CRYGD (crystallin gamma D)

2014-11-01 Affiliation

Identity

HGNC

CRYGD

LOCATION

2q33.3

LOCUSID

1421

ALIAS

CACA,CCA3,CCP,CRYG4,CTRCT4,PCC,cry-g-D

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000118231	ENST00000264376	P07320
ENSG00000118231	ENST00000264376	A0A140CTX7

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
37480084	2023	Congenital coralliform cataract is the predominant consequence of a recurrent mutation in the CRYGD gene.	1
37739288	2023	Cataract-causing mutations S78F and S78P of γD-crystallin decrease protein conformational stability and drive aggregation.	1
37480084	2023	Congenital coralliform cataract is the predominant consequence of a recurrent mutation in the CRYGD gene.	1
37739288	2023	Cataract-causing mutations S78F and S78P of γD-crystallin decrease protein conformational stability and drive aggregation.	1
35163513	2022	Insights to Human γD-Crystallin Unfolding by NMR Spectroscopy and Molecular Dynamics Simulations.	0
35163513	2022	Insights to Human γD-Crystallin Unfolding by NMR Spectroscopy and Molecular Dynamics Simulations.	0
33264606	2021	Assessing the Structures and Interactions of γD-Crystallin Deamidation Variants.	9
34537240	2021	Surface Exposed Free Cysteine Suppresses Crystallization of Human γD-Crystallin.	2
33264606	2021	Assessing the Structures and Interactions of γD-Crystallin Deamidation Variants.	9
34537240	2021	Surface Exposed Free Cysteine Suppresses Crystallization of Human γD-Crystallin.	2
32899552	2020	Cataract-Associated New Mutants S175G/H181Q of βΒ2-Crystallin and P24S/S31G of γD-Crystallin Are Involved in Protein Aggregation by Structural Changes.	0
33460241	2020	Increased hydrophobicity of CRYGD p.(Ala159ProfsTer9): Suspected cause of congenital cataracts in a large Chinese family.	1
32899552	2020	Cataract-Associated New Mutants S175G/H181Q of βΒ2-Crystallin and P24S/S31G of γD-Crystallin Are Involved in Protein Aggregation by Structural Changes.	0
33460241	2020	Increased hydrophobicity of CRYGD p.(Ala159ProfsTer9): Suspected cause of congenital cataracts in a large Chinese family.	1
31266635	2019	Kinetic 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/meetings/gene-fusions-explorer/favicon/favicon-16x16.png