2. Gene
  3. CRYBB2 - crystallin beta B2 Gene

CRYBB2 - crystallin beta B2 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：晶状体蛋白 B2

种属: Homo sapiens

同用名: CCA2; CRYB2; CRYB2A; CTRCT3; D22S665

基因 ID: 1415 | 基因类型: protein coding

关于 CRYBB2

Cytogenetic location: 22q11.23 Genomic coordinates (GRCh38): 22:25,211,661-25,231,869 (from NCBI)

This gene has 2 transcripts (splice variants), 191 orthologues, 14 paralogues and is associated with 11 phenotypes. Low expression observed in reference dataset.

功能概要

晶状体蛋白分为两类：分类群特异性或酶类，以及普遍存在的。后一类构成脊椎动物眼睛晶状体的主要蛋白质，并维持晶状体的透明度和折射率。由于晶状体中央纤维细胞在发育过程中会失去细胞核，因此会产生这些晶状体蛋白并在整个生命过程中保留下来，从而使它们成为极其稳定的蛋白质。哺乳动物晶状体蛋白分为 alpha、beta 和 gamma 家族； beta 和 γ 晶状体蛋白也被认为是一个超家族。 Alpha 和 Beta 家族进一步分为酸性和碱性组。晶状体蛋白中存在七个蛋白质区域：四个同源基序、一个连接肽以及 N 和 C 末端延伸。 β-晶状体蛋白是最异质的，不同之处在于 C 末端延伸的存在 (存在于碱性基团中，不存在于酸性基团中) 。 β-晶状体蛋白形成不同大小的聚集体，并能够自缔合形成二聚体或与其他β-晶状体蛋白形成异二聚体。该基因是 β 基本组成员，是具有 β-A4、β-B1 和 β-B3 的基因簇的一部分。发现链终止突变会导致 2 型天蓝色白内障。[RefSeq 提供，2008 年 7 月]

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]

CRYBB2 基因产物(1)

mRNA Protein Name
NM_000496.3 NP_000487.1 beta-crystallin B2
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables identical protein binding IPI
IPI: 通过物理相互作用推断
16319073 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

CRYBB2 蛋白结构

Crystall

Crystall: Beta/Gamma crystallin (18 - 100)

Crystall

Crystall: Beta/Gamma crystallin (108 - 190)

  • 0
  • 100
  • 205 a.a.
蛋白主名 其他名称

beta-crystallin B2

CTA-221G9.7

CRYBB2 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
Intra CRYBB2 P43320 LMO4 Homo sapiens P61968
Validated Y2H
32296183
Intra CRYBB2 P43320 CRYBA1 Homo sapiens P05813
Y2H Prey Pooling
32296183
Intra CRYBB2 P43320 CRYBA1 Homo sapiens P05813
Y2H Array
32296183
Intra CRYBB2 P43320 CRYGC Homo sapiens P07315
CoIP
11700327
Intra CRYBB2 P43320 CRYAA Homo sapiens P02489
Y2H
11700327
Intra CRYBB2 P43320 CRYAB Homo sapiens P02511
Y2H
11700327
Intra CRYBB2 P43320 CRYBB2 Homo sapiens P43320
GMS
16319073
Intra CRYBB2 P43320 CRYBB2 Homo sapiens P43320
Y2H
17662718
Intra CRYBB2 P43320 CRYAB Homo sapiens P02511
CoIP
11700327
Intra CRYBB2 P43320 CRYAA Homo sapiens P02489
Experimental Interac
11700327
Intra CRYBB2 P43320 CRYBB2 Homo sapiens P43320
Y2H
16319073
Intra CRYBB2 P43320 CRYAA Homo sapiens P02489
Y2H
12601044
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Cataract 3, Multiple Types

Cataract 3 Multiple Types

CTRCT3

Cca2

Cataract, Congenital, Cerulean Type, 2

Cataract 3, Multiple Types, With Or Without Microcornea

Cataract 3 Multiple Types With Or Without Microcornea

Congenital Cerulean Type Cataract 2

Congenital Cataract Blue Dot Type 2

Congenital Cataract Cerulean Type 2

Cspc

Sutural Cataract With Punctate And Cerulean Opacities
Cataract 7

Cca1

CTRCT7

Cerulean Cataract

Cataract 7, Cerulean Type

Cataract, Congenital, Cerulean Type, 1

Cerulean Type Cataract 7

Congenital Cerulean Type Cataract 1

Cataract, Congenital, Blue Dot Type 1

Cataract, Congenital, Cerulean Type 1

Blue-Dot Cataract
Early-Onset Posterior Subcapsular Cataract
Early-Onset Sutural Cataract

