CRYBB2 - crystallin beta B2 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1415

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	References	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

CRYBB2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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

Cross: Cross-species interaction Intra: Intraspecies interaction

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

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 Set	/	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
Others	CRYBB2	NCBI