AutismKB 2.0

Annotation Detail for KCNMB3


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Basic Information Top
Gene Symbol:KCNMB3 ( BKBETA3,HBETA3,KCNMB2,KCNMBL,SLOBETA3 )
Gene Full Name: potassium large conductance calcium-activated channel, subfamily M beta member 3
Band: 3q26.32
Quick LinksEntrez ID:27094; OMIM: 605222; Uniprot ID:KCMB3_HUMAN; ENSEMBL ID: ENSG00000171121; HGNC ID: 6287
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
131N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
131N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
35Phosphothreonine(PKA)HMM predict
37SulfotyrosineHMM predict
37Phosphotyrosine(INSR)HMM predict
131N-linkedHMM predict
182N-linkedHMM predict
194Phosphoserine(ATM)HMM predict
246Phosphothreonine(PKC)HMM predict
270ArginineHMM predict
272Phosphoserine(PKG)HMM predict
276AlanineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_171828
  • Location:chr3 180443288-180467531
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 180472717 180472972 255 5313
CTCF G2GSE9613 180478211 180478393 182 10771
CTCF G2GSE9613 180480860 180481080 220 13439
Fos K562GSE19551 180476572 180476987 415 9248
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 180461613 180462013 400 0
CTCF G2GSE9613 180466770 180467100 330 0
H3ac HepG2E 180459372 180461577 2205 0
PHF8 HeLaGSE20725 180461362 180462082 720 0
TAF k562GSE8489 180459515 180461517 2002 0
TFAP2C MCF7GSE21234 180464786 180465403 617 0
hScc1 G2GSE9613 180461696 180462013 317 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