AutismKB 2.0

Annotation Detail for KCNH4


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Basic Information Top
Gene Symbol:KCNH4 ( BEC2,ELK1,Kv12.3 )
Gene Full Name: potassium voltage-gated channel, subfamily H (eag-related), member 4
Band: 17q21.2
Quick LinksEntrez ID:23415; OMIM: 604528; Uniprot ID:KCNH4_HUMAN; ENSEMBL ID: ENSG00000089558; HGNC ID: 6253
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
326N-linked (GlcNAc...) (Potential).
414N-linked (GlcNAc...) (Potential).
444Selectivity filter (By similarity).
473N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
326N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
414N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
473N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
37Phosphothreonine(PKC)HMM predict
55Phosphotyrosine(EGFR)HMM predict
172Phosphoserine(PKG)HMM predict
174Phosphothreonine(PKC)HMM predict
186MethylarginineHMM predict
326N-linkedHMM predict
414N-linkedHMM predict
473N-linkedHMM predict
703Phosphoserine(CDC2)HMM predict
707Phosphoserine(CK1)HMM predict
707Phosphoserine(ATM)HMM predict
713Phosphoserine(IKK)HMM predict
713Phosphoserine(PKB)HMM predict
713Phosphoserine(PKA)HMM predict
717Phosphoserine(CDC2)HMM predict
748N-linkedHMM predict
750Phosphoserine(CDC2)HMM predict
777O-linkedHMM predict
777O-linkedHMM predict
779Phosphoserine(CDK)HMM predict
779Phosphoserine(ATM)HMM predict
783Phosphoserine(CDK)HMM predict
794O-linkedHMM predict
836Phosphoserine(CK2)HMM predict
856Phosphoserine(IKK)HMM predict
856Phosphoserine(PKG)HMM predict
866O-linkedHMM predict
921O-linkedHMM predict
924Phosphothreonine(CDC2)HMM predict
936S-palmitoylHMM predict
938Phosphoserine(IKK)HMM predict
942O-linkedHMM predict
947O-linkedHMM predict
992Phosphoserine(CDC2)HMM predict
998O-linkedHMM predict
1001Phosphothreonine(CDK)HMM predict
1001Phosphothreonine(MAPK)HMM predict
1001O-linkedHMM predict
1008Phosphoserine(PKA)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_012285
  • Location:chr17 37562438-37586821
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF HelaGSE12889 37586934 37587176 242 234
Myc K562GSE19551 37586618 37587326 708 151
Rb GrowingGSE19898 37586905 37587050 145 156
Rb QuiescentGSE19898 37586892 37587084 192 167
Rb SenescentGSE19898 37586812 37587177 365 173
hScc1 CdLSGSE12603 37586318 37587397 1079 36
p130 shRbSenescentGSE19898 37586785 37587181 396 162
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 37568731 37568966 235 0
CTCF CD4SISSRdata 37568731 37568966 235 0
CTCF JurkatGSE12889 37568704 37568911 207 0
CTCF G2GSE9613 37568476 37569285 809 0
NFkBII GM10847GSE19485 37584028 37585170 1142 0
NFkBII GM12892GSE19485 37583975 37585404 1429 0
NFkBII GM18526GSE19485 37584041 37585145 1104 0
NRSF JurkatGSE13047 37584718 37587391 2673 0
NRSF mAbJurkat 37580599 37581665 1066 0
NRSF mAbJurkat 37583087 37586348 3261 0
NRSF-mono JurkatQuESTdata 37585034 37587384 2350 0
NRSF-poly JurkatQuESTdata 37585169 37587204 2035 0
Rb GrowingGSE19898 37585734 37585990 256 0
Rb QuiescentGSE19898 37562666 37562831 165 0
Rb QuiescentGSE19898 37585520 37585933 413 0
Rb SenescentGSE19898 37585565 37586017 452 0
Rb shRbQuiescentGSE19898 37585633 37585868 235 0
Rb shRbSenescenceGSE19898 37585621 37585983 362 0
TFAP2C MCF7GSE21234 37566576 37567219 643 0
hScc1 BcellGSE12603 37585954 37587175 1221 0
p130 QuiescentGSE19898 37585745 37585950 205 0
p130 SenescentGSE19898 37585625 37585993 368 0
p130 shRbSenescentGSE19898 37585676 37585922 246 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