Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA.
| RefSeq Version | NM_004621.5, 170014741 |
| Length | 4612 bp |
| Structure | linear |
| Update Date | 09-APR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA. |
| Product | short transient receptor potential channel 6 |
| Comment | Summary: The protein encoded by this gene forms a receptor-activated calcium channel in the cell membrane. The channel is activated by diacylglycerol and is thought to be under the control of a phosphatidylinositol second messenger system. Activation of this channel occurs independently of protein kinase C and is not triggered by low levels of intracellular calcium. Defects in this gene are a cause of focal segmental glomerulosclerosis 2 (FSGS2). [provided by RefSeq]. |
| RefSeq | NP_004612.2 |
| CDS | 426..3221 | Exon (1) | 1..595 | Exon (2) | 1..595 | Exon (3) | 596..1370 | Exon (4) | 1371..1553 | Exon (5) | 1554..1718 | Exon (6) | 1719..1935 | Exon (7) | 1936..2169 | Exon (8) | 2170..2434 | Exon (9) | 2435..2630 | Exon (10) | 2631..2834 | Exon (11) | 2835..2909 | Exon (12) | 2910..2993 | Exon (13) | 2994..3069 | Exon (14) | 3070..4612 |
| Translation | MSQSPAFGPRRGSSPRGAAGAAARRNESQDYLLMDSELGEDGCPQAPLPCYGYYPCFRGS
DNRLAHRRQTVLREKGRRLANRGPAYMFSDRSTSLSIEEERFLDAAEYGNIPVVRKMLEE
CHSLNVNCVDYMGQNALQLAVANEHLEITELLLKKENLSRVGDALLLAISKGYVRIVEAI
LSHPAFAEGKRLATSPSQSELQQDDFYAYDEDGTRFSHDVTPIILAAHCQEYEIVHTLLR
KGARIERPHDYFCKCNDCNQKQKHDSFSHSRSRINAYKGLASPAYLSLSSEDPVMTALEL
SNELAVLANIEKEFKNDYKKLSMQCKDFVVGLLDLCRNTEEVEAILNGDVETLQSGDHGR
PNLSRLKLAIKYEVKKFVAHPNCQQQLLSIWYENLSGLRQQTMAVKFLVVLAVAIGLPFL
ALIYWFAPCSKMGKIMRGPFMKFVAHAASFTIFLGLLVMNAADRFEGTKLLPNETSTDNA
KQLFRMKTSCFSWMEMLIISWVIGMIWAECKEIWTQGPKEYLFELWNMLDFGMLAIFAAS
FIARFMAFWHASKAQSIIDANDTLKDLTKVTLGDNVKYYNLARIKWDPSDPQIISEGLYA
IAVVLSFSRIAYILPANESFGPLQISLGRTVKDIFKFMVIFIMVFVAFMIGMFNLYSYYI
GAKQNEAFTTVEESFKTLFWAIFGLSEVKSVVINYNHKFIENIGYVLYGVYNVTMVIVLL
NMLIAMINSSFQEIEDDADVEWKFARAKLWFSYFEEGRTLPVPFNLVPSPKSLFYLLLKL
KKWISELFQGHKKGFQEDAEMNKINEEKKLGILGSHEDLSKLSLDKKQVGHNKQPSIRSS
EDFHLNSFNNPPRQYQKIMKRLIKRYVLQAQIDKESDEVNEGELKEIKQDISSLRYELLE
EKSQNTEDLAELIRELGEKLSMEPNQEETNR
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| Position | Chain | Variation | Link |
| complement(2) | - | g, c | dbSNP:17096920 |
| complement(65) | - | t, a | dbSNP:41302375 |
| complement(172) | - | g, c | dbSNP:3824934 |
| complement(208) | - | g, a | dbSNP:56134796 |
| complement(394..474) | - | , largedeletion | dbSNP:71975442 |
| complement(468) | - | g, a | dbSNP:3802829 |
| complement(597) | - | g, a | dbSNP:117273916 |
| complement(701) | - | t, g | dbSNP:77584900 |
| complement(703) | - | t, g | dbSNP:74593029 |
| 760 | + | a, c | dbSNP:121434390 |
| 853 | + | a, g | dbSNP:121434391 |
| complement(895) | - | t, g | dbSNP:35857503 |
| 1233 | + | a, t | dbSNP:121434392 |
| complement(1636) | - | g, a | dbSNP:36111323 |
| complement(1639) | - | c, a | dbSNP:76206265 |
| complement(1724..1725) | - | , c | dbSNP:35722942 |
| complement(1763) | - | g, a | dbSNP:112258968 |
| complement(2108) | - | g, a | dbSNP:12366144 |
| complement(2313) | - | t, g | dbSNP:61745699 |
| complement(2316) | - | t, c | dbSNP:117462052 |
| complement(2513) | - | g, a | dbSNP:61739601 |
| complement(2540) | - | g, a | dbSNP:61743044 |
| complement(2878) | - | t, g | dbSNP:61732606 |
| complement(2954) | - | g, a | dbSNP:72984209 |
| complement(2969) | - | g, a | dbSNP:61890853 |
| complement(3001) | - | t, a | dbSNP:112206284 |
| 3045 | + | a, t | dbSNP:121434393 |
| 3108 | + | c, t | dbSNP:121434394 |
| 3114 | + | a, g | dbSNP:121434395 |
| complement(3137) | - | t, c | dbSNP:12805398 |
| complement(3584) | - | g, c | dbSNP:77869343 |
| complement(3585) | - | t, g | dbSNP:76289527 |
| complement(3751) | - | g, a | dbSNP:112916171 |
