton]
GO:0031117 [positive regulation of microtubule depolymerization]
GO:0031410 [cytoplasmic vesicle]
GO:0031532 [actin cytoskeleton reorganization]
GO:0032587 [ruffle membrane]
GO:0034220 [ion transmembrane transport]
GO:0034605 [cellular response to heat]
GO:0042169 [SH2 domain binding]
GO:0042538 [hyperosmotic salinity response]
GO:0043014 [alpha-tubulin binding]
GO:0043622 [cortical microtubule organization]
GO:0046785 [microtubule polymerization]
GO:0047484 [regulation of response to osmotic stress]
GO:0048487 [beta-tubulin binding]
GO:0051015 [actin filament binding]
GO:0055085 [transmembrane transport]
GO:0070509 [calcium ion import]
GO:0070588 [calcium ion transmembrane transport]
GO:0071470 [cellular response to osmotic stress]
GO:0071476 [cellular hypotonic response]

871

98.3

The Human Protein Atlas project is funded by the Knut & Alice Wallenberg foundation.