LOCUS       NM_021625               3228 bp    mRNA    linear   PRI 10-FEB-2025
DEFINITION  Homo sapiens transient receptor potential cation channel subfamily
            V member 4 (TRPV4), transcript variant 1, mRNA.
ACCESSION   NM_021625
VERSION     NM_021625.5
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 3228)
  AUTHORS   Yamada,Y., Terada,Y., Yamanaka,R., Enoyoshi,M. and Ito,K.
  TITLE     TRPV4 activation in human corneal epithelial cells promotes
            membrane mucin production
  JOURNAL   Biochem Biophys Res Commun 731, 150402 (2024)
   PUBMED   39024979
  REMARK    GeneRIF: TRPV4 activation in human corneal epithelial cells
            promotes membrane mucin production.
REFERENCE   2  (bases 1 to 3228)
  AUTHORS   Wang,Q., Ji,C., Ali,A., Ding,I., Wang,Y. and McCulloch,C.A.
  TITLE     TRPV4 mediates IL-1-induced Ca2+ signaling, ERK activation and MMP
            expression
  JOURNAL   FASEB J 38 (11), e23731 (2024)
   PUBMED   38855909
  REMARK    GeneRIF: TRPV4 mediates IL-1-induced Ca[2+] signaling, ERK
            activation and MMP expression.
REFERENCE   3  (bases 1 to 3228)
  AUTHORS   Hansen,C.E., Kamermans,A., Mol,K., Berve,K., Rodriguez-Mogeda,C.,
            Fung,W.K., van Het Hof,B., Fontijn,R.D., van der Pol,S.M.A.,
            Michalick,L., Kuebler,W.M., Kenkhuis,B., van Roon-Mom,W.,
            Liedtke,W., Engelhardt,B., Kooij,G., Witte,M.E. and de Vries,H.E.
  TITLE     Inflammation-induced TRPV4 channels exacerbate blood-brain barrier
            dysfunction in multiple sclerosis
  JOURNAL   J Neuroinflammation 21 (1), 72 (2024)
   PUBMED   38521959
  REMARK    GeneRIF: Inflammation-induced TRPV4 channels exacerbate blood-brain
            barrier dysfunction in multiple sclerosis.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3228)
  AUTHORS   Wang,Q., Ji,C., Smith,P. and McCulloch,C.A.
  TITLE     Impact of TRP Channels on Extracellular Matrix Remodeling: Focus on
            TRPV4 and Collagen
  JOURNAL   Int J Mol Sci 25 (7), 3566 (2024)
   PUBMED   38612378
  REMARK    GeneRIF: Impact of TRP Channels on Extracellular Matrix Remodeling:
            Focus on TRPV4 and Collagen.
            Review article
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3228)
  AUTHORS   Strotmann,R., Harteneck,C., Nunnenmacher,K., Schultz,G. and
            Plant,T.D.
  TITLE     OTRPC4, a nonselective cation channel that confers sensitivity to
            extracellular osmolarity
  JOURNAL   Nat Cell Biol 2 (10), 695-702 (2000)
   PUBMED   11025659
REFERENCE   6  (bases 1 to 3228)
  AUTHORS   Harteneck,C., Plant,T.D. and Schultz,G.
  TITLE     From worm to man: three subfamilies of TRP channels
  JOURNAL   Trends Neurosci 23 (4), 159-166 (2000)
   PUBMED   10717675
  REMARK    Review article
REFERENCE   7  (bases 1 to 3228)
  AUTHORS   Donaghy,M. and Kennett,R.
  TITLE     Varying occurrence of vocal cord paralysis in a family with
            autosomal dominant hereditary motor and sensory neuropathy
  JOURNAL   J Neurol 246 (7), 552-555 (1999)
   PUBMED   10463355
REFERENCE   8  (bases 1 to 3228)
  AUTHORS   McCray,B.A., Schindler,A., Hoover-Fong,J.E. and Sumner,C.J.
