AutismKB 2.0

Annotation Details for MKL2


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Basic Information Top
Gene Symbol:MKL2 ( DKFZp686J1745,FLJ31823,FLJ45623,MRTF-B,NPD001 )
Gene Full Name: MKL/myocardin-like 2
Band: 16p13.12
Quick LinksEntrez ID:57496; OMIM: 609463; Uniprot ID:MKL2_HUMAN; ENSEMBL ID: ENSG00000186260; HGNC ID: 29819
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005634IBA-nucleus-
GO:0005634IC-nucleus14565952
GO ID Evidence Qualifier GO_term References
GO:0001105IBA-RNA polymerase II transcription coactivator activity-
GO:0003713IDA-transcription coactivator activity14565952
GO:0005515IPI-protein binding12397177
GO:0045296IDA-cadherin binding25468996
GO ID Evidence Qualifier GO_term References
GO:0006366IEA-transcription from RNA polymerase II promoter-
GO:0007517IEA-muscle organ development-
GO:0045844IDA-positive regulation of striated muscle tissue development14565952
GO:0045944IDA-positive regulation of transcription from RNA polymerase II promoter14565952
GO:0051145IBA-smooth muscle cell differentiation-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
MKL2SRF11260014565952 Affinity Capture-Western
MKL2SRF12156314565952 Affinity Capture-Western
MKL2KDM3A12092717991879 Reconstituted Complex
MKL2KDM3A12156317991879 Reconstituted Complex
MKL2MKL212156314565952 Affinity Capture-Western
MKL1MKL212164214565952 Affinity Capture-Western
MKL1MKL212156314565952 Affinity Capture-Western
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:3050795
  • 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