AutismKB 2.0

Annotation Detail for KCNA5


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Basic Information Top
Gene Symbol:KCNA5 ( ATFB7,HCK1,HK2,HPCN1,KV1.5,MGC117058,MGC117059,PCN1 )
Gene Full Name: potassium voltage-gated channel, shaker-related subfamily, member 5
Band: 12p13.32
Quick LinksEntrez ID:3741; OMIM: 176267; Uniprot ID:KCNA5_HUMAN; ENSEMBL ID: ENSG00000130037; HGNC ID: 6224
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
125N-linked (GlcNAc...) (Potential).
190N-linked (GlcNAc...) (Potential).
414Phosphoserine.
485Selectivity filter (By similarity).
557Phosphoserine; by PKA (Potential).
613PDZ-binding (By similarity).
Location(AA) Modifications Resource
125N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
190N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
346S-palmitoyl cysteine (Potential).Swiss-Prot 53.0
557Phosphoserine (by PKA) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
15Phosphothreonine(PKC)HMM predict
17MethylarginineHMM predict
301O-linkedHMM predict
308O-linkedHMM predict
311O-linkedHMM predict
417Phosphoserine(CK1)HMM predict
543Phosphoserine(ATM)HMM predict
557Phosphoserine(PKG)HMM predict
580Phosphoserine(PKB)HMM predict
607ThreonineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_002234
  • Location:chr12 5023345-5026208
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Nanog hESGSE18292 5006899 5007290 391 16251
hScc1 CdLSGSE12603 5016681 5016924 243 6543
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
hScc1 BcellGSE12603 5023632 5024089 457 0
hScc1 CdLSGSE12603 5023201 5023775 574 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