Crygb crystallin, gamma B [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Crygbprovided by MGI
Official Full Name: crystallin, gamma Bprovided by MGI
Primary source: MGI:MGI:88522
See related: Ensembl:ENSMUSG00000073658 AllianceGenome:MGI:88522
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Nop; Cryg-3; DGcry-3
Summary: A structural constituent of eye lens. Acts upstream of or within lens fiber cell morphogenesis. Located in cytoplasm and nucleus. Is expressed in several structures, including central nervous system and eye. Used to study cataract 39 multiple types. Human ortholog(s) of this gene implicated in cataract 39 multiple types. Orthologous to human CRYGB (crystallin gamma B). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in genital fat pad adult (RPKM 5.2), testis adult (RPKM 0.5) and 1 other tissue See more
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Genomic context

Location:: 1 C2; 1 32.82 cM

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (65119381..65121449, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (65080222..65082290, complement)

Chromosome 1 - NC_000067.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

Oxidation of active cysteines mediates protein aggregation of S10R, the cataract-associated mutant of mouse GammaB-crystallin.
Title: Oxidation of active cysteines mediates protein aggregation of S10R, the cataract-associated mutant of mouse GammaB-crystallin.
This dominant cataract was caused by the gammaB-S11R mutation.
Title: Dense nuclear cataract caused by the gammaB-crystallin S11R point mutation.
The cataract-causing mutation Crygb-nop has a 4 bp replacement in exon 3 at Ser138 truncating the wild-type sequence at 144. The mutated protein does not fold properly, resulting in amyloid-like intranuclear inclusions.
Title: Altered aggregation properties of mutant gamma-crystallins cause inherited cataract.
Crystallin gammaB-I4F mutant protein binds to alpha-crystallin and can affect lens transparency
Title: Crystallin {gamma}B-I4F mutant protein binds to {alpha}-crystallin and affects lens transparency.

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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) (1) 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

Crygb (e-PCR), detects polymorphism
- UniSTS:141407

Crygb (e-PCR), detects polymorphism
- UniSTS:256368

UniSTS:259203 (e-PCR)
- UniSTS:259203

Crygb (e-PCR), detects polymorphism
- UniSTS:259203

Gene Ontology Provided by MGI

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

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: gamma-crystallin B

Names: gamma-B-crystallin; gamma-crystallin 3; gammaB-crystallin; nuclear opacity

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.