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1415 CRYBB2

1415

CRYBB2

crystallin beta B2

protein-coding

Homo sapiens

基因描述

Type Description
Definition crystallin beta B2

研究结论

Date Results Publications
2021-02-27 13:47:00 Cataract-Associated New Mutants S175G/H181Q of betaBeta2-Crystallin and P24S/S31G of gammaD-Crystallin Are Involved in Protein Aggregation by Structural Changes. 32899552
2020-02-29 11:06:00 Crystallin beta B2 (CRYbetaB2) overexpression in triple-negative breast cancers increases invasive cellular behaviors, tumor growth, IL6 production, immune cell chemoattraction, and the expression of metastasis-associated genes. Combined overexpression of both CRYbetaB2 and the pseudogene, CRYbetaB2P1, is found to suppress cell growth. 31511085
2019-06-01 10:46:00 CRYB2 cataract-associating mutations S31W and R145W destabilize CRYB2 and promote thermal aggregation.The number of Trp fluorophores in CRYB2 is evolutionarily optimized to exquisitely perform their structural roles in the lens. 30219234
2019-03-09 12:37:00 Here we identify the first Taiwanese cerulean cataract family carrying a CRYBB2_Q155X mutation. 29395391
2018-05-26 11:04:00 We examined a cohort of Chinese patients with congenital cataracts and studied the phenotypes and genotypes. Extralenticular abnormalities, such as microcornea and ocular coloboma, can also be found in patients with congenital cataracts. The phenotype of congenital cataracts associated with macular and optic disc coloboma was reported for the first time in this study. 29386872

名称对应

Type IDs
Synonymous CCA2, CRYB2, CRYB2A, CTRCT3, D22S665
Gene
UniProtKB-ID: CRBB2_HUMAN, R4UMM2_HUMAN
UniprotKB: P43320, R4UMM2
UniParc: UPI000013C6A2
EMBL: L10035, U72401, U72400, U72402, Z99916, KR052788, CR456426, KC683809, KR052784, BC069535, KR052790, U72403, U72404
Ensembl: ENSG00000244752
KO: hsa:1415
Nucleutide sequences
EMBL-CDS: AAB39700.1, AAH69535.1, CAG30312.1, AAA16864.1, AKK25305.1, AKK25301.1, AGM34047.1, AKK25302.1
Ensembl_TRS: ENST00000651629, ENST00000398215
Protein sequencees
Ensembl_PRO: ENSP00000381273, ENSP00000498905
RefSeq: XP_011528202.1, XP_006724204.1, NP_000487.1
Others
UniRef100: UniRef100_P43320
UniRef90: UniRef90_P43320
UniRef50: UniRef50_P43320
UniGene: Hs.373074
CCDS: CCDS13831.1

全选

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