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MYOC Gene

protein-coding   GIFtS: 60
GCID: GC01M171604

Myocilin, Trabecular Meshwork Inducible Glucocorticoid Response


(Previous symbol: GLC1A)
  See MYOC-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)
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Aliases
Myocilin, Trabecular Meshwork Inducible Glucocorticoid Response1 2     JOAG12
GLC1A1 2 3 5     Mutated Trabecular Meshwork-Induced Glucocorticoid Response Protein2
TIGR2 3 5     myocilin2
GPOA2 5     Trabecular Meshwork-Induced Glucocorticoid Response Protein3
JOAG2 5     

External Ids:    HGNC: 76101   Entrez Gene: 46532   Ensembl: ENSG000000349717   OMIM: 6016525   UniProtKB: Q999723   

Export aliases for MYOC gene to outside databases

Previous GC identifers: GC01M169168 GC01M167233 GC01M168185 GC01M168843 GC01M168336 GC01M169871 GC01M142827


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for MYOC Gene:
MYOC encodes the protein myocilin, which is believed to have a role in cytoskeletal function. MYOC is expressed in
many occular tissues, including the trabecular meshwork, and was revealed to be the trabecular meshwork
glucocorticoid-inducible response protein (TIGR). The trabecular meshwork is a specialized eye tissue essential
in regulating intraocular pressure, and mutations in MYOC have been identified as the cause of hereditary
juvenile-onset open-angle glaucoma. (provided by RefSeq, Jul 2008)

GeneCards Summary for MYOC Gene:
MYOC (myocilin, trabecular meshwork inducible glucocorticoid response) is a protein-coding gene. Diseases associated with MYOC include glaucoma 1a, primary open angle, and early-onset glaucoma. GO annotations related to this gene include structural molecule activity. An important paralog of this gene is GLDN.

UniProtKB/Swiss-Prot: MYOC_HUMAN, Q99972
Function: May participate in the obstruction of fluid outflow in the trabecular meshwork

Gene Wiki entry for MYOC 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)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NC_018912.2  NT_004487.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the MYOC gene promoter:
         AhR   AML1a   NRSF form 1   POU3F2   NRSF form 2   Max   FOXC1   FOXO4   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMYOC promoter sequence
   Search Chromatin IP Primers for MYOC

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


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

Entrez Gene cytogenetic band: 1q23-q24   Ensembl cytogenetic band:  1q24.3   HGNC cytogenetic band: 1q23-q24

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

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M171604:  view genomic region     (about GC identifiers)

Start:
171,604,557 bp from pter      End:
171,621,823 bp from pter
Size:
17,267 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: MYOC_HUMAN, Q99972 (See protein sequence)
Recommended Name: Myocilin precursor  
Size: 504 amino acids; 56972 Da
Subunit: Homodimer. Interacts with OLFM3
Sequence caution: Sequence=BAA24532.1; Type=Erroneous initiation;
Secondary accessions: B2RD84 O00620 Q7Z6Q9

Explore the universe of human proteins at neXtProt for MYOC: NX_Q99972

Explore proteomics data for MYOC at MOPED

Post-translational modifications: 

  • Different isoforms may arise by post-translational modifications1
  • Glycosylated1
  • Palmitoylated (By similarity)1
  • Glycosylation2 at Asn57
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins: NP_000252.1  
    ENSEMBL proteins: 
     ENSP00000037502  

    MYOC Human Recombinant Protein Products:

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    Novus Biologicals MYOC Proteins
    Novus Biologicals MYOC Lysates
    Sino Biological Recombinant Protein for MYOC
    Sino Biological Cell Lysate for MYOC
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MYOC

     
    Search eBioscience for Proteins for MYOC 

     
    antibodies-online proteins for MYOC (17 products) 

     
    antibodies-online peptides for MYOC

    MYOC Antibody Products:

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    antibodies-online antibodies for MYOC (40 products) 

    MYOC Assay Products:

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    Cloud-Clone Corp. ELISAs for MYOC
    Cloud-Clone Corp. CLIAs for MYOC
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    antibodies-online kits for MYOC (15 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR003112 Olfac-like

