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 chimpanzee; 1 rhesus macaque; 1 dog; 1 chicken; 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, D22S665
Human Chr (Location)		22q11.23; chr22:25615612-25627836 (+)  GRCh37.p10
Disease Associations		(3) Diseases Associated with Human CRYBB2

Alleles and phenotypes

All alleles(7) : Targeted(3) Spontaneous(2) Chemically induced(2)
 

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)   

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: (8 records)
Data Summary: Results (13)    Tissues (3)    Images (2)
Theiler Stages: 19, 23, 25

Assay Type	Results
RNA in situ	1
RT-PCR	12

cDNA source data(8)
External Resources: Allen Institute   GEO   ArrayExpress

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 Knockout Project Status	Crybb2

Sequences

Length	Strain/Species
genomic	OTTMUSG00000021314	VEGA Gene Model | MGI Sequence Detail	11860	C57BL/6J
transcript	OTTMUST00000050531	VEGA | MGI Sequence Detail	906	Not Applicable
polypeptide	OTTMUSP00000023602	VEGA | MGI Sequence Detail	205	Not Applicable

All sequences(24) RefSeq(2) UniProt(1)

Polymorphisms

RFLP(4) : SNPs(80 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:178731 Xie Q, et al., The Orchestration of Mammalian Tissue Morphogenesis through a Series of Coherent Feed-forward Loops. J Biol Chem. 2011 Dec 16;286(50):43259-71
All references(51)

Other accession IDs

MGD-MRK-13292, MGD-MRK-2166, MGD-MRK-2168, MGI:97574