LOCUS       NM_004621               4691 bp    mRNA    linear   PRI 01-OCT-2024
DEFINITION  Homo sapiens transient receptor potential cation channel subfamily
            C member 6 (TRPC6), mRNA.
ACCESSION   NM_004621
VERSION     NM_004621.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4691)
  AUTHORS   Carl,C., Wagner,M., Linxweiler,M., Schick,B. and Tschernig,T.
  TITLE     Immunohistochemical expression of the cation channel TRPC6 in the
            submandibular and lacrimal gland and in salivary gland tumors
  JOURNAL   Pathol Res Pract 261, 155483 (2024)
   PUBMED   39098247
  REMARK    GeneRIF: Immunohistochemical expression of the cation channel TRPC6
            in the submandibular and lacrimal gland and in salivary gland
            tumors.
REFERENCE   2  (bases 1 to 4691)
  AUTHORS   Zhao,G., Li,J., Liu,Y., Li,G., Zhang,Y., Zhang,S. and Liu,C.
  TITLE     [Expansion of the genotypic and phenotypic spectrum and treatment
            of four children with Steroid-resistant nephrotic syndrome due to
            variants of TRPC6 gene]
  JOURNAL   Zhonghua Yi Xue Yi Chuan Xue Za Zhi 41 (4), 473-479 (2024)
   PUBMED   38565515
  REMARK    GeneRIF: [Expansion of the genotypic and phenotypic spectrum and
            treatment of four children with Steroid-resistant nephrotic
            syndrome due to variants of TRPC6 gene].
REFERENCE   3  (bases 1 to 4691)
  AUTHORS   Li,S., Ma,Q., Ma,Z., Shi,Y., Yu,X., Gu,B., Sun,S., Yu,C. and
            Pang,L.
  TITLE     Renal ischaemia-reperfusion injury is promoted by transcription
            factor NF-kB p65, which inhibits TRPC6 expression by activating
            miR-150
  JOURNAL   Clin Hemorheol Microcirc 86 (3), 369-382 (2024)
   PUBMED   37980653
  REMARK    GeneRIF: Renal ischaemia-reperfusion injury is promoted by
            transcription factor NF-kB p65, which inhibits TRPC6 expression by
            activating miR-150.
REFERENCE   4  (bases 1 to 4691)
  AUTHORS   Wang,M., Zhang,X., Guo,J., Yang,S., Yang,F. and Chen,X.
  TITLE     TRPC6 Deletion Enhances eNOS Expression and Reduces LPS-Induced
            Acute Lung Injury
  JOURNAL   Int J Mol Sci 24 (23), 16756 (2023)
   PUBMED   38069081
  REMARK    GeneRIF: TRPC6 Deletion Enhances eNOS Expression and Reduces
            LPS-Induced Acute Lung Injury.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4691)
  AUTHORS   't Hart,D.C., van der Vlag,J. and Nijenhuis,T.
  TITLE     A Putative Role for TRPC6 in Immune-Mediated Kidney Injury
  JOURNAL   Int J Mol Sci 24 (22), 16419 (2023)
   PUBMED   38003608
  REMARK    GeneRIF: A Putative Role for TRPC6 in Immune-Mediated Kidney
            Injury.
            Review article
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 4691)
  AUTHORS   Philipp,S., Trost,C., Warnat,J., Rautmann,J., Himmerkus,N.,
            Schroth,G., Kretz,O., Nastainczyk,W., Cavalie,A., Hoth,M. and
            Flockerzi,V.
  TITLE     TRP4 (CCE1) protein is part of native calcium release-activated
            Ca2+-like channels in adrenal cells
  JOURNAL   J Biol Chem 275 (31), 23965-23972 (2000)
   PUBMED   10816590
REFERENCE   7  (bases 1 to 4691)
  AUTHORS   Boulay,G., Brown,D.M., Qin,N., Jiang,M., Dietrich,A., Zhu,M.X.,
            Chen,Z., Birnbaumer,M., Mikoshiba,K. and Birnbaumer,L.
  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
  JOURNAL   Proc Natl Acad Sci U S A 96 (26), 14955-14960 (1999)
   PUBMED   10611319
REFERENCE   8  (bases 1 to 4691)
  AUTHORS   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.
