CRYBA1 (crystallin beta A1)

2014-11-01  

Identity

HGNC
CRYBA1
LOCATION
17q11.2
LOCUSID
1411
ALIAS
CRYB1,CTRCT10
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 1411
MIM: 123610
HGNC: 2394
Ensembl: ENSG00000108255

Variants:

dbSNP: 1411
ClinVar: 1411
TCGA: ENSG00000108255
COSMIC: CRYBA1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000108255ENST00000225387P05813
ENSG00000108255ENST00000484605J3QRT1

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
338272962022A novel missense mutation of CRYBA1 in a northern Chinese family with inherited coronary cataract with blue punctate opacities.2
344893392022Cataract-causing G91del mutant destabilised βA3 heteromers formation linking with structural stability and cellular viability.1
338272962022A novel missense mutation of CRYBA1 in a northern Chinese family with inherited coronary cataract with blue punctate opacities.2
344893392022Cataract-causing G91del mutant destabilised βA3 heteromers formation linking with structural stability and cellular viability.1
344195372021Pathogenic mechanism of congenital cataract caused by the CRYBA1/A3-G91del variant and related intervention strategies.4
344195372021Pathogenic mechanism of congenital cataract caused by the CRYBA1/A3-G91del variant and related intervention strategies.4
314880692019The identification and characterization of the p.G91 deletion in CRYBA1 in a Chinese family with congenital cataracts.4
314880692019The identification and characterization of the p.G91 deletion in CRYBA1 in a Chinese family with congenital cataracts.4
293647382018Mutation Analysis of Families with Autosomal Dominant Congenital Cataract: A Recurrent Mutation in the CRYBA1/A3 Gene Causing Congenital Nuclear Cataract.3
293647382018Mutation Analysis of Families with Autosomal Dominant Congenital Cataract: A Recurrent Mutation in the CRYBA1/A3 Gene Causing Congenital Nuclear Cataract.3
260221482016βA3/A1-crystallin and persistent fetal vasculature (PFV) disease of the eye.8
268516582016Human βA3/A1-crystallin splicing mutation causes cataracts by activating the unfolded protein response and inducing apoptosis in differentiating lens fiber cells.16
281205892016Identification of a De Novo 3bp Deletion in CRYBA1/A3 Gene in Autosomal Dominant Congenital Cataract.8
260221482016βA3/A1-crystallin and persistent fetal vasculature (PFV) disease of the eye.8
268516582016Human βA3/A1-crystallin splicing mutation causes cataracts by activating the unfolded protein response and inducing apoptosis in differentiating lens fiber cells.16

Citation

Dessen P

CRYBA1 (crystallin beta A1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62101/gene-fusions-explorer/gene-fusions/js/web-card-_common.js