    Graphical View of Domain Structure for InterPro Entry Q99972

    ProtoNet protein and cluster: Q99972

    1 Blocks protein domain: IPB003112 Olfactomedin-like

    UniProtKB/Swiss-Prot: MYOC_HUMAN, Q99972
    Similarity: Contains 1 olfactomedin-like domain


    Find genes that share domains with MYOC           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MYOC_HUMAN, Q99972
    Function: May participate in the obstruction of fluid outflow in the trabecular meshwork

         Genatlas biochemistry entry for MYOC:
    myocilin,cytoskeleton protein with multiple post-translational forms,cellular (55kDa) and secreted
    55/66kDa,expressed in ciliated cells of cochlea and involved in the morphogenesis of ciliary body,a major
    organizing center of the ciliated epithelium, also expressed in iris,sclera,neural retina,heart,skeletal
    muscle,olfactory neuroepithelium (homolog of frog neuronal olfactomedin related protein)

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001968fibronectin binding IPI11773026
    GO:0005109frizzled binding IPI19188438
    GO:0005198structural molecule activity ----
    GO:0005515protein binding IPI12019210
    GO:0032027myosin light chain binding IPI11773029
         
    Find genes that share ontologies with MYOC           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for MYOC:
     Increased circadian period len 

         2 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Myoc):
     no phenotypic analysis  vision/eye 

    Find genes that share phenotypes with MYOC           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for MYOC

    miRNA
    Products:
        
    miRTarBase miRNAs that target MYOC:
    hsa-mir-204-5p (MIRT005837)

    Block miRNA regulation of human, mouse, rat MYOC using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate MYOC:
    hsa-miR-205*
    SwitchGear 3'UTR luciferase reporter plasmidMYOC 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for MYOC
    Predesigned siRNA for gene silencing in human, mouse, rat MYOC

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

    Clone
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    OriGene clones in human, mouse for MYOC (see all 6)
    OriGene ORF clones in mouse, rat for MYOC
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MYOC (NM_000261)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MYOC
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MYOC
    Addgene plasmids for MYOC 

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

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYOC


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MYOC_HUMAN, Q99972: Rough endoplasmic reticulum. Secreted. Cell projection, cilium. Note=Located preferentially
    in the ciliary rootlet and basal body of the connecting cilium of photoreceptor cells, and in the rough
    endoplasmic reticulum. Also secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    extracellular5
    cytoskeleton2
    cytosol1
    golgi apparatus1
    lysosome1
    mitochondrion1
    nucleus1

    Gene Ontology (GO): Selected cellular component terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IDA17317787
    GO:0005741mitochondrial outer membrane IDA17516541
    GO:0005743mitochondrial inner membrane IDA17516541
    GO:0005758mitochondrial intermembrane space IDA17516541
    GO:0005783endoplasmic reticulum ISS--

    Find genes that share ontologies with MYOC           About GenesLikeMe


    (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).
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    SuperPaths for MYOC About    
    See pathways by source

    SuperPathContained pathways About
    1Non-Canonical Wnt Pathway
    Non-Canonical Wnt Pathway0.53
    Canonical Wnt Pathway0.53


    2 Sino Biological Pathways for MYOC
        Canonical Wnt Pathway
    Non-Canonical Wnt Pathway


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

        GeneGlobe Interaction Network for MYOC

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for MYOC (Q999723 ENSP000000375024) via UniProtKB, MINT, STRING, and/or I2D (see all 44)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CLIC1O002993, ENSP000003649344I2D: score=1 STRING: ENSP00000364934
    ENSG00000206394O002993I2D: score=1 
    ENSG00000223639O002993I2D: score=1 
    ENSG00000226248O002993I2D: score=1 
    ENSG00000226417O002993I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 20):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001649osteoblast differentiation IDA--
    GO:0001953negative regulation of cell-matrix adhesion IDA17984096
    GO:0009653anatomical structure morphogenesis ----
    GO:0014068positive regulation of phosphatidylinositol 3-kinase signaling IDA--
    GO:0014734skeletal muscle hypertrophy ISS--

