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Aliases for MYOC Gene

Aliases for MYOC Gene

  • Myocilin 2 3 3 5
  • Trabecular Meshwork Inducible Glucocorticoid Response Protein 2 3
  • Juvenile-Onset Open-Angle Glaucoma 1 2 3
  • Myocilin 55 KDa Subunit 3 4
  • GLC1A 3 4
  • TIGR 3 4
  • Myocilin Trabecular Meshwork Inducible Glucocorticoid Response Protein 3
  • Mutated Trabecular Meshwork-Induced Glucocorticoid Response Protein 3
  • Myocilin, Trabecular Meshwork Inducible Glucocorticoid Response 2
  • Trabecular Meshwork-Induced Glucocorticoid Response Protein 4
  • JOAG1 3
  • GPOA 3
  • JOAG 3

External Ids for MYOC Gene

Previous HGNC Symbols for MYOC Gene

  • GLC1A

Previous GeneCards Identifiers for MYOC Gene

  • GC01M169168
  • GC01M167233
  • GC01M168185
  • GC01M168843
  • GC01M168336
  • GC01M169871
  • GC01M142827

Summaries for MYOC Gene

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) is a Protein Coding gene. Diseases associated with MYOC include Glaucoma 1A, Primary Open Angle and Glaucoma 3A, Primary Open Angle, Congenital, Juvenile, Or Adult Onset. GO annotations related to this gene include frizzled binding and fibronectin binding. An important paralog of this gene is OLFM1.

UniProtKB/Swiss-Prot for MYOC Gene

  • Secreted glycoprotein regulating the activation of different signaling pathways in adjacent cells to control different processes including cell adhesion, cell-matrix adhesion, cytoskeleton organization and cell migration. Promotes substrate adhesion, spreading and formation of focal contacts. Negatively regulates cell-matrix adhesion and stress fiber assembly through Rho protein signal transduction. Modulates the organization of actin cytoskeleton by stimulating the formation of stress fibers through interactions with components of Wnt signaling pathways. Promotes cell migration through activation of PTK2 and the downstream phosphatidylinositol 3-kinase signaling. Plays a role in bone formation and promotes osteoblast differentiation in a dose-dependent manner through mitogen-activated protein kinase signaling. Mediates myelination in the peripheral nervous system through ERBB2/ERBB3 signaling. Plays a role as a regulator of muscle hypertrophy through the components of dystrophin-associated protein complex. Involved in positive regulation of mitochondrial depolarization. Plays a role in neurite outgrowth. May participate in the obstruction of fluid outflow in the trabecular meshwork.

Gene Wiki entry for MYOC Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MYOC Gene

Genomics for MYOC Gene

Regulatory Elements for MYOC Gene

Enhancers for MYOC Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G171753 1.3 Ensembl ENCODE dbSUPER 15.2 -102.0 -101990 2.0 BCOR PKNOX1 ZNF146 CBX3 NFIB ZBTB40 FOXK2 NCOR1 CBX5 ZSCAN29 METTL13 MYOC VAMP4 LOC100422549 LOC100422548
GH01G171738 1.8 FANTOM5 ENCODE dbSUPER 9.6 -88.7 -88747 6.2 HDGF PKNOX1 CREB3L1 ZFP64 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B METTL13 FMO4 SUCO DNM3 MYOC VAMP4 PRRC2C PIR43253
GH01G171744 1 FANTOM5 Ensembl dbSUPER 14.7 -92.4 -92441 0.6 ZBTB33 MYOC METTL13 VAMP4 FMO4 PRRC2C LOC100422548
GH01G171652 1.4 Ensembl ENCODE dbSUPER 9.9 -2.4 -2354 5.6 PKNOX1 FOXA2 RB1 ARNT ZNF2 RAD21 RARA YY1 TCF12 EGR1 MYOC VAMP4 PFN1P1
GH01G171644 1.5 Ensembl ENCODE dbSUPER 6.7 +7.0 6982 1.8 HDGF PKNOX1 ATF1 CREB3L1 ARID4B ZNF2 ZNF48 YY1 TCF12 GTF3C2 PIGC PRRC2C MYOC VAMP4 GC01P171602
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MYOC on UCSC Golden Path with GeneCards custom track

Genomic Location for MYOC Gene

Chromosome:
1
Start:
171,635,417 bp from pter
End:
171,652,683 bp from pter
Size:
17,267 bases
Orientation:
Minus strand

Genomic View for MYOC Gene

Genes around MYOC on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MYOC Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MYOC Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MYOC Gene

Proteins for MYOC Gene

  • Protein details for MYOC Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99972-MYOC_HUMAN
    Recommended name:
    Myocilin
    Protein Accession:
    Q99972
    Secondary Accessions:
    • B2RD84
    • O00620
    • Q7Z6Q9

