Crybb2 crystallin, beta B2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Crybb2provided by MGI
Official Full Name: crystallin, beta B2provided by MGI
Primary source: MGI:MGI:88519
See related: Ensembl:ENSMUSG00000042240 AllianceGenome:MGI:88519
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Cryb-2
Summary: This gene is a member of the beta-crystallin family. Beta crystallins, along with alpha and gamma crystallins, are the major proteins found in the eye lens. These proteins maintain the refractive index of the lens whilst also maintaining its transparency. Since lens central fiber cells lose their nuclei during development, crystallins are made and then retained throughout life, making them extremely stable proteins. Beta and gamma crystallins are considered be a superfamily and have a similar domain architecture, including four Greek Key motifs. Beta-crystallins form aggregates of different sizes and are able to self-associate to form dimers or to form heterodimers with other beta-crystallins. The protein encoded by this gene may have Ca2+-binding activity and could be associated with potential functions in the hippocampus and in sperm. Targeted knockout of this gene in mouse induces age-related cataract. A chain-terminating mutation in a similar gene in human was found to cause type 2 cerulean cataracts. [provided by RefSeq, Feb 2015]
Expression: Low expression observed in reference dataset See more
Orthologs: human all
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Genomic context

Location:: 5 F; 5 55.38 cM

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (113206124..113217983, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (113058258..113070117, complement)

Chromosome 5 - NC_000071.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Endoplasmic Reticulum Stress and the Lysosomal Pathway Play Crucial Roles in the Progression of betaB2-Crystallin Mutation-Induced Congenital Cataracts in Mice.
Title: Endoplasmic Reticulum Stress and the Lysosomal Pathway Play Crucial Roles in the Progression of βB2-Crystallin Mutation-Induced Congenital Cataracts in Mice.
mutated Crybb2 is implicated in the development of schizophrenia.
Title: Crybb2 Mutations Consistently Affect Schizophrenia Endophenotypes in Mice.
Tmsb4X was up-regulated in Crybb2 mutant brain. Additionally, Tmsb4X was co-expressed with Crybb2 at actin-enriched cell ruffles. Over-expression of Tmsb4X in cultured hippocampal neurons inhibited dendritogenesis, which phenocopied Crybb2 knock-down.
Title: Crybb2 associates with Tmsb4X and is crucial for dendrite morphogenesis.
In conclusion, CRYBB2 regulates expression of different lncRNAs to influence ovary development
Title: Long non-coding RNAs regulate effects of β-crystallin B2 on mouse ovary development.
ovaries from female Crybb2(-/-) mice exhibited significantly reduced numbers of primordial, secondary and pre-ovulatory follicles when compared with WT mice, while the rate of atretic follicles was also increased
Title: Crybb2 deficiency impairs fertility in female mice.
BetaB2-crystallin has a role in hippocampal function and behavioral phenotypes.
Title: Crybb2 coding for βB2-crystallin affects sensorimotor gating and hippocampal function.
The reduced fertility of Crybb2 knockout male mice may result from the disordered proliferation and apoptosis of germ cells in the testis, possibly due to reduced CaMKIV from the loss of Crybb2.
Title: Decreased levels of Ca²⁺-calmodulin-dependent protein kinase IV in the testis as a contributing factor to reduced fertility in male Crybb2⁻/⁻ mice.
BetaB2-crystallin is not essential for the normal development of a transparent lens in the mouse. It plays an increasingly important role in maintaining the transparency of the lens after birth.
Title: Targeted knockout of the mouse betaB2-crystallin gene (Crybb2) induces age-related cataract.
presence of measurable interactions between MIP26 and all crystallins, with the extent of interactions decreasing from alphaA- and alphaB-crystallin to betaB2- and gammaC-crystallin.
Title: Confocal fluorescence microscopy study of interaction between lens MIP26/AQP0 and crystallins in living cells.
These results confirm the third allele of Crybb2 in the mouse that also affected exon 6 and the fourth Greek key motif. Moreover, expression analysis of Crybb2 identified for the first time distinct regions of expression in the brain.
Title: Novel allele of crybb2 in the mouse and its expression in the brain.

Submit: New GeneRIF Correction See all GeneRIFs (13)

Phenotypes

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Associated conditions

Description	Tests
Philly cataract GeneReviews: Not available

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Spontaneous (2) 1 citation
Targeted (1)
Chemically induced (ENU) (2) 1 citation
Endonuclease-mediated (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

BB094356 (e-PCR)
- UniSTS:207846

Crybb2 (e-PCR), detects polymorphism
- UniSTS:231404

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables structural constituent of eye lens	IBA Inferred from Biological aspect of Ancestor more info
enables structural constituent of eye lens	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within camera-type eye development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lens development in camera-type eye	IBA Inferred from Biological aspect of Ancestor more info
involved_in visual perception	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within visual perception	IMP Inferred from Mutant Phenotype more info	PubMed

General protein information

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Preferred Names: beta-crystallin B2

Names: beta-crystallin Bp

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_007773.4 → NP_031799.1 beta-crystallin B2

See identical proteins and their annotated locations for NP_031799.1

Status: REVIEWED

Source sequence(s)

BC085185

Consensus CDS

CCDS19546.1

UniProtKB/Swiss-Prot

P62696, Q0VGT6

Related

ENSMUSP00000107955.2, ENSMUST00000112336.8

Conserved Domains (2) summary

smart00247
Location:18 → 100

XTALbg; Beta/gamma crystallins

pfam00030
Location:108 → 190

Crystall; Beta/Gamma crystallin

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000071.7 Reference GRCm39 C57BL/6J

Range

113206124..113217983 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017320652.1 → XP_017176141.1 beta-crystallin B2 isoform X2

UniProtKB/Swiss-Prot

P62696, Q0VGT6

Conserved Domains (2) summary

smart00247
Location:18 → 100

XTALbg; Beta/gamma crystallins

pfam00030
Location:108 → 190

Crystall; Beta/Gamma crystallin
XM_006534760.2 → XP_006534823.2 beta-crystallin B2 isoform X1

Conserved Domains (1) summary

pfam00030
Location:175 → 257

Crystall; Beta/Gamma crystallin
XM_006534759.1 → XP_006534822.1 beta-crystallin B2 isoform X2

See identical proteins and their annotated locations for XP_006534822.1

UniProtKB/Swiss-Prot

P62696, Q0VGT6

Related

ENSMUSP00000031295.8, ENSMUST00000031295.8

Conserved Domains (2) summary

smart00247
Location:18 → 100

XTALbg; Beta/gamma crystallins

pfam00030
Location:108 → 190

Crystall; Beta/Gamma crystallin