CRYBB2 (crystallin beta B2)
- symbol:
- CRYBB2
- locus group:
- protein-coding gene
- location:
- 22q11.23
- gene_family:
- alias symbol:
- None
- alias name:
- None
- entrez id:
- 1415
- ensembl gene id:
- ENSG00000244752
- ucsc gene id:
- uc003abp.2
- refseq accession:
- NM_000496
- hgnc_id:
- HGNC:2398
- approved reserved:
- 1991-06-28
Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group, none in the acidic group). Beta-crystallins form aggregates of different sizes and are able to self-associate to form dimers or to form heterodimers with other beta-crystallins. This gene, a beta basic group member, is part of a gene cluster with beta-A4, beta-B1, and beta-B3. A chain-terminating mutation was found to cause type 2 cerulean cataracts. [provided by RefSeq, Jul 2008]
晶状体被分为两大类：分类单元专用，或酶，和无处不在。后者类构成脊椎动物眼透镜的主要的蛋白质，并保持透镜的透明性和折射率。由于镜头中心光纤细胞发育过程中失去它们的原子核，这些晶状体由再保留整个生命，使他们非常稳定的蛋白质。哺乳动物镜头晶状体分为α，β和γ家庭; β和γ晶状体也被认为是一个家族。 α和β家族进一步分成酸性和碱性基团。 4条相同的图案，连接肽和N-和C-末端延伸：七蛋白区域在晶状体存在。 β-内晶状体，最异类，由C末端延伸（存在于碱性基团，没有在酸性基团）的存在下不同。的β-晶状形成不同尺寸的聚集体，并且能够自我结合以形成二聚体或以与其它β-晶状体异二聚体。这个基因，β-碱性基团成员，是与β--A4，β-B1和β-B3的基因簇的一部分。链终止突变被发现导致2型蔚蓝白内障。 [由RefSeq的，2008年7月提供]
基因本体信息
CRYBB2基因（以及对应的蛋白质）的细胞分布位置：
- 质膜
- 细胞质
- 细胞外
- 高尔基体
- 囊泡
- 细胞骨架
- 内质网
- 细胞核
- 内体
- 溶酶体
- 线粒体
CRYBB2基因的本体（GO）信息：
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Cataract, Congenital, Cerulean Type, 2 | 0.32 | 0 | 1 | CLINVAR_CTD_human_MGD |
| Cataract, congenital, cerulean type 1 | 0.240542884 | 2 | 0 | BeFree_CTD_human_ORPHANET |
| Nuclear non-senile cataract | 0.120271442 | 1 | 0 | BeFree_ORPHANET |
| Nuclear cataract | 0.120271442 | 1 | 0 | BeFree_ORPHANET |
| CATARACT, COPPOCK-LIKE | 0.12 | 0 | 0 | CTD_human |
| Autoimmune Diseases | 0.12 | 1 | 0 | CTD_human |
| Cataract microcornea syndrome | 0.12 | 0 | 0 | ORPHANET |
| Uveitis | 0.12 | 2 | 0 | CTD_human |
| Congenital total cataract | 0.12 | 0 | 0 | ORPHANET |
| Cataract | 0.011701795 | 14 | 0 | BeFree_LHGDN |
微信公众号
关注微信订阅号，实时查看信息，关注医学生物学动态。
版权所有 © 2025.Genelibs 济南弘晖生物技术有限公司 鲁ICP备13024435号-2
