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

CRYGC Gene

protein-coding   GIFtS: 52
GCID: GC02M208992

crystallin, gamma C


(Previous symbol: CRYG3)
 Explore 13 diseases affiliated with
CRYGC via our new
 Human Malady Compendium 
Biological research products
for CRYGC
    

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

Aliases
Crystallin, Gamma C1 2     Crystallin, Gamma-32
CRYG31 2 3 5     Gamma-C-Crystallin1
Gamma-Crystallin 2-12 3     Gamma-Crystallin C2
Gamma-Crystallin 32 3     Gamma-C-Crystallin1
CCL2 5     

External Ids:    HGNC: 24101   Entrez Gene: 14202   Ensembl: ENSG000001632547   OMIM: 1236805   UniProtKB: P073153   

Export aliases for CRYGC gene to outside databases

Previous GC identifers: GC02M207159 GC02M207717 GC02M208956 GC02M209195 GC02M208818 GC02M208701 GC02M200841


(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 CRYGC:
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: CRGC_HUMAN, P07315
Function: Crystallins are the dominant structural components of the vertebrate eye lens

Gene Wiki entry for CRYGC


(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 CRYGC gene promoter:
         Bach1   NF-1   Tal-1beta   Arnt   E47   C/EBPalpha   CHOP-10   PPAR-gamma1   PPAR-gamma2   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCRYGC promoter sequence
   Search SABiosciences Chromatin IP Primers for CRYGC

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CRYGC


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

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

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M208992:  view genomic region     (about GC identifiers)

Start:
208,992,861 bp from pter      End:
208,994,554 bp from pter
Size:
1,694 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: CRGC_HUMAN, P07315 (See protein sequence)
Recommended Name: Gamma-crystallin C  
Size: 174 amino acids; 20879 Da
Subunit: Monomer (By similarity)
Mass spectrometry: Mass=20747; Mass_error=0.2; Method=Electrospray; Range=2-174; Source=PubMed:12876325;
1 PDB 3D structure from and Proteopedia for CRYGC:
1LFE (3D)    
Secondary accessions: Q53R50

Explore the universe of human proteins at neXtProt for CRYGC: NX_P07315

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P07315

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

    REFSEQ proteins: NP_066269.1  
    ENSEMBL proteins: 
     ENSP00000282141  

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    ProSpec Recombinant Protein for CRYGC
    Browse Proteins at Uscn

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA16303126
    GO:0005737cytoplasm IDA16303126


    CRYGC for ontologies           About GeneDecksing



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    Browse ELISAs and CLIAs at Uscn


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

    CRYGC for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR001064 Beta/gamma_crystallin
     IPR011024 G_crystallin-rel

    Graphical View of Domain Structure for InterPro Entry P07315

    ProtoNet protein and cluster: P07315

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


    UniProtKB/Swiss-Prot: CRGC_HUMAN, P07315
    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: CRGC_HUMAN, P07315
    Function: Crystallins are the dominant structural components of the vertebrate eye lens

         Genatlas biochemistry entry for CRYGC:
    crystallin,gamma polypeptide C

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    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 IPI16303126


    CRYGC for ontologies           About GeneDecksing


    Animal Models:
         1 MGI mutant phenotype (inferred from 3 alleles(MGI details for Crygc):
     vision/eye 

    CRYGC 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 CRYGC

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    5 Interacting proteins for CRYGC (P073152, 3 ENSP000002821414) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CRYAAP024892, 3, ENSP000002915544MINT-14643 MINT-14642 MINT-14641 I2D: score=3 STRING: ENSP00000291554
    CRYBB2P433202, 3MINT-16208 MINT-16209 MINT-16207 I2D: score=3 
    CRYABP025112, 3, ENSP000002272514MINT-14213 MINT-14211 MINT-14212 I2D: score=3 STRING: ENSP00000227251
    HSPB1P047923, ENSP000002485534I2D: score=1 STRING: ENSP00000248553
    --ENSP000002158614STRING: ENSP00000215861
    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:0001654eye development ----
    GO:0002088lens development in camera-type eye ----
    GO:0007601visual perception IMP18618005
    GO:0043010camera-type eye development IEA--


