AutismKB 2.0

Annotation Detail for KCNH3


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Basic Information Top
Gene Symbol:KCNH3 ( BEC1,ELK2,KIAA1282,Kv12.2 )
Gene Full Name: potassium voltage-gated channel, subfamily H (eag-related), member 3
Band: 12q13.12
Quick LinksEntrez ID:23416; OMIM: 604527; Uniprot ID:KCNH3_HUMAN; ENSEMBL ID: ENSG00000135519; HGNC ID: 6252
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
421N-linked (GlcNAc...) (Potential).
428N-linked (GlcNAc...) (Potential).
436N-linked (GlcNAc...) (Potential).
470Selectivity filter (By similarity).
Location(AA) Modifications Resource
421N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
428N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
436N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
170Phosphoserine(PKG)HMM predict
220S-palmitoylHMM predict
255O-linkedHMM predict
255PhosphoserineHMM predict
388Phosphoserine(CK2)HMM predict
391Phosphoserine(CK2)HMM predict
411Phosphotyrosine(Jak)HMM predict
421N-linkedHMM predict
423Phosphoserine(ATM)HMM predict
428N-linkedHMM predict
431Phosphoserine(CK1)HMM predict
436N-linkedHMM predict
499N-linkedHMM predict
524Phosphotyrosine(INSR)HMM predict
668S-palmitoylHMM predict
717Phosphoserine(CK1)HMM predict
740O-linkedHMM predict
740O-linkedHMM predict
742O-linkedHMM predict
742Phosphoserine(CDC2)HMM predict
750Phosphoserine(CK1)HMM predict
751Phosphoserine(CDC2)HMM predict
751Phosphoserine(MAPK)HMM predict
751O-linkedHMM predict
755O-linkedHMM predict
759O-linkedHMM predict
769Phosphoserine(CDK)HMM predict
769Phosphoserine(CDC2)HMM predict
773Phosphothreonine(PKC)HMM predict
776MethylarginineHMM predict
846Phosphoserine(IKK)HMM predict
851O-linkedHMM predict
852Phosphoserine(CK1)HMM predict
852Phosphoserine(IKK)HMM predict
853Phosphoserine(CDC2)HMM predict
855Phosphoserine(MAPK)HMM predict
855Phosphoserine(ATM)HMM predict
855Phosphoserine(CDC2)HMM predict
855O-linkedHMM predict
864Phosphothreonine(PKC)HMM predict
922O-linkedHMM predict
932Phosphoserine(IKK)HMM predict
958O-linkedHMM predict
982Phosphoserine(ATM)HMM predict
985O-linkedHMM predict
1000O-linkedHMM predict
1010O-linkedHMM predict
1013O-linkedHMM predict
1014Phosphothreonine(CDC2)HMM predict
1014O-linkedHMM predict
1017Phosphoserine(MAPK)HMM predict
1017Phosphoserine(CDC2)HMM predict
1017Phosphoserine(IKK)HMM predict
1017O-linkedHMM predict
1021O-linkedHMM predict
1034Phosphoserine(ATM)HMM predict
1034O-linkedHMM predict
1039O-linkedHMM predict
1040O-linkedHMM predict
1048O-linkedHMM predict
1067S-palmitoylHMM predict
1072Phosphothreonine(PKC)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_012284
  • Location:chr12 48219206-48238343
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 48214863 48215065 202 4243
CTCF G2GSE9613 48216367 48216580 213 2733
CTCF G2GSE9613 48218017 48218585 568 906
H3K27me3 colorectalcancer 48215846 48216580 734 2994
H3K27me3 colorectalcancer 48217480 48217847 367 1543
hScc1 BcellGSE12603 48218110 48218721 611 791
hScc1 CdLSGSE12603 48218721 48219543 822 75
hScc1 G2GSE9613 48218017 48219322 1305 537
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 48233670 48233808 138 0
CTCF CD4SISSRdata 48233670 48233808 138 0
CTCF G2GSE9613 48218874 48219543 669 0
CTCF G2GSE9613 48220529 48221746 1217 0
CTCF G2GSE9613 48224319 48224671 352 0
CTCF G2GSE9613 48225841 48226147 306 0
CTCF G2GSE9613 48228034 48229620 1586 0
CTCF G2GSE9613 48230142 48230682 540 0
CTCF G2GSE9613 48233538 48234135 597 0
CTCF G2GSE9613 48234562 48235082 520 0
CTCF G2GSE9613 48235649 48236574 925 0
ER MCF7GSE19013 48224483 48225399 916 0
H3K27me3 colorectalcancer 48220607 48221603 996 0
Nanog hESGSE18292 48233658 48233928 270 0
RARG MCF7GSE15244 48233788 48234249 461 0
Rb QuiescentGSE19898 48226530 48226690 160 0
TAF HelaGSE8489 48225147 48225425 278 0
TFAP2C MCF7GSE21234 48231651 48232470 819 0
hScc1 BcellGSE12603 48219129 48219722 593 0
hScc1 BcellGSE12603 48233538 48234355 817 0
hScc1 CdLSGSE12603 48233538 48234097 559 0
hScc1 G2GSE9613 48228863 48229545 682 0
hScc1 G2GSE9613 48233538 48234061 523 0
hScc1 G2GSE9613 48235528 48236538 1010 0
hScc1 G2GSE9613 48237357 48238252 895 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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