AutismKB 2.0

Annotation Detail for TRPV4


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Basic Information Top
Gene Symbol:TRPV4 ( CMT2C,HMSN2C,OTRPC4,SPSMA,TRP12,VRL2,VROAC )
Gene Full Name: transient receptor potential cation channel, subfamily V, member 4
Band: 12q24.11
Quick LinksEntrez ID:59341; OMIM: 605427; Uniprot ID:TRPV4_HUMAN; ENSEMBL ID: ENSG00000111199; HGNC ID: 18083
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
253Phosphotyrosine (By similarity).
824Phosphoserine; by PKC and PKA.
Location(AA) Modifications Resource
253Phosphotyrosine (By similarity).Swiss-Prot 53.0
253Phosphotyrosine (Lyn)Phospho.ELM 6.0
411PhosphotyrosinePhospho.ELM 6.0
Location(AA) Modification Resource
25Phosphothreonine(MAPK)HMM predict
25Phosphothreonine(CDC2)HMM predict
46Phosphoserine(IKK)HMM predict
46O-linkedHMM predict
48Phosphoserine(CDK)HMM predict
48Phosphoserine(CDC2)HMM predict
48Phosphoserine(ATM)HMM predict
48O-linkedHMM predict
50Phosphoserine(CDK)HMM predict
50Phosphoserine(ATM)HMM predict
50Phosphoserine(CDC2)HMM predict
55O-linkedHMM predict
110SulfotyrosineHMM predict
134Phosphoserine(IKK)HMM predict
134Phosphoserine(ATM)HMM predict
134Phosphoserine(CDC2)HMM predict
207N-linkedHMM predict
319PhosphoserineHMM predict
651N-linkedHMM predict
653O-linkedHMM predict
771Phosphothreonine(CDK)HMM predict
771Phosphothreonine(CDC2)HMM predict
784N-linkedHMM predict
789N-linkedHMM predict
802N-linkedHMM predict
805Phosphotyrosine(SRC)HMM predict
807SulfotyrosineHMM predict
808SulfotyrosineHMM predict
836Phosphoserine(CK2)HMM predict
866Phosphothreonine(PKA)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_021625
  • Location:chr12 108705276-108755594
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FOXA1 MCF7GSE15244 108759195 108759478 283 3742
P300 T30-glioblastomaGSE21026 108760113 108760709 596 4817
RARG MCF7GSE15244 108759195 108759478 283 3742
TFAP2C MCF7GSE21234 108762789 108763451 662 7526
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 108704512 108705044 532 499
NRSF pAbJurkat 108704512 108705292 780 375
USF1 HepG2E 108698533 108699537 1004 6242
USF1 HepG2E 108701430 108701975 545 3574
hScc1 BcellGSE12603 108704512 108704896 384 573
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 108727414 108727742 328 0
CTCF CD4SISSRdata 108727414 108727742 328 0
CTCF HelaGSE12889 108727538 108727868 330 0
CTCF JurkatGSE12889 108727489 108727874 385 0
CTCF G2GSE9613 108706240 108706634 394 0
CTCF G2GSE9613 108710193 108710928 735 0
CTCF G2GSE9613 108714707 108715011 304 0
CTCF G2GSE9613 108716169 108716545 376 0
CTCF G2GSE9613 108720456 108721240 784 0
CTCF G2GSE9613 108722603 108722898 295 0
CTCF G2GSE9613 108725061 108725203 142 0
CTCF G2GSE9613 108726867 108728137 1270 0
CTCF G2GSE9613 108733869 108734194 325 0
CTCF G2GSE9613 108736786 108737153 367 0
CTCF G2GSE9613 108737713 108737853 140 0
CTCF G2GSE9613 108744282 108744526 244 0
CTCF G2GSE9613 108745310 108745710 400 0
CTCF G2GSE9613 108754530 108754712 182 0
ER E2-MCF7GSE14664 108722835 108722894 59 0
ER E2-MCF7GSE14664 108727752 108727795 43 0
ER Fulvestrant-MCF7GSE14664 108727741 108727793 52 0
FOXA1 MCF7GSE15244 108705952 108706598 646 0
FOXA1 MCF7GSE15244 108741293 108741539 246 0
FoxA1 MCF7MACSdata 108741127 108741353 226 0
NRSF pAbJurkat 108710193 108710579 386 0
NRSF pAbJurkat 108741293 108741732 439 0
NRSF pAbJurkat 108745189 108745677 488 0
Oct4 hESGSE17917 108727556 108727979 423 0
Rb GrowingGSE19898 108737188 108737363 175 0
Rb SenescentGSE19898 108740695 108740877 182 0
TFAP2C MCF7GSE21234 108706002 108706605 603 0
TFAP2C MCF7GSE21234 108727524 108728012 488 0
TFAP2C MCF7GSE21234 108741029 108741585 556 0
hScc1 BcellGSE12603 108727385 108728137 752 0
hScc1 BcellGSE12603 108736859 108737301 442 0
hScc1 CdLSGSE12603 108727420 108728064 644 0
hScc1 G2GSE9613 108727349 108728209 860 0
hScc1 G2GSE9613 108733869 108734194 325 0
p63 keratinocytesGSE17611 108742904 108743903 999 0
Validated miRNA targets Top
Cis-Nats regulation Top

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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