CRYGB (crystallin gamma B)

Gene Gene information from NCBI Gene database.
Gene Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID 1419
Gene name Crystallin gamma B
Gene symbol CRYGB
Synonyms (NCBI Gene)
CRYG2CTRCT39
Chromosome 2
Chromosome location 2q33.3
Summary 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 Transcription factors information provided by TRRUST V2 database.
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Gene Transcription factors Gene ontology Other IDs Protein Associated diseases
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Transcription factor Regulation Reference
HSF1 Unknown 19250318
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene Transcription factors Gene ontology Other IDs Protein Associated diseases
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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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Transcription factors Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
123670 2409 ENSG00000182187
Protein Protein information from UniProt database.
Gene Transcription factors Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cataract 39 multiple types Pathogenic rs387907342 RCV000034854
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CRYGB-related disorder Likely benign; Benign rs140473427, rs771834624, rs373684892, rs200750137 RCV003929371
RCV003917067
RCV003934394
RCV003925690
Show/Hide Text Mining Associations (4)
Associations from Text MiningDisease 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