Free for academic non-profit institutions. Other users need a Commercial license

Aliases for CRYGD Gene

Aliases for CRYGD Gene

  • Crystallin Gamma D 2 3 5
  • Gamma-D-Crystallin 3 4
  • CRYG4 3 4
  • Crystallin, Gamma D 2
  • Gamma Crystallin 4 3
  • Gamma-Crystallin D 3
  • Gamma-Crystallin 4 4
  • Cry-G-D 3
  • CTRCT4 3
  • CACA 3
  • CCA3 3
  • CCP 3
  • PCC 3

External Ids for CRYGD Gene

Previous HGNC Symbols for CRYGD Gene

  • CRYG4

Previous GeneCards Identifiers for CRYGD Gene

  • GC02M207153
  • GC02M207698
  • GC02M208950
  • GC02M209189
  • GC02M209190
  • GC02M208811
  • GC02M208694
  • GC02M208986
  • GC02M200834

Summaries for CRYGD Gene

Entrez Gene Summary for CRYGD 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 lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Gamma-crystallins are a homogeneous group of highly symmetrical, monomeric proteins typically lacking connecting peptides and terminal extensions. They are differentially regulated after early development. Four gamma-crystallin genes (gamma-A through gamma-D) and three pseudogenes (gamma-E, gamma-F, gamma-G) are tandemly organized in a genomic segment as a gene cluster. Whether due to aging or mutations in specific genes, gamma-crystallins have been involved in cataract formation. [provided by RefSeq, Jul 2008]

GeneCards Summary for CRYGD Gene

CRYGD (Crystallin Gamma D) is a Protein Coding gene. Diseases associated with CRYGD include Cataract 4, Multiple Types and Cataract 29. Gene Ontology (GO) annotations related to this gene include structural constituent of eye lens. An important paralog of this gene is CRYGB.

UniProtKB/Swiss-Prot for CRYGD Gene

  • Crystallins are the dominant structural components of the vertebrate eye lens.

Gene Wiki entry for CRYGD Gene

Additional gene information for CRYGD Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CRYGD Gene

Genomics for CRYGD Gene

GeneHancer (GH) Regulatory Elements for CRYGD Gene

Promoters and enhancers for CRYGD Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J208123 Promoter/Enhancer 0.9 EPDnew Ensembl 650.7 +0.3 257 0.7 L3MBTL2 ZBTB33 ZFX CRYGD CRYGEP LOC100507443 GC02P208116
GH02J208175 Enhancer 0.9 ENCODE 11 -50.9 -50913 0.2 ARID4B IRF4 YY1 ZNF143 ATF7 DEK RXRA MXD4 REST KAT8 IDH1-AS1 IDH1 CRYGB CRYGC CRYGD C2orf80 CRYGA GC02P208116
GH02J208101 Enhancer 0.7 Ensembl ENCODE 12.3 +22.7 22689 0.6 CTCF ZNF654 SMC3 MAFK RAD21 GC02M208099 CRYGD CRYGC IDH1-AS1 IDH1 CRYGB FZD5 CRYGEP GC02M208083 LOC105373854
GH02J208183 Enhancer 0.6 Ensembl 11.1 -59.4 -59412 0.8 FOXA2 RXRA GABPA SP1 JUND ATF3 CEBPA HNF4G POU5F1 FOXP2 IDH1-AS1 IDH1 CRYGB CRYGC CRYGD C2orf80 CRYGA GC02P208116
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CRYGD on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CRYGD gene promoter:
  • NF-1
  • Bach1
  • ATF6
  • CHOP-10
  • C/EBPalpha
  • PPAR-gamma1
  • E47
  • Tal-1beta
  • Evi-1
  • PPAR-gamma2

Genomic Locations for CRYGD Gene

Genomic Locations for CRYGD Gene
2,983 bases
Minus strand
2,983 bases
Minus strand

Genomic View for CRYGD Gene

Genes around CRYGD on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CRYGD Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CRYGD Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CRYGD Gene

Proteins for CRYGD Gene

  • Protein details for CRYGD Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Gamma-crystallin D
    Protein Accession:
    Secondary Accessions:
    • Q17RF7
    • Q53R51
    • Q99681

    Protein attributes for CRYGD Gene

    174 amino acids
    Molecular mass:
    20738 Da
    Quaternary structure:
    • Monomer.

