CRYGC (crystallin gamma C)

Gene Gene information from NCBI Gene database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID 1420
Gene name Crystallin gamma C
Gene symbol CRYGC
Synonyms (NCBI Gene)
CCLCRYG3CTRCT2
Chromosome 2
Chromosome location 2q33.3
Summary 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.
2
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all (2)
miRTarBase ID miRNA Experiments Reference
MIRT016711 hsa-miR-335-5p Microarray 18185580
MIRT028758 hsa-miR-26b-5p Microarray 19088304
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
10
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all (10)
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
123680 2410 ENSG00000163254
Protein Protein information from UniProt database.
Gene miRNA 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.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
68
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (5)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cataract 2, Coppock-like Pathogenic rs104893618 RCV000018452
Cataract 2, multiple types Pathogenic; Likely pathogenic rs1553585262, rs2105857937, rs1695062782, rs2468835222, rs398122392, rs398122944, rs137853924, rs587778872 RCV001336530
RCV002274222
RCV000018453
RCV004577318
RCV000056309
RCV000056310
RCV000056311
RCV000059346
CRYGC-related disorder Likely pathogenic rs1559320516 RCV003983314
Developmental cataract Pathogenic rs864309689, rs587778872 RCV000203369
RCV000203402
Show/Hide Unknown Diseases (2)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Ovarian serous cystadenocarcinoma Likely benign rs76717720 RCV005915073
Usher syndrome type 2C Benign rs61751949 RCV001258282
Show/Hide Text Mining Associations (11)
Associations from Text MiningDisease 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
View all (2 more)
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