AutismKB 2.0

Annotation Details for CLTCL1


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Basic Information Top
Gene Symbol:CLTCL1 ( CHC22,CLH22,CLTCL,CLTD,FLJ36032 )
Gene Full Name: clathrin, heavy chain-like 1
Band: 22q11.21
Quick LinksEntrez ID:8218; OMIM: 601273; Uniprot ID:CLH2_HUMAN; ENSEMBL ID: ENSG00000070371,ENSG00000249108; HGNC ID: 2093
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005769IDANOTearly endosome20065094
GO:0005770IDA-late endosome20065094
GO:0005802IDA-trans-Golgi network19509056
GO:0005819IDA-spindle19509056
GO:0005829TAS-cytosol-
GO:0005886IDANOTplasma membrane20065094
GO:0005905IDA-clathrin-coated pit19509056
GO:0016020IDA-membrane19946888
GO:0030130IEA-clathrin coat of trans-Golgi network vesicle-
GO:0030135IDA-coated vesicle19509056
GO:0030136IDA-clathrin-coated vesicle19478182
GO:0055037IDANOTrecycling endosome20065094
GO:0070062IDA-extracellular exosome23533145
GO:0071439IEA-clathrin complex-
GO:0097443IDA-sorting endosome20065094
GO ID Evidence Qualifier GO_term References
GO:0004871TAS-signal transducer activity8844170
GO:0005198IEA-structural molecule activity-
GO:0005515IPI-protein binding19478182
GO:0032051IEA-clathrin light chain binding-
GO ID Evidence Qualifier GO_term References
GO:0000278IDA-mitotic cell cycle19509056
GO:0000278IDANOTmitotic cell cycle20065094
GO:0006886IEA-intracellular protein transport-
GO:0006898IDA-receptor-mediated endocytosis19509056
GO:0007165IEA-signal transduction-
GO:0009653TAS-anatomical structure morphogenesis8733128
GO:0042147IMP-retrograde transport, endosome to Golgi20065094
GO:0046326IMP-positive regulation of glucose import19478182
GO:0048268IEA-clathrin coat assembly-
GO:0061024TAS-membrane organization-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
SNX5CLTCL111802215133132 Affinity Capture-Western; Two-hybrid
SNX5CLTCL111385415133132 Affinity Capture-Western; Two-hybrid
No data
No data
AlzGene, PDGene and SZGene Top
No data
No data
Gene Symbol Poly Names Gene overview in SZGene
CLTCL1CLTCL1_3681, CLTCL1_4043, CLTCL1_933 Gene overview in SZGene
Animal Model 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


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