  TITLE     Autosomal Dominant TRPV4 Disorders
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   24830047
REFERENCE   9  (bases 1 to 3228)
  AUTHORS   Bird,T.D.
  TITLE     Charcot-Marie-Tooth Hereditary Neuropathy Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301532
REFERENCE   10 (bases 1 to 3228)
  AUTHORS   Bird,T.D.
  TITLE     Charcot-Marie-Tooth Neuropathy Type 2 - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301462
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AJ296305.1 and AC007834.40.
            
            On Aug 31, 2019 this sequence version replaced NM_021625.4.
            
            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 (1) represents the longer
            transcript and encodes the longer isoform (a).
            
            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 :: AJ296305.1, AL834192.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000261740.7/ ENSP00000261740.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-749               AJ296305.1         10-758
            750-750             AC007834.40        96873-96873
            751-2113            AJ296305.1         760-2122
            2114-2114           AC007834.40        111332-111332
            2115-3228           AJ296305.1         2124-3237
FEATURES             Location/Qualifiers
     source          1..3228
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.11"
     gene            1..3228
                     /gene="TRPV4"
                     /gene_synonym="BCYM3; CMT2C; HMSN2C; OTRPC4; SMAL; SPSMA;
                     SSQTL1; TRP12; VRL2; VROAC"
                     /note="transient receptor potential cation channel
                     subfamily V member 4"
                     /db_xref="GeneID:59341"
                     /db_xref="HGNC:HGNC:18083"
                     /db_xref="MIM:605427"
     exon            1..49
                     /gene="TRPV4"
                     /gene_synonym="BCYM3; CMT2C; HMSN2C; OTRPC4; SMAL; SPSMA;
                     SSQTL1; TRP12; VRL2; VROAC"
                     /inference="alignment:Splign:2.1.0"
     exon            50..466
                     /gene="TRPV4"
                     /gene_synonym="BCYM3; CMT2C; HMSN2C; OTRPC4; SMAL; SPSMA;
                     SSQTL1; TRP12; VRL2; VROAC"
                     /inference="alignment:Splign:2.1.0"
     CDS             81..2696
                     /gene="TRPV4"
                     /gene_synonym="BCYM3; CMT2C; HMSN2C; OTRPC4; SMAL; SPSMA;
                     SSQTL1; TRP12; VRL2; VROAC"
                     /note="isoform a is encoded by transcript variant 1;
                     osmosensitive transient receptor potential channel 4;
                     OSM9-like transient receptor potential channel 4;
                     vanilloid receptor-related osmotically activated channel;
                     osm-9-like TRP channel 4; vanilloid receptor-like channel
                     2; transient receptor potential protein 12"
                     /codon_start=1
                     /product="transient receptor potential cation channel
                     subfamily V member 4 isoform a"
