CRYBA1 (crystallin beta A1)

2014-11-01 Affiliation

Identity

HGNC

CRYBA1

LOCATION

17q11.2

LOCUSID

1411

ALIAS

CRYB1,CTRCT10

FUSION GENES

Show Gene Fusions

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: 1411
MIM: 123610
HGNC: 2394
Ensembl: ENSG00000108255

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000108255	ENST00000225387	P05813
ENSG00000108255	ENST00000484605	J3QRT1

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
33827296	2022	A novel missense mutation of CRYBA1 in a northern Chinese family with inherited coronary cataract with blue punctate opacities.	2
34489339	2022	Cataract-causing G91del mutant destabilised βA3 heteromers formation linking with structural stability and cellular viability.	1
33827296	2022	A novel missense mutation of CRYBA1 in a northern Chinese family with inherited coronary cataract with blue punctate opacities.	2
34489339	2022	Cataract-causing G91del mutant destabilised βA3 heteromers formation linking with structural stability and cellular viability.	1
34419537	2021	Pathogenic mechanism of congenital cataract caused by the CRYBA1/A3-G91del variant and related intervention strategies.	4
34419537	2021	Pathogenic mechanism of congenital cataract caused by the CRYBA1/A3-G91del variant and related intervention strategies.	4
31488069	2019	The identification and characterization of the p.G91 deletion in CRYBA1 in a Chinese family with congenital cataracts.	4
31488069	2019	The identification and characterization of the p.G91 deletion in CRYBA1 in a Chinese family with congenital cataracts.	4
29364738	2018	Mutation Analysis of Families with Autosomal Dominant Congenital Cataract: A Recurrent Mutation in the CRYBA1/A3 Gene Causing Congenital Nuclear Cataract.	3
29364738	2018	Mutation Analysis of Families with Autosomal Dominant Congenital Cataract: A Recurrent Mutation in the CRYBA1/A3 Gene Causing Congenital Nuclear Cataract.	3
26022148	2016	βA3/A1-crystallin and persistent fetal vasculature (PFV) disease of the eye.	8
26851658	2016	Human βA3/A1-crystallin splicing mutation causes cataracts by activating the unfolded protein response and inducing apoptosis in differentiating lens fiber cells.	16
28120589	2016	Identification of a De Novo 3bp Deletion in CRYBA1/A3 Gene in Autosomal Dominant Congenital Cataract.	8
26022148	2016	βA3/A1-crystallin and persistent fetal vasculature (PFV) disease of the eye.	8
26851658	2016	Human 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/deep-insight-explorer/haematological-explorer/css/template-nav.css