CRYBB2
  • 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
CRYBB2 (HGNC:2398) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
crystallin beta B2
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
CCA2, CRYB2A, CRYB2
Alias symbols
No aliases found
%HI
48.55(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.09(Read more about gnomAD pLI score)
LOEUF
0.77(Read more about gnomAD LOEUF score)
Cytoband
22q11.23
Genomic Coordinates
GRCh37/hg19: chr22:25615606-25627836 NCBI Ensembl UCSC
GRCh38/hg38: chr22:25211661-25231869 NCBI Ensembl UCSC
MANE Select Transcript
NM_000496.3 ENST00000398215.3 (Read more about MANE Select)
Function
Crystallins are the dominant structural components of the vertebrate eye lens. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-11310
ClinGen Curation ID:
CCID:006939
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
01/10/2023

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
No clearly loss-of-function variants in CRYBB2 have been reported at this time. A recurrent nonsense variant (Q155X), caused by gene conversion from a nearby pseudogene, has been reported in several families with autosomal dominant cataracts of variable types (PMIDs: 9158139, 10634616, 11424921, 17234267, 18587492, 18449377, 16179907). One individual, reported by Litt et al (2009, PMID: 9158139) was homozygous for this variant and was more severely affected than her heterozygous relatives. Liu et al (2005, PMID: 15889016) showed that the resulting truncated protein is not degraded but may affect protein folding and reduce some protein-protein interactions. Additional truncating variants, all within the last exon, have been reported in individuals with cataracts (PMID: 28450710, 19182255, 32883240, 28025620). It is not yet clear that the mechanism for cataracts in these families is loss of function and it remains very possible that a different mechanism is responsible. Additional references: PMID: 21031021 Santhiya et al. (2010) identified a synonymous variant that affected the last basepair of exon 2, c.54G>A, in an individual with cataracts. Authors note a splice site prediction program suggests the change disrupts the spice site, however, no RNA analysis was performed. The variant was also identified in the unaffected mother and an unaffected sibling.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
There are no reports of focal duplications of CRYBB2.

Genomic View

Select assembly: (NC_000022.10) (NC_000022.11)