CRYGB crystallin gamma B [Homo sapiens (human)] - Gene

Summary

Official Symbol: CRYGBprovided by HGNC
Official Full Name: crystallin gamma Bprovided by HGNC
Primary source: HGNC:HGNC:2409
See related: Ensembl:ENSG00000182187 MIM:123670; AllianceGenome:HGNC:2409
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: CRYG2; CTRCT39
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]
Expression: Low expression observed in reference dataset See more
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 (208142573..208146158, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (208622590..208626302, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (209007297..209010882, complement)

Chromosome 2 - NC_000002.12 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: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Glycation of human gammaB-crystallin
Title: Glycation of human γB-crystallin: A biophysical investigation.
Allelic variant frequency of the gamma-crystallin promoter (g(-47) ->a) affects the level of its expression in platelets from cataract patients.
Title: [ALLELIC VARIANT FREQUENCY OF PROMOTER (G(-47)-->A) γ-CRYSTALLIN GENE AFFECTS THE LEVEL OF ITS EXPRESSION IN PLATELETS].
Complex heterogeneous mutations in the gammaB crystallin gene have been described resulting in autosomal dominant congenital cataracts with three distinct phenotypes (lamellar, anterior polar, and complete cataracts) in the same family.
Title: Novel crystallin gamma B mutations in a Kuwaiti family with autosomal dominant congenital cataracts reveal genetic and clinical heterogeneity.
-47C allele of rs2289917 in CRYGB showed the strongest association with cataract.
Title: Polymorphisms of the gamma crystallin A and B genes among Indian patients with pediatric cataract.
Observational study of gene-disease association. (HuGE Navigator)
Title: Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
The alphaB-crystallin oligomers formed long-lived stable complexes with their gammaD-crystallin substrates.
Title: Partially folded aggregation intermediates of human gammaD-, gammaC-, and gammaS-crystallin are recognized and bound by human alphaB-crystallin chaperone.
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.
In gammaD-crystallin, methylation is exclusively at Cys 110, whereas in gammaC- and gammaB-crystallins, the principal methylation site is Cys 22 with minor methylation at Cys 79
Title: Methylation and carbamylation of human gamma-crystallins.
Possible sites for posttranslational modifications in gamma B crystallin.
Title: Prediction of possible sites for posttranslational modifications in human gamma crystallins: effect of glycation on the structure of human gamma-B-crystallin as analyzed by molecular modeling.

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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

Associated conditions

Description	Tests
Cataract 39 multiple types MedGen: C3808800 OMIM: 615188 GeneReviews: Not available	Compare labs

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

NoName (e-PCR)
- UniSTS:482117

GDB:181342 (e-PCR)
- UniSTS:155237

CRYGB_8280 (e-PCR)
- UniSTS:467623

NoName (e-PCR)
- UniSTS:490455

GDB:180726 (e-PCR)
- UniSTS:155112

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
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 lens fiber cell morphogenesis	IEA Inferred from Electronic Annotation 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

Component	Evidence Code	Pubs
is_active_in cellular_component	ND No biological Data available more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: gamma-crystallin B

Names: crystallin, gamma 1-2

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.