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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, Coralliform. 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

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

Genomics for CRYGD Gene

Regulatory Elements for CRYGD Gene

Enhancers for CRYGD Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02F208175 0.9 Ensembl 11 -50.7 -50712 0.2 ELF3 CBX3 ATF1 ARID4B ZSCAN9 RAD21 RARA RFX5 YY1 ZNF143 IDH1-AS1 IDH1 CRYGB CRYGC CRYGD C2orf80 CRYGA
GH02F208176 0.9 ENCODE 11 -50.9 -50913 0.2 ELF3 CBX3 ATF1 ARID4B ZSCAN9 RAD21 RARA RFX5 YY1 ZNF143 IDH1-AS1 IDH1 CRYGB CRYGC CRYGD C2orf80 CRYGA
GH02F207747 0.9 ENCODE 10.3 +376.7 376704 2.6 ELF3 ZNF48 RAD21 CHAMP1 RARA CREM THAP11 SP5 PPARG KAT8 FZD5 METTL21A PLEKHM3 CRYGD CRYGC IDH1 IDH1-AS1 CRYGB ENSG00000272851 MIR4775
GH02F208172 0.8 Ensembl 11 -48.0 -48012 1.2 HDAC1 ATF1 RARA ZNF316 NCOR1 NFE2 MAFK STAT1 L3MBTL2 BHLHE40 IDH1-AS1 IDH1 CRYGB CRYGC CRYGD C2orf80 CRYGA
GH02F208102 0.6 ENCODE 12.3 +22.5 22478 0.2 CTCF ZNF654 MBD1 SMC3 KLF9 RAD21 MAFK CRYGD CRYGC IDH1-AS1 IDH1 CRYGB FZD5 GC02M208099 LOC105373854
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CRYGD on UCSC Golden Path with GeneCards custom track

Promoters for CRYGD Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001831980 189 401 L3MBTL2

Genomic Location for CRYGD Gene

Chromosome:
2
Start:
208,121,607 bp from pter
End:
208,124,589 bp from pter
Size:
2,983 bases
Orientation:
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:
    P07320-CRGD_HUMAN
    Recommended name:
    Gamma-crystallin D
    Protein Accession:
    P07320
    Secondary Accessions:
    • Q17RF7
    • Q53R51
    • Q99681

    Protein attributes for CRYGD Gene

    Size:
    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:

Antibody Products

  • Abcam antibodies for CRYGD

No data available for DME Specific Peptides for CRYGD Gene

Domains & Families for CRYGD Gene

Gene Families for CRYGD Gene

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

P07320

UniProtKB/Swiss-Prot:

CRGD_HUMAN :
  • Has a two-domain beta-structure, folded into four very similar Greek key motifs.
  • Belongs to the beta/gamma-crystallin family.
Domain:
  • Has a two-domain beta-structure, folded into four very similar Greek key motifs.
  • Contains 4 beta/gamma crystallin Greek key domains.
Family:
  • 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

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

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

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

Localization for CRYGD Gene

Subcellular locations from

COMPARTMENTS
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
cytoskeleton 1

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

Interacting Proteins for CRYGD Gene

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:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for CRYGD Gene

GeneLoc Exon Structure for
CRYGD
ECgene alternative splicing isoforms for
CRYGD

Expression for CRYGD Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, PaxDb, MaxQB, and MOPED for CRYGD Gene



Protein tissue co-expression partners for CRYGD Gene

NURSA nuclear receptor signaling pathways regulating expression of CRYGD Gene:

CRYGD

SOURCE GeneReport for Unigene cluster for CRYGD Gene:

Hs.546247
genes like me logo Genes that share expression patterns with CRYGD: view

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia CRYGD 34 35
  • 99.62 (n)
mouse
(Mus musculus)
Mammalia Crygd 34 16 35
  • 88.63 (n)
Cryge 35
  • 80 (a)
OneToMany
Crygf 35
  • 79 (a)
OneToMany
dog
(Canis familiaris)
Mammalia CRYGD 34 35
  • 88.44 (n)
rat
(Rattus norvegicus)
Mammalia Crygd 34
  • 88.44 (n)
cow
(Bos Taurus)
Mammalia CRYGD 35
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 76 (a)
ManyToMany
-- 35
  • 74 (a)
ManyToMany
-- 35
  • 72 (a)
ManyToMany
-- 35
  • 70 (a)
ManyToMany
-- 35
  • 70 (a)
ManyToMany
-- 35
  • 69 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 65 (a)
ManyToMany
-- 35
  • 62 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii crygmxl1 34
  • 64.52 (n)
si:dkey-57a22.15 35
  • 60 (a)
ManyToMany
Dr.18937 34
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

ENSEMBL:
Gene Tree for CRYGD (if available)
TreeFam:
Gene Tree for CRYGD (if available)

Paralogs for CRYGD Gene

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

Pseudogenes.org 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 Sequence Context AA Info Type
rs121909595 Cataract 4, multiple types (CTRCT4) [MIM:115700], Pathogenic 208,124,321(-) AGGGC(C/T)GCCAC intron-variant, reference, missense
rs121909596 Cataract 4, multiple types (CTRCT4) [MIM:115700], Pathogenic 208,124,188(-) CCTGC(A/G)CCGCG intron-variant, reference, missense
rs121909597 Cataract 4, multiple types (CTRCT4) [MIM:115700], Pathogenic 208,124,255(-) CGGCG(A/C)GCGTG intron-variant, reference, missense
rs28931605 Cataract 4, multiple types (CTRCT4) [MIM:115700], Cataract 4, multiple types (CTRCT4) [MIM:115700], Pathogenic 208,124,294(-) ACCAC(A/C/T)CCAAC intron-variant, reference, missense
VAR_034956 Cataract 4, multiple types (CTRCT4) [MIM:115700]

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)

Relevant External Links for CRYGD Gene

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

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: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cataract 4, multiple types
  • pheochromocytoma
cataract 29, coralliform
  • cataract 29
cataract 9, multiple types
  • cataract 9 multiple types
cerulean cataract
  • cca1
cataract microcornea syndrome
  • microcornea cataract syndrome
- elite association - COSMIC cancer census association via MalaCards
Search CRYGD in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CRGD_HUMAN
  • 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:10915766, ECO:0000269 PubMed:12011157, ECO:0000269 PubMed:12676897, 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.

Relevant External Links for CRYGD

Genetic Association Database (GAD)
CRYGD
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 O.V. … Rogaev E.I. (Am. J. Hum. Genet. 2007) 3 4 22 64
  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 64
  3. A missense mutation in the gammaD crystallin gene (CRYGD) associated with autosomal dominant "coral-like" cataract linked to chromosome 2q. (PMID: 15041957) Mackay D.S. … Shiels A. (Mol. Vis. 2004) 3 22 46 64
  4. Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts. (PMID: 12676897) Nandrot E. … Hilal L. (J. Med. Genet. 2003) 3 4 22 64
  5. Link between a novel human gamma-D-crystallin allele and a unique cataract phenotype explained by protein crystallography. (PMID: 10915766) Kmoch S. … Elleder M. (Hum. Mol. Genet. 2000) 3 4 22 64

Products for CRYGD Gene

Sources for CRYGD Gene

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