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


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_147204 Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $899.00 20

*Business Day

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RefSeq Version NM_147204.2, 294459960
Length 3012 bp
Structure linear
Update Date 10-MAY-2014
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)743..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(59)-g, cdbSNP:376436045
complement(64)-c, adbSNP:56092423
86+c, tdbSNP:3742030
complement(88)-g, adbSNP:112408790
complement(112)-g, adbSNP:34599967
complement(156)-c, adbSNP:140171425
complement(168)-g, adbSNP:202066574
complement(183)-g, adbSNP:115861965
complement(203)-c, adbSNP:372512360
complement(221)-g, adbSNP:372452565
complement(233)-g, adbSNP:199624080
complement(236)-t, gdbSNP:200199102
complement(250)-g, adbSNP:201523762
complement(251)-t, cdbSNP:145726729
263+g, tdbSNP:397514474
297+c, tdbSNP:397514473
complement(312)-g, adbSNP:201927283
complement(331)-t, cdbSNP:370135765
complement(348)-t, gdbSNP:141863643
complement(382)-g, adbSNP:199963499
complement(412)-g, adbSNP:367838389
complement(427)-dbSNP:
complement(427)-t, cdbSNP:114101785
complement(430)-t, cdbSNP:373288427
complement(433)-t, gdbSNP:201241092
complement(436)-t, gdbSNP:144839836
complement(444)-g, adbSNP:148779865
complement(445)-t, adbSNP:376898641
complement(457)-t, cdbSNP:145327152
complement(458)-t, gdbSNP:201642486
complement(482)-g, adbSNP:150022362
complement(502)-g, adbSNP:368606075
complement(510)-t, cdbSNP:139300843
complement(526)-g, adbSNP:199748756
complement(532)-g, adbSNP:77680510
complement(554)-t, cdbSNP:146304351
complement(555)-t, gdbSNP:372907955
578+a, gdbSNP:387906324
complement(580)-t, cdbSNP:141908793
588+a, gdbSNP:397514494
621+dbSNP:
621+a, gdbSNP:387906903
complement(646)-t, gdbSNP:377729962
complement(647)-g, adbSNP:200497189
complement(648)-c, adbSNP:373108373
complement(655)-g, adbSNP:372000524
complement(679)-g, adbSNP:201254881
complement(680)-c, adbSNP:187864727
complement(682)-t, cdbSNP:371280831
complement(691)-g, adbSNP:139983004
complement(692)-t, cdbSNP:373539744
701+a, cdbSNP:3825394
complement(717)-g, adbSNP:373980330
725+c, tdbSNP:387906904
complement(763)-dbSNP:
complement(763)-g, adbSNP:142647385
complement(769)-g, adbSNP:199816817
complement(773)-g, adbSNP:370289434
complement(776)-g, adbSNP:148041016
complement(790)-g, adbSNP:370318363
complement(791)-t, g, cdbSNP:143548402
complement(800)-g, cdbSNP:56217500
complement(803)-t, cdbSNP:138419280
820+c, tdbSNP:3742034
complement(826)-g, adbSNP:1344554
836+c, tdbSNP:267607146
837+a, gdbSNP:267607144
840+g, tdbSNP:387907220
complement(841)-t, cdbSNP:147558344
843+c, gdbSNP:387907219
857+a, gdbSNP:387906907
863+a, gdbSNP:267607148
complement(878)-t, adbSNP:200210023
complement(900)-dbSNP:
complement(900)-g, adbSNP:368937671
complement(929)-t, cdbSNP:114612488
complement(967)-t, cdbSNP:202084699
complement(971)-t, cdbSNP:151101009
974+c, tdbSNP:267607143
977+c, tdbSNP:267607145
978+a, gdbSNP:387906905
complement(987)-g, adbSNP:377518118
complement(988)-t, cdbSNP:116698155
complement(989)-g, adbSNP:142902080
complement(994)-t, gdbSNP:148534854
complement(1002)-g, adbSNP:111603695
complement(1012)-t, cdbSNP:369752825
1022+a, g, tdbSNP:121912636
1029+a, gdbSNP:121912634
complement(1066)-t, cdbSNP:372460171
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(1147)-t, cdbSNP:369811541
complement(1163)-g, cdbSNP:149548366
complement(1165)-g, adbSNP:375468689
complement(1177)-t, cdbSNP:267603301
complement(1185)-dbSNP:
complement(1185)-t, gdbSNP:76326037
complement(1187)-g, adbSNP:145900289
complement(1188)-c, adbSNP:143502097
complement(1192)-g, adbSNP:57316123
complement(1193)-t, cdbSNP:373103155
complement(1227)-c, adbSNP:201132615
complement(1229)-g, adbSNP:34227547
complement(1230)-t, cdbSNP:202244562
complement(1241)-g, adbSNP:373049874
complement(1243)-g, adbSNP:182609216
complement(1249)-g, adbSNP:146929022
complement(1250)-t, cdbSNP:149220637
complement(1255)-g, adbSNP:138301077
complement(1256)-t, cdbSNP:369637458
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(1365)-g, adbSNP:375574238
complement(1390)-g, adbSNP:141295418
complement(1397)-t, cdbSNP:115976458
complement(1405)-g, adbSNP:374644279
complement(1432)-g, adbSNP:114653066
complement(1435)-g, adbSNP:142749412
1476+dbSNP:
1476+a, cdbSNP:387906902
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(1585)-t, cdbSNP:367909954
complement(1595)-g, adbSNP:35078611
complement(1627)-g, adbSNP:370454737
1632+a, gdbSNP:77975504
1656+a, gdbSNP:267607150
1698+dbSNP:
1698+a, gdbSNP:121912632
1709+a, gdbSNP:121912633
complement(1735)-g, adbSNP:369752162
complement(1736)-t, cdbSNP:200838499
complement(1764)-dbSNP:
complement(1764)-g, adbSNP:35058636
complement(1765)-t, cdbSNP:372476984
complement(1833)-t, cdbSNP:368448939
1885+c, tdbSNP:3742037
complement(1889)-t, cdbSNP:114408421
complement(1894)-g, adbSNP:375633647
complement(1939)-g, adbSNP:367846257
complement(1957)-g, adbSNP:373961067
complement(1976)-g, adbSNP:116571438
1997+g, tdbSNP:121912635
complement(2008)-g, adbSNP:150719390
complement(2049)-t, cdbSNP:200757159
2070+dbSNP:
2070+c, tdbSNP:387906906
complement(2087)-g, adbSNP:375189134
complement(2098)-g, adbSNP:141135321
complement(2099)-t, cdbSNP:148171058
complement(2121)-t, cdbSNP:143835743
complement(2140)-g, adbSNP:202036871
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(2276)-t, cdbSNP:375851168
complement(2284)-g, cdbSNP:34071623
complement(2291)-t, cdbSNP:202075458
complement(2323)-dbSNP:
complement(2323)-t, cdbSNP:149988106
complement(2335)-g, adbSNP:142656819
complement(2345)-t, gdbSNP:377399452
complement(2347)-g, cdbSNP:374298483
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(2405)-g, adbSNP:372583866
complement(2410)-g, adbSNP:139580010
complement(2411)-t, cdbSNP:368963822
complement(2420)-t, gdbSNP:114360402
complement(2423)-g, adbSNP:144477274
complement(2431)-g, adbSNP:377521721
complement(2435)-g, adbSNP:149267166
complement(2436)-t, cdbSNP:371989034
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
2890+c, tdbSNP:151286044
complement(2953)-g, adbSNP:79157363
complement(2968)-t, cdbSNP:372889043
Gene SymbolTRPV4
Gene SynonymCMT2C; HMSN2C; OTRPC4; SMAL; SPSMA; SSQTL1; TRP12; VRL2; VROAC
Chromosome12
Locus Map12q24.1
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_021625 Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 1, mRNA. On-demand $899.00 20
NM_001177428 Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 5, mRNA. On-demand $899.00 20
NM_147204 Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 2, mRNA. On-demand $899.00 20
NM_001177431 Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 4, mRNA. On-demand $899.00 20
NM_001177433 Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 3, mRNA. On-demand $849.00 20
XM_005253918 PREDICTED: Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant X1, mRNA. On-demand $899.00 20
XM_005253919 PREDICTED: Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant X2, mRNA. On-demand $899.00 20
Title The potential role of transient receptor potential type A1 as a mechanoreceptor in human periodontal ligament cells .
Author Tsutsumi T, Kajiya H, Fukawa T, Sasaki M, Nemoto T, Tsuzuki T, Takahashi Y, Fujii S, Maeda H and Okabe K.
Journal Eur. J. Oral Sci. 121 (6), 538-544 (2013)
Title Activation of TRPV4 channel in pancreatic INS-1E beta cells enhances glucose-stimulated insulin secretion via calcium-dependent mechanisms .
Author Skrzypski M, Kakkassery M, Mergler S, Grotzinger C, Khajavi N, Sassek M, Szczepankiewicz D, Wiedenmann B, Nowak KW and Strowski MZ.
Journal FEBS Lett. 587 (19), 3281-3287 (2013)
Title Lysophosphatidylcholine-induced cytotoxicity in osteoblast-like MG-63 cells: involvement of transient receptor potential vanilloid 2 (TRPV2) channels .
Author Fallah A, Pierre R, Abed E and Moreau R.
Journal Mol. Membr. Biol. 30 (5-6), 315-326 (2013)
Title Phosphatidylinositol-4,5-biphosphate-dependent rearrangement of TRPV4 cytosolic tails enables channel activation by physiological stimuli .
Author Garcia-Elias A, Mrkonjic S, Pardo-Pastor C, Inada H, Hellmich UA, Rubio-Moscardo F, Plata C, Gaudet R, Vicente R and Valverde MA.
Journal Proc. Natl. Acad. Sci. U.S.A. 110 (23), 9553-9558 (2013)
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 Vanilloid receptor-related osmotically activated channel (VR-OAC), a candidate vertebrate osmoreceptor .
Author Liedtke W, Choe Y, Marti-Renom MA, Bell AM, Denis CS, Sali A, Hudspeth AJ, Friedman JM 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 TD.
Journal Nat. Cell Biol. 2 (10), 695-702 (2000)
Title From worm to man: three subfamilies of TRP channels .
Author Harteneck C, Plant TD 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)
Title Charcot-Marie-Tooth Neuropathy Type 2 .
Author Bird,T.D.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)

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