2. Gene
  3. CRYBA4 - crystallin beta A4 Gene

CRYBA4 - crystallin beta A4 Gene

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

中文名称：晶状体蛋白 A4

种属: Homo sapiens

同用名: CYRBA4; CTRCT23; MCOPCT4

基因 ID: 1413 | 基因类型: protein coding

关于 CRYBA4

Cytogenetic location: 22q12.1 Genomic coordinates (GRCh38): 22:26,590,220-26,630,669 (from NCBI)

This gene has 2 transcripts (splice variants), 190 orthologues, 14 paralogues and is associated with 5 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 酸性组成员，是具有 β-B1、β-B2 和 β-B3 的基因簇的一部分。[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 acidic group member, is part of a gene cluster with beta-B1, beta-B2, and beta-B3. [provided by RefSeq, Jul 2008]

CRYBA4 基因产物(1)

mRNA Protein Name
NM_001886.3 NP_001877.1 beta-crystallin A4

CRYBA4 蛋白结构

Crystall

Crystall: Beta/Gamma crystallin (13 - 96)

Crystall

Crystall: Beta/Gamma crystallin (107 - 194)

  • 0
  • 100
  • 196 a.a.
蛋白主名 其他名称

beta-crystallin A4

beta crystallin A4 chain transcript PS

CRYBA4 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
种属内
CRYBA4 P53673 GLI1 Homo sapiens P08151
Validated Y2H
25910212
种属内
CRYBA4 P53673 GLI1 Homo sapiens P08151
Y2H Array
25910212
种属内
CRYBA4 P53673 GLI1 Homo sapiens P08151
Y2H Bait-Prey Pool
25910212
种属内
CRYBA4 P53673 EFEMP1 Homo sapiens Q12805
Y2H Bait-Prey Pool
25910212
种属内
CRYBA4 P53673 EFEMP1 Homo sapiens Q12805
Validated Y2H
25910212
种属内
CRYBA4 P53673 EFEMP1 Homo sapiens Q12805
Y2H Array
25910212
种属内
CRYBA4 P53673 STX11 Homo sapiens O75558
Y2H Bait-Prey Pool
25910212
种属内
CRYBA4 P53673 STX11 Homo sapiens O75558
Validated Y2H
25910212
种属内
CRYBA4 P53673 STX11 Homo sapiens O75558
Y2H Array
25910212
种属内
CRYBA4 P53673 CCDC33 Homo sapiens Q8N5R6
Validated Y2H
25910212
种属内
CRYBA4 P53673 CCDC33 Homo sapiens Q8N5R6
Y2H Array
25910212
种属内
CRYBA4 P53673 CCDC33 Homo sapiens Q8N5R6
Y2H Bait-Prey Pool
25910212
种属内
CRYBA4 P53673 TRIP6 Homo sapiens Q15654
Y2H Bait-Prey Pool
25910212
种属内
CRYBA4 P53673 TRIP6 Homo sapiens Q15654
Validated Y2H
25910212
种属内
CRYBA4 P53673 TRIP6 Homo sapiens Q15654
Y2H Array
25910212
种属内
CRYBA4 P53673 CEP76 Homo sapiens Q8TAP6
Validated Y2H
25910212
种属内
CRYBA4 P53673 CEP76 Homo sapiens Q8TAP6
Y2H Array
25910212
种属内
CRYBA4 P53673 CEP76 Homo sapiens Q8TAP6
Y2H Array
25416956
种属内
CRYBA4 P53673 CEP76 Homo sapiens Q8TAP6
Y2H Bait-Prey Pool
25910212
种属内
CRYBA4 P53673 IKZF3 Homo sapiens Q9UKT9
Validated Y2H
25910212
种属内
CRYBA4 P53673 IKZF3 Homo sapiens Q9UKT9
Y2H Bait-Prey Pool
25910212
种属内
CRYBA4 P53673 IKZF3 Homo sapiens Q9UKT9
Y2H Array
25910212
种属内
CRYBA4 P53673 FHL5 Homo sapiens Q5TD97
Y2H Bait-Prey Pool
25910212
种属内
CRYBA4 P53673 FHL5 Homo sapiens Q5TD97
Validated Y2H
25910212
种属内
CRYBA4 P53673 FHL5 Homo sapiens Q5TD97
Y2H Array
25910212
种属内
CRYBA4 P53673 CRYBB1 Homo sapiens P53674
Pull Down
31254514
种属内
CRYBA4 P53673 CRYBB1 Homo sapiens P53674
Y2H
31254514
种属内
CRYBA4 P53673 C1orf94 Homo sapiens Q6P1W5
Validated Y2H
25910212
种属内
CRYBA4 P53673 CRYBA4 Homo sapiens P53673
Y2H
31254514
种属内
CRYBA4 P53673 C1orf94 Homo sapiens Q6P1W5
Y2H Array
25910212
种属内
CRYBA4 P53673 C1orf94 Homo sapiens Q6P1W5
Y2H Bait-Prey Pool
25910212
种属内
CRYBA4 P53673 CRYBA4 Homo sapiens P53673
FCS
31254514
种属内
CRYBA4 P53673 CRYBA4 Homo sapiens P53673
Crosslink
31254514
种属内
CRYBA4 P53673 CRYBA4 Homo sapiens P53673
GMS
31254514
种属内
CRYBA4 P53673 MIF4GD Homo sapiens A9UHW6-2
Validated Y2H
25910212
种属内
CRYBA4 P53673 MIF4GD Homo sapiens A9UHW6-2
Y2H Bait-Prey Pool
25910212
种属内
CRYBA4 P53673 MIF4GD Homo sapiens A9UHW6-2
Y2H Array
25910212
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 23, Multiple Types

