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
177241702007Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8.64
168913142006Glutamine deamidation destabilizes human gammaD-crystallin and lowers the kinetic barrier to unfolding.58
160466262005Interdomain side-chain interactions in human gammaD crystallin influencing folding and stability.52
157224422005Contributions of hydrophobic domain interface interactions to the folding and stability of human gammaD-crystallin.48
154516712004The P23T cataract mutation causes loss of solubility of folded gammaD-crystallin.46
223281562012Two-dimensional IR spectroscopy and segmental 13C labeling reveals the domain structure of human γD-crystallin amyloid fibrils.45
157097612005Decrease in protein solubility and cataract formation caused by the Pro23 to Thr mutation in human gamma D-crystallin.44
179058302007Folding and stability of the isolated Greek key domains of the long-lived human lens proteins gammaD-crystallin and gammaS-crystallin.39
126768972003Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts.36
193585622009Mechanism of the very efficient quenching of tryptophan fluorescence in human gamma D- and gamma S-crystallins: the gamma-crystallin fold may have evolved to protect tryptophan residues from ultraviolet photodamage.36

Citation

Dessen P

CRYGD (crystallin gamma D)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62112/crygd-(crystallin-gamma-d)