CRYGA crystallin gamma A [Homo sapiens (human)] - Gene

Summary

Official Symbol: CRYGAprovided by HGNC
Official Full Name: crystallin gamma Aprovided by HGNC
Primary source: HGNC:HGNC:2408
See related: Ensembl:ENSG00000168582 MIM:123660; AllianceGenome:HGNC:2408
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CRYG1; CRYG5; CRY-g-A
Summary: Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Gamma-crystallins are a homogeneous group of highly symmetrical, monomeric proteins typically lacking connecting peptides and terminal extensions. They are differentially regulated after early development. Four gamma-crystallin genes (gamma-A through gamma-D) and three pseudogenes (gamma-E, gamma-F, gamma-G) are tandemly organized in a genomic segment as a gene cluster. Whether due to aging or mutations in specific genes, gamma-crystallins have been involved in cataract formation. [provided by RefSeq, Jul 2008]
Orthologs: mouse all
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Genomic context

Location:: 2q33.3

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (208160740..208163589, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (208640708..208643575, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (209025464..209028313, complement)

Chromosome 2 - NC_000002.12 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?

A novel cataract-causing mutation Ile82Met of gammaA crystallin trends to aggregate with unfolding intermediate.
Title: A novel cataract-causing mutation Ile82Met of γA crystallin trends to aggregate with unfolding intermediate.
Cataract-causing mutation R48C increases gammaA-crystallin susceptibility to oxidative stress and ultraviolet radiation.
Title: Cataract-causing mutation R48C increases γA-crystallin susceptibility to oxidative stress and ultraviolet radiation.
Studies show that The major proteins in the lens--alpha, beta, and gamma-crystallins--are constantly subjected to age-related changes.
Title: Lens aging: effects of crystallins.
This study establishes baseline frequency data for four SNPs in CRYGA and CRYGB genes for future case control studies on the role of these SNPs in the genetic basis of cataract.
Title: Analysis of single nucleotide polymorphisms of CRYGA and CRYGB genes in control population of western Indian origin.
Observational study of genotype prevalence. (HuGE Navigator)
Title: Analysis of single nucleotide polymorphisms of CRYGA and CRYGB genes in control population of western Indian origin.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:181240 (e-PCR)
- UniSTS:155208

NoName (e-PCR)
- UniSTS:483967

RH71373 (e-PCR)
- UniSTS:38077

Gene Ontology Provided by GOA

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	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
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	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: gamma-crystallin A

Names: crystallin, gamma 1; gamma-crystallin 5

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.