CRYGB (crystallin gamma B)

Gene
Gene Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1419
Gene name Gene Name - the full gene name approved by the HGNC.
Crystallin gamma B
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CRYGB
Synonyms (NCBI Gene) Gene synonyms aliases
CRYG2, CTRCT39
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q33.3
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
Transcription factors
Gene Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(1)
Transcription factor Regulation Reference
HSF1 Unknown 19250318
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(14)
GO ID Ontology Definition Evidence Reference
GO:0001654 Process Eye development IEA
GO:0002088 Process Lens development in camera-type eye IBA
GO:0002088 Process Lens development in camera-type eye IEA
GO:0005212 Function Structural constituent of eye lens IBA
GO:0005212 Function Structural constituent of eye lens IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Transcription factors Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
123670 2409 ENSG00000182187
Protein
Gene Transcription factors Gene ontology Other IDs Protein Associated diseases
UniProt ID P07316
Protein name Gamma-crystallin B (Gamma-B-crystallin) (Gamma-crystallin 1-2)
Protein function Crystallins are the dominant structural components of the vertebrate eye lens.
PDB 2JDF , 2JDG
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00030 Crystall 3 → 82 Beta/Gamma crystallin Domain
PF00030 Crystall 90 → 171 Beta/Gamma crystallin Domain
Sequence
Sequence length 175
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 Transcription factors 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 39 multiple types rs387907342 N/A
Show/Hide Text Mining Associations (4)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Cataract Associate 19262743, 19384013, 23288985
Cataract Autosomal Dominant Associate 23288985
Cataract zonular Associate 23288985
Coronary Artery Disease Associate 36222281