    Three dimensional structures from OCA and Proteopedia for CRYGD Gene

neXtProt entry for CRYGD Gene

Post-translational modifications for CRYGD Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CRYGD Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CRYGD Gene

Domains & Families for CRYGD Gene

Gene Families for CRYGD Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for CRYGD Gene

Suggested Antigen Peptide Sequences for CRYGD Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Has a two-domain beta-structure, folded into four very similar Greek key motifs.
  • Belongs to the beta/gamma-crystallin family.
  • Has a two-domain beta-structure, folded into four very similar Greek key motifs.
  • Belongs to the beta/gamma-crystallin family.
genes like me logo Genes that share domains with CRYGD: view

Function for CRYGD Gene

Molecular function for CRYGD Gene

UniProtKB/Swiss-Prot Function:
Crystallins are the dominant structural components of the vertebrate eye lens.
GENATLAS Biochemistry:
crystallin,gamma polypeptide D

Gene Ontology (GO) - Molecular Function for CRYGD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005212 structural constituent of eye lens NAS 12507494
GO:0005515 protein binding IPI 8943244
genes like me logo Genes that share ontologies with CRYGD: view
genes like me logo Genes that share phenotypes with CRYGD: view

Human Phenotype Ontology for CRYGD Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CRYGD

Clone Products

  • Addgene plasmids for CRYGD

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CRYGD Gene

Localization for CRYGD Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CRYGD gene
Compartment Confidence
nucleus 5
extracellular 2
cytosol 2
plasma membrane 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytokinetic bridge (2)
  • Intermediate filaments (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CRYGD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS --
GO:0005737 cytoplasm ISS --
genes like me logo Genes that share ontologies with CRYGD: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for CRYGD Gene

Pathways & Interactions for CRYGD Gene

SuperPathways for CRYGD Gene

No Data Available

Gene Ontology (GO) - Biological Process for CRYGD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002088 lens development in camera-type eye ISS --
GO:0007601 visual perception IMP 9927684
GO:0034614 cellular response to reactive oxygen species IDA 8943244
GO:0050896 response to stimulus IEA --
GO:0070306 lens fiber cell differentiation ISS --
genes like me logo Genes that share ontologies with CRYGD: view

No data available for Pathways by source and SIGNOR curated interactions for CRYGD Gene

Drugs & Compounds for CRYGD Gene

(2) Drugs for CRYGD Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with CRYGD: view

Transcripts for CRYGD Gene

mRNA/cDNA for CRYGD Gene

(1) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(22) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CRYGD Gene

Crystallin, gamma D:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CRYGD

Clone Products

  • Addgene plasmids for CRYGD

Alternative Splicing Database (ASD) splice patterns (SP) for CRYGD Gene

No ASD Table

Relevant External Links for CRYGD Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CRYGD Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CRYGD Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CRYGD Gene

This gene is overexpressed in Ovary (x12.2), Brain - Amygdala (x5.2), Brain - Hypothalamus (x4.8), and Brain - Substantia nigra (x4.3).

Protein differential expression in normal tissues from HIPED for CRYGD Gene

This gene is overexpressed in Vitreous humor (68.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CRYGD Gene

Protein tissue co-expression partners for CRYGD Gene

NURSA nuclear receptor signaling pathways regulating expression of CRYGD Gene:


SOURCE GeneReport for Unigene cluster for CRYGD Gene:


Evidence on tissue expression from TISSUES for CRYGD Gene

  • Eye(4.6)
  • Nervous system(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CRYGD Gene

Germ Layers:
  • ectoderm
  • mesoderm
  • nervous
  • skeletal muscle
Head and neck:
  • brain
  • cranial nerve
  • eye
  • head
  • peripheral nervous system
genes like me logo Genes that share expression patterns with CRYGD: view

No data available for mRNA Expression by UniProt/SwissProt for CRYGD Gene

Orthologs for CRYGD Gene

This gene was present in the common ancestor of chordates.

Orthologs for CRYGD Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia CRYGD 34 33
  • 99.62 (n)
(Mus musculus)
Mammalia Crygd 16 34 33
  • 88.63 (n)
Cryge 34
  • 80 (a)
Crygf 34
  • 79 (a)
(Canis familiaris)
Mammalia CRYGD 34 33
  • 88.44 (n)
(Rattus norvegicus)
Mammalia Crygd 33
  • 88.44 (n)
(Bos Taurus)
Mammalia CRYGD 34
  • 86 (a)
(Monodelphis domestica)
Mammalia -- 34
  • 76 (a)
-- 34
  • 74 (a)
-- 34
  • 72 (a)
-- 34
  • 70 (a)
-- 34
  • 70 (a)
-- 34
  • 69 (a)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 65 (a)
-- 34
  • 62 (a)
(Danio rerio)
Actinopterygii crygmxl1 33
  • 64.52 (n)
si:dkey-57a22.15 34
  • 60 (a)
Dr.18937 33
Species where no ortholog for CRYGD was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CRYGD Gene

Gene Tree for CRYGD (if available)
Gene Tree for CRYGD (if available)
Evolutionary constrained regions (ECRs) for CRYGD: view image

Paralogs for CRYGD Gene

(16) SIMAP similar genes for CRYGD Gene using alignment to 1 proteins:

