CRYBB3

Protein identityUniProt · HPA

UniProt accession

P26998

Gene

CRYBB3

Ensembl

ENSG00000100053

Chromosome

22

Canonical length

211 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Microtubules,Cytokinetic bridge,Mitotic spindle

OverviewNCBI Gene

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. Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group, none in the acidic group). Beta-crystallins form aggregates of different sizes and are able to self-associate to form dimers or to form heterodimers with other beta-crystallins. This gene, a beta basic group member, is part of a gene cluster with beta-A4, beta-B1, and beta-B2. Mutations in this gene result in cataract congenital nuclear autosomal recessive type 2. [provided by RefSeq, Feb 2013]

Canonical amino-acid sequenceUniProt

211 residues, UniProt reviewed canonical sequence.

>P26998|CRYBB3
     1  MAEQHGAPEQ AAAGKSHGDL GGSYKVILYE LENFQGKRCE LSAECPSLTD SLLEKVGSIQ
    61  VESGPWLAFE SRAFRGEQFV LEKGDYPRWD AWSNSRDSDS LLSLRPLNID SPHHKLHLFE
   121  NPAFSGRKME IVDDDVPSLW AHGFQDRVAS VRAINGTWVG YEFPGYRGRQ YVFERGEYRH
   181  WNEWDASQPQ LQSVRRIRDQ KWHKRGRFPS S

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CRYBB3 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Unknown

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.31

Highest tissue expression

1.9 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CRYBB3.

Disease | AllUniProt

Conditions CRYBB3 is implicated in, by any mechanism.

• Cataract 22, multiple types (CTRCT22) MIM:609741

Disease | GeneticClinVar

8 pathogenic / likely-pathogenic of 134 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Cataract 22 multiple types
• Developmental cataract
• Microphthalmia
• Cataract
• Gastric cancer

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.71

gnomAD pLI

0

gnomAD missense Z

-0.13

DepMap mean gene effect

0.04

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• lens development in camera-type eye
• visual perception

Molecular functions

• structural constituent of eye lens

Protein domainsUniProt · Pfam · InterPro

• Beta/gamma crystallin
• Gamma-crystallin-like
• Beta/Gamma-Crystallin
• Beta/Gamma crystallin

KeywordsUniProt

• Acetylation
• Cataract
• Eye lens protein
• Repeat