Cataract 23

CTRCT23

Lamellar Cataract 23

Cataract 23, Multiple Types, With Or Without Microcornea

Isolated Microphthalmia With Cataract 4

Mcopct4

Cataract, Type 23

Microphthalmia, Isolated, With Cataract 4
Cataract 17, Multiple Types

CTRCT17

Cataract, Congenital Nuclear, Autosomal Recessive 3

Catcn3

Cataract 17 Multiple Types

Cataract 17, Multiple Types, With Or Without Microcornea

Autosomal Recessive Congenital Nuclear Cataract 3
Cataract Microcornea Syndrome

Microcornea Cataract Syndrome

Cataract-Microcornea Syndrome
Early-Onset Lamellar Cataract
Colobomatous Microphthalmia

Anophthalmia-Microphthalmia Syndrome

Mac

Microphthalmia With Colobomatous Cyst

Microphthalmia-Anophthalmia-Coloboma Syndrome

Microphthalmia-Anophthalmia-Coloboma

Microphthalmia And Mental Deficiency
Cataract

Cataracts

Cat - [Cataract]

Cataract Form

Lens Opacity

Lens Opacities
Trichothiodystrophy 6, Nonphotosensitive

TTD6

Nonphotosensitive Trichothiodystrophy 6

Trichothiodystrophy 6, Non-Photosensitive
Nonphotosensitive Trichothiodystrophy

Trichothiodystrophy Nonphotosensitive

Amish Brittle Hair Brain Syndrome
Abruzzo-Erickson Syndrome

Abruzzo Erickson Syndrome

ABERS

Charge-Like Syndrome, X-Linked

Cleft Palate-Coloboma-Deafness Syndrome

Charge Like Syndrome X-Linked

Charge-Like Syndrome

Cleft Palate-Coloboma-Hearing Loss Syndrome

X-Linked Charge-Like Syndrome
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
Retinitis Pigmentosa 29

RP29
Isolated Microphthalmia
Galactosemia Ii

Galactokinase Deficiency

Galk Deficiency

Galactokinase Deficiency With Cataracts

Deficiency Of Galactokinase

GALAC2

Galk-D

Galactokinase Deficiency Galactosemia

Galactosemia 2

Galactosemia Type 2

Hereditary Galactokinase Deficiency

Galactokinase Deficiency, Cataract

Galactosemias

Galk - [Galactokinase Deficiency]
Syndromic Microphthalmia

Microphthalmia, Syndromic
Microphthalmia, Syndromic 2

Oculofaciocardiodental Syndrome

Ofcd Syndrome

MCOPS2

Microphthalmia, Cataracts, Radiculomegaly, And Septal Heart Defects

Syndromic Microphthalmia 2

Anop2

Cataract-Microphthalmia-Radiculomegaly-Cardiac Septal Defect Syndrome

Maa2

Microphthalmia Cataracts Radiculomegaly And Septal Heart Defects

Syndromic Microphthalmia Type 2

Oculo-Facio-Cardio-Dental Syndrome

Anop2, Formerly

Maa2, Formerly

Microphthalmia Syndromic 2

Oculo Facio Cardio Dental Syndrome

Microphthalmia, Syndromic, 2

Marashi-Gorlin Syndrome

Microphthalmia, Cataracts, Radiculomegaly And Septal Heart Defects

Microphthalmia, Syndromic, Type 2
Myopia

Near-Sightedness

Short-Sightedness

Nearsightedness

Nearsighted

Near Vision

Close Sighted

Myopic

Short-Sighted

Near Sighted
Porencephaly
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
Lens Disease

Lens Diseases
Lens Subluxation

Subluxation Of Lens
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
Iris Disease

Iris Diseases
Amblyopia

Lazy Eye
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
Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal
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-RS03209 CRYBA4 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus CRYBA4 MGD MGI:102716
Felis catus CRYBA4 VGNC VGNC:61200
Bos taurus CRYBA4 VGNC VGNC:27735
Macaca mulatta CRYBA4 VGNC VGNC:71503
Rattus norvegicus CRYBA4 RGD RGD:61962
Canis familiaris CRYBA4 VGNC VGNC:39638
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