• Gene id: 1421

Gene Summary

• Gene Symbol: CRYGD   Gene   UCSC   Ensembl
• Aliases: CACA, CCA3, CCP, CRYG4, CTRCT4, PCC, cry-g-D
• Gene name: crystallin gamma D
• Alternate names: gamma-crystallin D, gamma crystallin 4, gamma-D-crystallin,
• Gene location: 2q33.3 (208124523: 208121606)     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: 603717

SNPs

rs397515340

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000006.12   g.43670919_43670921GAA[1]
NC_000006.12   g.43670919_43670921GAA[3]
NC_000006.11   g.43638656_43638658GAA[1]
NC_000006.11   g.43638656_43638658GAA[3]
NG_023436.1   g.30890_30892GAA[1]
NG_023436.1   g.30890_30892GAA[3]
NM_152732.5   c.801_803GAA[1]
NM  

Protein Summary

• Protein general information: P07320  
  • Name: Gamma crystallin D (Gamma D crystallin) (Gamma crystallin 4)
  • Length: 174  
  • Mass: 20738
• Sequence:

  MGKITLYEDRGFQGRHYECSSDHPNLQPYLSRCNSARVDSGCWMLYEQPNYSGLQYFLRRGDYADHQQWMGLSDS
  VRSCRLIPHSGSHRIRLYEREDYRGQMIEFTEDCSCLQDRFRFNEIHSLNVLEGSWVLYELSNYRGRQYLLMPGD
  YRRYQDWGATNARVGSLRRVIDFS

• 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: 1H4A 1HK0 1LD0 2G98 2KFB 2KLJ 4GR7 4JGF 6ETA 6ETC
  • PDBsum: 1H4A 1HK0 1LD0 2G98 2KFB 2KLJ 4GR7 4JGF 6ETA 6ETC
  • DIP: 46208
  • STRING: ENSP00000264376
• Other Databases: GeneCards:  CRYGD  Malacards:  CRYGD

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: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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0034614	cellular response to reactive oxygen species	IDA	biological process
GO:0007601	visual perception	IMP	biological process
GO:0007601	visual perception	IMP	biological process
GO:0002088	lens development in camera-type eye	ISS	biological process
GO:0070306	lens fiber cell differentiation	ISS	biological process
GO:0007601	visual perception	IMP	biological process
GO:0005737	cytoplasm	ISS	cellular component
GO:0005634	nucleus	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005212	structural constituent of eye lens	NAS	molecular function
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: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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0034614	cellular response to reactive oxygen species	IDA	biological process
GO:0007601	visual perception	IMP	biological process
GO:0007601	visual perception	IMP	biological process
GO:0002088	lens development in camera-type eye	ISS	biological process
GO:0070306	lens fiber cell differentiation	ISS	biological process
GO:0007601	visual perception	IMP	biological process
GO:0005737	cytoplasm	ISS	cellular component
GO:0005634	nucleus	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005212	structural constituent of eye lens	NAS	molecular function

Diseases

Associated diseases	References
Cataract	KEGG:H01202
Cataract	KEGG:H01202
Cataract 7	PMID:12676897
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881