Early-Onset Cataract With Y-Shaped Suture Opacities
Cataract 30, Multiple Types

CTRCT30

Cataract 30, Pulverulent

Pulverulent Cataract

Coppock-Like Cataract

Dusty Cataract

Pulverulent Cataract 30

Cataract 30

Cataract, Pulverulent
Cataract Microcornea Syndrome

Microcornea Cataract Syndrome

Cataract-Microcornea Syndrome
Cataract 44

CTRCT44

Total Early-Onset Cataract

Cataract 44 And Hypotrichosis

Cataract And Hypotrichosis

Cataract, Type 44
Early-Onset Nuclear Cataract
Cataract 9, Multiple Types

Cataract 9 Multiple Types

CTRCT9

Cataract, Autosomal Dominant

Catc1

Cataract 9, Multiple Types, With Or Without Microcornea

Cataract, Autosomal Recessive Congenital 1

Autosomal Recessive Congenital Cataract 1

Cataract 9 Multiple Types With Or Without Microcornea

Autosomal Dominant Congenital Cataract

Cataract Autosomal Dominant

Cataracts, Autosomal Dominant
Cataract

Cataracts

Cat - [Cataract]

Cataract Form

Lens Opacity

Lens Opacities
Immature Cataract

Incipient Cataract

Incipient Senile Cataract

Water Clefts
Nance-Horan Syndrome

NHS

Cataract-Dental Syndrome

Cataract, X-Linked, With Hutchinsonian Teeth

Mesiodens-Cataract Syndrome

Cataract X-Linked With Hutchinsonian Teeth

Cataract Dental Syndrome

Mesiodens Cataract Syndrome
Posterior Polar Cataract

Cataract, Posterior Polar
Congenital Aphakia

Congenital Absence Of Lens

Aphakia, Congenital Primary

Agenesis Of Lens
Lens Disease

Lens Diseases
Senile Cataract
Mature Cataract

Total Or Mature Cataract

Total, Mature Senile Cataract
Presbyopia

Subnormal Accommodation

Accommodation Insufficiency Of Old Age
Anterior Segment Dysgenesis

Anterior Segment Developmental Anomaly

Anterior Segment Mesenchymal Dysgenesis

Corneal Opacification And Other Ocular Anomalies

Sclerocornea With Other Ocular Anomalies

Asmd

Asod

Anterior Segment Ocular Dysgenesis

Foxe3-Related Ocular Disorder

Familial Ocular Anterior Segment Mesenchymal Dysgenesis

Dysgenesis, Anterior Segment

Irido-Corneal Dysgenesis

Axenfeld-Rieger Syndrome, Type 3
Amblyopia

Lazy Eye
Aniridia 1

Aniridia

Congenital Aniridia

AN1

An

Cataract With Late-Onset Corneal Dystrophy

Aplasia Of Iris

Absent Iris

Irideremia

Aniridia Ii, Formerly

An2, Formerly

An2

Aniridia Type Ii

Aniridia, Type 1

An-1

Absence Of Iris

Agenesis Of Iris

Congenital Absence Of Iris

Hereditary Aniridia

Sporadic Aniridia
Coloboma Of Macula

Coloboma

Congenital Ocular Coloboma

Microphthalmia, Isolated, With Coloboma

Agenesis Of Macula

Hereditary Macular Coloboma

Ocular Coloboma

Coloboma Of Eye

Macular Coloboma

Uveoretinal Coloboma
Eye Disease

Eye Diseases

Abnormality Of The Eye

Toxoplasma Oculopathy
Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1
疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS03211 CRYBB2 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris CRYBB2 VGNC VGNC:39640
Rattus norvegicus CRYBB2 RGD RGD:2417
Felis catus CRYBB2 VGNC VGNC:61202
Bos taurus CRYBB2 VGNC VGNC:27737
Mus musculus CRYBB2 MGD MGI:88519
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