    CRYGC 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

    CRYGC for compounds           About GeneDecksing

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

    Browse Tocris compounds for CRYGC
    1 Novoseek chemical compound relationship for CRYGC gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    sephadex 69.9 1 1303864 (1)

    Search CenterWatch for drugs/clinical trials and news about CRYGC / CRGC 

    (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 CRYGC gene: 
    NM_020989.3  

    Unigene Cluster for CRYGC:

    Crystallin, gamma C
    Hs.72910  [show with all ESTs]
    Unigene Representative Sequence: BG196322
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000282141(uc002vco.4)

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    Inhib. RNA
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    Clone
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CRYGC
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    Additional cDNA sequence: 

    BC074954.2 BC074955.2 U66582.1 

    1 DOTS entry:

    DT.97841338 

    21 AceView cDNA sequences:

    BM710707 BF726870 BM698252 BM697778 BM698601 BC074955 BM697528 BC074954 
    BM698816 BM697834 BM697801 BM710980 BM667195 AA457298 NM_020989 BM698500 
    U66582 BG206637 BM698028 AA457297 AI279701 

    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

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

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

    About this image
    See CRYGC Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CRYGC

    SOURCE GeneReport for Unigene cluster: Hs.72910
        SABiosciences Custom PCR Arrays for CRYGC
    Primer
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    In Situ
    Assay Products:
     

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

    (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 CRYGC gene from 1/7 species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    zebrafish
    (Danio rerio)
    Actinopterygii crygmxl16
    si:dkey-57a22.156
    (see all 42)
    si:dkey-57a22.15
    (see all 42)
    60(a)
    59(a)
    (see all 42)
    possible ortholog
    1 ↔ many
    (see all 42)
    9(23089517-23091003)
    9(23037287-23038178)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CRYGC gene
    CRYBB32  CRYBA42  CRYGB2  CRYBA12  CRYBB22  CRYGD2  CRYGA2  CRYBB12  
    CRYGN2  CRYBA22  CRYGS2  
    16 SIMAP similar genes for CRYGC using alignment to 1 protein entry:     CRGC_HUMAN:
    CRYGB    CRYGD    CRYGA    CRYGS    DKFZp434A0627    CRYGN
    CRYBB3    CRYBB2    AIM1L    CRYBA1    CRYBA4    DKFZp434L1713
    CRYBB1    CRYBA2    AIM1    CRYBG3

    CRYGC for paralogs           About GeneDecksing



    (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

    10/107 NCBI SNPs in CRYGC are shown (see all 107    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1048936181,2
    Cpathogenic200842859(-) AGATCA/CCCTTC 2 T P mis10--------
    rs289316041,2
    C,pathogenic208992950(-) CTTTGC/TGGAGA 3 R W int1 mis1 ese31Minor allele frequency- T:0.00NA 2
    rs22420721,2
    C,F,H--200842854(-) ACCTTC/ATATGA 2 /L /F mis15Minor allele frequency- A:0.01NS EA NA 592
    rs26014861,2
    H,--200844301(-) atggaA/C/Gtgtct 1 -- us2k14NS EA 420
    rs26014851,2
    H--200844512(-) GAAGTC/AAGCCT 1 -- us2k14Minor allele frequency- A:0.00NS EA 418
    rs26014841,2
    H--200844513(-) TGAAGT/CCAGCC 1 -- us2k13Minor allele frequency- C:0.00NS EA 252
    rs773619001,2
    F,--200844702(+) TTACCA/GTCTTG 1 -- us2k11Minor allele frequency- G:0.09WA 118
    rs1124224931,2
    --200844895(+) TTCTGC/TCTCAG 1 -- us2k11Minor allele frequency- T:0.50CSA 2
    rs26014831,2
    H--200844927(-) acccgC/Ggccta 1 -- us2k1 tfbs34Minor allele frequency- G:0.00NS EA 420
    rs67324961,2
    C,F,A,H,--208992374(+) AGGAGT/CCATTT 2 -- ds5001 int126Minor allele frequency- C:0.44NS EA NA WA CSA 2493

