Crygd crystallin, gamma D [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Crygdprovided by MGI
Official Full Name: crystallin, gamma Dprovided by MGI
Primary source: MGI:MGI:88524
See related: Ensembl:ENSMUSG00000067299 AllianceGenome:MGI:88524
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: Aey4; Lop12; Cryg-1; DGcry-1
Summary: A structural constituent of eye lens. Acts upstream of or within lens fiber cell differentiation. Located in cytoplasm and nucleus. Is expressed in several structures, including sensory organ; skeleton; and tarsus. Used to study cataract 2 multiple types and cataract 4 multiple types. 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, Apr 2022]
Expression: Low expression observed in reference dataset See more
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Genomic context

Location:: 1 C2; 1 32.8 cM

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (65101001..65102598, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (65061838..65063440, 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

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?

Mutant gammaD-V76D reduces protein solubility in the lens and forms substantial intranuclear aggregates that disrupt the denucleation process of inner lens fiber cells
Title: GammaD-crystallin associated protein aggregation and lens fiber cell denucleation.

Submit: New GeneRIF Correction

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) (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Crygd (e-PCR), detects polymorphism
- UniSTS:141408

Crygd (e-PCR), detects polymorphism
- UniSTS:256370

Crygd (e-PCR), detects polymorphism
- UniSTS:259205

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
enables structural constituent of eye lens	ISO Inferred from Sequence Orthology 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
acts_upstream_of_or_within lens fiber cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lens fiber cell differentiation	ISO Inferred from Sequence Orthology more info
involved_in visual perception	IBA Inferred from Biological aspect of Ancestor more info
involved_in visual perception	ISO Inferred from Sequence Orthology 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 D

Names: gamma-D-crystallin; gamma-crystallin 1; lens opacity 12

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.