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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

HCOP human homology predictions: CRYBB2
Protein SuperFamily: beta/gamma crystallins
Gene Tree: Crybb2

Human
homologs
CRYBB2, crystallin, beta B2
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 1415
neXtProt AC: NX_P43320

Human Synonyms: CCA2, CRYB2, CRYB2A, CTRCT3, D22S665

Human Chr (Location): 22q11.23; chr22:25211670-25231869 (+)  GRCh38.p2

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 in Mice Using Crybb2 (1)    Mutations 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)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: ZFIN crybb2    NEW 
Molecular
reagents
All nucleic(11) Genomic(1) cDNA(8) Primer pair(1) Other(1)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000021314 (Evidence)
Ensembl Gene Model ENSMUSG00000042240 (Evidence)
Entrez Gene 12961 (Evidence)
UniGene 1215
DFCI TC1582676
DoTS DT.55153377
NIA Mouse Gene Index U026584
PDB 1E7N
Consensus CDS Project CCDS19546.1
International Mouse Phenotyping Consortium Status Crybb2
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:220082 Gao Q, et al., Crybb2 deficiency impairs fertility in female mice. Biochem Biophys Res Commun. 2014 Oct 10;453(1):37-42
All references(50)
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
06/23/2015
MGI 5.22
The Jackson Laboratory