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Gene : CRYGD Homo sapiens

Name  ? crystallin gamma D Cytological Location  2q33.3
Brief Description  crystallin gamma D
Description  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 lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Gamma-crystallins are a homogeneous group of highly symmetrical, monomeric proteins typically lacking connecting peptides and terminal extensions. They are differentially regulated after early development. Four gamma-crystallin genes (gamma-A through gamma-D) and three pseudogenes (gamma-E, gamma-F, gamma-G) are tandemly organized in a genomic segment as a gene cluster. Whether due to aging or mutations in specific genes, gamma-crystallins have been involved in cataract formation. [provided by RefSeq, Jul 2008]
  • synonyms:
  • crystallin, gamma D,
  • HGNC:2411,
  • OTTHUMG00000132944,
  • cry-g-D,
  • CCA3,
  • CRYG4,
  • PCC,
  • CTRCT4,
  • CCP,
  • CRYGD,
  • NM_006891,
  • CRYG4,
  • CACA,
  • uc002vcn.5
  • identifiers:
  • 1421,
  • ENSG00000118231,
  • CRYGD

Genome feature

Region: gene ? Length: 2918  
Location: 2:208121607-208124524 reverse strand Cyto location: 2q33.3


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Function

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0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

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Expression

Gene(s) --> Significant SNPs (GTex data)

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Gene --> GO terms.

 

Other

0 Pathways

153 SN Ps

5 Cross References

18 Data Sets

34 Homologues

0 Located Features

97 Rna Seq Results