    HapMap Linkage Disequilibrium report for CRYGC (208992861 - 208994554 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for CRYGC: --
    Human Gene Mutation Database (HGMD): CRYGC

    Locus Specific Mutation Databases (LSDB): CRYGC

    SABiosciences Cancer Mutation PCR Assays
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    (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

    CRYGC for disorders           About GeneDecksing

    OMIM gene information: 123680   
    OMIM disorders: 604307  
    UniProtKB/Swiss-Prot: CRGC_HUMAN, P07315
  • Defects in CRYGC 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 CRYGC are a cause of cataract Coppock-like (CCL) [MIM:604307]. A congenital pulverulent disk-like
  • opacity involving the embryonic nucleus with many tiny white dots in the lamellar portion of the lens. It is usually
    bilateral and dominantly inherited

    13 diseases for CRYGC:    About MalaCards
    cataract, variable zonular pulverulent    cataract, coppock-like    cataract    cataracts, autosomal dominant
    scarlet fever    otitis media    impetigo    congenital cataracts
    bronchitis    adhd    tonsillitis    blindness
    pneumonia

    6 diseases from the University of Copenhagen DISEASES database for CRYGC:
    Scarlet fever     Tonsillitis     Impetigo     Pharyngitis
    Otitis media     Cancer

    1 Novoseek disease relationship for CRYGC gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cataract 63.6 2 20450675 (1), 16303126 (1)

    Genetic Association Database (GAD): CRYGC

    Export disorders for CRYGC 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 CRYGC gene, integrated from 9 sources (see all 51):
    (articles sorted by number of sources associating them with CRYGC)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A 5-base insertion in the gammaC-crystallin gene is associated with autosomal dominant variable zonular pulverulent cataract. (PubMed id 10914683)1, 2, 4 Ren Z.... Hejtmancik J.F. (2000)
    2. A novel mutation impairing the tertiary structure and stability of gammaC-crystallin (CRYGC) leads to cataract formation in humans and zebrafish lens. (PubMed id 22052681)1, 2 Li X.Q.... Ma X. (2012)
    3. Mutation screening and genotype phenotype correlation of I+-crystallin, I^-crystallin and GJA8 gene in congenital cataract. (PubMed id 21423869)1, 2 Kumar M....Dada R. (2011)
    4. 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)
    5. Alteration of protein-protein interactions of congenital cataract crystallin mutants. (PubMed id 12601044)1, 2 Fu L. and Liang J.J.-N. (2003)
    6. Methylation and carbamylation of human gamma-crystallins. (PubMed id 12876325)1, 2 Lapko V.N.... Smith J.B. (2003)
    7. Homology models of human gamma-crystallins: structural study of the extensive charge network in gamma-crystallins. (PubMed id 12507494)1, 2 Salim A. and Zaidi Z.H. (2003)
    8. Novel mutations in the gamma-crystallin genes cause autosomal dominant congenital cataracts. (PubMed id 12011157)1, 2 Santhiya S.T.... Graw J. (2002)
    9. The gamma-crystallins and human cataracts: a puzzle made clearer. (PubMed id 10521291)1, 2 Heon E.... Munier F.L. (1999)
    10. Sequence analysis of betaA3, betaB3, and betaA4 crystallins completes the identification of the major proteins in young human lens. (PubMed id 8999933)1, 2 Lampi K.J....David L.L. (1997)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1420 HGNC: 2410 AceView: CRYGC Ensembl:ENSG00000163254 euGenes: HUgn1420
    ECgene: CRYGC H-InvDB: CRYGC

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
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    About This Section
    NameDescription
    PharmGKB entry for CRYGC Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CRYGC gene:
    Search GeneIP for patents involving CRYGC

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