CRYBG3

protein-coding

crystallin beta-gamma domain containing 3, the group of Beta-gamma crystallin domain containing

Gene summary

Enables protein kinase A binding activity. Predicted to be involved in lens development in camera-type eye and visual perception. Part of protein-containing complex. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_153605.4

Inheritance

—

ClinVar variants

U:16B:11

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.33

Max pathogenic AF

—

Genomic locus

chr3:97,822,011-97,944,984

External References & Databases

Ensembl (ENSG00000080200)

Transcript & Mutation Effects

hg38 • Region Span ~123.0 kb

Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to CRYBG3 variants in ClinVar

2 Conditions Cataloged

not providedTotal: 13

not specifiedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_153605.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			2 clinvar	5 clinvar		7
missense			7 clinvar	4 clinvar	2 clinvar	13
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			7 clinvar			7
Total	0	0	16	9	2	27

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 7 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_153605.4	RefSeq	NP_705833.3	22	MANE Select
ENST00000389622.7	Ensembl	ENSP00000374273.3	22	MANE Select
ENST00000495403.1	Ensembl	ENSP00000418420.1	4	Standard
ENST00000977283.1	Ensembl	ENSP00000647100.1	2	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

biological_process

Molecular Function

carbohydrate binding
protein kinase A binding

Cellular Component

protein-containing complex

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000182096
Coding exons: 19
Length: 67992
Individuals with no LoFs: 124739
Homozygous LoFs: 0
Heterozygous LoFs: 55
Defined: 124794
p: 0.000220

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.468	489	519	0.942	0.0000252	6721
Missense (PolyPhen)		149	162.47	0.91711		2132
Synonymous	1.82	148	179	0.827	0.00000847	1865
Loss of Function	4.47	17	51.7	0.329	0.00000241	677

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00033	0.00032	rare
Latino/Admixed American	0.00030	0.00029	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00028	0.00028	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00025	0.00025	rare
South Asian	0.00017	0.00016	rare
Other	0.00034	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Isoform vlAKAP: Anchoring protein that mediates the subcellular compartmentation of protein kinase A (PKA). {ECO:0000269|PubMed:25097019}.;

Essentials

Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0750

Gene Damage Prediction

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