CRYBA4
Beta-crystallin A4
Also known as: CRBA4_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P53673
- Gene
- CRYBA4
- Ensembl
- ENSG00000196431
- Chromosome
- 22
- Canonical length
- 196 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 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 acidic group member, is part of a gene cluster with beta-B1, beta-B2, and beta-B3. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
196 residues, UniProt reviewed canonical sequence.
>P53673|CRYBA4
1 MTLQCTKSAG PWKMVVWDED GFQGRRHEFT AECPSVLELG FETVRSLKVL SGAWVGFEHA
61 GFQGQQYILE RGEYPSWDAW GGNTAYPAER LTSFRPAACA NHRDSRLTIF EQENFLGKKG
121 ELSDDYPSLQ AMGWEGNEVG SFHVHSGAWV CSQFPGYRGF QYVLECDHHS GDYKHFREWG
181 SHAPTFQVQS IRRIQQLocalizationUniProt · AlphaFold · HPA
Whether an antibody against CRYBA4 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)
- 0.25
- Highest tissue expression
- 1.4 nTPM
Expression across tissuesHPA
Tissue
- epididymis: 1.4 nTPM
- testis: 1.1 nTPM
- duodenum: 0.2 nTPM
- spleen: 0.2 nTPM
- amygdala: 0.1 nTPM
- appendix: 0.1 nTPM
Single-cell type
- epididymal principal cells: 14 nCPM
- undifferentiated spermatogonia: 5.5 nCPM
- neutrophils: 5.3 nCPM
- plasma cells: 4.8 nCPM
- late primary spermatocytes: 3.8 nCPM
- schwann cells: 2.1 nCPM
Immune cell
- MAIT T-cell: 0.3 nTPM
- NK-cell: 0.1 nTPM
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
Brain region
- white matter: 0.5 nTPM
- cerebral cortex: 0.4 nTPM
- amygdala: 0.2 nTPM
- hippocampal formation: 0.2 nTPM
- pons: 0.2 nTPM
- thalamus: 0.2 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about CRYBA4.
Disease | AllUniProt
Conditions CRYBA4 is implicated in, by any mechanism.
- Cataract 23, multiple types (CTRCT23) MIM:610425
Disease | GeneticClinVar
6 pathogenic / likely-pathogenic of 109 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Cataract 23
- Early-onset non-syndromic cataract
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)
- 1.39
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.69
- DepMap mean gene effect
- -0.03
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads CRYBA4 as an antibody target. Whether an autoantibody or antibody against CRYBA4 could matter depends on whether native CRYBA4 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
CRYBA4 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label CRYBA4 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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