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    MYOC myocilin [ Homo sapiens (human) ]

    Gene ID: 4653, updated on 27-Nov-2024

    Summary

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    Official Symbol
    MYOCprovided by HGNC
    Official Full Name
    myocilinprovided by HGNC
    Primary source
    HGNC:HGNC:7610
    See related
    Ensembl:ENSG00000034971 MIM:601652; AllianceGenome:HGNC:7610
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GPOA; JOAG; TIGR; GLC1A; JOAG1
    Summary
    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]
    Expression
    Biased expression in fat (RPKM 41.3), stomach (RPKM 12.2) and 8 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MYOC in Genome Data Viewer
    Location:
    1q24.3
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (171635417..171652688, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (170991882..171009153, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (171604557..171621828, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene proline rich coiled-coil 2C Neighboring gene U6 spliceosomal RNA Neighboring gene ReSE screen-validated silencer GRCh37_chr1:171489309-171489479 Neighboring gene myocilin opposite strand Neighboring gene MPRA-validated peak453 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:171613996-171614502 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:171614503-171615009 Neighboring gene profilin 1 pseudogene 1 Neighboring gene ribosomal protein L4 pseudogene 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Presymptomatic genetic diagnosis for consulters from a large Chinese family with juvenile open angle glaucoma. Chen Y, et al. Mol Vis, 2006 Apr 17. PMID 16636654
    2. [Investigation on the mutation of MYOC gene in two family pedigrees with primary open-angle glaucoma in Shanxi]. Qin L, et al. Yan Ke Xue Bao, 2007 Jun. PMID 17867509
    3. In vitro and in vivo study on the secretion of the Gly367Arg mutant myocilin protein. Kanagavalli J, et al. Mol Vis, 2007 Jul 13. PMID 17679945
    4. [Meta-analysis on the association of Myocilin Q368X mutation and primary open angle glaucoma]. Liu T, et al. Zhonghua Yan Ke Za Zhi, 2007 Apr. PMID 17605937
    5. Myocilin variants in Indian patients with open-angle glaucoma. Bhattacharjee A, et al. Arch Ophthalmol, 2007 Jun. PMID 17562996

    See all (280) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Variable phenotypic expression of MYOC mutations in a family with inherited pediatric glaucoma.
      Title: Variable phenotypic expression of MYOC mutations in a family with inherited pediatric glaucoma.
    2. Myocilin misfolding and glaucoma: A 20-year update.
      Title: Myocilin misfolding and glaucoma: A 20-year update.
    3. Human Pro370Leu Mutant Myocilin Induces the Phenotype of Open-Angle Glaucoma in Transgenic Mice.
      Title: Human Pro370Leu Mutant Myocilin Induces the Phenotype of Open-Angle Glaucoma in Transgenic Mice.
    4. COBL, MKX and MYOC Are Potential Regulators of Brown Adipose Tissue Development Associated with Obesity-Related Metabolic Dysfunction in Children.
      Title: COBL, MKX and MYOC Are Potential Regulators of Brown Adipose Tissue Development Associated with Obesity-Related Metabolic Dysfunction in Children.
    5. CYP1B1 and MYOC variants in neonatal-onset versus infantile-onset primary congenital glaucoma.
      Title: CYP1B1 and MYOC variants in neonatal-onset versus infantile-onset primary congenital glaucoma.
    6. Penetrance of MYOC gene mutation in primary open-angle glaucoma: A systematic review and meta-analysis.
      Title: Penetrance of MYOC gene mutation in primary open-angle glaucoma: A systematic review and meta-analysis.
    7. Association of the MYOC p.(Gln368Ter) Variant With Glaucoma in a Finnish Population.
      Title: Association of the MYOC p.(Gln368Ter) Variant With Glaucoma in a Finnish Population.
    8. Prevalence of MYOC risk variants for glaucoma in different populations.
      Title: Prevalence of MYOC risk variants for glaucoma in different populations.
    9. Age at Glaucoma Diagnosis in Germline Myocilin Mutation Patients: Associations with Polymorphisms in Protein Stabilities.
      Title: Age at Glaucoma Diagnosis in Germline Myocilin Mutation Patients: Associations with Polymorphisms in Protein Stabilities.
    10. Autophagy stimulation reduces ocular hypertension in a murine glaucoma model via autophagic degradation of mutant myocilin.
      Title: Autophagy stimulation reduces ocular hypertension in a murine glaucoma model via autophagic degradation of mutant myocilin.
    Submit: New GeneRIF Correction See all GeneRIFs (216)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Glaucoma 1, open angle, A
    MedGen: C1842028 OMIM: 137750 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables fibronectin binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables frizzled binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables myosin light chain binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables receptor tyrosine kinase binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in ERBB2-ERBB3 signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in bone development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in clustering of voltage-gated sodium channels ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in myelination in peripheral nervous system ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of Rho protein signal transduction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of cell-matrix adhesion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of stress fiber assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in neuron projection development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in non-canonical Wnt signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in osteoblast differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in osteoblast differentiation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of JNK cascade IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of cell migration IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of focal adhesion assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of mitochondrial depolarization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of stress fiber assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of substrate adhesion-dependent cell spreading IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of MAPK cascade IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in skeletal muscle hypertrophy ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cilium IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in collagen-containing extracellular matrix IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasmic vesicle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial intermembrane space IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial outer membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in node of Ranvier ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in rough endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    myocilin
    Names
    juvenile-onset open-angle glaucoma 1
    mutated trabecular meshwork-induced glucocorticoid response protein
    myocilin 55 kDa subunit
    myocilin protein
    myocilin trabecular meshwork inducible glucocorticoid response protein
    trabecular meshwork inducible glucocorticoid response protein

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008859.1 RefSeqGene

      Range
      4946..22217
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000261.2 → NP_000252.1  myocilin precursor

      See identical proteins and their annotated locations for NP_000252.1

      Status: REVIEWED

      Source sequence(s)
      AF001620, Z98750
      Consensus CDS
      CCDS1297.1
      UniProtKB/Swiss-Prot
      B2RD84, O00620, Q7Z6Q9, Q99972
      UniProtKB/TrEMBL
      A0A0S2Z421, B6V6K6
      Related
      ENSP00000037502.5, ENST00000037502.11
      Conserved Domains (2) summary
      cl02549
      Location:246 → 502
      OLF; Olfactomedin-like domain
      cl23720
      Location:98 → 221
      RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      171635417..171652688 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      170991882..171009153 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q99972.2 GenPept UniProtKB/Swiss-Prot:Q99972

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
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