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
hsa04218  Cellular senescence
hsa04750  Inflammatory mediator regulation of TRP channels
hsa05418  Fluid shear stress and atherosclerosis
Disease
H00264  Charcot-Marie-Tooth disease (CMT)
H00522  TRPV4-related skeletal dysplasias
H00524  Scapuloperoneal spinal muscular atrophy (SPSMA)
H00856  Distal hereditary motor neuropathies (dHMN)
H02062  Familial digital arthropathy-brachydactyly
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Cellular Processes
  Cell growth and death
   04218 Cellular senescence
    59341 (TRPV4)
 Organismal Systems
  Sensory system
   04750 Inflammatory mediator regulation of TRP channels
    59341 (TRPV4)
 Human Diseases
  Cardiovascular diseases
   05418 Fluid shear stress and atherosclerosis
    59341 (TRPV4)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Transient receptor potential channel (TRP)
   59341 (TRPV4)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Ion_trans Ank_2 Ank Ank_5 Ank_3 Ank_4
Motif
Other DBs
NCBI-GeneID: 59341
NCBI-ProteinID: NP_067638
OMIM: 605427
HGNC: 18083
Ensembl: ENSG00000111199
Vega: OTTHUMG00000169277
Pharos: Q9HBA0(Tchem)
UniProt: Q9HBA0
Structure
PDB: 

Position
12q24.11
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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