AutismKB 2.0

Annotation Detail for KCNQ4


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Basic Information Top
Gene Symbol:KCNQ4 ( DFNA2,DFNA2A,KV7.4 )
Gene Full Name: potassium voltage-gated channel, KQT-like subfamily, member 4
Band: 1p34.2
Quick LinksEntrez ID:9132; OMIM: 603537; Uniprot ID:KCNQ4_HUMAN; ENSEMBL ID: ENSG00000117013; HGNC ID: 6298
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
288Selectivity filter (By similarity).
Location(AA) Modifications Resource
Location(AA) Modification Resource
41Phosphoserine(CDC2)HMM predict
50Phosphoserine(CDK)HMM predict
50Phosphoserine(CDC2)HMM predict
63Phosphoserine(IKK)HMM predict
65Phosphoserine(IKK)HMM predict
65O-linkedHMM predict
67Phosphoserine(IKK)HMM predict
157S-palmitoylHMM predict
158S-palmitoylHMM predict
410O-linkedHMM predict
425Phosphoserine(IKK)HMM predict
445Phosphoserine(ATM)HMM predict
464Phosphoserine(MAPK)HMM predict
464Phosphoserine(CDC2)HMM predict
475Phosphoserine(CDK)HMM predict
475Phosphoserine(CDC2)HMM predict
494Phosphoserine(PKC)HMM predict
508Phosphoserine(CK1)HMM predict
517Phosphotyrosine(EGFR)HMM predict
594MethylarginineHMM predict
666Phosphoserine(CK1)HMM predict
670Phosphoserine(ATM)HMM predict
678Phosphoserine(CK1)HMM predict
683Phosphothreonine(PKC)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_004700
  • Location:chr1 41022270-41076946
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 41020575 41020866 291 1550
CTCF G2GSE9613 41021597 41022146 549 399
hScc1 BcellGSE12603 41020469 41020824 355 1624
hScc1 BcellGSE12603 41021359 41022146 787 518
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 41086522 41088843 2321 10736
hScc1 BcellGSE12603 41087412 41088807 1395 11163
hScc1 CdLSGSE12603 41086820 41087187 367 10057
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 41022538 41022762 224 0
CTCF G2GSE9613 41025998 41026371 373 0
CTCF G2GSE9613 41028640 41029186 546 0
CTCF G2GSE9613 41032432 41032583 151 0
CTCF G2GSE9613 41035341 41035612 271 0
CTCF G2GSE9613 41057283 41057530 247 0
CTCF G2GSE9613 41072291 41072558 267 0
CTCF G2GSE9613 41076637 41077111 474 0
ER E2-MCF7GSE14664 41057563 41057625 62 0
ER MCF7GSE19013 41041841 41042633 792 0
Gata1 K562GSE18868 41058834 41060087 1253 0
Gata2 K562GSE18868 41058896 41059862 966 0
NFkBII GM10847GSE19485 41047278 41048984 1706 0
NFkBII GM12878GSE19485 41047236 41048569 1333 0
NFkBII GM15510GSE19485 41047523 41048367 844 0
Oct1 HelaGSE14283 41057169 41057200 31 0
Oct1 HelaGSE14283 41057777 41057808 31 0
Sox2 hESGSE18292 41063166 41063464 298 0
TFAP2C MCF7GSE21234 41072455 41072825 370 0
hScc1 BcellGSE12603 41022538 41022971 433 0
hScc1 BcellGSE12603 41023209 41023528 319 0
hScc1 BcellGSE12603 41025874 41026288 414 0
hScc1 BcellGSE12603 41040540 41040910 370 0
hScc1 BcellGSE12603 41047403 41047666 263 0
hScc1 BcellGSE12603 41057488 41058888 1400 0
hScc1 BcellGSE12603 41071172 41071404 232 0
hScc1 BcellGSE12603 41072291 41072558 267 0
hScc1 BcellGSE12603 41075667 41077111 1444 0
hScc1 CdLSGSE12603 41022538 41022830 292 0
p63 keratinocytesGSE17611 41067942 41068800 858 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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