• Gene id: 1418

Gene Summary

• Gene Symbol: CRYGA   Gene   UCSC   Ensembl
• Aliases: CRY-g-A, CRYG1, CRYG5
• Gene name: crystallin gamma A
• Alternate names: gamma-crystallin A, crystallin, gamma 1, gamma-crystallin 5,
• Gene location: 2q33.3 (208163588: 208160739)     Exons: 3     NC_000002.12
• 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: 123660

Protein Summary

• Protein general information: P11844  
  • Name: Gamma crystallin A (Gamma A crystallin) (Gamma crystallin 5)
  • Length: 174  
  • Mass: 20877
• Sequence:

  MGKITFYEDRDFQGRCYNCISDCPNLRVYFSRCNSIRVDSGCWMLYERPNYQGHQYFLRRGKYPDYQHWMGLSDS
  VQSCRIIPHTSSHKLRLYERDDYRGLMSELTDDCACVPELFRLPEIYSLHVLEGCWVLYEMPNYRGRQYLLRPGD
  YRRYHDWGGADAKVGSLRRVTDLY

• Structural information:
  • Protein Domains: (2..4-)
    'Greek (/note="Beta/gamma-crystallin)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00028-)
    (41..8-)
    'Greek (/note="Beta/gamma-crystallin)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00028-)
    (88..12-)
    (/note="Beta/gam-)
  • Interpro: IPR001064  IPR011024  
  • Prosite: PS50915
  • PDB: 1LER
  • PDBsum: 1LER
  • STRING: ENSP00000302105
• Other Databases: GeneCards:  CRYGA  Malacards:  CRYGA

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:0005212	structural constituent of eye lens	IEA	molecular function
GO:0002088	lens development in camera-type eye	IEA	biological process
GO:0002088	lens development in camera-type eye	IEA	biological process
GO:0001654	eye development	IEA	biological process
GO:0007601	visual perception	NAS	biological process
GO:0005212	structural constituent of eye lens	NAS	molecular function
GO:0005212	structural constituent of eye lens	NAS	molecular function
GO:0007601	visual perception	NAS	biological process
GO:0005575	cellular_component	ND	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq