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Crybb2
Gene Detail
Symbol

Name
ID
Crybb2
crystallin, beta B2
MGI:88519
Synonyms
Aey2, betaB2-crystallin, Cryb-2
Feature Type
protein coding gene
Genetic Map
Chromosome 5
55.38 cM
Detailed Genetic Map ± 1 cM


Mapping data(9)
Sequence Map
Chr5:113058258-113070117 bp, - strand
From VEGA annotation of GRCm38

  11860 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:420  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Protein SuperFamily: beta/gamma crystallins
Gene Tree: Crybb2

Human
homologs
Human Homolog CRYBB2, crystallin, beta B2
NCBI Gene ID 1415
neXtProt AC  NX_P43320
Human Synonyms  CCA2, CRYB2, CRYB2A, CTRCT3, D22S665
Human Chr (Location)  22q11.23; chr22:25212828-25231869 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human CRYBB2
Mutations,
alleles, and
phenotypes
All mutations/alleles(7) : Chemically induced (ENU)(2) Spontaneous(2) Targeted(3)
Incidental mutations (data from Mutagenetix , APF )
 
Mutations in this gene cause progressive lens cataracts discernable at 12-15 days of age as mild anterior or cortical opacity and progressing to total opacity by 6-12 weeks of age.
 
Human Diseases Modeled Using Mouse Crybb2 (1)    Alleles Annotated to Human Diseases(3)   
Interactions
Crybb2 interacts with 17 markers (Mir210, Mir302b, Mir302d, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (5 annotations)
Process camera-type eye development, visual perception
Function identical protein binding, protein homodimerization activity, ...
External Resources: FuncBase
Expression
Literature Summary: (9 records)
Data Summary: Results (13)    Tissues (3)    Images (2)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 1
RT-PCR 12
cDNA source data(8)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(11) Genomic(1) cDNA(8) Primer pair(1) Other(1)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000021314 (Evidence)
Ensembl Gene ModelENSMUSG00000042240 (Evidence)
Entrez Gene12961 (Evidence)
UniGene1215
DFCITC1582676
DoTSDT.55153377
NIA Mouse Gene IndexU026584
PDB1E7N
Consensus CDS ProjectCCDS19546.1
International Mouse Knockout Project StatusCrybb2
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000021314 VEGA Gene Model | MGI Sequence Detail 11860 C57BL/6J ±  kb
transcript OTTMUST00000050531 VEGA | MGI Sequence Detail 906 Not Applicable 
polypeptide OTTMUSP00000023602 VEGA | MGI Sequence Detail 205 Not Applicable 

For the selected sequences
All sequences(32) RefSeq(10) UniProt(1)
Polymorphisms
RFLP(4) : SNPs within 2kb(125 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR001064 Beta/gamma crystallin
InterPro IPR011024 Gamma-crystallin-related
Protein Ontology PR:000005912 beta-crystallin B2
References
(Earliest) J:6293 Kador PF, et al., Philly mouse: a new model of hereditary cataract. Exp Eye Res. 1980 Jan;30(1):59-68
(Latest) J:201986 Sun M, et al., Crybb2 coding for betaB2-crystallin affects sensorimotor gating and hippocampal function. Mamm Genome. 2013 Oct;24(9-10):333-48
All references(52)
Disease annotation references (3)
Other
accession IDs
MGD-MRK-13292, MGD-MRK-2166, MGD-MRK-2168, MGI:97574

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
12/09/2014
MGI 5.20
The Jackson Laboratory