Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CRYGD Gene

protein-coding   GIFtS: 52
GCID: GC02M208986

crystallin, gamma D


(Previous symbol: CRYG4)
 Explore 11 diseases affiliated with
CRYGD via our new
 Human Malady Compendium 
Biological research products
for CRYGD
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Crystallin, Gamma D1 2     Cry-G-D1
CRYG41 2 3 5     Gamma Crystallin 42
Gamma-Crystallin 42 3     Gamma-D-Crystallin1
CCP2 5     Gamma-Crystallin D2
CACA2     Gamma-D-Crystallin1
CCA32     

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

Entrez Gene summary for CRYGD:
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)

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)


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.1  NT_005403.17  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for CRYGD

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CRGD_HUMAN, P07320 (See protein sequence)
Recommended Name: Gamma-crystallin D  
Size: 174 amino acids; 20738 Da
Subunit: Monomer (By similarity)
6/7 PDB 3D structures from and Proteopedia for CRYGD (see all 7):
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P07320

  • CRYGD Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_008822.2  
    ENSEMBL proteins: 
     ENSP00000264376  

    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: CRYGD
    OriGene Protein Over-expression Lysate: 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
    ProSpec Recombinant Protein for CRYGD
    Uscn Proteins for CRYGD

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005625soluble fraction ----
    GO:0005634nucleus ISS--
    GO:0005737cytoplasm ISS--


    CRYGD for ontologies           About GeneDecksing



    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 
    GenScript Custom Superior Antibodies Services for CRYGD
    Novus Biologicals CRYGD Antibodies
    Search for Antibodies for CRYGD at Abcam  
    Uscn Antibodies for CRYGD
    Search ThermoFisher Antibodies for CRYGD

    Assay Products for CRYGD: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for CRYGD
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for CRYGD


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

    CRYGD for domains           About GeneDecksing

    2 InterPro domains/families:
     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 families:
    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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

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

         Genatlas biochemistry entry for CRYGD:
    crystallin,gamma polypeptide D

    miRNA
    Products:
        
    Browse 3'-UTR reporter clones for miRNA target validation
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CRYGD
    1 QIAGEN miScript miRNA Assays for microRNA that regulate CRYGD:
    hsa-miR-873
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CRYGD (see all 4)
    OriGene shRNA RFP: CRYGD
    OriGene siRNA: CRYGD
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CRYGD

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

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CRYGD (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, 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
    Search LifeMap BioReagents cell lines for CRYGD

    In Situ Assay
    Products:
       

     
    Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for CRYGD

    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005212structural constituent of eye lens NAS12507494
    GO:0005515protein binding IPI8943244


    CRYGD for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for CRYGD:
     Decreased circadian period len 

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

    CRYGD for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CRYGD

    2 Interacting proteins for CRYGD (P073202) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    --P239272MINT-8303035 MINT-8303102
    --P246232MINT-8303127 MINT-8303079
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002088lens development in camera-type eye ISS--
    GO:0007601visual perception IMP9927684
    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 HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    CRYGD for compounds           About GeneDecksing

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

    Browse Tocris compounds for CRYGD
    2 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about CRYGD / CRGD 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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:
         
    Browse 3'-UTR reporter clones for miRNA target validation
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CRYGD
    1 QIAGEN miScript miRNA Assays for microRNA that regulate CRYGD:
    hsa-miR-873
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CRYGD (see all 4)
    OriGene shRNA RFP: CRYGD
    OriGene siRNA: CRYGD
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CRYGD
    Clone
    Products:
         
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CRYGD (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, 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 genome-wide validated SYBR primer pairs in human, mouse, rat for CRYGD
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat CRYGD
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CRYGD
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CRYGD

    Additional cDNA sequence: 

    BC117338.1 BC117340.1 U66583.1 

    1 DOTS entry:

    DT.87046545 

    22 AceView cDNA sequences:

    BM670210 BF727444 CD674533 CD676210 BF726365 CD675943 BM670075 BM699428 
    CD674683 BF727389 NM_006891 BM712147 BF726635 BM696817 U66583 BF726960 
    BF727241 BU735399 CD049752 BG152794 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CRYGD expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GGGAAGATCA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    CRYGD expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    7 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BoneEndochondral Facial BonesBone
    BoneStylopod Long BoneBone
    BoneThoracic RibBone
    BoneZeugopod Long BoneBone
    CartilageMeckel's CartilageCartilage
    EyeLensEye
    LimbAutopodLimb
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See CRYGD Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CRYGD

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

     
    Search Advanced Cell Diagnostics for 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

    This gene was present in the common ancestor of chordates.

