Crygc crystallin, gamma C [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Crygcprovided by MGI
Official Full Name: crystallin, gamma Cprovided by MGI
Primary source: MGI:MGI:88523
See related: Ensembl:ENSMUSG00000025952 AllianceGenome:MGI:88523
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: Cryg-5
Summary: Predicted to be a structural constituent of eye lens. Acts upstream of or within camera-type eye development. Predicted to be located in cytoplasm and nucleus. Is expressed in eye; ileum; reproductive system; and urogenital sinus. Used to study cataract 2 multiple types. Human ortholog(s) of this gene implicated in cataract and cataract 2 multiple types. Orthologous to human CRYGC (crystallin gamma C). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Restricted expression toward genital fat pad adult (RPKM 15.1) See more
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Genomic context

Location:: 1 C2; 1 32.81 cM

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (65110684..65112691, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (65071525..65073532, complement)

Chromosome 1 - NC_000067.7 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?

a 1-bp deletion in gammaC-crystallin leads to cataract.
Title: A 1-bp deletion in the gammaC-crystallin leads to dominant cataracts in mice.
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.

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Variation

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Alleles

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

Chemically induced (other) (2) 1 citation
Endonuclease-mediated (1)
Spontaneous (3) 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

Crygc (e-PCR), detects polymorphism
- UniSTS:256369

UniSTS:259204 (e-PCR)
- UniSTS:259204

Crygc (e-PCR), detects polymorphism
- UniSTS:259204

Crygc (e-PCR), detects polymorphism
- UniSTS:536470

RH138564 (e-PCR)
- UniSTS:220651

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	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within camera-type eye development	IMP Inferred from Mutant Phenotype more info	PubMed
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
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	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: gamma-crystallin C

Names: gamma-C-crystallin; gammaC-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_001082573.2 → NP_001076042.1 gamma-crystallin C isoform 2

See identical proteins and their annotated locations for NP_001076042.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region compared to variant 1. It encodes isoform 2 which has one additional amino acid compared to isoform 1.

Source sequence(s)

CJ066821, CK627566, EF426302

Consensus CDS

CCDS35600.1

UniProtKB/TrEMBL

A3RLD5

Related

ENSMUSP00000109698.2, ENSMUST00000114064.3

Conserved Domains (2) summary

smart00247
Location:3 → 82

XTALbg; Beta/gamma crystallins

pfam00030
Location:90 → 171

Crystall; Beta/Gamma crystallin
NM_007775.2 → NP_031801.1 gamma-crystallin C isoform 1

See identical proteins and their annotated locations for NP_031801.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes isoform 1.

Source sequence(s)

CJ066821, CK627566, EF426301

Consensus CDS

CCDS15012.1

UniProtKB/Swiss-Prot

Q03739, Q61597

UniProtKB/TrEMBL

A3RLD4

Related

ENSMUSP00000027089.9, ENSMUST00000027089.15

Conserved Domains (2) summary

smart00247
Location:3 → 82

XTALbg; Beta/gamma crystallins

pfam00030
Location:89 → 170

Crystall; Beta/Gamma crystallin