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Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 2, mRNA.


RefSeq Accession Definition Services Price Order
NM_147204 Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 2, mRNA. ORF Sequence $706.44
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RefSeq Version NM_147204.2, 294459960
Length 3012 bp
Structure linear
Update Date 29-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 2, mRNA.
Product transient receptor potential cation channel subfamily V member 4 isoform b
Comment

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].


Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1, resulting in an isoform (b) that lacks an internal segment compared to isoform a.

RefSeq NP_671737.1
CDS 32..2467
Misc Feature(1)671..985
Misc Feature(2)671..985
Misc Feature(3)737..1180
Misc Feature(4)788..790
Misc Feature(5)1511..2005
Exon (1)1..417
Gene:TRPV4
Gene Synonym:CMT2C; HMSN2C; OTRPC4; SMAL; SPSMA; SSQTL1; TRP12; VRL2; VROAC
Exon (2)418..590
Gene:TRPV4
Gene Synonym:CMT2C; HMSN2C; OTRPC4; SMAL; SPSMA; SSQTL1; TRP12; VRL2; VROAC
Exon (3)591..743
Gene:TRPV4
Gene Synonym:CMT2C; HMSN2C; OTRPC4; SMAL; SPSMA; SSQTL1; TRP12; VRL2; VROAC
Exon (4)744..884
Gene:TRPV4
Gene Synonym:CMT2C; HMSN2C; OTRPC4; SMAL; SPSMA; SSQTL1; TRP12; VRL2; VROAC
Exon (5)885..1183
Gene:TRPV4
Gene Synonym:CMT2C; HMSN2C; OTRPC4; SMAL; SPSMA; SSQTL1; TRP12; VRL2; VROAC
Exon (6)1184..1342
Gene:TRPV4
Gene Synonym:CMT2C; HMSN2C; OTRPC4; SMAL; SPSMA; SSQTL1; TRP12; VRL2; VROAC
Exon (7)1343..1435
Gene:TRPV4
Gene Synonym:CMT2C; HMSN2C; OTRPC4; SMAL; SPSMA; SSQTL1; TRP12; VRL2; VROAC
Exon (8)1436..1509
Gene:TRPV4
Gene Synonym:CMT2C; HMSN2C; OTRPC4; SMAL; SPSMA; SSQTL1; TRP12; VRL2; VROAC
Exon (9)1510..1675
Gene:TRPV4
Gene Synonym:CMT2C; HMSN2C; OTRPC4; SMAL; SPSMA; SSQTL1; TRP12; VRL2; VROAC
Exon (10)1676..1742
Gene:TRPV4
Gene Synonym:CMT2C; HMSN2C; OTRPC4; SMAL; SPSMA; SSQTL1; TRP12; VRL2; VROAC
Exon (11)1743..2059
Gene:TRPV4
Gene Synonym:CMT2C; HMSN2C; OTRPC4; SMAL; SPSMA; SSQTL1; TRP12; VRL2; VROAC
Exon (12)2060..2187
Gene:TRPV4
Gene Synonym:CMT2C; HMSN2C; OTRPC4; SMAL; SPSMA; SSQTL1; TRP12; VRL2; VROAC
Exon (13)2188..2309
Gene:TRPV4
Gene Synonym:CMT2C; HMSN2C; OTRPC4; SMAL; SPSMA; SSQTL1; TRP12; VRL2; VROAC
Exon (14)2310..3001
Gene:TRPV4
Gene Synonym:CMT2C; HMSN2C; OTRPC4; SMAL; SPSMA; SSQTL1; TRP12; VRL2; VROAC
Translation MADSSEGPRAGPGEVAELPGDESGTPGGEAFPLSSLANLFEGEDGSLSPSPADASRPAGP GDGRPNLRMKFQGAFRKGVPNPIDLLESTLYESSVVPGPKKAPMDSLFDYGTYRHHSSDN KRWRKKIIEKQPQSPKAPAPQPPPILKVFNRPILFDIVSRGSTADLDGLLPFLLTHKKRL TDEEFREPSTGKTCLPKALLNLSNGRNDTIPVLLDIAERTGNMREFINSPFRDIYYRGQT ALHIAIERRCKHYVELLVAQGADVHAQARGRFFQPKDEGGYFYFGELPLSLAACTNQPHI VNYLTENPHKKADMRRQDSRGNTVLHALVAIADNTRENTKFVTKMYDLLLLKCARLFPDS NLEAVLNNDGLSPLMMAAKTGKIGNRHEMLAVEPINELLRDKWRKFGAVSFYINVVSYLC AMVIFTLTAYYQPLEGTPPYPYRTTVDYLRLAGEVITLFTGVLFFFTNIKDLFMKKCPGV NSLFIDGSFQLLYFIYSVLVIVSAALYLAGIEAYLAVMVFALVLGWMNALYFTRGLKLTG TYSIMIQKILFKDLFRFLLVYLLFMIGYASALVSLLNPCANMKVCNEDQTNCTVPTYPSC RDSETFSTFLLDLFKLTIGMGDLEMLSSTKYPVVFIILLVTYIILTFVLLLNMLIALMGE TVGQVSKESKHIWKLQWATTILDIERSFPVFLRKAFRSGEMVTVGKSSDGTPDRRWCFRV DEVNWSHWNQNLGIINEDPGKNETYQYYGFSHTVGRLRRDRWSSVVPRVVELNKNSNPDE VVVPLDSMGNPRCDGHQQGYPRKWRTDDAPL
