AutismKB 2.0

Annotation Details for COLEC12


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Basic Information Top
Gene Symbol:COLEC12 ( CLP1,NSR2,SCARA4,SRCL )
Gene Full Name: collectin sub-family member 12
Band: 18p11.32
Quick LinksEntrez ID:81035; OMIM: 607621; Uniprot ID:COL12_HUMAN; ENSEMBL ID: ENSG00000158270; HGNC ID: 16016
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005581IEA-collagen trimer-
GO:0005886TAS-plasma membrane-
GO:0016021TAS-integral component of membrane11162630
GO:0030666TAS-endocytic vesicle membrane-
GO:0070062IDA-extracellular exosome23376485
GO ID Evidence Qualifier GO_term References
GO:0005044TAS-scavenger receptor activity11162630
GO:0005534NAS-galactose binding11564734
GO:0008329IDA-signaling pattern recognition receptor activity11564734
GO:0030169IDA-low-density lipoprotein particle binding11564734
GO:0046872IEA-metal ion binding-
GO ID Evidence Qualifier GO_term References
GO:0006898TAS-receptor-mediated endocytosis-
GO:0006910IDA-phagocytosis, recognition11564734
GO:0006952TAS-defense response11162630
GO:0009756NAS-carbohydrate mediated signaling11564734
GO:0034138IMP-toll-like receptor 3 signaling pathway25204797
GO:0045087TAS-innate immune response11564734
GO:0050776TAS-regulation of immune response-
GO:0051260NAS-protein homooligomerization11564734
GO:0060355IMP-positive regulation of cell adhesion molecule production25204797
GO:0071360IMP-cellular response to exogenous dsRNA25204797
GO:0071360IMPNOTcellular response to exogenous dsRNA25204797
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:2152907
  • 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