CRYGC (crystallin gamma C)

2014-11-01 Affiliation

Identity

HGNC

CRYGC

LOCATION

2q33.3

LOCUSID

1420

ALIAS

CCL,CRYG3,CTRCT2

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: 1420
MIM: 123680
HGNC: 2410
Ensembl: ENSG00000163254

Variants:

dbSNP: 1420
ClinVar: 1420
TCGA: ENSG00000163254
COSMIC: CRYGC

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000163254	ENST00000282141	P07315
ENSG00000163254	ENST00000282141	A0A0X8GLL6

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
37184593	2023	The Y46D Mutation Destabilizes Dense Packing of the Second Greek Key Pair of Human γC-Crystallin Causing Congenital Nuclear Cataracts.	2
37184593	2023	The Y46D Mutation Destabilizes Dense Packing of the Second Greek Key Pair of Human γC-Crystallin Causing Congenital Nuclear Cataracts.	2
33278449	2021	Cataract-causing mutations L45P and Y46D promote γC-crystallin aggregation by disturbing hydrogen bonds network in the second Greek key motif.	7
33422942	2021	Cataract-causing mutations L45P and Y46D impair the thermal stability of γC-crystallin.	3
33278449	2021	Cataract-causing mutations L45P and Y46D promote γC-crystallin aggregation by disturbing hydrogen bonds network in the second Greek key motif.	7
33422942	2021	Cataract-causing mutations L45P and Y46D impair the thermal stability of γC-crystallin.	3
32811259	2020	A novel CRYGC E128* mutation underlying an autosomal dominant nuclear cataract in a south Indian kindred.	3
32811259	2020	A novel CRYGC E128* mutation underlying an autosomal dominant nuclear cataract in a south Indian kindred.	3
31302914	2019	[Identification of a novel CRYGC mutation in a pedigree affected with congenital cataracts].	2
31302914	2019	[Identification of a novel CRYGC mutation in a pedigree affected with congenital cataracts].	2
28298635	2017	Novel mutations in CRYGC are associated with congenital cataracts in Chinese families.	8
29386872	2017	Mutations in crystallin genes result in congenital cataract associated with other ocular abnormalities.	13
28298635	2017	Novel mutations in CRYGC are associated with congenital cataracts in Chinese families.	8
29386872	2017	Mutations in crystallin genes result in congenital cataract associated with other ocular abnormalities.	13
26165230	2015	Congenital Cataract-Causing Mutation G129C in γC-Crystallin Promotes the Accumulation of Two Distinct Unfolding Intermediates That Form Highly Toxic Aggregates.	10

Citation

Dessen P

CRYGC (crystallin gamma C)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62111/css/favicon/favicon-32x32.png