  TITLE     Linkage of a gene causing familial focal segmental
            glomerulosclerosis to chromosome 11 and further evidence of genetic
            heterogeneity
  JOURNAL   Genomics 58 (2), 113-120 (1999)
   PUBMED   10368108
REFERENCE   9  (bases 1 to 4691)
  AUTHORS   Hofmann,T., Obukhov,A.G., Schaefer,M., Harteneck,C., Gudermann,T.
            and Schultz,G.
  TITLE     Direct activation of human TRPC6 and TRPC3 channels by
            diacylglycerol
  JOURNAL   Nature 397 (6716), 259-263 (1999)
   PUBMED   9930701
REFERENCE   10 (bases 1 to 4691)
  AUTHORS   D'Esposito,M., Strazzullo,M., Cuccurese,M., Spalluto,C., Rocchi,M.,
            D'Urso,M. and Ciccodicola,A.
  TITLE     Identification and assignment of the human transient receptor
            potential channel 6 gene TRPC6 to chromosome 11q21-->q22
  JOURNAL   Cytogenet Cell Genet 83 (1-2), 46-47 (1998)
   PUBMED   9925922
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP003080.3, AJ006276.1 and
            AK001960.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_004621.5.
            
            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, Mar 2009].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AJ006276.1, AF080394.2 [ECO:0000332]
            RNAseq introns              :: mixed/partial sample support
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000344327.8/ ENSP00000340913.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-79                AP003080.3         108998-109076       c
            80-4010             AJ006276.1         3-3933
            4011-4691           AK001960.1         1040-1720
FEATURES             Location/Qualifiers
     source          1..4691
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q22.1"
     gene            1..4691
                     /gene="TRPC6"
                     /gene_synonym="FSGS2; TRP6"
                     /note="transient receptor potential cation channel
                     subfamily C member 6"
                     /db_xref="GeneID:7225"
                     /db_xref="HGNC:HGNC:12338"
                     /db_xref="MIM:603652"
     exon            1..674
                     /gene="TRPC6"
                     /gene_synonym="FSGS2; TRP6"
                     /inference="alignment:Splign:2.1.0"
     CDS             505..3300
                     /gene="TRPC6"
                     /gene_synonym="FSGS2; TRP6"
                     /note="TRP-6; transient receptor protein 6; focal
                     segmental glomerulosclerosis 2"
                     /codon_start=1
                     /product="short transient receptor potential channel 6"
                     /protein_id="NP_004612.2"
                     /db_xref="CCDS:CCDS8311.1"
                     /db_xref="GeneID:7225"
                     /db_xref="HGNC:HGNC:12338"
                     /db_xref="MIM:603652"
                     /translation="MSQSPAFGPRRGSSPRGAAGAAARRNESQDYLLMDSELGEDGCP
                     QAPLPCYGYYPCFRGSDNRLAHRRQTVLREKGRRLANRGPAYMFSDRSTSLSIEEERF
                     LDAAEYGNIPVVRKMLEECHSLNVNCVDYMGQNALQLAVANEHLEITELLLKKENLSR
                     VGDALLLAISKGYVRIVEAILSHPAFAEGKRLATSPSQSELQQDDFYAYDEDGTRFSH
                     DVTPIILAAHCQEYEIVHTLLRKGARIERPHDYFCKCNDCNQKQKHDSFSHSRSRINA
