CRYBA2 (crystallin beta A2)

2014-11-01  

Identity

HGNC
CRYBA2
LOCATION
2q35
LOCUSID
1412
ALIAS
CTRCT42
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 1412
MIM: 600836
HGNC: 2395
Ensembl: ENSG00000163499

Variants:

dbSNP: 1412
ClinVar: 1412
TCGA: ENSG00000163499
COSMIC: CRYBA2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000163499ENST00000295728P53672
ENSG00000163499ENST00000295728A0A024R429
ENSG00000163499ENST00000392096P53672
ENSG00000163499ENST00000392096A0A024R429
ENSG00000163499ENST00000453769C9JDH2

Expression (GTEx)

0
5
10
15
20
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
205466122010The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.19
234969652013Cell stress molecules in the skeletal muscle of GNE myopathy.6
235087802013Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes.0

Citation

Dessen P

CRYBA2 (crystallin beta A2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62102/cryba2