                     /protein_id="NP_067638.3"
                     /db_xref="CCDS:CCDS9134.1"
                     /db_xref="GeneID:59341"
                     /db_xref="HGNC:HGNC:18083"
                     /db_xref="MIM:605427"
                     /translation="MADSSEGPRAGPGEVAELPGDESGTPGGEAFPLSSLANLFEGED
                     GSLSPSPADASRPAGPGDGRPNLRMKFQGAFRKGVPNPIDLLESTLYESSVVPGPKKA
                     PMDSLFDYGTYRHHSSDNKRWRKKIIEKQPQSPKAPAPQPPPILKVFNRPILFDIVSR
                     GSTADLDGLLPFLLTHKKRLTDEEFREPSTGKTCLPKALLNLSNGRNDTIPVLLDIAE
                     RTGNMREFINSPFRDIYYRGQTALHIAIERRCKHYVELLVAQGADVHAQARGRFFQPK
                     DEGGYFYFGELPLSLAACTNQPHIVNYLTENPHKKADMRRQDSRGNTVLHALVAIADN
                     TRENTKFVTKMYDLLLLKCARLFPDSNLEAVLNNDGLSPLMMAAKTGKIGIFQHIIRR
                     EVTDEDTRHLSRKFKDWAYGPVYSSLYDLSSLDTCGEEASVLEILVYNSKIENRHEML
                     AVEPINELLRDKWRKFGAVSFYINVVSYLCAMVIFTLTAYYQPLEGTPPYPYRTTVDY
                     LRLAGEVITLFTGVLFFFTNIKDLFMKKCPGVNSLFIDGSFQLLYFIYSVLVIVSAAL
                     YLAGIEAYLAVMVFALVLGWMNALYFTRGLKLTGTYSIMIQKILFKDLFRFLLVYLLF
                     MIGYASALVSLLNPCANMKVCNEDQTNCTVPTYPSCRDSETFSTFLLDLFKLTIGMGD
                     LEMLSSTKYPVVFIILLVTYIILTFVLLLNMLIALMGETVGQVSKESKHIWKLQWATT
                     ILDIERSFPVFLRKAFRSGEMVTVGKSSDGTPDRRWCFRVDEVNWSHWNQNLGIINED
                     PGKNETYQYYGFSHTVGRLRRDRWSSVVPRVVELNKNSNPDEVVVPLDSMGNPRCDGH
                     QQGYPRKWRTDDAPL"
     exon            467..639
                     /gene="TRPV4"
                     /gene_synonym="BCYM3; CMT2C; HMSN2C; OTRPC4; SMAL; SPSMA;
                     SSQTL1; TRP12; VRL2; VROAC"
                     /inference="alignment:Splign:2.1.0"
     exon            640..792
                     /gene="TRPV4"
                     /gene_synonym="BCYM3; CMT2C; HMSN2C; OTRPC4; SMAL; SPSMA;
                     SSQTL1; TRP12; VRL2; VROAC"
                     /inference="alignment:Splign:2.1.0"
     exon            793..933
                     /gene="TRPV4"
                     /gene_synonym="BCYM3; CMT2C; HMSN2C; OTRPC4; SMAL; SPSMA;
                     SSQTL1; TRP12; VRL2; VROAC"
                     /inference="alignment:Splign:2.1.0"
     exon            934..1232
                     /gene="TRPV4"
                     /gene_synonym="BCYM3; CMT2C; HMSN2C; OTRPC4; SMAL; SPSMA;
                     SSQTL1; TRP12; VRL2; VROAC"
                     /inference="alignment:Splign:2.1.0"
     exon            1233..1412
                     /gene="TRPV4"
                     /gene_synonym="BCYM3; CMT2C; HMSN2C; OTRPC4; SMAL; SPSMA;
                     SSQTL1; TRP12; VRL2; VROAC"
                     /inference="alignment:Splign:2.1.0"
     exon            1413..1571
                     /gene="TRPV4"
                     /gene_synonym="BCYM3; CMT2C; HMSN2C; OTRPC4; SMAL; SPSMA;
                     SSQTL1; TRP12; VRL2; VROAC"
                     /inference="alignment:Splign:2.1.0"
     exon            1572..1664
                     /gene="TRPV4"
                     /gene_synonym="BCYM3; CMT2C; HMSN2C; OTRPC4; SMAL; SPSMA;
                     SSQTL1; TRP12; VRL2; VROAC"
                     /inference="alignment:Splign:2.1.0"
