AutismKB 2.0

Annotation Details for CRYBB3


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Basic Information Top
Gene Symbol:CRYBB3 ( CATCN2,CRYB3,MGC125772,MGC125773,MGC125774 )
Gene Full Name: crystallin, beta B3
Band: 22q11.23
Quick LinksEntrez ID:1417; OMIM: 123630; Uniprot ID:CRBB3_HUMAN; ENSEMBL ID: ENSG00000100053; HGNC ID: 2400
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
No data
GO ID Evidence Qualifier GO_term References
GO:0005212IEA-structural constituent of eye lens-
GO:0005515IPI-protein binding25416956
GO ID Evidence Qualifier GO_term References
GO:0007601IEA-visual perception-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
SRRM1CRYBB311554416159877 Affinity Capture-MS
SRRM1CRYBB310780716159877 Affinity Capture-MS
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:102717
  • 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


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