CRYBA4 (crystallin beta A4)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1413
Gene name Gene Name - the full gene name approved by the HGNC.
Crystallin beta A4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CRYBA4
Synonyms (NCBI Gene) Gene synonyms aliases
CTRCT23, CYRBA4, MCOPCT4
Chromosome Chromosome number
22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q12.1
Summary Summary of gene provided in NCBI Entrez 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 l
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(3)
SNP ID Visualize variation Clinical significance Consequence
rs74315486 T>C Pathogenic Coding sequence variant, missense variant
rs74315487 T>C Pathogenic Coding sequence variant, missense variant
rs1114167427 G>T Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(6)
miRTarBase ID miRNA Experiments Reference
MIRT911165 hsa-miR-3612 CLIP-seq
MIRT911166 hsa-miR-377 CLIP-seq
MIRT911167 hsa-miR-4716-3p CLIP-seq
MIRT911168 hsa-miR-4723-5p CLIP-seq
MIRT911169 hsa-miR-5095 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(9)
GO ID Ontology Definition Evidence Reference
GO:0002088 Process Lens development in camera-type eye IBA
GO:0005212 Function Structural constituent of eye lens IBA
GO:0005212 Function Structural constituent of eye lens IEA
GO:0005515 Function Protein binding IPI 17662718, 25416956, 25910212, 31254514, 31515488
GO:0007601 Process Visual perception IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
123631 2396 ENSG00000196431
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID P53673
Protein name Beta-crystallin A4 (Beta-A4 crystallin)
Protein function Crystallins are the dominant structural components of the vertebrate eye lens.
PDB 3LWK
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00030 Crystall 13 → 97 Beta/Gamma crystallin Domain
PF00030 Crystall 106 → 194 Beta/Gamma crystallin Domain
Sequence
Sequence length 196
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Cataract Cataract 23 rs74315486, rs74315487, rs1114167427 N/A
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Inflammatory Bowel Disease Inflammatory bowel disease N/A N/A GWAS
Microcornea cataract - microcornea syndrome N/A N/A GenCC
Show/Hide Text Mining Associations (4)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Cataract Associate 12360425, 16960806, 24319337, 28272538, 28450710, 29914532, 31935276, 33594837, 34304179
Genetic Diseases Inborn Associate 28418495
Hyperferritinemia hereditary with congenital cataracts Associate 28450710
Microphthalmos Associate 16960806