     exon            1665..1738
                     /gene="TRPV4"
                     /gene_synonym="BCYM3; CMT2C; HMSN2C; OTRPC4; SMAL; SPSMA;
                     SSQTL1; TRP12; VRL2; VROAC"
                     /inference="alignment:Splign:2.1.0"
     exon            1739..1904
                     /gene="TRPV4"
                     /gene_synonym="BCYM3; CMT2C; HMSN2C; OTRPC4; SMAL; SPSMA;
                     SSQTL1; TRP12; VRL2; VROAC"
                     /inference="alignment:Splign:2.1.0"
     exon            1905..1971
                     /gene="TRPV4"
                     /gene_synonym="BCYM3; CMT2C; HMSN2C; OTRPC4; SMAL; SPSMA;
                     SSQTL1; TRP12; VRL2; VROAC"
                     /inference="alignment:Splign:2.1.0"
     exon            1972..2288
                     /gene="TRPV4"
                     /gene_synonym="BCYM3; CMT2C; HMSN2C; OTRPC4; SMAL; SPSMA;
                     SSQTL1; TRP12; VRL2; VROAC"
                     /inference="alignment:Splign:2.1.0"
     exon            2289..2416
                     /gene="TRPV4"
                     /gene_synonym="BCYM3; CMT2C; HMSN2C; OTRPC4; SMAL; SPSMA;
                     SSQTL1; TRP12; VRL2; VROAC"
                     /inference="alignment:Splign:2.1.0"
     exon            2417..2538
                     /gene="TRPV4"
                     /gene_synonym="BCYM3; CMT2C; HMSN2C; OTRPC4; SMAL; SPSMA;
                     SSQTL1; TRP12; VRL2; VROAC"
                     /inference="alignment:Splign:2.1.0"
     exon            2539..3228
                     /gene="TRPV4"
                     /gene_synonym="BCYM3; CMT2C; HMSN2C; OTRPC4; SMAL; SPSMA;
                     SSQTL1; TRP12; VRL2; VROAC"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3204..3209
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TRPV4"
                     /gene_synonym="BCYM3; CMT2C; HMSN2C; OTRPC4; SMAL; SPSMA;
                     SSQTL1; TRP12; VRL2; VROAC"
                     /note="hexamer: AATAAA"
     polyA_site      3228
                     /gene="TRPV4"
                     /gene_synonym="BCYM3; CMT2C; HMSN2C; OTRPC4; SMAL; SPSMA;
                     SSQTL1; TRP12; VRL2; VROAC"
                     /note="major polyA site"
ORIGIN      
        1 attcaggaag cgcggatctc ccggccgccg gcgcccagcc gtcccggagg ctgagcagtg
       61 cagacgggcc tggggcaggc atggcggatt ccagcgaagg cccccgcgcg gggcccgggg
      121 aggtggctga gctccccggg gatgagagtg gcaccccagg tggggaggct tttcctctct
      181 cctccctggc caatctgttt gagggggagg atggctccct ttcgccctca ccggctgatg
      241 ccagtcgccc tgctggccca ggcgatgggc gaccaaatct gcgcatgaag ttccagggcg
      301 ccttccgcaa gggggtgccc aaccccatcg atctgctgga gtccacccta tatgagtcct
      361 cggtggtgcc tgggcccaag aaagcaccca tggactcact gtttgactac ggcacctatc
      421 gtcaccactc cagtgacaac aagaggtgga ggaagaagat catagagaag cagccgcaga
      481 gccccaaagc ccctgcccct cagccgcccc ccatcctcaa agtcttcaac cggcctatcc
      541 tctttgacat cgtgtcccgg ggctccactg ctgacctgga cgggctgctc ccattcttgc
      601 tgacccacaa gaaacgccta actgatgagg agtttcgaga gccatctacg gggaagacct
      661 gcctgcccaa ggccttgctg aacctgagca atggccgcaa cgacaccatc cctgtgctgc
