Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



CRYGD Gene

protein-coding   GIFtS: 54
GCID: GC02M208986

Crystallin, Gamma D


(Previous symbol: CRYG4)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

TryGeneCards Plus

Aliases
Crystallin, Gamma D1 2     CCP2
CRYG41 2 3 5     cry-g-D2
Gamma-Crystallin 42 3     Gamma Crystallin 42
CACA2 5     gamma-D-crystallin2
CCA32 5     Gamma-Crystallin D2
CTRCT42 5     Gamma-D-crystallin3
PCC2 5     

External Ids:    HGNC: 24111   Entrez Gene: 14212   Ensembl: ENSG000001182317   OMIM: 1236905   UniProtKB: P073203   

Export aliases for CRYGD gene to outside databases

Previous GC identifers: GC02M207153 GC02M207698 GC02M208950 GC02M209189 GC02M209190 GC02M208811 GC02M208694 GC02M200834


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

TryGeneCards Plus

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 3, multiple types. GO annotations related to this gene include structural constituent of eye lens. An important paralog of this gene is CRYBB3.

UniProtKB/Swiss-Prot: CRGD_HUMAN, P07320
Function: Crystallins are the dominant structural components of the vertebrate eye lens

Gene Wiki entry for CRYGD (Crystallin, gamma D) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence:
NC_000002.12  NC_018913.2  NT_005403.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the CRYGD gene promoter:
         Bach1   NF-1   Tal-1beta   Evi-1   E47   C/EBPalpha   CHOP-10   PPAR-gamma1   PPAR-gamma2   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCRYGD promoter sequence
   Search Chromatin IP Primers for CRYGD

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CRYGD


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q33.3   Ensembl cytogenetic band:  2q33.3   HGNC cytogenetic band: 2q33.3

CRYGD Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CRYGD gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M208986:  view genomic region     (about GC identifiers)

Start:
208,986,331 bp from pter      End:
208,989,313 bp from pter
Size:
2,983 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: CRGD_HUMAN, P07320 (See protein sequence)
Recommended Name: Gamma-crystallin D  
Size: 174 amino acids; 20738 Da
Subunit: Monomer
Selected PDB 3D structures from and Proteopedia for CRYGD (see all 8):
1H4A (3D)        1HK0 (3D)        1LD0 (3D)        2G98 (3D)        2KFB (3D)        2KLJ (3D)    
Secondary accessions: Q17RF7 Q53R51 Q99681

Explore the universe of human proteins at neXtProt for CRYGD: NX_P07320

Explore proteomics data for CRYGD at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CRYGD Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_008822.2  
    ENSEMBL proteins: 
     ENSP00000264376  

    CRYGD Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for CRYGD
    OriGene Protein Over-expression Lysate for CRYGD
    OriGene MassSpec for CRYGD
    OriGene Custom Protein Services for CRYGD
    GenScript Custom Purified and Recombinant Proteins Services for CRYGD
    Novus Biologicals CRYGD Proteins
    Novus Biologicals CRYGD Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for CRYGD
    Browse Proteins at Cloud-Clone Corp.

    CRYGD Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for CRYGD
    Novus Biologicals CRYGD Antibodies
    Abcam antibodies for CRYGD
    Browse Antibodies at Cloud-Clone Corp.
    Search ThermoFisher Antibodies for CRYGD
    LSBio Antibodies in human, mouse, rat for CRYGD

    CRYGD Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for CRYGD
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for CRYGD
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    2 InterPro protein domains:
     IPR001064 Beta/gamma_crystallin
     IPR011024 G_crystallin-rel

    Graphical View of Domain Structure for InterPro Entry P07320

    ProtoNet protein and cluster: P07320

    2 Blocks protein domains:
    IPB001064 Beta and gamma crystallin
    IPB011024 Gamma-crystallin related


    UniProtKB/Swiss-Prot: CRGD_HUMAN, P07320
    Domain: Has a two-domain beta-structure, folded into four very similar Greek key motifs
    Similarity: Belongs to the beta/gamma-crystallin family
    Similarity: Contains 4 beta/gamma crystallin 'Greek key' domains


    CRYGD for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CRGD_HUMAN, P07320
    Function: Crystallins are the dominant structural components of the vertebrate eye lens

         Genatlas biochemistry entry for CRYGD:
    crystallin,gamma polypeptide D

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005212structural constituent of eye lens NAS12507494
    GO:0005515protein binding IPI--
         
