• Gene id: 1415

Gene Summary

• Gene Symbol: CRYBB2   Gene   UCSC   Ensembl
• Aliases: CCA2, CRYB2, CRYB2A, CTRCT3, D22S665
• Gene name: crystallin beta B2
• Alternate names: beta-crystallin B2, CTA-221G9.7, beta-B2 crystallin, beta-crystallin Bp, eye lens structural protein,
• Gene location: 22q11.23 (25211659: 25231868)     Exons: 7     NC_000022.11
• Gene summary(Entrez): Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells l
• OMIM: 613323

Protein Summary

• Protein general information: P43320  
  • Name: Beta crystallin B2 (Beta B2 crystallin) (Beta crystallin Bp)
  • Length: 205  
  • Mass: 23380
• Sequence:

  MASDHQTQAGKPQSLNPKIIIFEQENFQGHSHELNGPCPNLKETGVEKAGSVLVQAGPWVGYEQANCKGEQFVFE
  KGEYPRWDSWTSSRRTDSLSSLRPIKVDSQEHKIILYENPNFTGKKMEIIDDDVPSFHAHGYQEKVSSVRVQSGT
  WVGYQYPGYRGLQYLLEKGDYKDSSDFGAPHPQVQSVRRIRDMQWHQRGAFHPSN

• Structural information:
  • Protein Domains: (17..5-)
    'Greek (/note="Beta/gamma-crystallin)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00028-)
    (57..10-)
    'Greek (/note="Beta/gamma-crystallin)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00028-)
    (107..14-)
    (/note="Beta/-)
  • Interpro: IPR001064  IPR033058  IPR011024  
  • Prosite: PS50915
  • PDB: 1YTQ
  • PDBsum: 1YTQ
  • STRING: ENSP00000381273
• Other Databases: GeneCards:  CRYBB2  Malacards:  CRYBB2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007601	visual perception	IBA	biological process
GO:0002088	lens development in camera-type eye	IBA	biological process
GO:0005212	structural constituent of eye lens	IBA	molecular function
GO:0007601	visual perception	IEA	biological process
GO:0005212	structural constituent of eye lens	IEA	molecular function
GO:0050896	response to stimulus	IEA	biological process
GO:0007601	visual perception	IEA	biological process
GO:0005212	structural constituent of eye lens	IEA	molecular function
GO:0005198	structural molecule activity	NAS	molecular function
GO:0007601	visual perception	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0042802	identical protein binding	IEA	molecular function
GO:0005212	structural constituent of eye lens	IEA	molecular function
GO:0043010	camera-type eye development	IEA	biological process
GO:0007601	visual perception	IEA	biological process
GO:0043010	camera-type eye development	IEA	biological process

Diseases

Associated diseases	References
Cataract	KEGG:H01202
Cataract	KEGG:H01202
Cataract	PMID:11424921
Cryptorchidism	MIK: 28606200
Reduced fertility	MIK: 22948125

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
22948125	Reduced fertility				Male infertility