AutismKB 2.0

Annotation Detail for KCNQ2


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Basic Information Top
Gene Symbol:KCNQ2 ( BFNC,EBN,EBN1,ENB1,HNSPC,KCNA11,KV7.2,KVEBN1 )
Gene Full Name: potassium voltage-gated channel, KQT-like subfamily, member 2
Band: 20q13.33
Quick LinksEntrez ID:3785; OMIM: 602235; Uniprot ID:KCNQ2_HUMAN; ENSEMBL ID: ENSG00000075043; HGNC ID: 6296
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
52Phosphoserine; by PKA.
282Selectivity filter (By similarity).
466Phosphoserine (By similarity).
468Phosphoserine (By similarity).
Location(AA) Modifications Resource
52Phosphoserine (by PKA).Swiss-Prot 53.0
466Phosphoserine (By similarity).Swiss-Prot 53.0
468Phosphoserine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
52Phosphoserine(PKA)HMM predict
118Phosphotyrosine(Jak)HMM predict
127Phosphotyrosine(INSR)HMM predict
151S-palmitoylHMM predict
152S-palmitoylHMM predict
350N-linkedHMM predict
374Phosphoserine(ATM)HMM predict
374O-linkedHMM predict
414Phosphoserine(CDC2)HMM predict
414PhosphoserineHMM predict
416O-linkedHMM predict
419Phosphoserine(CDC2)HMM predict
428S-palmitoylHMM predict
429S-palmitoylHMM predict
434Phosphoserine(PKG)HMM predict
445Phosphoserine(CK1)HMM predict
446Phosphoserine(CDC2)HMM predict
446Phosphoserine(CDK)HMM predict
457Phosphoserine(CDC2)HMM predict
462Phosphothreonine(PKC)HMM predict
468Phosphoserine(PKB)HMM predict
468Phosphoserine(IKK)HMM predict
472Phosphoserine(IKK)HMM predict
476Phosphoserine(CDC2)HMM predict
478Phosphoserine(CDK)HMM predict
507Phosphoserine(CK2)HMM predict
507Phosphoserine(IKK)HMM predict
511Phosphoserine(CK1)HMM predict
533Phosphothreonine(MAPK)HMM predict
558Phosphoserine(PKG)HMM predict
562Phosphotyrosine(INSR)HMM predict
676Phosphoserine(CK1)HMM predict
693Phosphoserine(PKG)HMM predict
694Phosphoserine(CK1)HMM predict
700N-linkedHMM predict
751Phosphoserine(CK1)HMM predict
753Phosphoserine(CK1)HMM predict
755Phosphotyrosine(INSR)HMM predict
771Phosphothreonine(MAPK)HMM predict
787Phosphoserine(CK1)HMM predict
803Phosphoserine(ATM)HMM predict
808Phosphoserine(ATM)HMM predict
841Phosphothreonine(CK2)HMM predict
849S-palmitoylHMM predict
855SerineHMM predict
871ArginineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_004518
  • Location:chr20 61508249-61574436
  • strand:-
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 61516798 61517069 271 0
CTCF G2GSE9613 61524606 61524924 318 0
CTCF G2GSE9613 61531425 61532067 642 0
CTCF G2GSE9613 61534837 61535339 502 0
Nanog ESGSE20650 61511344 61511817 473 0
hScc1 BcellGSE12603 61508374 61509207 833 0
hScc1 BcellGSE12603 61509452 61510734 1282 0
hScc1 BcellGSE12603 61511222 61511566 344 0
hScc1 BcellGSE12603 61515472 61516256 784 0
hScc1 BcellGSE12603 61516728 61517069 341 0
hScc1 BcellGSE12603 61518290 61518843 553 0
hScc1 BcellGSE12603 61519462 61521438 1976 0
hScc1 BcellGSE12603 61522848 61524781 1933 0
hScc1 BcellGSE12603 61529720 61530054 334 0
hScc1 BcellGSE12603 61530851 61532750 1899 0
hScc1 BcellGSE12603 61533491 61534360 869 0
Validated miRNA targets Top
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
16668 EST chr20 61501351 61502112 102 mRNA KCNQ2 chr20 61502010 61574437Sense/Antisense (SA) pairs

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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