    CRYGD for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for CRYGD:
     Decreased circadian period len 

         1 MGI mutant phenotype (inferred from 6 alleles(MGI details for Crygd):
     vision/eye 

    CRYGD for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CRYGD
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CRYGD

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CRYGD
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CRYGD

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat CRYGD using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate CRYGD:
    hsa-miR-873
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for CRYGD
    Predesigned siRNA for gene silencing in human, mouse, rat CRYGD

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for CRYGD

    Clone
    Products:
         
    OriGene clones in human, mouse for CRYGD (see all 5)
    OriGene ORF clones in mouse, rat for CRYGD
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CRYGD (NM_006891)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CRYGD
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CRYGD

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for CRYGD
    Browse ESI BIO Cell Lines and PureStem Progenitors for CRYGD 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CRYGD


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus4
    cytosol2
    extracellular2
    chloroplast1
    plasma membrane1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ISS--
    GO:0005737cytoplasm ISS--

    CRYGD for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus



        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CRYGD
    Interactions:

        Search GeneGlobe Interaction Network for CRYGD

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    Selected Interacting proteins for CRYGD (P073201, 2 ENSP000002643764) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MYH3ENSP000002262094STRING: ENSP00000226209
    NEURL2ENSP000003615964STRING: ENSP00000361596
    CryaaP246231, 2EBI-7673124,EBI-7673244 MINT-8303127 MINT-8303079
    CryabP239271, 2EBI-7673124,EBI-299046 MINT-8303035 MINT-8303102
    --P239271, 2EBI-7673124,EBI-299046 MINT-8303035 MINT-8303102
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002088lens development in camera-type eye ISS--
    GO:0007601visual perception IMP12011157
    GO:0034614cellular response to reactive oxygen species IDA8943244
    GO:0070306lens fiber cell differentiation ISS--

    CRYGD for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CRYGD (CRGD)

    2 Novoseek inferred chemical compound relationships for CRYGD gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    proline 35.1 2 15041957 (1)
    threonine 29.8 2 15041957 (1)



    CRYGD for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for CRYGD gene: 
    NM_006891.3  

    Unigene Cluster for CRYGD:

    Crystallin, gamma D
    Hs.546247  [show with all ESTs]
    Unigene Representative Sequence: CD049752
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000264376(uc002vcn.4 uc021vvu.1)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat CRYGD using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate CRYGD:
    hsa-miR-873
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for CRYGD
    Predesigned siRNA for gene silencing in human, mouse, rat CRYGD
    Clone
    Products:
         
    OriGene clones in human, mouse for CRYGD (see all 5)
    OriGene ORF clones in mouse, rat for CRYGD
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CRYGD (NM_006891)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CRYGD
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CRYGD
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for CRYGD
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CRYGD
      QuantiTect SYBR Green Assays in human, mouse, rat CRYGD
      QuantiFast Probe-based Assays in human, mouse, rat CRYGD

    Additional mRNA sequence: 

    BC117338.1 BC117340.1 U66583.1 

    1 DOTS entry:

    DT.87046545 

    22 AceView cDNA sequences:

    BM696817 BF727389 CD674533 BM670210 BF726365 BF726635 U66583 BM670075 
    CD674683 BM712147 BM699428 BF726960 CD675943 BF727444 CD676210 NM_006891 
    BU735399 BF727241 BG152794 CD049752 BX282705 BU734844 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    CRYGD expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGGAAGATCA
    CRYGD Expression
    About this image


    CRYGD expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 5 entries
             Zeugopod Long Bone
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             Secondary Lens Fiber Cells Lens
             Lens
     
     Limb (Muscoskeletal System)    fully expand to see all 2 entries
             Pelvic Girdle
     
     Epithelial Cells
             Secondary Lens Fiber Cells Lens
     
     Cartilage (Muscoskeletal System)
             Meckel's Cartilage
    CRYGD Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CRYGD Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.546247
        Custom PCR Arrays for CRYGD
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for CRYGD
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CRYGD
    QuantiTect SYBR Green Assays in human, mouse, rat CRYGD
    QuantiFast Probe-based Assays in human, mouse, rat CRYGD
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CRYGD

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    TryGeneCards Plus

    This gene was present in the common ancestor of chordates.