  • CRGD_HUMAN Pseudogenes for CRYGD Gene

genes like me logo Genes that share paralogs with CRYGD: view

Variants for CRYGD Gene

Sequence variations from dbSNP and Humsavar for CRYGD Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs113618781 likely-benign, Cataract 208,124,513(-) G/A 5_prime_UTR_variant
rs121909595 pathogenic, Cataract 4, Cataract 4, multiple types (CTRCT4) [MIM:115700] 208,124,321(-) G/A coding_sequence_variant, missense_variant
rs121909596 pathogenic, Cataract 4, Cataract 4, multiple types (CTRCT4) [MIM:115700] 208,124,188(-) C/T coding_sequence_variant, missense_variant
rs121909597 pathogenic, Cataract 4, Cataract 4, multiple types (CTRCT4) [MIM:115700] 208,124,255(-) G/A/T coding_sequence_variant, missense_variant
rs121909598 pathogenic, Cataract 4 208,121,728(-) C/T coding_sequence_variant, stop_gained

Structural Variations from Database of Genomic Variants (DGV) for CRYGD Gene

Variant ID Type Subtype PubMed ID
esv3594106 CNV gain 21293372
nsv508882 CNV insertion 20534489

Variation tolerance for CRYGD Gene

Residual Variation Intolerance Score: 77.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.70; 32.37% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CRYGD Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CRYGD Gene

Disorders for CRYGD Gene

MalaCards: The human disease database

(12) MalaCards diseases for CRYGD Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cataract 4, multiple types
  • ctrct4
cataract 29
  • ctrct29
cerulean cataract
  • cataract, congenital, blue dot type 1
cataract 16, multiple types
  • ctrct16
cataract 30, multiple types
  • ctrct30
- elite association - COSMIC cancer census association via MalaCards
Search CRYGD in MalaCards View complete list of genes associated with diseases


  • Cataract 4, multiple types (CTRCT4) [MIM:115700]: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT4 includes crystalline aculeiform, congenital cerulean and non-nuclear polymorphic cataracts, among others. Crystalline aculeiform cataract is characterized by fiberglass-like or needle-like crystals projecting in different directions, through or close to the axial region of the lens. Non-nuclear polymorphic cataract is a partial opacity with variable location between the fetal nucleus of the lens and the equator. The fetal nucleus is normal. The opacities are irregular and look similar to a bunch of grapes and may be present simultaneously in different lens layers. Congenital cerulean cataract is characterized by peripheral bluish and white opacifications organized in concentric layers with occasional central lesions arranged radially. The opacities are observed in the superficial layers of the fetal nucleus as well as the adult nucleus of the lens. Involvement is usually bilateral. Visual acuity is only mildly reduced in childhood. In adulthood, the opacifications may progress, making lens extraction necessary. Histologically the lesions are described as fusiform cavities between lens fibers which contain a deeply staining granular material. Although the lesions may take on various colors, a dull blue is the most common appearance and is responsible for the designation cerulean cataract. {ECO:0000269 PubMed:10521291, ECO:0000269 PubMed:10688888, ECO:0000269 PubMed:10915766, ECO:0000269 PubMed:11371638, ECO:0000269 PubMed:12011157, ECO:0000269 PubMed:12676897, ECO:0000269 PubMed:15709761, ECO:0000269 PubMed:16943771, ECO:0000269 PubMed:17564961, ECO:0000269 PubMed:21031598, ECO:0000269 PubMed:9927684}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for CRYGD

genes like me logo Genes that share disorders with CRYGD: view

No data available for Genatlas for CRYGD Gene

Publications for CRYGD Gene

  1. Conversion and compensatory evolution of the gamma-crystallin genes and identification of a cataractogenic mutation that reverses the sequence of the human CRYGD gene to an ancestral state. (PMID: 17564961) Plotnikova OV … Rogaev EI (American journal of human genetics 2007) 3 4 22 58
  2. Decrease in protein solubility and cataract formation caused by the Pro23 to Thr mutation in human gamma D-crystallin. (PMID: 15709761) Pande A … Pande J (Biochemistry 2005) 3 4 22 58
  3. A missense mutation in the gammaD crystallin gene (CRYGD) associated with autosomal dominant "coral-like" cataract linked to chromosome 2q. (PMID: 15041957) Mackay DS … Shiels A (Molecular vision 2004) 3 22 44 58
  4. Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts. (PMID: 12676897) Nandrot E … Hilal L (Journal of medical genetics 2003) 3 4 22 58
  5. Link between a novel human gammaD-crystallin allele and a unique cataract phenotype explained by protein crystallography. (PMID: 10915766) Kmoch S … Elleder M (Human molecular genetics 2000) 3 4 22 58

Products for CRYGD Gene

Sources for CRYGD Gene

Loading form....