                     YKGLASPAYLSLSSEDPVMTALELSNELAVLANIEKEFKNDYKKLSMQCKDFVVGLLD
                     LCRNTEEVEAILNGDVETLQSGDHGRPNLSRLKLAIKYEVKKFVAHPNCQQQLLSIWY
                     ENLSGLRQQTMAVKFLVVLAVAIGLPFLALIYWFAPCSKMGKIMRGPFMKFVAHAASF
                     TIFLGLLVMNAADRFEGTKLLPNETSTDNAKQLFRMKTSCFSWMEMLIISWVIGMIWA
                     ECKEIWTQGPKEYLFELWNMLDFGMLAIFAASFIARFMAFWHASKAQSIIDANDTLKD
                     LTKVTLGDNVKYYNLARIKWDPSDPQIISEGLYAIAVVLSFSRIAYILPANESFGPLQ
                     ISLGRTVKDIFKFMVIFIMVFVAFMIGMFNLYSYYIGAKQNEAFTTVEESFKTLFWAI
                     FGLSEVKSVVINYNHKFIENIGYVLYGVYNVTMVIVLLNMLIAMINSSFQEIEDDADV
                     EWKFARAKLWFSYFEEGRTLPVPFNLVPSPKSLFYLLLKLKKWISELFQGHKKGFQED
                     AEMNKINEEKKLGILGSHEDLSKLSLDKKQVGHNKQPSIRSSEDFHLNSFNNPPRQYQ
                     KIMKRLIKRYVLQAQIDKESDEVNEGELKEIKQDISSLRYELLEEKSQNTEDLAELIR
                     ELGEKLSMEPNQEETNR"
     exon            675..1449
                     /gene="TRPC6"
                     /gene_synonym="FSGS2; TRP6"
                     /inference="alignment:Splign:2.1.0"
     exon            1450..1632
                     /gene="TRPC6"
                     /gene_synonym="FSGS2; TRP6"
                     /inference="alignment:Splign:2.1.0"
     exon            1633..1797
                     /gene="TRPC6"
                     /gene_synonym="FSGS2; TRP6"
                     /inference="alignment:Splign:2.1.0"
     exon            1798..2014
                     /gene="TRPC6"
                     /gene_synonym="FSGS2; TRP6"
                     /inference="alignment:Splign:2.1.0"
     exon            2015..2248
                     /gene="TRPC6"
                     /gene_synonym="FSGS2; TRP6"
                     /inference="alignment:Splign:2.1.0"
     exon            2249..2513
                     /gene="TRPC6"
                     /gene_synonym="FSGS2; TRP6"
                     /inference="alignment:Splign:2.1.0"
     exon            2514..2709
                     /gene="TRPC6"
                     /gene_synonym="FSGS2; TRP6"
                     /inference="alignment:Splign:2.1.0"
     exon            2710..2913
                     /gene="TRPC6"
                     /gene_synonym="FSGS2; TRP6"
                     /inference="alignment:Splign:2.1.0"
     exon            2914..2988
                     /gene="TRPC6"
                     /gene_synonym="FSGS2; TRP6"
                     /inference="alignment:Splign:2.1.0"
     exon            2989..3072
                     /gene="TRPC6"
                     /gene_synonym="FSGS2; TRP6"
                     /inference="alignment:Splign:2.1.0"
     exon            3073..3148
                     /gene="TRPC6"
                     /gene_synonym="FSGS2; TRP6"
                     /inference="alignment:Splign:2.1.0"
     exon            3149..4691
                     /gene="TRPC6"
                     /gene_synonym="FSGS2; TRP6"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3538..3543
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TRPC6"
                     /gene_synonym="FSGS2; TRP6"
                     /note="hexamer: TATAAA"
     polyA_site      3561
                     /gene="TRPC6"
                     /gene_synonym="FSGS2; TRP6"
                     /note="major polyA site"
