CRYGD

Protein identityUniProt · HPA

UniProt accession

P07320

Gene

CRYGD

Ensembl

ENSG00000118231

Chromosome

2

Canonical length

174 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Vesicles,Cytosol

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

174 residues, UniProt reviewed canonical sequence.

>P07320|CRYGD
     1  MGKITLYEDR GFQGRHYECS SDHPNLQPYL SRCNSARVDS GCWMLYEQPN YSGLQYFLRR
    61  GDYADHQQWM GLSDSVRSCR LIPHSGSHRI RLYEREDYRG QMIEFTEDCS CLQDRFRFNE
   121  IHSLNVLEGS WVLYELSNYR GRQYLLMPGD YRRYQDWGAT NARVGSLRRV IDFS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CRYGD can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.25

Highest tissue expression

7.7 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CRYGD.

Disease | AllUniProt

Conditions CRYGD is implicated in, by any mechanism.

• Cataract 4, multiple types (CTRCT4) MIM:115700

Disease | GeneticClinVar

17 pathogenic / likely-pathogenic of 99 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Cataract 4 multiple types
• Aculeiform cataract
• CRYGD-related disorder
• Developmental cataract
• Inborn genetic diseases

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.5

gnomAD pLI

0

gnomAD missense Z

0.08

DepMap mean gene effect

-0.34

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cellular response to reactive oxygen species
• lens development in camera-type eye
• lens fiber cell differentiation
• visual perception

Molecular functions

• structural constituent of eye lens

Cellular components

• cytoplasm
• nucleus

Protein domainsUniProt · Pfam · InterPro

• Beta/gamma crystallin
• Gamma-crystallin-like
• Beta/Gamma-Crystallin
• Beta/Gamma crystallin

KeywordsUniProt

• Cataract
• Eye lens protein
• Repeat
• Sensory transduction
• Vision