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Position Chain Variation Link
complement(64)-c, adbSNP:56092423
86+c, tdbSNP:3742030
complement(88)-g, adbSNP:112408790
complement(112)-g, adbSNP:34599967
complement(133)-g, adbSNP:150332123
complement(156)-c, adbSNP:140171425
complement(168)-g, adbSNP:202066574
complement(183)-g, adbSNP:115861965
complement(233)-g, adbSNP:199624080
complement(236)-t, gdbSNP:200199102
complement(250)-g, adbSNP:201523762
complement(251)-t, cdbSNP:145726729
complement(312)-g, adbSNP:201927283
complement(348)-t, gdbSNP:141863643
complement(382)-g, adbSNP:199963499
complement(427)-dbSNP:
complement(427)-t, cdbSNP:114101785
complement(433)-t, gdbSNP:201241092
complement(436)-t, gdbSNP:144839836
complement(444)-g, adbSNP:148779865
complement(457)-t, cdbSNP:145327152
complement(458)-t, gdbSNP:201642486
complement(482)-g, adbSNP:150022362
complement(510)-t, cdbSNP:139300843
complement(526)-g, adbSNP:199748756
complement(532)-g, adbSNP:77680510
complement(554)-t, cdbSNP:146304351
complement(580)-t, cdbSNP:141908793
complement(647)-dbSNP:
complement(647)-g, adbSNP:200497189
complement(679)-g, adbSNP:201254881
complement(680)-c, adbSNP:187864727
complement(691)-g, adbSNP:139983004
complement(701)-c, adbSNP:3825394
complement(763)-dbSNP:
complement(763)-g, adbSNP:142647385
complement(769)-g, adbSNP:199816817
complement(776)-g, adbSNP:148041016
complement(791)-t, cdbSNP:143548402
complement(800)-g, cdbSNP:56217500
complement(803)-t, cdbSNP:138419280
complement(820)-t, cdbSNP:3742034
complement(826)-g, adbSNP:1344554
836+c, tdbSNP:267607146
837+a, gdbSNP:267607144
complement(841)-t, cdbSNP:147558344
863+a, gdbSNP:267607148
complement(869)-g, cdbSNP:146912080
complement(878)-t, adbSNP:200210023
complement(929)-dbSNP:
complement(929)-t, cdbSNP:114612488
complement(967)-t, cdbSNP:202084699
complement(971)-t, cdbSNP:151101009
974+c, tdbSNP:267607143
977+c, tdbSNP:267607145
complement(988)-t, cdbSNP:116698155
complement(989)-g, adbSNP:142902080
complement(994)-t, gdbSNP:148534854
complement(1002)-g, adbSNP:111603695
complement(1022)-t, adbSNP:121912636
complement(1029)-g, adbSNP:121912634
complement(1093)-g, adbSNP:115446386
complement(1094)-g, adbSNP:143604694
complement(1105)-g, adbSNP:140040335
complement(1136)-t, cdbSNP:114874026
complement(1139)-t, cdbSNP:146053143
complement(1163)-g, cdbSNP:149548366
complement(1185)-dbSNP:
complement(1185)-t, gdbSNP:76326037
complement(1187)-g, adbSNP:145900289
complement(1188)-c, adbSNP:143502097
complement(1192)-g, adbSNP:57316123
complement(1227)-c, adbSNP:201132615
complement(1229)-g, adbSNP:34227547
complement(1230)-t, cdbSNP:202244562
complement(1243)-g, adbSNP:182609216
complement(1249)-g, adbSNP:146929022
complement(1250)-t, cdbSNP:149220637
complement(1255)-g, adbSNP:138301077
complement(1272)-t, cdbSNP:150461804
complement(1273)-g, adbSNP:140533102
complement(1306)-g, adbSNP:189872222
complement(1315)-g, adbSNP:146841400
complement(1333)-t, cdbSNP:143722984
complement(1346)-dbSNP:
complement(1346)-g, adbSNP:140178345
complement(1347)-g, adbSNP:115358347
complement(1390)-g, adbSNP:141295418
complement(1397)-t, cdbSNP:115976458
complement(1432)-g, adbSNP:114653066
complement(1435)-g, adbSNP:142749412
complement(1535)-dbSNP:
complement(1535)-t, cdbSNP:56177950
complement(1544)-t, cdbSNP:11068298
complement(1547)-g, adbSNP:144583941
complement(1564)-g, cdbSNP:185933892
complement(1579)-g, adbSNP:149742074
complement(1580)-t, cdbSNP:140535889
complement(1595)-g, adbSNP:35078611
complement(1632)-g, adbSNP:77975504
1656+a, gdbSNP:267607150
complement(1698)-dbSNP:
complement(1698)-g, adbSNP:121912632
complement(1709)-g, adbSNP:121912633
complement(1736)-t, cdbSNP:200838499
complement(1764)-dbSNP:
complement(1764)-g, adbSNP:35058636
complement(1885)-t, cdbSNP:3742037
complement(1889)-t, cdbSNP:114408421
complement(1976)-g, adbSNP:116571438
complement(1997)-t, gdbSNP:121912635
complement(2008)-g, adbSNP:150719390
complement(2049)-t, cdbSNP:200757159
complement(2098)-dbSNP:
complement(2098)-g, adbSNP:141135321
complement(2099)-t, cdbSNP:148171058
complement(2121)-t, cdbSNP:143835743
complement(2140)-g, adbSNP:202036871
complement(2147)-t, gdbSNP:149000756
complement(2155)-g, cdbSNP:138986228
complement(2158)-g, adbSNP:200372627
complement(2171)-g, adbSNP:145102919
complement(2239)-dbSNP:
complement(2239)-g, adbSNP:116685089
2240+a, gdbSNP:267607149
2246+c, g, tdbSNP:267607147
2247+c, g, tdbSNP:121912637
complement(2248)-t, cdbSNP:141301107
complement(2284)-g, cdbSNP:34071623
complement(2291)-t, cdbSNP:202075458
complement(2323)-dbSNP:
complement(2323)-t, cdbSNP:149988106
complement(2335)-g, adbSNP:142656819
complement(2349)-t, cdbSNP:116035946
complement(2350)-g, adbSNP:147045782
complement(2359)-t, cdbSNP:201884175
complement(2363)-g, adbSNP:142245206
complement(2364)-g, adbSNP:140602150
complement(2369)-t, cdbSNP:55728855
complement(2391)-c, adbSNP:145184680
complement(2410)-g, adbSNP:139580010
complement(2420)-t, gdbSNP:114360402
complement(2423)-g, adbSNP:144477274
complement(2435)-g, adbSNP:149267166
complement(2455)-g, adbSNP:111598467
complement(2456)-t, cdbSNP:138396764
complement(2657)-g, adbSNP:141636597
complement(2697)-t, cdbSNP:181542514
complement(2785)-g, cdbSNP:189860067
complement(2832)-g, adbSNP:184413363
complement(2890)-t, cdbSNP:151286044
complement(2953)-g, adbSNP:79157363
Gene SymbolTRPV4
Gene SynonymCMT2C; HMSN2C; OTRPC4; SMAL; SPSMA; SSQTL1; TRP12; VRL2; VROAC
Chromosome12
Locus Map12q24.1
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_001177428 Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 5, mRNA. Full Length $1067.85
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
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
ORF Sequence $665.55
NM_021625 Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 1, mRNA. Full Length $1137.50
ORF Sequence $758.64
NM_147204 Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 2, mRNA. Full Length $1054.20
ORF Sequence $706.44
Title TRPV4 partially participates in proliferation of human brain capillary endothelial cells .
Author Hatano,N., Suzuki,H., Itoh,Y. and Muraki,K.
Journal Life Sci. 92 (4-5), 317-324 (2013)
Title Protease-activated receptor 2 (PAR2) protein and transient receptor potential vanilloid 4 (TRPV4) protein coupling is required for sustained inflammatory signaling .
Author Poole,D.P., Amadesi,S., Veldhuis,N.A., Abogadie,F.C., Lieu,T., Darby,W., Liedtke,W., Lew,M.J., McIntyre,P. and Bunnett,N.W.
Journal J. Biol. Chem. 288 (8), 5790-5802 (2013)
Title TRPV4 activation in mouse submandibular gland modulates Ca2+ influx and salivation .
Author Zhang,Y., Catalan,M.A. and Melvin,J.E.
Journal Am. J. Physiol. Gastrointest. Liver Physiol. 303 (12), G1365-G1372 (2012)
Title Comprehensive analysis of the TRPV4 gene in a large series of inherited neuropathies and controls .
Author Fawcett,K.A., Murphy,S.M., Polke,J.M., Wray,S., Burchell,V.S., Manji,H., Quinlivan,R.M., Zdebik,A.A., Reilly,M.M. and Houlden,H.
Journal J. Neurol. Neurosurg. Psychiatr. 83 (12), 1204-1209 (2012)
Title Functional expression of TRPV4 channels in human collecting duct cells: implications for secondary hypertension in diabetic nephropathy .
Author Hills,C.E., Bland,R. and Squires,P.E.
Journal Exp Diabetes Res 2012, 936518 (2012)
Title Trp12, a novel Trp related protein from kidney .
Author Wissenbach,U., Bodding,M., Freichel,M. and Flockerzi,V.
Journal FEBS Lett. 485 (2-3), 127-134 (2000)
Title Vanilloid receptor-related osmotically activated channel (VR-OAC), a candidate vertebrate osmoreceptor .
Author Liedtke,W., Choe,Y., Marti-Renom,M.A., Bell,A.M., Denis,C.S., Sali,A., Hudspeth,A.J., Friedman,J.M. and Heller,S.
Journal Cell 103 (3), 525-535 (2000)
Title OTRPC4, a nonselective cation channel that confers sensitivity to extracellular osmolarity .
Author Strotmann,R., Harteneck,C., Nunnenmacher,K., Schultz,G. and Plant,T.D.
Journal Nat. Cell Biol. 2 (10), 695-702 (2000)
Title From worm to man: three subfamilies of TRP channels .
Author Harteneck,C., Plant,T.D. and Schultz,G.
Journal Trends Neurosci. 23 (4), 159-166 (2000)
Title Varying occurrence of vocal cord paralysis in a family with autosomal dominant hereditary motor and sensory neuropathy .
Author Donaghy,M. and Kennett,R.
Journal J. Neurol. 246 (7), 552-555 (1999)

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