     regulatory      4296..4301
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TRPC6"
                     /gene_synonym="FSGS2; TRP6"
                     /note="hexamer: TATAAA"
     polyA_site      4332
                     /gene="TRPC6"
                     /gene_synonym="FSGS2; TRP6"
     regulatory      4670..4675
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TRPC6"
                     /gene_synonym="FSGS2; TRP6"
                     /note="hexamer: CATAAA"
     polyA_site      4691
                     /gene="TRPC6"
                     /gene_synonym="FSGS2; TRP6"
ORIGIN      
        1 ataccgcctc ctgaaagttg tggctacagg acaggctttg gctgctttct agaacgtcgc
       61 tcggatccct ttaaaggtgg ggatcttgac ggagagtgcg ggggatgaag gcgggagctg
      121 agggctggag agtctctgtt gacatagtaa ctcttcagct ccgtctccct tgctctccgc
      181 tcttacgctt cgctaccacc agcggccccg cctgtgccct ctctgcccgg gcgccccaga
      241 cgcatcctcg cggggtctcc tcggcctgac ctgctcaggt caagatcctc tttgcacccc
      301 cttaagtggt gacttttccc cgggccagtg ggcgagccac ttgcggcggg cgtctgcacc
      361 ccctgcttca ccgtcgtccc ctgggcaccg gtctgcccag gtccagttcg gccgctgacg
      421 cgaaccctcc gcaccgggtc cccgctggaa ctgcccactc ggctcccccg ggagcggggc
      481 ccaggccagt cgggcgttcc cgccatgagc cagagcccgg cgttcgggcc ccggaggggc
      541 agttctcccc ggggcgctgc cggagccgct gcgcggcgca acgagagcca ggactatctg
      601 ctcatggact cggagctggg agaagacggc tgcccgcaag ccccgctgcc ttgctacggc
      661 tactacccct gcttccgggg atctgacaac agactggctc accggcggca gacagttctc
      721 cgtgagaagg ggagaaggtt agctaatcga ggaccagcat acatgtttag tgatcgctcc
      781 acaagcctat ctatagagga ggaacgcttt ttggatgcag ctgaatatgg taacatccca
      841 gtggtgcgga agatgttaga agaatgccac tcactcaacg ttaactgtgt ggattacatg
      901 ggccagaatg ccctacagtt ggcagtggcc aatgagcatc tggaaattac agaacttctt
      961 ctcaagaaag aaaacctctc tcgagttggg gatgctttgc ttctagctat tagtaaaggt
     1021 tatgttcgga ttgtggaagc aattctcagt catccggctt ttgctgaagg caagaggtta
     1081 gcaaccagcc ctagccagtc tgaactccag caagatgatt tttatgccta tgatgaagat
     1141 gggacacggt tctcccatga tgtgactcca atcattctgg ctgcccactg ccaggaatat
     1201 gaaattgtgc ataccctcct gcggaagggt gctaggattg aacggcctca tgattatttc
     1261 tgcaagtgca atgactgcaa ccagaaacag aagcatgact cgtttagcca ctccagatct
     1321 aggattaatg cctataaagg cctggcaagt ccggcttacc tgtcattgtc tagtgaagat
     1381 ccagtcatga cggctttaga acttagcaat gaactggcag ttctggccaa tattgagaaa
     1441 gagttcaaga atgactacaa aaaactgtca atgcagtgca aagactttgt tgttggactc
     1501 cttgatctgt gcagaaacac tgaagaagtc gaggccattc tgaatgggga tgttgaaacg
     1561 ctccagagtg gtgatcacgg tcgcccaaat ctcagccgtt taaaacttgc cattaaatat
     1621 gaagtaaaaa aatttgtagc tcatccaaac tgccaacagc aacttctctc catttggtat
     1681 gagaatcttt ctggtttacg acagcagaca atggcggtca agttccttgt ggtccttgct
     1741 gttgccattg gactgccctt cctggctctc atttactggt ttgctccatg cagcaagatg
     1801 gggaagataa tgcgtggacc attcatgaag tttgtagcac acgcagcctc cttcaccatt
     1861 tttctgggac tgctagtcat gaatgcagct gacagatttg aaggcacaaa actccttcct
     1921 aatgaaacca gcacagataa tgcaaaacag ctgttcagga tgaaaacatc ctgcttctca
     1981 tggatggaga tgctcattat atcctgggta ataggcatga tatgggctga atgtaaagaa
     2041 atctggactc agggccccaa ggaatatttg tttgagttgt ggaacatgct tgattttggt
