AutismKB 2.0

Annotation Details for MCOLN3


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Basic Information Top
Gene Symbol:MCOLN3 ( FLJ11006,FLJ36629,MGC71509,TRP-ML3,TRPML3 )
Gene Full Name: mucolipin 3
Band: 1p22.3
Quick LinksEntrez ID:55283; OMIM: 607400; Uniprot ID:MCLN3_HUMAN; ENSEMBL ID: ENSG00000055732; HGNC ID: 13358
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005737IEA-cytoplasm-
GO:0005886TAS-plasma membrane-
GO:0016021IEA-integral component of membrane-
GO ID Evidence Qualifier GO_term References
GO:0005262TAS-calcium channel activity-
GO ID Evidence Qualifier GO_term References
GO:0007626IEA-locomotory behavior-
GO:0042491IEA-auditory receptor cell differentiation-
GO:0070588TAS-calcium ion transmembrane transport-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1890500
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

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  (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