AutismKB 2.0

Annotation Details for CRYBB2


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Basic Information Top
Gene Symbol:CRYBB2 ( CCA2,CRYB2,CRYB2A,D22S665 )
Gene Full Name: crystallin, beta B2
Band: 22q11.23
Quick LinksEntrez ID:1415; OMIM: 123620; Uniprot ID:CRBB2_HUMAN; ENSEMBL ID: ENSG00000100058; HGNC ID: 2398
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
No data
GO ID Evidence Qualifier GO_term References
GO:0005198NAS-structural molecule activity8224918
GO:0005212IEA-structural constituent of eye lens-
GO:0042802IPI-identical protein binding16319073
GO:0042803IEA-protein homodimerization activity-
GO ID Evidence Qualifier GO_term References
GO:0007601IEA-visual perception-
GO:0043010IEA-camera-type eye development-
GO:0050896IEA-response to stimulus-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
CRYBB2CRYAA10779911700327 Affinity Capture-Western; Two-hybrid
CRYBB2CRYAA10780511700327 Affinity Capture-Western; Two-hybrid
CRYBB2CRYAB10780011700327 Affinity Capture-Western; Two-hybrid
CRYBB2CRYAB10780511700327 Affinity Capture-Western; Two-hybrid
CRYGCCRYBB210780511700327 Affinity Capture-Western; Two-hybrid
CRYGCCRYBB210781011700327 Affinity Capture-Western; Two-hybrid
HSPB1CRYBB210780511700327 Affinity Capture-Western; Two-hybrid
HSPB1CRYBB210954711700327 Affinity Capture-Western; Two-hybrid
CRYBB2CRYBB210780511700327 Two-hybrid
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:88519
  • 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