    Orthologs for CRYGD gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Crygd1 , 5 crystallin, gamma D1, 5 88.63(n)1
    84.97(a)1
      1 (32.80 cM)5
    129671  NM_007776.21  NP_031802.21 
     650618725 
    African clawed frog
    (Xenopus laevis)
    Amphibia CB198197.22   -- 75.3(n)    CB198197.2 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.189372 Transcribed sequence with weak similarity to protein more 72.01(n)    CK352454.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for CRYGD gene
    CRYBB32  CRYGB2  CRYBA42  CRYBA12  CRYBB22  CRYGA2  CRYBB12  CRYGC2  
    CRYBA22  CRYGN2  CRYGS2  
    16 SIMAP similar genes for CRYGD using alignment to 1 protein entry:     CRGD_HUMAN:
    CRYGB    CRYGC    CRYGA    CRYGS    DKFZp434A0627    CRYBA1
    CRYBB3    CRYGN    CRYBB1    CRYBB2    CRYBA4    AIM1
    DKFZp434L1713    AIM1L    CRYBA2    CRYBG3

    CRYGD for paralogs           About GeneDecksing


    4 Pseudogenes.org Pseudogenes for CRYGD
    PGOHUM00000240041 PGOHUM00000240506 PGOHUM00000241095 PGOHUM00000233083


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Selected SNPs for CRYGD (see all 158)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289316051,2,,4
    CCataract 4, multiple types (CTRCT4)4 pathogenic1208377460(-) ACCACA/C/TCCAAC 3 T P S mis1 ese30--------
    VAR_0648294
    Cataract 4, multiple types (CTRCT4)4--see VAR_0648292 W R mis40--------
    VAR_0211454
    Cataract 4, multiple types (CTRCT4)4--see VAR_0211452 P T mis40--------
    VAR_0107344
    Cataract 4, multiple types (CTRCT4)4--see VAR_0107342 R S mis40--------
    VAR_0107354
    Cataract 4, multiple types (CTRCT4)4--see VAR_0107352 R H mis40--------
    VAR_0349564
    Cataract 4, multiple types (CTRCT4)4--see VAR_0349562 E A mis40--------
    VAR_0107334
    Cataract 4, multiple types (CTRCT4)4--see VAR_0107332 R C mis40--------
    rs23054301,2
    C,F,Huntested1208375084(+) TCCTCC/TCTCTC 2 R syn1 ese3 trp330Minor allele frequency- T:0.19EA NA NS WA CSA EU 9816
    rs22420741,2
    C,F,Huntested1208377479(+) CATTCG/ATAGTG 2 /Y syn1 ese325Minor allele frequency- A:0.39NS EA NA CSA WA EU 5502
    rs2001903761,2
    --200836351(+) TTTAA-/AATAT 
            
    AATAT
    1 -- int10--------

    HapMap Linkage Disequilibrium report for CRYGD (208986331 - 208989313 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for CRYGD:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv508882CNV Insertion20534489
    dgv4417n71CNV Loss21882294
    nsv875744CNV Loss21882294

    Human Gene Mutation Database (HGMD): CRYGD
    Locus Specific Mutation Databases (LSDB): CRYGD

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CRYGD
    DNA2.0 Custom Variant and Variant Library Synthesis for CRYGD

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 123690   
    OMIM disorders: 115700  
    UniProtKB/Swiss-Prot: CRGD_HUMAN, P07320
  • 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. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • 13 diseases for CRYGD:    
    About MalaCards
    cataract 4, multiple types    cataract 3, multiple types    cataract 23    cataract
    cataract, congenital    cataract 1, multiple types    cerulean cataract    posterior polar cataract
    impotence    cataracts, autosomal dominant    blindness    multiple myeloma
    myeloma


    CRYGD for disorders           About GeneDecksing

    3 Novoseek inferred disease relationships for CRYGD gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    congenital cataract 91.3 6 19390652 (2), 17564961 (1), 16030500 (1), 17217786 (1) (see all 5)
    cataract 77.9 28 16030500 (4), 19633732 (2), 10521291 (2), 12676897 (2) (see all 14)
    nuclear cataract 77.1 3 19390652 (1), 17217786 (1), 18079686 (1)

    Genetic Association Database (GAD): CRYGD

    Export disorders for CRYGD gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    TryGeneCards Plus

