CRYGB

crystallin gamma B, the group of Beta-gamma crystallins

Basic information

Region (hg38): 2:208142573-208146158

Previous symbols: [ "CRYG2" ]

Links

ENSG00000182187

∙ NCBI:1419 ∙ OMIM:123670 ∙ HGNC:2409 ∙ Uniprot:P07316 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

early-onset anterior polar cataract (Supportive), mode of inheritance: AD
total early-onset cataract (Supportive), mode of inheritance: AD
early-onset lamellar cataract (Supportive), mode of inheritance: AD
cataract 39 multiple types (Limited), mode of inheritance: AD
cataract 39 multiple types (Limited), mode of inheritance: AD

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Cataract 39, multiple types	AD	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Ophthalmologic	23288985

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CRYGB gene.

not_specified (29 variants)
Cataract_39_multiple_types (17 variants)
CRYGB-related_disorder (4 variants)
not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CRYGB gene is commonly pathogenic or not. These statistics are base on transcript: NM_000005210.4. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				3 clinvar	2 clinvar	5
missense			33 clinvar	3 clinvar	1 clinvar	37
nonsense						0
start loss						0
frameshift	1 clinvar					1
splice donor/acceptor (+/-2bp)						0
Total	1	0	33	6	3

Highest pathogenic variant AF is 0.000003097878

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CRYGB	protein_coding	protein_coding	ENST00000260988	3	3596

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
8.14e-8	0.0888	125714	0	33	125747	0.000131

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.454	120	107	1.12	0.00000625	1156
Missense in Polyphen		33	29.428	1.1214		351
Synonymous	-0.529	44	39.8	1.11	0.00000238	313
Loss of Function	-0.487	10	8.47	1.18	3.61e-7	94

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000517	0.000514
Ashkenazi Jewish	0.00	0.00
East Asian	0.000163	0.000163
Finnish	0.00	0.00
European (Non-Finnish)	0.0000882	0.0000879
Middle Eastern	0.000163	0.000163
South Asian	0.000255	0.000229
Other	0.000326	0.000326

dbNSFP

Source: dbNSFP

Function: FUNCTION: Crystallins are the dominant structural components of the vertebrate eye lens.;
Disease: DISEASE: Cataract 39, multiple types (CTRCT39) [MIM:615188]: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT39 includes lamellar, anterior polar, and complete cataracts. {ECO:0000269|PubMed:23288985}. Note=The disease is caused by mutations affecting the gene represented in this entry.;

Recessive Scores

pRec: 0.115

Intolerance Scores

loftool: 0.703
rvis_EVS: 0.13
rvis_percentile_EVS: 63

Haploinsufficiency Scores

pHI: 0.150
hipred: N
hipred_score: 0.170
ghis: 0.435

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: S
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.135

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

Gene name: Crygb
Phenotype: vision/eye phenotype;

Gene ontology

Biological process: visual perception;lens fiber cell morphogenesis
Cellular component: cellular_component;nucleus;cytoplasm
Molecular function: structural constituent of eye lens