CRYBA4 (crystallin beta A4)

2014-11-01  

Identity

HGNC
CRYBA4
LOCATION
22q12.1
LOCUSID
1413
ALIAS
CTRCT23,CYRBA4,MCOPCT4
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 1413
MIM: 123631
HGNC: 2396
Ensembl: ENSG00000196431

Variants:

dbSNP: 1413
ClinVar: 1413
TCGA: ENSG00000196431
COSMIC: CRYBA4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000196431ENST00000354760P53673
ENSG00000196431ENST00000354760A0A097PIJ6

Expression (GTEx)

0
1
2
3
4
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
169608062006CRYBA4, a novel human cataract gene, is also involved in microphthalmia.47
205776562010A missense mutation in CRYBA4 associated with congenital cataract and microcornea.20
200579062009Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma.11
282725382017Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract.6
227921422012Association of high myopia with crystallin beta A4 (CRYBA4) gene polymorphisms in the linkage-identified MYP6 locus.4
319352762020In silico analysis and high-risk pathogenic phenotype predictions of non-synonymous single nucleotide polymorphisms in human Crystallin beta A4 gene associated with congenital cataract.0

Citation

Dessen P

CRYBA4 (crystallin beta A4)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62103/cryba4