Cryge crystallin, gamma E [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Crygeprovided by MGI
Official Full Name: crystallin, gamma Eprovided by MGI
Primary source: MGI:MGI:88525
See related: Ensembl:ENSMUSG00000070870 AllianceGenome:MGI:88525
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: Elo; Cryg-2; Cryg-6; DGcry-2
Summary: Predicted to be a structural constituent of eye lens. Acts upstream of or within lens development in camera-type eye. Is expressed in several structures, including central nervous system; eye; gonad; and gut gland. Used to study cataract. Human ortholog(s) of this gene implicated in cataract 4 multiple types and cataract 7. Orthologous to human CRYGD (crystallin gamma D). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in ovary adult (RPKM 1.7), testis adult (RPKM 0.5) and 3 other tissues See more
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Genomic context

Location:: 1 C2; 1 32.8 cM

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (65087716..65090783, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (65048555..65051816, complement)

Chromosome 1 - NC_000067.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

DNA walking identified a murine endogenous retrovirus (IAPLTR1: ERVK) insertion in exon 3 of Cryge, disrupting the coding sequence for gammaE-crystallin
Title: Endogenous retroviral insertion in Cryge in the mouse No3 cataract mutant.
Two cataract-causing mutations resulting in amyloid-like intranuclear inclusions occur: Cryge-elo (a single bp deletion in exon 3) and Cryge-t (a C to G transversion in exon 3). Both lead to truncated peptides.
Title: Altered aggregation properties of mutant gamma-crystallins cause inherited cataract.

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Variation

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Alleles

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

Chemically induced (ENU) (4) 1 citation
Endonuclease-mediated (1)
Radiation induced (2) 1 citation
Spontaneous (4) 1 citation
Targeted (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH94588 (e-PCR)
- UniSTS:119836

Crygf (e-PCR), detects polymorphism
- UniSTS:141409

UniSTS:463202 (e-PCR)
- UniSTS:463202

Cryge (e-PCR), detects polymorphism
- UniSTS:463202

Cryge (e-PCR), detects polymorphism
- UniSTS:259206

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	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in cellular response to reactive oxygen species	ISO Inferred from Sequence Orthology more info
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
involved_in visual perception	IBA Inferred from Biological aspect of Ancestor more info
involved_in visual perception	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: gamma-crystallin E

Names: eye lens obsolescence; gamma-E-crystallin

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_001420083.1 → NP_001407012.1 gamma-crystallin E isoform 2

Status: VALIDATED

Source sequence(s)

AC158958
NM_007777.4 → NP_031803.3 gamma-crystallin E isoform 1

See identical proteins and their annotated locations for NP_031803.3

Status: VALIDATED

Source sequence(s)

AC158958

Consensus CDS

CCDS35598.1

UniProtKB/Swiss-Prot

O89028, P26999, Q03740, Q9CXK5

UniProtKB/TrEMBL

A2RTH4

Related

ENSMUSP00000084617.6, ENSMUST00000087359.6

Conserved Domains (2) summary

smart00247
Location:3 → 82

XTALbg; Beta/gamma crystallins

pfam00030
Location:89 → 170

Crystall; Beta/Gamma crystallin