    PubMed articles for CRYGD gene, integrated from 10 sources (see all 97):
    (articles sorted by number of sources associating them with CRYGD)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A missense mutation in the gammaD crystallin gene (CRYGD) associated with autosomal dominant &quot;coral-like&quot; cataract linked to chromosome 2q. (PubMed id 15041957)1, 4, 9 Mackay D.S....Shiels A. (Mol. Vis. 2004)
    2. Link between a novel human gamma-D-crystallin allele and a unique cataract phenotype explained by protein crystallography. (PubMed id 10915766)1, 2, 9 Kmoch S.... Elleder M. (Hum. Mol. Genet. 2000)
    3. The gamma-crystallins and human cataracts: a puzzle made clearer. (PubMed id 10521291)1, 2, 9 Heon E.... Munier F.L. (Am. J. Hum. Genet. 1999)
    4. 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. (PubMed id 17564961)1, 2, 9 Plotnikova O.V.... Rogaev E.I. (Am. J. Hum. Genet. 2007)
    5. Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts. (PubMed id 12676897)1, 2, 9 Nandrot E.... Hilal L. (J. Med. Genet. 2003)
    6. Decrease in protein solubility and cataract formation caused by the Pro23 to Thr mutation in human gamma D-crystallin. (PubMed id 15709761)1, 2, 9 Pande A.... Pande J. (Biochemistry 2005)
    7. A novel CRYGD mutation (p.Trp43Arg) causing autosomal dominant congenital cataract in a Chinese family. (PubMed id 21031598)1, 2 Wang B.... Xie L. (Hum. Mutat. 2011)
    8. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W.... Wilson R.K. (Nature 2005)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    10. High-resolution X-ray crystal structures of human gammaD crystallin (1.25 A) and the R58H mutant (1.15 A) associated with aculeiform cataract. (PubMed id 12729747)1, 2 Basak A.... Pande J. (J. Mol. Biol. 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 1421 HGNC: 2411 AceView: CRYGD Ensembl:ENSG00000118231 euGenes: HUgn1421
    ECgene: CRYGD H-InvDB: CRYGD

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for CRYGD Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=CRYGD[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for CRYGD gene:
    Search GeneIP for patents involving CRYGD

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for CRYGD  
     Browse OriGene qPCR primer pairs and template standards   OriGene Protein Over-expression Lysate for CRYGD  
     OriGene MassSpec something-or-other for CRYGD   OriGene clones in human, mouse for CRYGD  
     OriGene qSTAR qPCR primer pairs in human, mouse for CRYGD   OriGene Purified Protein for CRYGD  
     OriGene ORF clones in mouse, rat for CRYGD   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for CRYGD   OriGene Custom Protein Services for CRYGD  

     
     
     Block miRNA regulation of human, mouse, rat CRYGD using miScript Target Protectors SeqTarget long-range PCR primers for resequencing CRYGD
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CRYGD Predesigned siRNA for gene silencing in human, mouse, rat CRYGD
     QuantiFast Probe-based Assays in human, mouse, rat CRYGD QuantiTect SYBR Green Assays in human, mouse, rat CRYGD
     Custom PCR Arrays for CRYGD Search Chromatin IP Primers for CRYGD
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CRYGD  Search GeneGlobe Interaction Network for CRYGD
     Regulatory tfbs in CRYGD promoter
     GenScript Custom Purified and Recombinant Proteins Services for CRYGD GenScript cDNA clones with any tag delivered in your preferred vector for CRYGD
     GenScript Custom Assay Services for CRYGD GenScript Custom overexpressing Cell Line Services for CRYGD
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for CRYGD (CRGD)
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     CRYGD antibodies
     CRYGD proteins
     CRYGD lysates
     Antibodies for CRYGD
     See all of Abcam's Antibodies, Kits and Proteins for CRYGD
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Recombinant Protein for CRYGD
     Browse Proteins at Cloud-Clone Corp.
     Browse Antibodies at Cloud-Clone Corp.
     Browse ELISAs at Cloud-Clone Corp.
     Browse CLIAs at Cloud-Clone Corp.



     Browse ESI BIO Cell Lines and PureStem Progenitors for CRYGD
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CRYGD
     Browse SwitchGear 3'UTR luciferase reporter plasmids for CRYGD
     SwitchGear Promoter luciferase reporter plasmids for CRYGD
     Search ThermoFisher Antibodies for CRYGD
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CRYGD
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CRYGD
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CRYGD
     LSBio Antibodies in human, mouse, rat for CRYGD
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      CRYGD gene at Home site.
    Version: 3.12.166 28 Aug 2014
    hostname: 356977-web1.xennexinc.com index build: 126 solr: 1.4