CRYGD (crystallin gamma D)

2014-11-01  

Identity

HGNC
LOCATION
2q33.3
LOCUSID
ALIAS
CACA,CCA3,CCP,CRYG4,CTRCT4,PCC,cry-g-D

Other Information

Locus ID:

NCBI: 1421
MIM: 123690
HGNC: 2411
Ensembl: ENSG00000118231

Variants:

dbSNP: 1421
ClinVar: 1421
TCGA: ENSG00000118231
COSMIC: CRYGD

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000118231ENST00000264376P07320
ENSG00000118231ENST00000264376A0A140CTX7

Expression (GTEx)

0
1
2
3
4
5
6
7
8
9

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
374800842023Congenital coralliform cataract is the predominant consequence of a recurrent mutation in the CRYGD gene.1
377392882023Cataract-causing mutations S78F and S78P of γD-crystallin decrease protein conformational stability and drive aggregation.1
374800842023Congenital coralliform cataract is the predominant consequence of a recurrent mutation in the CRYGD gene.1
377392882023Cataract-causing mutations S78F and S78P of γD-crystallin decrease protein conformational stability and drive aggregation.1
351635132022Insights to Human γD-Crystallin Unfolding by NMR Spectroscopy and Molecular Dynamics Simulations.0
351635132022Insights to Human γD-Crystallin Unfolding by NMR Spectroscopy and Molecular Dynamics Simulations.0
332646062021Assessing the Structures and Interactions of γD-Crystallin Deamidation Variants.9
345372402021Surface Exposed Free Cysteine Suppresses Crystallization of Human γD-Crystallin.2
332646062021Assessing the Structures and Interactions of γD-Crystallin Deamidation Variants.9
345372402021Surface Exposed Free Cysteine Suppresses Crystallization of Human γD-Crystallin.2
328995522020Cataract-Associated New Mutants S175G/H181Q of βΒ2-Crystallin and P24S/S31G of γD-Crystallin Are Involved in Protein Aggregation by Structural Changes.0
334602412020Increased hydrophobicity of CRYGD p.(Ala159ProfsTer9): Suspected cause of congenital cataracts in a large Chinese family.1
328995522020Cataract-Associated New Mutants S175G/H181Q of βΒ2-Crystallin and P24S/S31G of γD-Crystallin Are Involved in Protein Aggregation by Structural Changes.0
334602412020Increased hydrophobicity of CRYGD p.(Ala159ProfsTer9): Suspected cause of congenital cataracts in a large Chinese family.1
312666352019Kinetic Stability of Long-Lived Human Lens γ-Crystallins and Their Isolated Double Greek Key Domains.10

Citation

Dessen P

CRYGD (crystallin gamma D)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62112/gene-fusions-explorer/js/meetings/