CRYGC (crystallin gamma C)

Gene
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1420
Gene name Gene Name - the full gene name approved by the HGNC.
Crystallin gamma C
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CRYGC
Synonyms (NCBI Gene) Gene synonyms aliases
CCL, CRYG3, CTRCT2
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.
This gene encodes a member of the beta/gamma-crystallin family of proteins. Crystallins constitute the major proteins of vertebrate eye lens and maintain the transparency and refractive index of the lens. This gene and several family members are present i
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT016711 hsa-miR-335-5p Microarray 18185580
MIRT028758 hsa-miR-26b-5p Microarray 19088304
Transcription factors
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(1)
Transcription factor Regulation Reference
HSF4 Unknown 19250318
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
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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:0005212 Function Structural constituent of eye lens NAS 12507494
GO:0005515 Function Protein binding IPI 11700327, 12601044, 16303126, 28514442, 32296183, 33961781
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
123680 2410 ENSG00000163254
Protein
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
UniProt ID P07315
Protein name Gamma-crystallin C (Gamma-C-crystallin) (Gamma-crystallin 2-1) (Gamma-crystallin 3)
Protein function Crystallins are the dominant structural components of the vertebrate eye lens.
PDB 2NBR
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00030 Crystall 3 → 82 Beta/Gamma crystallin Domain
PF00030 Crystall 89 → 170 Beta/Gamma crystallin Domain
Sequence
Sequence length 174
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 miRNA 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 Nuclear pulverulent cataract, cataract 2, multiple types, Developmental cataract rs104893618, rs1695062782, rs398122392, rs398122944, rs137853924, rs587778872, rs864309689, rs1553585262 N/A
Show/Hide Unknown Diseases (3)
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
Attention Deficit Hyperactivity Disorder Attention deficit hyperactivity disorder N/A N/A GWAS
Microcornea cataract - microcornea syndrome N/A N/A GenCC
Usher Syndrome Usher syndrome type 2C N/A N/A ClinVar
Show/Hide Text Mining Associations (11)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adrenocortical Carcinoma Hereditary Associate 28298635
Anterior Capsular Rupture Ocular Associate 37203095
Cataract Associate 10521291, 11904153, 18587492, 18618005, 18926820, 19204787, 19262743, 19390652, 22876111, 23441109, 26732753, 28298635, 29386872, 29914532, 31523120
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Cataract Autosomal Dominant Associate 11904153, 19204787
Cataract Autosomal Dominant Nuclear Associate 18618005, 19204787, 22876111, 33243271
Cataract Coppock Like Associate 10521291, 11904153, 18926820
Cataract microcornea syndrome Associate 19204787, 22876111, 28298635
Cataract Nuclear Progressive Associate 19204787, 26732753, 28298635
Chromosome Aberrations Associate 18618005
Eye Diseases Associate 24281366