CRYGD (crystallin gamma D)

Gene
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1421
Gene name Gene Name - the full gene name approved by the HGNC.
Crystallin gamma D
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CRYGD
Synonyms (NCBI Gene) Gene synonyms aliases
CACA, CCA3, CCP, CRYG4, CTRCT4, PCC, cry-g-D
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
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(2)
miRTarBase ID miRNA Experiments Reference
MIRT2678681 hsa-miR-3653 CLIP-seq
MIRT2678682 hsa-miR-3658 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(13)
GO ID Ontology Definition Evidence Reference
GO:0002088 Process Lens development in camera-type eye IBA
GO:0002088 Process Lens development in camera-type eye ISS
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
123690 2411 ENSG00000118231
Protein
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID P07320
Protein name Gamma-crystallin D (Gamma-D-crystallin) (Gamma-crystallin 4)
Protein function Crystallins are the dominant structural components of the vertebrate eye lens.
PDB 1H4A , 1HK0 , 2G98 , 2KFB , 2KLJ , 4GR7 , 4JGF , 6ETA , 6ETC , 6W5B , 6WCY , 7P53 , 8BD0 , 8BPI , 8Q3L
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 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 4 multiple types, Aculeiform cataract, Developmental cataract rs28931605, rs764945940, rs121909598, rs121909595, rs398122948, rs121909596, rs864309701, rs121909597, rs1337897299 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
Joubert Syndrome joubert syndrome 17 N/A N/A ClinVar
Microcornea cataract - microcornea syndrome N/A N/A GenCC
Show/Hide Text Mining Associations (20)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Cataract Associate 10521291, 11371638, 12592018, 12676897, 14693780, 15041957, 15064679, 15273315, 16030500, 16046626, 16446699, 18334953, 18587492, 18618005, 19204787
View all (36 more)
Cataract Age Related Nuclear Associate 23124202
Cataract Autosomal Dominant Associate 15064679, 16288201, 19204787, 19262743, 20508808
Cataract Autosomal Dominant Nuclear Associate 16288201, 16446699, 16943771, 18618005, 19204787, 19390652, 21031598, 26147294, 33243271
Cataract Crystalline Coralliform Associate 16446699, 18334953, 19633732, 19668596, 21552497, 24103489, 26732753, 37480084
Cataract microcornea syndrome Associate 19204787
Cataract Nuclear Progressive Associate 16288201, 16943771, 19204787, 21197114, 21527994, 24465161, 26147294, 26732753
Cerulean cataract Associate 12676897, 19633732, 21850180
Chromosome Aberrations Associate 18618005
COVID 19 Associate 37246981