CRYGB (crystallin gamma B)

2014-11-01  

Identity

HGNC
CRYGB
LOCATION
2q33.3
LOCUSID
1419
ALIAS
CRYG2,CTRCT39

Other Information

Locus ID:

NCBI: 1419
MIM: 123670
HGNC: 2409
Ensembl: ENSG00000182187

Variants:

dbSNP: 1419
ClinVar: 1419
TCGA: ENSG00000182187
COSMIC: CRYGB

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000182187ENST00000260988P07316

Expression (GTEx)

0
1
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
206216682010Partially folded aggregation intermediates of human gammaD-, gammaC-, and gammaS-crystallin are recognized and bound by human alphaB-crystallin chaperone.29
128763252003Methylation and carbamylation of human gamma-crystallins.18
208006032010Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.12
232889852012Novel crystallin gamma B mutations in a Kuwaiti family with autosomal dominant congenital cataracts reveal genetic and clinical heterogeneity.6
193840132009Analysis of single nucleotide polymorphisms of CRYGA and CRYGB genes in control population of western Indian origin.2
193840132009Analysis of single nucleotide polymorphisms of CRYGA and CRYGB genes in control population of western Indian origin.2
280130062017Glycation of human γB-crystallin: A biophysical investigation.2
145179682003Prediction of possible sites for posttranslational modifications in human gamma crystallins: effect of glycation on the structure of human gamma-B-crystallin as analyzed by molecular modeling.1
219410572011Polymorphisms of the gamma crystallin A and B genes among Indian patients with pediatric cataract.1
265523022015[ALLELIC VARIANT FREQUENCY OF PROMOTER (G(-47)-->A) γ-CRYSTALLIN GENE AFFECTS THE LEVEL OF ITS EXPRESSION IN PLATELETS].0

Citation

Dessen P

CRYGB (crystallin gamma B)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62110/crygb