    Find genes that share ontologies with MYOC           About GenesLikeMe



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

    Browse Tocris compounds for MYOC

    Selected Novoseek inferred chemical compound relationships for MYOC gene (see all 16)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dexamethasone 57.1 53 19696178 (3), 18195223 (3), 19064852 (2), 10550794 (2) (see all 24)
    leucine 47 9 9176893 (1), 11773029 (1), 16289048 (1), 12219254 (1) (see all 8)
    polyacrylamide 13.3 1 11431441 (1)
    steroid 12.2 19 11133859 (6), 15456875 (3), 20447966 (1), 11431441 (1)
    asparagine 11.2 2 9556305 (1), 9754180 (1)
    hyaluronic acid 7.2 2 14578398 (1), 9497363 (1)
    glycosaminoglycan 0 1 9497363 (1)
    nickel 0 2 16384965 (1), 11095610 (1)
    sucrose 0 2 15944158 (1), 17094967 (1)
    lipid 0 3 17149370 (1), 16198165 (1)



    Find genes that share compounds with MYOC           About GenesLikeMe



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for MYOC gene: 
    NM_000261.1  

    Unigene Cluster for MYOC:

    Myocilin, trabecular meshwork inducible glucocorticoid response
    Hs.436037  [show with all ESTs]
    Unigene Representative Sequence: BC029261
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000037502(uc001ghu.3 uc010pmk.2)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat MYOC using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate MYOC:
    hsa-miR-205*
    SwitchGear 3'UTR luciferase reporter plasmidMYOC 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for MYOC
    Predesigned siRNA for gene silencing in human, mouse, rat MYOC
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    Addgene plasmids for MYOC 
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for MYOC
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MYOC
      QuantiTect SYBR Green Assays in human, mouse, rat MYOC
      QuantiFast Probe-based Assays in human, mouse, rat MYOC

    Additional mRNA sequence: 

    AF001620.1 AK097310.1 AK300924.1 AK300943.1 AK301297.1 AK315443.1 BC029261.1 D88214.1 
    FJ227302.1 FJ237046.1 FJ237047.1 U85257.1 

    3 DOTS entries:

    DT.111574  DT.121415600  DT.95158302 

    Selected AceView cDNA sequences (see all 95):

    BC029261 BP342027 AI971049 BM707284 BF063281 CA395551 CD677391 BM689172 
    CD679237 BF725009 CA391298 CD677693 CD676838 BU727147 BF726094 U85257 
    CD676728 CD678378 AF001620 CD679214 BF725215 CD678409 AK097310 CD677407 

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


    MYOC expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Eye (Sensory Organs)
             Mature Endothelial Cells Corneal Endothelium
     
     Endothelium (Cardiovascular System)
             Mature Endothelial Cells Corneal Endothelium
     
     Adipose (Muscoskeletal System)
    MYOC Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MYOC Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.436037

    UniProtKB/Swiss-Prot: MYOC_HUMAN, Q99972
    Tissue specificity: Expressed in large amounts in various types of muscle, ciliary body, papillary sphincter,
    skeletal muscle, heart and other tissues. Expressed predominantly in the retina. In normal eyes, found in the
    inner uveal meshwork region and the anterior portion of the meshwork. In contrast, in many glaucomatous eyes, it
    is found in more regions of the meshwork and appeared more intensively than in normal eyes, regardless of the
    type or clinical severity of glaucoma

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYOC

    (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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for MYOC gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Myoc1 , 5 myocilin1, 5 82.79(n)1
    81.84(a)1
      1 (70.29 cM)5
    179261  NM_010865.31  NP_034995.31 
     1626391505 
    chicken
    (Gallus gallus)
    Aves MYOC1 myocilin, trabecular meshwork inducible glucocorticoid more 61(n)
    56.01(a)
      424391  XM_422235.4  XP_422235.4 
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.230152 Xenopus laevis transcribed sequence with weak similarity more 75.83(n)    BJ031036.1 
    zebrafish
    (Danio rerio)
    Actinopterygii myoc1 myocilin 57.39(n)
    51.89(a)
      548602  NM_001015062.2  NP_001015062.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MYOC gene
    GLDN2  OLFM32  OLFML32  OLFML2A2  OLFM12  OLFM42  OLFM22  OLFML2B2  
    OLFML12  
    10 SIMAP similar genes for MYOC using alignment to 5 protein entries:     MYOC_HUMAN (see all proteins):
    OLFM1    LPHN2    LPHN3    OLFM2    OLFML2B    OLFM3
    FLJ00237    LPHN1    DKFZp686H1812    OLFML1