    Orthologs for CRYGD gene from 2/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    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
    Paralogs for CRYGD gene
    CRYBB32  CRYGB2  CRYBA42  CRYBA12  CRYBB22  CRYGA2  CRYBB12  CRYGC2  
    CRYGN2  CRYBA22  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, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/121 NCBI SNPs in CRYGD are shown (see all 121    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289316051,2
    Cpathogenic200837472(-) ACCACA/C/TCCAAC 3 T P S mis1 ese30--------
    rs23054301,2
    C,F,H,untested208986637(+) TCCTCC/TCTCTC 3 R int1 syn1 ese3 trp330Minor allele frequency- T:0.19EA NA NS WA CSA EU 9816
    rs175381941,2
    C,F,H,--200834295(+) ACCATC/GTCTTC 1 -- ds50018Minor allele frequency- G:0.02NA NS EA 680
    rs9669311,2
    C,F,O,H,--200834339(+) GATGGC/TCAGAG 1 -- ds50019Minor allele frequency- T:0.02NS EA NA 682
    rs780811661,2
    --200835292(+) AGATTC/AAGTAC 1 -- int11Minor allele frequency- A:0.50NA 2
    rs766193081,2
    --200836735(+) AATGGA/TGGAAG 1 -- int10--------
    rs787441861,2
    F,--200836885(+) CCAAAA/TTATGC 1 -- int11Minor allele frequency- T:0.03WA 118
    rs1128797241,2
    --200836917(+) AAAAGT/CCTCAA 1 -- int12Minor allele frequency- C:0.04CSA WA 120
    rs797921821,2
    F,--200838452(+) TTGAGG/AAAATT 1 -- us2k11Minor allele frequency- A:0.03WA 118
    rs739865181,2
    C,--200838494(+) ATGATC/ATCTTA 1 -- us2k12Minor allele frequency- A:0.04WA 120

    HapMap Linkage Disequilibrium report for CRYGD (208986331 - 208989313 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for CRYGD: --
    Human Gene Mutation Database (HGMD): CRYGD

    Locus Specific Mutation Databases (LSDB): CRYGD

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat 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

    CRYGD for disorders           About GeneDecksing

    OMIM gene information: 123690   
    OMIM disorders: 115700  608983  601286  
    UniProtKB/Swiss-Prot: CRGD_HUMAN, P07320
  • Defects in CRYGD are a cause of cataract autosomal dominant (ADC) [MIM:604219]. Cataract is 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. In general, the more
    posteriorly located and dense an opacity, the greater the impact on visual function. Cataract is the most common
    treatable cause of visual disability in childhood
  • Defects in CRYGD are the cause of cataract congenital non-nuclear polymorphic autosomal dominant (CCP)
  • [MIM:601286]; also known as polymorphic congenital cataract. A congenital cataract characterized by a non-progressive
    phenotype and partial opacity that has a 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
  • Defects in CRYGD are the cause of cataract congenital cerulean type 3 (CCA3) [MIM:608983]; also known as
  • congenital cataract blue dot type 3. A cerulean form of autosomal dominant congenital cataract. 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
  • Defects in CRYGD are the cause of cataract crystalline aculeiform (CACA) [MIM:115700]. A congenital
  • crystalline cataract characterized by fiberglass-like or needle-like crystals projecting in different directions,
    through or close to the axial region of the lens. The opacity causes a variable degree of vision loss

    11 diseases for CRYGD:    About MalaCards
    cataracts, punctate, progressive juvenile-onset    cataract, crystalline aculeiform    cataract    cataract, nonnuclear polymorphic congenital
    cataract, congenital, cerulean type, 3    posterior polar cataract    cerulean cataract    cataracts, autosomal dominant
    congenital cataracts    impotence    blindness

    3 Novoseek 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

    PubMed articles for CRYGD gene, integrated from 9 sources (see all 92):
    (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 'coral-like' cataract linked to chromosome 2q. (PubMed id 15041957)1, 4, 9 Mackay D.S....Shiels A. (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. (2000)
    3. The gamma-crystallins and human cataracts: a puzzle made clearer. (PubMed id 10521291)1, 2, 9 Heon E.... Munier F.L. (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. (2007)
    5. Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts. (PubMed id 12676897)1, 2, 9 Nandrot E.... Hilal L. (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. (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. (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. (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. (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. (2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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
    Entrez Gene: 1421 HGNC: 2411 AceView: CRYGD Ensembl:ENSG00000118231 euGenes: HUgn1421
    ECgene: CRYGD H-InvDB: CRYGD

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CRYGD Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CRYGD

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot 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 Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Phosphatase Activity Assays/Reagents   Browse Recombinant/Natural Proteins  
     Browse OriGene Antibodies   OriGene shRNA RFP for CRYGD  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CRYGD   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CRYGD  
     OriGene Protein Over-expression Lysate for CRYGD   Browse OriGene Fluorogenic Cell Assay Kits  
     OriGene siRNA for CRYGD   Browse 3'-UTR reporter clones for miRNA target validation  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CRYGD   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CRYGD  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     OriGene Purified Protein 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  
     OriGene Custom Immunoassay Development  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat CRYGD
     QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CRYGD
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CRYGD
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CRYGD
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CRYGD
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CRYGD
     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 Superior Antibodies 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

     Regulatory tfbs in CRYGD promoter
     Search Chromatin IP Primers for CRYGD
     RT2 qPCR Primer Assay in human, mouse, rat CRYGD
     Search GNC Networks for CRYGD
     SABiosciences Custom PCR Arrays for CRYGD
     Search Tocris compounds for CRYGD
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     CRYGD antibodies
     CRYGD proteins
     CRYGD lysates
     Search for Antibodies for CRYGD at Abcam
     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




     CRYGD Proteins, Antibodies, CLIAs, and ELISAs
     Search LifeMap BioReagents cell lines for CRYGD
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Search Advanced Cell Diagnostics for 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
           
    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

    View Random Gene

    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 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.
    hostname: 356977-web1.xennexinc.com index build: 100 solr: 1.4