CRYGD (crystallin gamma D)

2014-11-01  

Identity

HGNC
CRYGD
LOCATION
2q33.3
LOCUSID
1421
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
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
cerebral cortex
cerebellum
hippocampus
caudate
eye
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

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/teaching-explorer/