CRYBB2 (crystallin beta B2)

2015-08-01  

Identity

HGNC
CRYBB2
LOCATION
22q11.23
LOCUSID
1415
ALIAS
CCA2,CRYB2,CRYB2A,CTRCT3,D22S665
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 1415
MIM: 123620
HGNC: 2398
Ensembl: ENSG00000244752

Variants:

dbSNP: 1415
ClinVar: 1415
TCGA: ENSG00000244752
COSMIC: CRYBB2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000244752ENST00000398215P43320
ENSG00000244752ENST00000398215R4UMM2
ENSG00000244752ENST00000651629P43320
ENSG00000244752ENST00000651629R4UMM2

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 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
165195092006Deamidation in human lens betaB2-crystallin destabilizes the dimer.38
154520672004Mutation analysis of congenital cataracts in Indian families: identification of SNPS and a new causative allele in CRYBB2 gene.21
161799072005Progressive polymorphic congenital cataract caused by a CRYBB2 mutation in a Chinese family.21
191907322009Deamidation alters interactions of beta-crystallins in hetero-oligomers.21
210310212010Molecular analysis of cataract families in India: new mutations in the CRYBB2 and GJA3 genes and rare polymorphisms.21
184493772008Nonsense mutation in the CRYBB2 gene causing autosomal dominant progressive polymorphic congenital coronary cataracts.19
218777232011Simultaneous stereoinversion and isomerization at the Asp-4 residue in βB2-crystallin from the aged human eye lenses.17
172342672007Gene conversion mutation in crystallin, beta-B2 (CRYBB2) in a Chilean family with autosomal dominant cataract.16
214029922011Novel beta-crystallin gene mutations in Chinese families with nuclear cataracts.16
176530362007Mutation analysis in a German family identified a new cataract-causing allele in the CRYBB2 gene.15

Citation

Dessen P

CRYBB2 (crystallin beta B2)

Atlas Genet Cytogenet Oncol Haematol. 2015-08-01

Online version: http://atlasgeneticsoncology.org/gene/55362/crybb2