AutismKB 2.0

Annotation Detail for KCNQ3


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Basic Information Top
Gene Symbol:KCNQ3 ( BFNC2,EBN2,KV7.3 )
Gene Full Name: potassium voltage-gated channel, KQT-like subfamily, member 3
Band: 8q24.22
Quick LinksEntrez ID:3786; OMIM: 602232; Uniprot ID:KCNQ3_HUMAN; ENSEMBL ID: ENSG00000184156; HGNC ID: 6297
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
321Selectivity filter (By similarity).
598Phosphoserine (By similarity).
746Phosphothreonine.
Location(AA) Modifications Resource
246PhosphothreoninePhospho.ELM 6.0
578PhosphoserinePhospho.ELM 6.0
579PhosphothreoninePhospho.ELM 6.0
598Phosphoserine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
148Phosphotyrosine(Syk)HMM predict
181S-palmitoylHMM predict
182S-palmitoylHMM predict
303Phosphotyrosine(Syk)HMM predict
421Phosphoserine(ATM)HMM predict
433Phosphoserine(PKG)HMM predict
579Phosphothreonine(CDK)HMM predict
579Phosphothreonine(MAPK)HMM predict
579Phosphothreonine(CDC2)HMM predict
611Phosphoserine(CK2)HMM predict
663O-linkedHMM predict
665O-linkedHMM predict
665Phosphoserine(CDC2)HMM predict
677Phosphotyrosine(Syk)HMM predict
686N-linkedHMM predict
697Phosphotyrosine(Abl)HMM predict
697Phosphotyrosine(SRC)HMM predict
726Phosphoserine(CDC2)HMM predict
733PhosphothreonineHMM predict
733Phosphothreonine(MAPK)HMM predict
733O-linkedHMM predict
733O-linkedHMM predict
736O-linkedHMM predict
739O-linkedHMM predict
783Phosphothreonine(PKA)HMM predict
788Phosphothreonine(MAPK)HMM predict
810Phosphoserine(ATM)HMM predict
816SulfotyrosineHMM predict
846Phosphothreonine(MAPK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_004519
  • Location:chr8 133210438-133562185
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 133571010 133571270 260 8955
CTCF CD4SISSRdata 133571010 133571270 260 8955
H3K27me3 colorectalcancer 133562993 133565644 2651 2133
TAF HelaGSE8489 133576276 133577090 814 14498
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Fos K562GSE19551 133201677 133202200 523 8500
Nanog hESGSE18292 133201838 133202249 411 8395
P300 T30-glioblastomaGSE21026 133201699 133202324 625 8427
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 133226442 133226595 153 0
CTCF CD4GSE12889 133273529 133273777 248 0
CTCF CD4GSE12889 133297068 133297191 123 0
CTCF CD4GSE12889 133477415 133477699 284 0
CTCF CD4SISSRdata 133226442 133226595 153 0
CTCF CD4SISSRdata 133273529 133273777 248 0
CTCF CD4SISSRdata 133297068 133297191 123 0
CTCF CD4SISSRdata 133477415 133477699 284 0
CTCF HelaGSE12889 133296937 133297242 305 0
CTCF HelaGSE12889 133477278 133477747 469 0
FOXA1 DLD1GSE12801 133256490 133256771 281 0
FOXA1 MCF7GSE15244 133453134 133453420 286 0
H3K27me3 colorectalcancer 133560010 133561491 1481 0
NRSF JurkatGSE13047 133445654 133446222 568 0
NRSF JurkatGSE13047 133486530 133488187 1657 0
NRSF mAbJurkat 133443611 133446052 2441 0
NRSF mAbJurkat 133446414 133446660 246 0
NRSF mAbJurkat 133486159 133489888 3729 0
NRSF-mono JurkatQuESTdata 133445766 133446226 460 0
NRSF-mono JurkatQuESTdata 133486847 133487682 835 0
NRSF pAbJurkat 133486413 133489297 2884 0
NRSF pAbJurkat 133531959 133532173 214 0
NRSF pAbJurkat 133561796 133562277 481 0
NRSF-poly JurkatQuESTdata 133445774 133446211 437 0
NRSF-poly JurkatQuESTdata 133486341 133487562 1221 0
Nanog ESGSE20650 133222081 133222585 504 0
Oct4 hESGSE17917 133222053 133222490 437 0
Rb QuiescentGSE19898 133238056 133238181 125 0
STAT1 HeLaGSE12783 133559521 133560604 1083 0
STAT1 IFNSISSRdata 133559744 133560383 639 0
Stat6 IL-4-hr1GSE17850 133520059 133520501 442 0
TAF HelaGSE8489 133396246 133396583 337 0
hScc1 BcellGSE12603 133273376 133273826 450 0
hScc1 BcellGSE12603 133559860 133560370 510 0
hScc1 BcellGSE12603 133561491 133562056 565 0
hScc1 CdLSGSE12603 133226111 133226363 252 0
hScc1 CdLSGSE12603 133273090 133274032 942 0
hScc1 CdLSGSE12603 133296839 133297509 670 0
hScc1 CdLSGSE12603 133559893 133560450 557 0
hScc1 CdLSGSE12603 133561689 133562277 588 0
hScc1 G2GSE9613 133273340 133273826 486 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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