CRYBA2

Protein identityUniProt · HPA

UniProt accession

P53672

Gene

CRYBA2

Ensembl

ENSG00000163499

Chromosome

2

Canonical length

197 aa

Protein class

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

OverviewNCBI Gene

Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of the vertebrate eye, which function to maintain 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 defined 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 but absent in the acidic group). Beta-crystallins form aggregates of different sizes and are able to form homodimers through self-association or heterodimers with other beta-crystallins. This gene is a beta acidic group member. Three alternatively spliced transcript variants encoding identical proteins have been reported. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

197 residues, UniProt reviewed canonical sequence.

>P53672|CRYBA2
     1  MSSAPAPGPA PASLTLWDEE DFQGRRCRLL SDCANVCERG GLPRVRSVKV ENGVWVAFEY
    61  PDFQGQQFIL EKGDYPRWSA WSGSSSHNSN QLLSFRPVLC ANHNDSRVTL FEGDNFQGCK
   121  FDLVDDYPSL PSMGWASKDV GSLKVSSGAW VAYQYPGYRG YQYVLERDRH SGEFCTYGEL
   181  GTQAHTGQLQ SIRRVQH

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CRYBA2 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)

0.26

Highest tissue expression

16 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CRYBA2.

Disease | AllUniProt

Conditions CRYBA2 is implicated in, by any mechanism.

• Cataract 42 (CTRCT42) MIM:115900

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)

1.26

gnomAD pLI

0

gnomAD missense Z

-0.38

DepMap mean gene effect

0.03

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% 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

• identical protein binding
• structural constituent of eye lens

Protein domainsUniProt · Pfam · InterPro

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

KeywordsUniProt

• Cataract
• Eye lens protein
• Repeat

InteractionsUniProt · HPA

Protein binding partners of CRYBA2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• PIK3R3