AutismKB 2.0

Annotation Details for CD320


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Basic Information Top
Gene Symbol:CD320 ( 8D6,8D6A,TCBLR )
Gene Full Name: CD320 molecule
Band: 19p13.2
Quick LinksEntrez ID:51293; OMIM: 606475; Uniprot ID:CD320_HUMAN; ENSEMBL ID: ENSG00000167775; HGNC ID: 16692
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005783IDA-endoplasmic reticulum-
GO:0005886IDA-plasma membrane18779389
GO:0005886TAS-plasma membrane-
GO:0005887IDA-integral component of plasma membrane10727470
GO:0010008TAS-endosome membrane-
GO:0016020IDA-membrane19946888
GO:0070062IDA-extracellular exosome23376485
GO ID Evidence Qualifier GO_term References
GO:0005509IDA-calcium ion binding27411955
GO:0005515IPI-protein binding27411955
GO:0008083IEA-growth factor activity-
GO:0015235TAS-cobalamin transporter activity-
GO:0031419IDA-cobalamin binding18779389
GO ID Evidence Qualifier GO_term References
GO:0009235TAS-cobalamin metabolic process-
GO:0015889IMP-cobalamin transport18779389
GO:0030656IEA-regulation of vitamin metabolic process-
GO:0030890IMP-positive regulation of B cell proliferation10727470
GO:0031296IMP-B cell costimulation10727470
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1860083
  • Data Attributes: HomoloGene calculated
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