TRPV4 transient receptor potential cation channel, subfamily V, member 4 [Homo sapiens (human)]

Gene Symbol	TRPV4
Entrez Gene ID	59341
Full Name	transient receptor potential cation channel, subfamily V, member 4
Synonyms	CMT2C, HMSN2C, OTRPC4, SPSMA, SSQTL1, TRP12, VRL2, VROAC
Gene Type	protein-coding
Organism	Homo sapiens (human)
Genome	Chromosome:12 Map Location:12q24.1
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].
Disorder	MIM: 605427 Brachyolmia type 3, 113500 (3); Spondylometaphyseal dysplasia,

mRNA	NM_147204, 294459960
Protein	NP_671737, 22547180
Product	transient receptor potential cation channel subfamily V member 4 isoform b
RefSeq Status	REVIEWED
mRNA	NM_021625, 294459961
Protein	NP_067638, 22547184
Product	transient receptor potential cation channel subfamily V member 4 isoform a
RefSeq Status	REVIEWED
mRNA	NM_001177428, 294459964
Protein	NP_001170899, 294459965
Product	transient receptor potential cation channel subfamily V member 4 isoform e
RefSeq Status	REVIEWED
mRNA	NM_001177431, 294459970
Protein	NP_001170902, 294459971
Product	transient receptor potential cation channel subfamily V member 4 isoform d
RefSeq Status	REVIEWED
mRNA	NM_001177433, 294459976
Protein	NP_001170904, 294459977
Product	transient receptor potential cation channel subfamily V member 4 isoform c
RefSeq Status	REVIEWED

Homo sapiens (human)	TRPV4	NP_067638.3
Canis lupus familiaris (dog)	TRPV4	XP_543434.2
Bos taurus (cattle)	TRPV4	XP_001253150.1
Mus musculus (house mouse)	Trpv4	NP_071300.1
Rattus norvegicus (Norway rat)	Trpv4	NP_076460.1
Gallus gallus (chicken)	TRPV4	NP_990023.1
Danio rerio (zebrafish)	trpv4	NP_001036195.1

Process

ID	Name	Evidence
GO:0006811	ion transport	IEA
GO:0006816	calcium ion transport	IDA
GO:0006816	calcium ion transport	NAS
GO:0006874	cellular calcium ion homeostasis	IDA
GO:0006884	cell volume homeostasis	TAS
GO:0007015	actin filament organization	ISS
GO:0007043	cell-cell junction assembly	ISS
GO:0007204	elevation of cytosolic calcium ion concentration	IDA
GO:0007231	osmosensory signaling pathway	ISS
GO:0007231	osmosensory signaling pathway	TAS
GO:0008219	cell death	IEA
GO:0009612	response to mechanical stimulus	TAS
GO:0010977	negative regulation of neuron projection development	ISS
GO:0031117	positive regulation of microtubule depolymerization	ISS
GO:0031532	actin cytoskeleton reorganization	ISS
GO:0043622	cortical microtubule organization	ISS
GO:0046785	microtubule polymerization	ISS
GO:0055085	transmembrane transport	IEA
GO:0070509	calcium ion import	ISS
GO:0070588	calcium ion transmembrane transport	IDA
GO:0071476	cellular hypotonic response	ISS

Component

ID	Name	Evidence
GO:0005881	cytoplasmic microtubule	ISS
GO:0005886	plasma membrane	IDA
GO:0005886	plasma membrane	ISS
GO:0005912	adherens junction	ISS
GO:0005925	focal adhesion	ISS
GO:0016021	integral to membrane	NAS
GO:0030027	lamellipodium	ISS
GO:0030054	cell junction	IEA
GO:0030175	filopodium	ISS
GO:0030426	growth cone	ISS
GO:0030864	cortical actin cytoskeleton	ISS
GO:0032587	ruffle membrane	ISS

Function

RefSeq Accession	Definition	Sequence	Price	Select
NM_147204	Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 2, mRNA.	Full Length	$1054.20
NM_147204		ORF Sequence	$706.44
NM_021625	Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 1, mRNA.	Full Length	$1137.50
NM_021625		ORF Sequence	$758.64
NM_001177428	Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 5, mRNA.	Full Length	$1067.85
NM_001177428		ORF Sequence	$717.75
NM_001177431	Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 4, mRNA.	Full Length	$1070.65
NM_001177431		ORF Sequence	$729.06
NM_001177433	Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 3, mRNA.	Full Length	$832.59
NM_001177433		ORF Sequence	$665.55

Sequence in raw or FASTA format: