Sequence in raw or FASTA format:
Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 2, mRNA.
| RefSeq Version | NM_147204.2, 294459960 |
| Length | 3012 bp |
| Structure | linear |
| Update Date | 03-APR-2011 |
| 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]. 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 | Exon (1) | 1..417 | Exon (2) | 1..417 | Exon (3) | 418..590 | Exon (4) | 591..743 | Exon (5) | 744..884 | Exon (6) | 885..1183 | Exon (7) | 1184..1342 | Exon (8) | 1343..1435 | Exon (9) | 1436..1509 | Exon (10) | 1510..1675 | Exon (11) | 1676..1742 | Exon (12) | 1743..2059 | Exon (13) | 2060..2187 | Exon (14) | 2188..2309 | Exon (15) | 2310..3001 |
| 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, a | dbSNP:56092423 |
| 86 | + | c, t | dbSNP:3742030 |
| complement(88) | - | g, a | dbSNP:112408790 |
| complement(112) | - | g, a | dbSNP:34599967 |
| complement(183) | - | g, a | dbSNP:115861965 |
| complement(427) | - | t, c | dbSNP:114101785 |
| complement(532) | - | g, a | dbSNP:77680510 |
| 701 | + | a, c | dbSNP:3825394 |
| complement(800) | - | g, c | dbSNP:56217500 |
| 820 | + | c, t | dbSNP:3742034 |
| complement(826) | - | g, a | dbSNP:1344554 |
| complement(929) | - | t, c | dbSNP:114612488 |
| complement(988) | - | t, c | dbSNP:116698155 |
| complement(1002) | - | g, a | dbSNP:111603695 |
| complement(1093) | - | g, a | dbSNP:115446386 |
| complement(1136) | - | t, c | dbSNP:114874026 |
| complement(1185) | - | t, g | dbSNP:76326037 |
| complement(1192) | - | g, a | dbSNP:57316123 |
| complement(1229) | - | g, a | dbSNP:34227547 |
| complement(1347) | - | g, a | dbSNP:115358347 |
| complement(1397) | - | t, c | dbSNP:115976458 |
| complement(1432) | - | g, a | dbSNP:114653066 |
| complement(1535) | - | t, c | dbSNP:56177950 |
| complement(1544) | - | t, c | dbSNP:11068298 |
| complement(1595) | - | g, a | dbSNP:35078611 |
| 1632 | + | a, g | dbSNP:77975504 |
| complement(1764) | - | g, a | dbSNP:35058636 |
| 1885 | + | c, t | dbSNP:3742037 |
| complement(1889) | - | t, c | dbSNP:114408421 |
| complement(1976) | - | g, a | dbSNP:116571438 |
| complement(2239) | - | g, a | dbSNP:116685089 |
| complement(2284) | - | g, c | dbSNP:34071623 |
| complement(2349) | - | t, c | dbSNP:116035946 |
| complement(2369) | - | t, c | dbSNP:55728855 |
| complement(2420) | - | t, g | dbSNP:114360402 |
| complement(2455) | - | g, a | dbSNP:111598467 |
| complement(2953) | - | g, a | dbSNP:79157363 |
| Gene Symbol | TRPV4 |
| Gene Synonym | CMT2C; HMSN2C; OTRPC4; SPSMA; SSQTL1; TRP12; VRL2; VROAC |
| Chromosome | 12 |
| Locus Map | 12q24.1 |
| All Transcripts | NM_147204 , NM_021625 , NM_001177428 , NM_001177431 , NM_001177433 |
| Title | An aquaporin-4/transient receptor potential vanilloid 4 (AQP4/TRPV4) complex is essential for cell-volume control in astrocytes . |
| Author | Benfenati,V., Caprini,M., Dovizio,M., Mylonakou,M.N., Ferroni,S., Ottersen,O.P. and Amiry-Moghaddam,M. |
| Journal | Proc. Natl. Acad. Sci. U.S.A. 108 (6), 2563-2568 (2011) |
| Title | Transient receptor potential vanilloid 4 activated inflammatory signals by intestinal epithelial cells and colitis in mice . |
| Author | D'Aldebert,E., Cenac,N., Rousset,P., Martin,L., Rolland,C., Chapman,K., Selves,J., Alric,L., Vinel,J.P. and Vergnolle,N. |
| Journal | Gastroenterology 140 (1), 275-285 (2011) |
| Title | CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene . |
| Author | Chen,D.H., Sul,Y., Weiss,M., Hillel,A., Lipe,H., Wolff,J., Matsushita,M., Raskind,W. and Bird,T. |
| Journal | Neurology 75 (22), 1968-1975 (2010) |
| Title | Arresting a transient receptor potential (TRP) channel: beta-arrestin 1 mediates ubiquitination and functional down-regulation of TRPV4 . |
| Author | Shukla,A.K., Kim,J., Ahn,S., Xiao,K., Shenoy,S.K., Liedtke,W. and Lefkowitz,R.J. |
| Journal | J. Biol. Chem. 285 (39), 30115-30125 (2010) |
| Title | Loss of function of transient receptor potential vanilloid 1 (TRPV1) genetic variant is associated with lower risk of active childhood asthma . |
| Author | Cantero-Recasens,G., Gonzalez,J.R., Fandos,C., Duran-Tauleria,E., Smit,L.A., Kauffmann,F., Anto,J.M. and Valverde,M.A. |
| Journal | J. Biol. Chem. 285 (36), 27532-27535 (2010) |
| 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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