CRYBB2 - crystallin beta B2 Gene

Homo sapiens

Also known as CCA2; CRYB2; CRYB2A; CTRCT3; D22S665

Gene ID: 1415 | Gene type: protein coding

About 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.

Summary

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 Products(1)

mRNA	Protein	Name
NM_000496.3	NP_000487.1	beta-crystallin B2

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables identical protein binding	IPI IPI: Inferred from physical interaction	16319073	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CRYBB2 Protein Structure

Crystall

0
100
205 a.a.

Protein Preferred Names

Protein Names

beta-crystallin B2

CTA-221G9.7

Related Diseases

Diseases

Alias

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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03211	CRYBB2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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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