     2101 atgttagcaa ttttcgcagc atcattcatt gcgagattca tggcattttg gcatgcttcc
     2161 aaagcccaga gcatcattga cgcaaatgat actttgaagg acttgacgaa agtaacattg
     2221 ggagacaatg tgaaatacta caatttggcc aggataaagt gggacccctc tgatcctcaa
     2281 ataatatctg aaggtcttta tgcaattgct gtagttttaa gtttctctag gatagcttat
     2341 attttaccag caaatgaaag ctttggacct ctgcagatat cacttggaag aacagtcaaa
     2401 gacatcttca agttcatggt catattcatt atggtgtttg tggcctttat gattggaatg
     2461 ttcaatctct actcctacta cattggtgca aaacaaaatg aagccttcac aacagttgaa
     2521 gagagtttta agacactgtt ctgggctata tttggacttt ctgaagtgaa atcagtggtc
     2581 atcaactata accacaaatt cattgaaaac attggttacg ttctttatgg agtctataat
     2641 gttacgatgg tcattgtttt gctaaatatg ttaattgcca tgatcaacag ttcattccag
     2701 gaaattgagg atgacgctga tgtggagtgg aaatttgcaa gggccaaact ctggttttcc
     2761 tactttgagg agggcagaac acttcctgta cccttcaatc tggtgccgag tccaaagtcc
     2821 ctgttttatc tcttactgaa gcttaaaaaa tggatttctg agctgttcca gggccataaa
     2881 aaaggtttcc aggaagatgc agagatgaac aagataaatg aagaaaagaa acttggaatt
     2941 ttaggaagtc atgaagacct ttcaaaatta tcacttgaca aaaaacaggt tgggcacaat
     3001 aaacaaccaa gtataaggag ctcagaagat ttccatctaa atagtttcaa taatcctcca
     3061 agacaatatc agaaaataat gaaaaggctc attaaaagat atgtactgca ggcccagata
     3121 gataaggaga gtgatgaagt gaacgaaggg gaactgaagg aaattaagca ggacatctca
     3181 agtctccgct atgaactcct tgaagaaaaa tctcagaata cagaagacct agcagaactt
     3241 attagagaac ttggagagaa attatccatg gaaccaaatc aagaggaaac caatagataa
     3301 tgcgaagact tccttagaaa ttcatattta tttgtccact tgaagccata ttattttctg
     3361 atttattttc ttaagtgcca atgggcccac cttttaaaca agaaaacgtt aaataacttg
     3421 ggccatccta tcatctggag ccctagtatc taattttttt ggtgattaaa ctccattgtt
     3481 cagggtaaag gctgtagata atgaggaaaa ttatgcccag ttgtttggtg cttgttttat
     3541 aaactgcttt cttggatata actaactctt gtgatgatgt cattgccatg tagtgtctgc
     3601 ctgaaaatgg gtcccagcgg acaggggctg acccacgtta ctccccatgc ggtttttcct
     3661 ctgaagttta tttcaggttc cttcttgcct gctctgtgga tcccctgctg gggactccca
     3721 gctctgaaat ttgggaaaaa gtagcccatg ggcctttaga atgctttaat cctttcttta
     3781 gaatgctgtt taaacaccat ttaccctact tatccctcaa tgcacatgat tgataccgtt
     3841 catacaaaat ggtcttacat ctatgtaaaa ttttctgatt catctatttg aaaacattac
     3901 acttaacaat gaaaaaagtt tttcctccac tgaaccctgg aaacatggtc cagttttgtg
     3961 tgtgtgcgtg tgtgtaaatg tgtacacaca gacataaagt acttgcccta gtttgtggct
     4021 aatgtggaca cacaaaagct ctttatgtta taaattttta ttgtcactaa aaaattttac
     4081 tgtctaaata agtacctttt attggagaaa aatcaaaacc ccaaacaaac actgtggttg
     4141 tttggttcca ttatagcaca attttgtgcc atttctggga gcatttacag atgaatcccc
     4201 acacttagcc attgaatgta aaggggaaaa ataaggtgag aatttgtaaa tacttatctg
     4261 ttattttcaa tatgttctat ccttctaccc aaatatataa aacaggaatt tgcattcatg
     4321 tgcatttacc aagaggttgt tgttgttact tactgatcat gtgaagtggt gtcttaaaca
     4381 actaaaagcg atgaaggttc atatgtttac tcaaagacca ttggcattca gaggatgctg
     4441 gacattaact ggaactgcta cttccaattc aataatggga gatttcaaat gcaaatcttt
     4501 aacttcatct taaagatgaa atggttgcag aaaatctgtt tagctccaac tttggcttaa
     4561 tttaaatcaa agaacattta tgtaaccaga tcagaaaata cagctgaaaa tttatattca
     4621 gtgattttgt atttgtggat actacttatg gaaaagttac ttggtgatac ataaagatcg
     4681 attttcaaat a
//
