CRYGD (crystallin gamma D)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 1421
Gene name Crystallin gamma D
Gene symbol CRYGD
Synonyms (NCBI Gene)
CACACCA3CCPCRYG4CTRCT4PCCcry-g-D
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
miRNA miRNA information provided by mirtarbase database.
2
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
123690 2411 ENSG00000118231
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
21
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (4)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Aculeiform cataract Likely pathogenic; Pathogenic rs2105851392, rs2469111254, rs2469111242, rs121909595, rs121909596, rs121909597, rs28931605, rs1337897299, rs764945940, rs398122948 RCV002020658
RCV002819120
RCV003594613
RCV000803517
RCV002228036
View all (5 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cataract 4 multiple types Likely pathogenic; Pathogenic rs864309701, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs1337897299, rs398122948 RCV004796097
RCV000018445
RCV000018446
RCV000018447
RCV000018448
View all (4 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CRYGD-related disorder Likely pathogenic; Pathogenic rs786205546, rs121909596, rs28931605, rs1337897299 RCV004730893
RCV003894812
RCV004730848
RCV004731011
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental cataract Likely pathogenic; Pathogenic rs864309701, rs28931605 RCV000203375
RCV000203330
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (17)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Cataract Uncertain significance; Likely benign ClinVar
CTD, Disgenet
CTD, Disgenet
★★★★★
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
CATARACT - MICROCORNEA SYNDROME — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CATARACT 4 MULTIPLE TYPE S — ClinVar, GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CATARACT 4, MULTIPLE TYPE S — CTD, Disgenet, HPO
CTD, Disgenet, HPO
CTD, Disgenet, HPO
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (128)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 24048333, 26158298, 26235745
★★★★★
★☆☆☆☆
Found in Text Mining only
Adrenal Gland Pheochromocytoma Adrenal Gland Pheochromocytoma BEFREE 20702724, 22429592, 24394736, 25608029, 25625332, 28162975, 28332880, 30295211, 30538672, 30913014, 31246590
★★★★★
★☆☆☆☆
Found in Text Mining only
Adrenocortical carcinoma Adrenocortical carcinoma BEFREE 28332880
★★★★★
★☆☆☆☆
Found in Text Mining only
Amnesia Amnesia BEFREE 31001097
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia Anemia BEFREE 30896663
★★★★★
★☆☆☆☆
Found in Text Mining only
Anorexia Nervosa Anorexia BEFREE 27873550
★★★★★
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder BEFREE 30831461
★★★★★
★☆☆☆☆
Found in Text Mining only
Anxiety Disorders Anxiety Disorder BEFREE 30831461
★★★★★
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 24204921
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis BEFREE 15248231, 16200610, 17456529, 24489017, 29670135, 30024658, 30459755
★★★★★
★☆☆☆☆
Found in Text Mining only