      721 tggacatcgc ggagcgcacc ggcaacatga gggagttcat taactcgccc ttccgtgaca
      781 tctactatcg aggtcagaca gccctgcaca tcgccattga gcgtcgctgc aaacactacg
      841 tggaacttct cgtggcccag ggagctgatg tccacgccca ggcccgtggg cgcttcttcc
      901 agcccaagga tgaggggggc tacttctact ttggggagct gcccctgtcg ctggctgcct
      961 gcaccaacca gccccacatt gtcaactacc tgacggagaa cccccacaag aaggcggaca
     1021 tgcggcgcca ggactcgcga ggcaacacag tgctgcatgc gctggtggcc attgctgaca
     1081 acacccgtga gaacaccaag tttgttacca agatgtacga cctgctgctg ctcaagtgtg
     1141 cccgcctctt ccccgacagc aacctggagg ccgtgctcaa caacgacggc ctctcgcccc
     1201 tcatgatggc tgccaagacg ggcaagattg ggatctttca gcacatcatc cggcgggagg
     1261 tgacggatga ggacacacgg cacctgtccc gcaagttcaa ggactgggcc tatgggccag
     1321 tgtattcctc gctttatgac ctctcctccc tggacacgtg tggggaagag gcctccgtgc
     1381 tggagatcct ggtgtacaac agcaagattg agaaccgcca cgagatgctg gctgtggagc
     1441 ccatcaatga actgctgcgg gacaagtggc gcaagttcgg ggccgtctcc ttctacatca
     1501 acgtggtctc ctacctgtgt gccatggtca tcttcactct caccgcctac taccagccgc
     1561 tggagggcac accgccgtac ccttaccgca ccacggtgga ctacctgcgg ctggctggcg
     1621 aggtcattac gctcttcact ggggtcctgt tcttcttcac caacatcaaa gacttgttca
     1681 tgaagaaatg ccctggagtg aattctctct tcattgatgg ctccttccag ctgctctact
     1741 tcatctactc tgtcctggtg atcgtctcag cagccctcta cctggcaggg atcgaggcct
     1801 acctggccgt gatggtcttt gccctggtcc tgggctggat gaatgccctt tacttcaccc
     1861 gtgggctgaa gctgacgggg acctatagca tcatgatcca gaagattctc ttcaaggacc
     1921 ttttccgatt cctgctcgtc tacttgctct tcatgatcgg ctacgcttca gccctggtct
     1981 ccctcctgaa cccgtgtgcc aacatgaagg tgtgcaatga ggaccagacc aactgcacag
     2041 tgcccactta cccctcgtgc cgtgacagcg agaccttcag caccttcctc ctggacctgt
     2101 ttaagctgac catcggcatg ggcgacctgg agatgctgag cagcaccaag taccccgtgg
     2161 tcttcatcat cctgctggtg acctacatca tcctcacctt tgtgctgctc ctcaacatgc
     2221 tcattgccct catgggcgag acagtgggcc aggtctccaa ggagagcaag cacatctgga
     2281 agctgcagtg ggccaccacc atcctggaca ttgagcgctc cttccccgta ttcctgagga
     2341 aggccttccg ctctggggag atggtcaccg tgggcaagag ctcggacggc actcctgacc
     2401 gcaggtggtg cttcagggtg gatgaggtga actggtctca ctggaaccag aacttgggca
     2461 tcatcaacga ggacccgggc aagaatgaga cctaccagta ttatggcttc tcgcataccg
     2521 tgggccgcct ccgcagggat cgctggtcct cggtggtacc ccgcgtggtg gaactgaaca
     2581 agaactcgaa cccggacgag gtggtggtgc ctctggacag catggggaac ccccgctgcg
     2641 atggccacca gcagggttac ccccgcaagt ggaggactga tgacgccccg ctctagggac
     2701 tgcagcccag ccccagcttc tctgcccact catttctagt ccagccgcat ttcagcagtg
     2761 ccttctgggg tgtcccccca caccctgctt tggccccaga ggcgagggac cagtggaggt
     2821 gccagggagg ccccaggacc ctgtggtccc ctggctctgc ctccccaccc tggggtgggg
     2881 gctcccggcc acctgtcttg ctcctatgga gtcacataag ccaacgccag agcccctcca
     2941 cctcaggccc cagcccctgc ctctccatta tttatttgct ctgctctcag gaagcgacgt
     3001 gacccctgcc ccagctggaa cctggcagag gccttaggac cccgttccaa gtgcactgcc
     3061 cggccaagcc ccagcctcag cctgcgcctg agctgcatgc gccaccattt ttggcagcgt
     3121 ggcagctttg caaggggctg gggccctcgg cgtggggcca tgccttctgt gtgttctgta
     3181 gtgtctggga tttgccggtg ctcaataaat gtttattcat tgacggtg
//