    Find genes that share paralogs with MYOC           About GenesLikeMe



    (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)
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    Selected SNPs for MYOC (see all 630)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1409677671,2,,4
    C,FGlaucoma 1, open angle, A (GLC1A)4 --178157881(+) CATCTG/ACTGAG 2 /A /V mis12Minor allele frequency- A:0.00NA EU 5875
    rs289366941,2,,4
    CGlaucoma 1, open angle, A (GLC1A)4 pathogenic1178158019(-) CAAAGG/TTGCCA 2 G V mis1 ese30--------
    rs1997468241,2,,4
    Glaucoma 1, open angle, A (GLC1A)4 --178173908(+) TTAGTC/TGCTTC 2 Q R mis10--------
    rs2001201151,2,,4
    CGlaucoma 1, open angle, A (GLC1A)4 --178174005(+) CTCCCA/GCCTCA 2 R W mis10--------
    rs2002089251,2,,4
    Glaucoma 1, open angle, A (GLC1A)4 --178174223(+) TGGCCA/GCACTG 2 A V mis10--------
    VAR_0543044
    Glaucoma 1, open angle, A (GLC1A)4--see VAR_0543042 T I mis40--------
    VAR_0054774
    Glaucoma 1, open angle, A (GLC1A)4--see VAR_0054772 I F mis40--------
    VAR_0096814
    Glaucoma 1, open angle, A (GLC1A)4--see VAR_0096812 T M mis40--------
    VAR_0096764
    Glaucoma 1, open angle, A (GLC1A)4--see VAR_0096762 T K mis40--------
    VAR_0542944
    Glaucoma 1, open angle, A (GLC1A)4--see VAR_0542942 A T mis40--------

    HapMap Linkage Disequilibrium report for MYOC (171604557 - 171621823 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for MYOC:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv528322CNV Loss19592680
    nsv872544CNV Gain21882294
    esv28731CNV Gain+Loss19812545

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

    Site Specific Mutation Identification with 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.)
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    OMIM gene information: 601652   
    OMIM disorders: 137750  
    UniProtKB/Swiss-Prot: MYOC_HUMAN, Q99972
  • Glaucoma 1, open angle, A (GLC1A) [MIM:137750]: A form of primary open angle glaucoma (POAG). POAG is
    characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of
    the eye is open, and usually the intraocular pressure is increased. However, glaucoma can occur at any
    intraocular pressure. The disease is generally asymptomatic until the late stages, by which time significant and
    irreversible optic nerve damage has already taken place. Note=The disease is caused by mutations affecting the
    gene represented in this entry
  • Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]: An autosomal recessive form of primary congenital
    glaucoma (PCG). PCG is characterized by marked increase of intraocular pressure at birth or early childhood,
    large ocular globes (buphthalmos) and corneal edema. It results from developmental defects of the trabecular
    meshwork and anterior chamber angle of the eye that prevent adequate drainage of aqueous humor. Note=The disease
    is caused by mutations affecting distinct genetic loci, including the gene represented in this entry. MYOC
    mutations may contribute to GLC3A via digenic inheritance with CYP1B1 and/or another locus associated with the
    disease (PubMed:15733270)

  • 14 diseases for MYOC:    
    About MalaCards
    glaucoma 1a, primary open angle    early-onset glaucoma    primary angle-closure glaucoma    steroid-induced glaucoma
    ocular hypertension    juvenile glaucoma    open-angle glaucoma    primary open angle glaucoma juvenile onset 1
    glaucoma 3a, primary open angle, congenital, juvenile, or adult onset    glaucoma, congenital    primary open angle glaucoma    glaucoma 3, primary congenital, d
    primary congenital glaucoma    glaucoma

    2 diseases from the University of Copenhagen DISEASES database for MYOC:
    Glaucoma     Blindness

