KEGG   Homo sapiens (human): 59341
Entry
59341             CDS       T01001                                 
Symbol
TRPV4, BCYM3, CMT2C, HMSN2C, OTRPC4, SMAL, SPSMA, SSQTL1, TRP12, VRL2, VROAC
Name
(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
H00522  Brachyolmia
H00524  Scapuloperoneal spinal muscular atrophy
H00856  Distal hereditary motor neuropathies
H01529  Avascular necrosis of femoral head
H02062  Familial digital arthropathy-brachydactyly
H02183  Parastremmatic dwarfism
H02184  Metatropic dysplasia
H02185  Spondylometaphyseal dysplasia
H02186  Spondyloepiphyseal dysplasia, Maroteaux type
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09143 Cell growth and death
   04218 Cellular senescence
    59341 (TRPV4)
 09150 Organismal Systems
  09157 Sensory system
   04750 Inflammatory mediator regulation of TRP channels
    59341 (TRPV4)
 09160 Human Diseases
  09166 Cardiovascular disease
   05418 Fluid shear stress and atherosclerosis
    59341 (TRPV4)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    59341 (TRPV4)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Transient receptor potential channel (TRP)
   59341 (TRPV4)
SSDB
Motif
Pfam: Ank_2 Ank Ion_trans Ank_3 Ank_4 Ank_5
Other DBs
NCBI-GeneID: 59341
NCBI-ProteinID: NP_067638
OMIM: 605427
HGNC: 18083
Ensembl: ENSG00000111199
UniProt: Q9HBA0
Structure
Position
12:complement(109783087..109833398)
AA seq 871 aa
MADSSEGPRAGPGEVAELPGDESGTPGGEAFPLSSLANLFEGEDGSLSPSPADASRPAGP
GDGRPNLRMKFQGAFRKGVPNPIDLLESTLYESSVVPGPKKAPMDSLFDYGTYRHHSSDN
KRWRKKIIEKQPQSPKAPAPQPPPILKVFNRPILFDIVSRGSTADLDGLLPFLLTHKKRL
TDEEFREPSTGKTCLPKALLNLSNGRNDTIPVLLDIAERTGNMREFINSPFRDIYYRGQT
ALHIAIERRCKHYVELLVAQGADVHAQARGRFFQPKDEGGYFYFGELPLSLAACTNQPHI
VNYLTENPHKKADMRRQDSRGNTVLHALVAIADNTRENTKFVTKMYDLLLLKCARLFPDS
NLEAVLNNDGLSPLMMAAKTGKIGIFQHIIRREVTDEDTRHLSRKFKDWAYGPVYSSLYD
LSSLDTCGEEASVLEILVYNSKIENRHEMLAVEPINELLRDKWRKFGAVSFYINVVSYLC
AMVIFTLTAYYQPLEGTPPYPYRTTVDYLRLAGEVITLFTGVLFFFTNIKDLFMKKCPGV
NSLFIDGSFQLLYFIYSVLVIVSAALYLAGIEAYLAVMVFALVLGWMNALYFTRGLKLTG
TYSIMIQKILFKDLFRFLLVYLLFMIGYASALVSLLNPCANMKVCNEDQTNCTVPTYPSC
RDSETFSTFLLDLFKLTIGMGDLEMLSSTKYPVVFIILLVTYIILTFVLLLNMLIALMGE
TVGQVSKESKHIWKLQWATTILDIERSFPVFLRKAFRSGEMVTVGKSSDGTPDRRWCFRV
DEVNWSHWNQNLGIINEDPGKNETYQYYGFSHTVGRLRRDRWSSVVPRVVELNKNSNPDE
VVVPLDSMGNPRCDGHQQGYPRKWRTDDAPL
NT seq 2616 nt   +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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Ontology (2)   
   KEGG BRITE (2)   
Pathway (3)   
   KEGG PATHWAY (3)   
Disease (22)   
   KEGG DISEASE (10)   
   OMIM (12)   
Genome (1)   
   KEGG GENOME (1)   
Gene (10)   
   KEGG ORTHOLOGY (1)   
   RefGene (4)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   OC (1)   
Protein sequence (29)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (27)   
DNA sequence (57)   
   RefSeq(nuc) (27)   
   GenBank (15)   
   EMBL (15)   
3D Structure (13)   
   PDB (13)   
Protein domain (6)   
   Pfam (6)   
All databases (143)   

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