AutismKB 2.0

Annotation Details for BCKDK


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Basic Information Top
Gene Symbol:BCKDK ( - )
Gene Full Name: branched chain ketoacid dehydrogenase kinase
Band: 16p11.2
Quick LinksEntrez ID:10295; OMIM: NA; Uniprot ID:BCKD_HUMAN; ENSEMBL ID: ENSG00000103507; HGNC ID: 16902
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005739IDA-mitochondrion20833797
GO:0005739TAS-mitochondrion11839747
GO:0005759TAS-mitochondrial matrix-
GO:0005947ISS-mitochondrial alpha-ketoglutarate dehydrogenase complex-
GO:0005947TAS-mitochondrial alpha-ketoglutarate dehydrogenase complex11839747
GO ID Evidence Qualifier GO_term References
GO:0004674ISS-protein serine/threonine kinase activity-
GO:0005515IPI-protein binding18985028
GO:0005524ISS-ATP binding-
GO:0016301TAS-kinase activity11839747
GO:0047323TAS-[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity-
GO ID Evidence Qualifier GO_term References
GO:0006468IEA-protein phosphorylation-
GO:0009063NAS-cellular amino acid catabolic process2403034
GO:0009083ISS-branched-chain amino acid catabolic process-
GO:0009083TAS-branched-chain amino acid catabolic process11839747
GO:0016310ISS-phosphorylation-
GO:0016310TAS-phosphorylation11839747
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
BCKDKBCKDHA11558317353931 Affinity Capture-MS
BCKDKBCKDHA10706517353931 Affinity Capture-MS
BCKDKRTCD111558317353931 Affinity Capture-MS
BCKDKRTCD111418717353931 Affinity Capture-MS
FAM98BBCKDK11558317353931 Affinity Capture-MS
FAM98BBCKDK12966117353931 Affinity Capture-MS
CAB39BCKDK11969617353931 Affinity Capture-MS
CAB39BCKDK11558317353931 Affinity Capture-MS
RNF219BCKDK11558317353931 Affinity Capture-MS
RNF219BCKDK12273617353931 Affinity Capture-MS
CAB39LBCKDK12355217353931 Affinity Capture-MS
CAB39LBCKDK11558317353931 Affinity Capture-MS
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1276121
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

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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