KEGG   Homo sapiens (human): 59341Help
Entry
59341             CDS       T01001                                 

Gene name
TRPV4, BCYM3, CMT2C, HMSN2C, OTRPC4, SMAL, SPSMA, SSQTL1, TRP12, VRL2, VROAC
Definition
(RefSeq) transient receptor potential cation channel subfamily V member 4
  KO
K04973  
transient receptor potential cation channel subfamily V member 4
Organism
hsa  Homo sapiens (human)
Pathway
Inflammatory mediator regulation of TRP channels
Disease
H00455  
Spinal muscular atrophy (SMA)
H00522  
TRPV4-related skeletal dysplasias
H00524  
TRPV4-related peripheral neuropathies
H00856  
Distal hereditary motor neuropathies (dHMN)
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Organismal Systems
  Sensory system
   04750 Inflammatory mediator regulation of TRP channels
    59341 (TRPV4)
Ion channels [BR:hsa04040]
 Related to voltage-gated cation channels
  Transient receptor potential family, TRPV (Vanilloid)
   59341 (TRPV4)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-ProteinID: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Structure
PDB: 

Jmol
Position
12q24.1
AA seq 871 aa AA seqDB search
MADSSEGPRAGPGEVAELPGDESGTPGGEAFPLSSLANLFEGEDGSLSPSPADASRPAGP
GDGRPNLRMKFQGAFRKGVPNPIDLLESTLYESSVVPGPKKAPMDSLFDYGTYRHHSSDN
KRWRKKIIEKQPQSPKAPAPQPPPILKVFNRPILFDIVSRGSTADLDGLLPFLLTHKKRL
TDEEFREPSTGKTCLPKALLNLSNGRNDTIPVLLDIAERTGNMREFINSPFRDIYYRGQT
ALHIAIERRCKHYVELLVAQGADVHAQARGRFFQPKDEGGYFYFGELPLSLAACTNQPHI
VNYLTENPHKKADMRRQDSRGNTVLHALVAIADNTRENTKFVTKMYDLLLLKCARLFPDS
NLEAVLNNDGLSPLMMAAKTGKIGIFQHIIRREVTDEDTRHLSRKFKDWAYGPVYSSLYD
LSSLDTCGEEASVLEILVYNSKIENRHEMLAVEPINELLRDKWRKFGAVSFYINVVSYLC
AMVIFTLTAYYQPLEGTPPYPYRTTVDYLRLAGEVITLFTGVLFFFTNIKDLFMKKCPGV
NSLFIDGSFQLLYFIYSVLVIVSAALYLAGIEAYLAVMVFALVLGWMNALYFTRGLKLTG
TYSIMIQKILFKDLFRFLLVYLLFMIGYASALVSLLNPCANMKVCNEDQTNCTVPTYPSC
RDSETFSTFLLDLFKLTIGMGDLEMLSSTKYPVVFIILLVTYIILTFVLLLNMLIALMGE
TVGQVSKESKHIWKLQWATTILDIERSFPVFLRKAFRSGEMVTVGKSSDGTPDRRWCFRV
DEVNWSHWNQNLGIINEDPGKNETYQYYGFSHTVGRLRRDRWSSVVPRVVELNKNSNPDE
VVVPLDSMGNPRCDGHQQGYPRKWRTDDAPL
NT seq 2616 nt NT seq  +upstreamnt  +downstreamnt
atggcggattccagcgaaggcccccgcgcggggcccggggaggtggctgagctccccggg
gatgagagtggcaccccaggtggggaggcttttcctctctcctccctggccaatctgttt
gagggggaggatggctccctttcgccctcaccggctgatgccagtcgccctgctggccca
ggcgatgggcgaccaaatctgcgcatgaagttccagggcgccttccgcaagggggtgccc
aaccccatcgatctgctggagtccaccctatatgagtcctcggtggtgcctgggcccaag
aaagcacccatggactcactgtttgactacggcacctatcgtcaccactccagtgacaac
aagaggtggaggaagaagatcatagagaagcagccgcagagccccaaagcccctgcccct
cagccgccccccatcctcaaagtcttcaaccggcctatcctctttgacatcgtgtcccgg
ggctccactgctgacctggacgggctgctcccattcttgctgacccacaagaaacgccta
actgatgaggagtttcgagagccatctacggggaagacctgcctgcccaaggccttgctg
aacctgagcaatggccgcaacgacaccatccctgtgctgctggacatcgcggagcgcacc
ggcaacatgagggagttcattaactcgcccttccgtgacatctactatcgaggtcagaca
gccctgcacatcgccattgagcgtcgctgcaaacactacgtggaacttctcgtggcccag
ggagctgatgtccacgcccaggcccgtgggcgcttcttccagcccaaggatgaggggggc
tacttctactttggggagctgcccctgtcgctggctgcctgcaccaaccagccccacatt
gtcaactacctgacggagaacccccacaagaaggcggacatgcggcgccaggactcgcga
ggcaacacagtgctgcatgcgctggtggccattgctgacaacacccgtgagaacaccaag
tttgttaccaagatgtacgacctgctgctgctcaagtgtgcccgcctcttccccgacagc
aacctggaggccgtgctcaacaacgacggcctctcgcccctcatgatggctgccaagacg
ggcaagattgggatctttcagcacatcatccggcgggaggtgacggatgaggacacacgg
cacctgtcccgcaagttcaaggactgggcctatgggccagtgtattcctcgctttatgac
ctctcctccctggacacgtgtggggaagaggcctccgtgctggagatcctggtgtacaac
agcaagattgagaaccgccacgagatgctggctgtggagcccatcaatgaactgctgcgg
gacaagtggcgcaagttcggggccgtctccttctacatcaacgtggtctcctacctgtgt
gccatggtcatcttcactctcaccgcctactaccagccgctggagggcacaccgccgtac
ccttaccgcaccacggtggactacctgcggctggctggcgaggtcattacgctcttcact
ggggtcctgttcttcttcaccaacatcaaagacttgttcatgaagaaatgccctggagtg
aattctctcttcattgatggctccttccagctgctctacttcatctactctgtcctggtg
atcgtctcagcagccctctacctggcagggatcgaggcctacctggccgtgatggtcttt
gccctggtcctgggctggatgaatgccctttacttcacccgtgggctgaagctgacgggg
acctatagcatcatgatccagaagattctcttcaaggaccttttccgattcctgctcgtc
tacttgctcttcatgatcggctacgcttcagccctggtctccctcctgaacccgtgtgcc
aacatgaaggtgtgcaatgaggaccagaccaactgcacagtgcccacttacccctcgtgc
cgtgacagcgagaccttcagcaccttcctcctggacctgtttaagctgaccatcggcatg
ggcgacctggagatgctgagcagcaccaagtaccccgtggtcttcatcatcctgctggtg
acctacatcatcctcacctttgtgctgctcctcaacatgctcattgccctcatgggcgag
acagtgggccaggtctccaaggagagcaagcacatctggaagctgcagtgggccaccacc
atcctggacattgagcgctccttccccgtattcctgaggaaggccttccgctctggggag
atggtcaccgtgggcaagagctcggacggcactcctgaccgcaggtggtgcttcagggtg
gatgaggtgaactggtctcactggaaccagaacttgggcatcatcaacgaggacccgggc
aagaatgagacctaccagtattatggcttctcgcataccgtgggccgcctccgcagggat
cgctggtcctcggtggtaccccgcgtggtggaactgaacaagaactcgaacccggacgag
gtggtggtgcctctggacagcatggggaacccccgctgcgatggccaccagcagggttac
ccccgcaagtggaggactgatgacgccccgctctag

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