| complement(3774) | - | c, a | dbSNP:7931399 |
| complement(3788) | - | t, a | dbSNP:77809937 |
| complement(3881..3888) | - | , gcacacac | dbSNP:61621225 |
| complement(3885..3892) | - | , acacgcac | dbSNP:72255315 |
| complement(3928..3929) | - | , aata | dbSNP:34445672 |
| complement(3929..3930) | - | , aata | dbSNP:10634011 |
| complement(3930..3931) | - | , taaa | dbSNP:71784172 |
| complement(3932) | - | c, a | dbSNP:75785415 |
| complement(4266) | - | c, a | dbSNP:116690727 |
| complement(4310) | - | g, a | dbSNP:117895343 |
| Gene Symbol | TRPC6 |
| Gene Synonym | FLJ11098; FLJ14863; FSGS2; TRP6 |
| Chromosome | 11 |
| Locus Map | 11q22.1 |
| All Transcripts | NM_004621 |
| Title | Protein kinase C-dependent phosphorylation of transient receptor potential canonical 6 (TRPC6) on serine 448 causes channel inhibition . |
| Author | Bousquet,S.M., Monet,M. and Boulay,G. |
| Journal | J. Biol. Chem. 285 (52), 40534-40543 (2010) |
| Title | The role of TRPC6 in HGF-induced cell proliferation of human prostate cancer DU145 and PC3 cells . |
| Author | Wang,Y., Yue,D., Li,K., Liu,Y.L., Ren,C.S. and Wang,P. |
| Journal | Asian J. Androl. 12 (6), 841-852 (2010) |
| Title | A new role for PTEN in regulating transient receptor potential canonical channel 6-mediated Ca2+ entry, endothelial permeability, and angiogenesis . |
| Author | Kini,V., Chavez,A. and Mehta,D. |
| Journal | J. Biol. Chem. 285 (43), 33082-33091 (2010) |
| Title | Essential role of TRPC6 channels in G2/M phase transition and development of human glioma . |
| Author | Ding,X., He,Z., Zhou,K., Cheng,J., Yao,H., Lu,D., Cai,R., Jin,Y., Dong,B., Xu,Y. and Wang,Y. |
| Journal | J. Natl. Cancer Inst. 102 (14), 1052-1068 (2010) |
| Title | Lack of association between transient receptor potential cation channel 6 polymorphisms and primary membranous glomerulonephritis . |
| Author | Chen,W.C., Chen,S.Y., Chen,C.H., Chen,H.Y., Lin,Y.W., Ho,T.J., Huang,Y.C., Shen,J.L., Tsai,F.J. and Chen,Y.H. |
| Journal | Ren Fail 32 (6), 666-672 (2010) |
| Title | TRP4 (CCE1) protein is part of native calcium release-activated Ca2+-like channels in adrenal cells . |
| Author | Philipp,S., Trost,C., Warnat,J., Rautmann,J., Himmerkus,N., Schroth,G., Kretz,O., Nastainczyk,W., Cavalie,A., Hoth,M. and Flockerzi,V. |
| Journal | J. Biol. Chem. 275 (31), 23965-23972 (2000) |
| Title | Modulation of Ca(2+) entry by polypeptides of the inositol 1,4, 5-trisphosphate receptor (IP3R) that bind transient receptor potential (TRP): evidence for roles of TRP and IP3R in store depletion-activated Ca(2+) entry . |
| Author | Boulay,G., Brown,D.M., Qin,N., Jiang,M., Dietrich,A., Zhu,M.X., Chen,Z., Birnbaumer,M., Mikoshiba,K. and Birnbaumer,L. |
| Journal | Proc. Natl. Acad. Sci. U.S.A. 96 (26), 14955-14960 (1999) |
| Title | Linkage of a gene causing familial focal segmental glomerulosclerosis to chromosome 11 and further evidence of genetic heterogeneity . |
| Author | Winn,M.P., Conlon,P.J., Lynn,K.L., Howell,D.N., Slotterbeck,B.D., Smith,A.H., Graham,F.L., Bembe,M., Quarles,L.D., Pericak-Vance,M.A. and Vance,J.M. |
| Journal | Genomics 58 (2), 113-120 (1999) |
| Title | Direct activation of human TRPC6 and TRPC3 channels by diacylglycerol . |
| Author | Hofmann,T., Obukhov,A.G., Schaefer,M., Harteneck,C., Gudermann,T. and Schultz,G. |
| Journal | Nature 397 (6716), 259-263 (1999) |
| Title | Identification and assignment of the human transient receptor potential channel 6 gene TRPC6 to chromosome 11q21-->q22 . |
| Author | D'Esposito,M., Strazzullo,M., Cuccurese,M., Spalluto,C., Rocchi,M., D'Urso,M. and Ciccodicola,A. |
| Journal | Cytogenet. Cell Genet. 83 (1-2), 46-47 (1998) |
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