    Find genes that share disorders with MYOC           About GenesLikeMe

    Selected Novoseek inferred disease relationships for MYOC gene (see all 24)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glc1a 97.9 99 8684791 (9), 9548973 (6), 10209734 (5), 12851728 (5) (see all 32)
    primary open angle glaucoma 94.2 82 10878948 (3), 15547491 (2), 9446806 (2), 10340788 (2) (see all 47)
    glaucoma open-angle 94 162 8684791 (5), 12504739 (3), 19662433 (3), 9535666 (3) (see all 89)
    glaucoma 91.8 329 15456875 (7), 8684791 (5), 12697062 (5), 17197538 (5) (see all 99)
    glaucoma, primary open angle, adult-onset 86.3 1 15069026 (1)
    aqueous humor 82.5 61 16384965 (6), 11527946 (4), 15235575 (4), 11152659 (3) (see all 26)
    ocular hypertension 81.5 24 11133859 (3), 16973161 (2), 11431441 (2), 11815346 (2) (see all 12)
    glaucoma, congenital 81 15 18852424 (3), 19148291 (1), 20198978 (1), 17224759 (1) (see all 10)
    corticosteroid-induced glaucoma 79.2 1 15194423 (1)
    glaucoma suspect 69 4 12215093 (1), 10919117 (1)

    Genetic Association Database (GAD): MYOC
    Human Genome Epidemiology (HuGE) Navigator: MYOC (58 documents)

    Export disorders for MYOC 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)
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    PubMed articles for MYOC gene, integrated from 10 sources (see all 362):
    (articles sorted by number of sources associating them with MYOC)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene. (PubMed id 11774072)1, 2, 4, 9 Vincent A.L.... Heon E. (Am. J. Hum. Genet. 2002)
    2. Myocilin gene implicated in primary congenital glaucoma. (PubMed id 15733270)1, 2, 4, 9 Kaur K.... Chakrabarti S. (Clin. Genet. 2005)
    3. Prevalence of myocilin mutations in adults with primary open-angle glaucoma in Ghana, West Africa. (PubMed id 12362081)1, 2, 4, 9 Challa P.... Allingham R.R. (J. Glaucoma 2002)
    4. Novel MYOC gene mutation, Phe369Leu, in Japanese patients with primary open-angle glaucoma detected by denaturing high-performance liquid chromatography. (PubMed id 15534471)1, 2, 4, 9 Ishikawa K.... Mashima Y. (J. Glaucoma 2004)
    5. A novel myosin-like protein (myocilin) expressed in the connecting cilium of the photoreceptor: molecular cloning, tissue expression, and chromosomal mapping. (PubMed id 9169133)1, 2, 3, 9 Kubota R.... Shimizu N. (Genomics 1997)
    6. Myocilin analysis by DHPLC in French POAG patients: increased prevalence of Q368X mutation. (PubMed id 12872267)1, 2, 4 Melki R.... Garchon H.-J. (Hum. Mutat. 2003)
    7. TIGR/MYOC gene sequence alterations in individuals with and without primary open-angle glaucoma. (PubMed id 12356829)1, 2, 4 Pang C.P.... Lam D.S.C. (Invest. Ophthalmol. Vis. Sci. 2002)
    8. Identification of a gene that causes primary open angle glaucoma. (PubMed id 9005853)1, 2, 3 Stone E.M.... Sheffield V.C. (Science 1997)
    9. Characterization of rabbit myocilin: implications for human myocilin glycosylation and signal peptide usage. (PubMed id 12697062)1, 2, 9 Shepard A.R.... Clark A.F. (BMC Genet. 2003)
    10. Identification of mutations in the myocilin (MYOC) gene in Taiwanese patients with juvenile-onset open-angle glaucoma. (PubMed id 17893664)1, 4, 9 Yen Y.C....Li S.Y. (Mol. Vis. 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 4653 HGNC: 7610 AceView: MYOC Ensembl:ENSG00000034971 euGenes: HUgn4653
    ECgene: MYOC H-InvDB: MYOC

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for MYOC Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=MYOC[genesymbol]

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

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



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