AutismKB 2.0

Annotation Detail for KCNH5


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Basic Information Top
Gene Symbol:KCNH5 ( EAG2,H-EAG2,Kv10.2 )
Gene Full Name: potassium voltage-gated channel, subfamily H (eag-related), member 5
Band: 14q23.2
Quick LinksEntrez ID:27133; OMIM: 605716; Uniprot ID:KCNH5_HUMAN; ENSEMBL ID: ENSG00000140015; HGNC ID: 6254
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
403N-linked (GlcNAc...) (Potential).
437Selectivity filter (By similarity).
Location(AA) Modifications Resource
403N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
24Phosphoserine(PKA)HMM predict
24Phosphoserine(CAMK2)HMM predict
101N-linkedHMM predict
157Phosphothreonine(PKC)HMM predict
170N-linkedHMM predict
202Phosphothreonine(MAPK)HMM predict
373SulfotyrosineHMM predict
373Phosphotyrosine(INSR)HMM predict
428O-linkedHMM predict
466N-linkedHMM predict
663N-linkedHMM predict
669N-linkedHMM predict
680Phosphoserine(PKG)HMM predict
743N-linkedHMM predict
750O-linkedHMM predict
751O-linkedHMM predict
751O-linkedHMM predict
754O-linkedHMM predict
767Phosphotyrosine(Jak)HMM predict
799Phosphoserine(CDC2)HMM predict
830N-linkedHMM predict
846Phosphoserine(CK2)HMM predict
847Phosphoserine(CK1)HMM predict
849Phosphoserine(CK1)HMM predict
852Phosphoserine(CK1)HMM predict
861Phosphothreonine(PKA)HMM predict
863Phosphoserine(IKK)HMM predict
952Phosphoserine(IKK)HMM predict
952Phosphoserine(CDC2)HMM predict
972Phosphoserine(CK1)HMM predict
978Phosphoserine(IKK)HMM predict
978Phosphoserine(ATM)HMM predict
981Phosphoserine(ATM)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_139318
  • Location:chr14 62243699-62581707
  • strand:-
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 62228475 62229218 743 14853
FOXA1 MCF7GSE15244 62226327 62226805 478 17134
FoxA1 MCF7MACSdata 62226251 62226509 258 17320
FoxA1 MCF7MACSdata 62228589 62229018 429 14896
Nanog ESGSE20650 62232624 62233381 757 10697
P300 T0-glioblastomaGSE21026 62228365 62229227 862 14904
P300 T30-glioblastomaGSE21026 62228393 62229086 693 14960
TFAP2C MCF7GSE21234 62228139 62228977 838 15142
p63 keratinocytesGSE17611 62228280 62229321 1041 14899
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER E2-MCF7GSE14664 62280120 62280188 68 0
ER E2-MCF7GSE14664 62299874 62299916 42 0
ER E2-MCF7GSE14664 62416122 62416154 32 0
ER E2-MCF7GSE14664 62523483 62523518 35 0
ER E2-MCF7GSE14664 62565359 62565396 37 0
ER Fulvestrant-MCF7GSE14664 62511448 62511484 36 0
Nanog ESGSE20650 62425769 62426183 414 0
Nanog hESGSE18292 62471063 62471432 369 0
Nanog hESGSE18292 62566639 62566885 246 0
Oct1 H2O2-HelaGSE14283 62279762 62279790 28 0
Oct1 H2O2-HelaGSE14283 62370127 62370161 34 0
Oct1 H2O2-HelaGSE14283 62392352 62392384 32 0
Oct1 H2O2-HelaGSE14283 62481821 62481861 40 0
Oct1 H2O2-HelaGSE14283 62481971 62481997 26 0
Oct1 H2O2-HelaGSE14283 62546608 62546649 41 0
Oct1 H2O2-HelaGSE14283 62569959 62569992 33 0
Oct1 HelaGSE14283 62256165 62256215 50 0
Oct1 HelaGSE14283 62299877 62299911 34 0
Oct1 HelaGSE14283 62302999 62303040 41 0
Oct1 HelaGSE14283 62307086 62307116 30 0
Oct1 HelaGSE14283 62362707 62362740 33 0
Oct1 HelaGSE14283 62370128 62370161 33 0
Oct1 HelaGSE14283 62392350 62392387 37 0
Oct1 HelaGSE14283 62430913 62430947 34 0
Oct1 HelaGSE14283 62478568 62478625 57 0
Oct1 HelaGSE14283 62481822 62481861 39 0
Oct1 HelaGSE14283 62481965 62481998 33 0
Oct1 HelaGSE14283 62502064 62502103 39 0
Oct1 HelaGSE14283 62511448 62511490 42 0
Oct1 HelaGSE14283 62523487 62523522 35 0
Oct1 HelaGSE14283 62543876 62543951 75 0
Oct1 HelaGSE14283 62546608 62546651 43 0
Oct1 HelaGSE14283 62548896 62548936 40 0
Oct1 HelaGSE14283 62569957 62569991 34 0
Oct4 ESGSE20650 62425702 62426150 448 0
STAT1 IFNSISSRdata 62457659 62458409 750 0
hScc1 CdLSGSE12603 62576260 62576636 376 0
p63 keratinocytesGSE17611 62271129 62271943 814 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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