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Aliases for CRYGD Gene

Aliases for CRYGD Gene

  • Crystallin, Gamma D 2 3
  • CRYG4 3 4 6
  • Gamma-Crystallin 4 3 4
  • Gamma-D-Crystallin 3 4
  • CTRCT4 3 6
  • CACA 3 6
  • CCA3 3 6
  • PCC 3 6
  • Gamma Crystallin 4 3
  • Gamma-Crystallin D 3
  • Cry-G-D 3
  • CCP 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 coralliform cataract. GO annotations related to this gene include structural constituent of eye lens. An important paralog of this gene is CRYGC.

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

Genomic Location for CRYGD Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for CRYGD Gene at MOPED

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 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 :
  • P07320
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

No data available for Gene Families for CRYGD Gene

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 22289178
genes like me logo Genes that share ontologies with CRYGD: view

Phenotypes for CRYGD Gene

MGI mutant phenotypes for CRYGD:
inferred from 6 alleles
GenomeRNAi human phenotypes for CRYGD:
genes like me logo Genes that share phenotypes with CRYGD: view

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

Localization for CRYGD Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CRYGD Gene COMPARTMENTS Subcellular localization image for CRYGD gene
Compartment Confidence
nucleus 4
cytosol 2
extracellular 2
chloroplast 1
plasma membrane 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 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 12011157
GO:0034614 cellular response to reactive oxygen species IDA 8943244
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 for CRYGD Gene

Compounds for CRYGD Gene

(2) Novoseek inferred chemical compound relationships for CRYGD Gene

Compound -log(P) Hits PubMed IDs
proline 35.1 1
threonine 29.8 1
genes like me logo Genes that share compounds with CRYGD: view

Transcripts for CRYGD Gene

mRNA/cDNA for CRYGD Gene

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

Unigene Clusters for CRYGD Gene

Crystallin, gamma D:
Representative Sequences:

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 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 (12.2), Brain - Amygdala (5.2), Brain - Hypothalamus (4.8), and Brain - Substantia nigra (4.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for CRYGD Gene

SOURCE GeneReport for Unigene cluster for CRYGD Gene Hs.546247

genes like me logo Genes that share expressions 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
chimpanzee
(Pan troglodytes)
Mammalia CRYGD 35
  • 99.62 (n)
  • 100 (a)
CRYGD 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CRYGD 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CRYGD 35
  • 88.44 (n)
  • 85.55 (a)
CRYGD 36
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Crygd 35
  • 88.63 (n)
  • 84.97 (a)
Crygd 16
Crygd 36
  • 84 (a)
OneToMany
Cryge 36
  • 80 (a)
OneToMany
Crygf 36
  • 79 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 72 (a)
ManyToMany
-- 36
  • 69 (a)
ManyToMany
-- 36
  • 70 (a)
ManyToMany
-- 36
  • 70 (a)
ManyToMany
-- 36
  • 76 (a)
ManyToMany
-- 36
  • 74 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 65 (a)
ManyToMany
-- 36
  • 62 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Crygd 35
  • 88.44 (n)
  • 85.55 (a)
zebrafish
(Danio rerio)
Actinopterygii crygmxl1 35
  • 64.52 (n)
  • 60.82 (a)
Dr.18937 35
si:dkey-57a22.15 36
  • 60 (a)
ManyToMany
Species with no ortholog for CRYGD:
  • 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

Selected 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 MAF
VAR_010733 Cataract 4, multiple types (CTRCT4)
VAR_010734 Cataract 4, multiple types (CTRCT4)
VAR_010735 Cataract 4, multiple types (CTRCT4)
VAR_021145 Cataract 4, multiple types (CTRCT4)
VAR_021146 -

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

Variant ID Type Subtype PubMed ID
nsv875744 CNV Loss 21882294
nsv508882 CNV Insertion 20534489
dgv4417n71 CNV Loss 21882294

Relevant External Links for CRYGD Gene

HapMap Linkage Disequilibrium report
CRYGD
Human Gene Mutation Database (HGMD)
CRYGD
Locus Specific Mutation Databases (LSDB)
CRYGD

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

Disorders for CRYGD Gene

(1) OMIM Diseases for CRYGD Gene (123690)

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.

(3) Novoseek inferred disease relationships for CRYGD Gene

Disease -log(P) Hits PubMed IDs
congenital cataract 91.3 6
cataract 77.9 22
nuclear cataract 77.1 3

Relevant External Links for CRYGD

Genetic Association Database (GAD)
CRYGD
genes like me logo Genes that share disorders with CRYGD: view

Publications for CRYGD Gene

  1. The gamma-crystallins and human cataracts: a puzzle made clearer. (PMID: 10521291) Heon E. … Munier F.L. (Am. J. Hum. Genet. 1999) 3 4 23
  2. 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 23
  3. Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts. (PMID: 12676897) Nandrot E. … Hilal L. (J. Med. Genet. 2003) 3 4 23
  4. 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 23 48
  5. 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 23

Products for CRYGD Gene

Sources for CRYGD Gene

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