    Protein attributes for MYOC Gene

    Size:
    504 amino acids
    Molecular mass:
    56972 Da
    Quaternary structure:
    • Homodimer (via N-terminus). Can also form higher oligomers (PubMed:9497363). Interacts with OLFM3, FN1, NRCAM, GLDN and NFASC (PubMed:12019210, PubMed:11773026, PubMed:23897819). Interacts (via N-terminus) with MYL2 (PubMed:11773029). Interacts with SFRP1, FRZB, FZD7, FZD10, FZD1 and WIF1; regulates Wnt signaling (PubMed:19188438). Interacts with SNTA1; regulates muscle hypertrophy. Interacts with ERBB2 and ERBB3; acivates ERBB2-ERBB3 signaling pathway. Interacts with SNCG; affects its secretion and its aggregation (By similarity).
    SequenceCaution:
    • Sequence=BAA24532.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MYOC Gene

neXtProt entry for MYOC Gene

Post-translational modifications for MYOC Gene

  • Different isoforms may arise by post-translational modifications.
  • Glycosylated.
  • Palmitoylated.
  • Undergoes a calcium-dependent proteolytic cleavage at Arg-226 by CAPN2 in the endoplasmic reticulum. The result is the production of two fragments, one of 35 kDa containing the C-terminal olfactomedin-like domain, and another of 20 kDa containing the N-terminal leucine zipper-like domain.
  • Glycosylation at Asn57
  • Modification sites at PhosphoSitePlus

Other Protein References for MYOC Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for MYOC Gene

Domains & Families for MYOC Gene

Protein Domains for MYOC Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with MYOC: view

No data available for Gene Families and UniProtKB/Swiss-Prot for MYOC Gene

Function for MYOC Gene

Molecular function for MYOC Gene

GENATLAS Biochemistry:
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)
UniProtKB/Swiss-Prot Function:
Secreted glycoprotein regulating the activation of different signaling pathways in adjacent cells to control different processes including cell adhesion, cell-matrix adhesion, cytoskeleton organization and cell migration. Promotes substrate adhesion, spreading and formation of focal contacts. Negatively regulates cell-matrix adhesion and stress fiber assembly through Rho protein signal transduction. Modulates the organization of actin cytoskeleton by stimulating the formation of stress fibers through interactions with components of Wnt signaling pathways. Promotes cell migration through activation of PTK2 and the downstream phosphatidylinositol 3-kinase signaling. Plays a role in bone formation and promotes osteoblast differentiation in a dose-dependent manner through mitogen-activated protein kinase signaling. Mediates myelination in the peripheral nervous system through ERBB2/ERBB3 signaling. Plays a role as a regulator of muscle hypertrophy through the components of dystrophin-associated protein complex. Involved in positive regulation of mitochondrial depolarization. Plays a role in neurite outgrowth. May participate in the obstruction of fluid outflow in the trabecular meshwork.
UniProtKB/Swiss-Prot Induction:
Up-regulated by dexamethasone, a glucocorticoid.

Gene Ontology (GO) - Molecular Function for MYOC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001968 fibronectin binding IPI 11773026
GO:0005109 frizzled binding IPI 19188438
GO:0005515 protein binding IPI 11773029
GO:0030971 receptor tyrosine kinase binding IEA --
GO:0032027 myosin light chain binding IPI 11773029
genes like me logo Genes that share ontologies with MYOC: view
genes like me logo Genes that share phenotypes with MYOC: view

Human Phenotype Ontology for MYOC Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MYOC Gene

MGI Knock Outs for MYOC:

Animal Model Products

miRNA for MYOC Gene

miRTarBase miRNAs that target MYOC

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for MYOC

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for MYOC Gene

Localization for MYOC Gene

Subcellular locations from UniProtKB/Swiss-Prot for MYOC Gene

Secreted. Golgi apparatus. Cytoplasmic vesicle. Secreted, extracellular space. Secreted, extracellular space, extracellular matrix. Secreted, exosome. Mitochondrion. Mitochondrion intermembrane space. Mitochondrion inner membrane. Mitochondrion outer membrane. Rough endoplasmic reticulum. Cell projection. 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 (PubMed:9169133). It is only imported to mitochondria in the trabecular meshwork (PubMed:17516541). Localizes to the Golgi apparatus in Schlemms canal endothelial cells (PubMed:11053284). Appears in the extracellular space of trabecular meshwork cells by an unconventional mechanism, likely associated with exosome-like vesicles (PubMed:15944158). Localizes in trabecular meshwork extracellular matrix (PubMed:15944158). {ECO:0000269 PubMed:11053284, ECO:0000269 PubMed:15944158, ECO:0000269 PubMed:17516541, ECO:0000269 PubMed:9169133}.
Myocilin, C-terminal fragment: Secreted.
Myocilin, N-terminal fragment: Endoplasmic reticulum. Note=Remains retained in the endoplasmic reticulum.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MYOC gene
Compartment Confidence
extracellular 5
mitochondrion 5
endoplasmic reticulum 5
golgi apparatus 5
cytoskeleton 2
nucleus 1
lysosome 1

Gene Ontology (GO) - Cellular Components for MYOC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0005615 extracellular space IDA 17317787
GO:0005739 mitochondrion IEA --
GO:0005741 mitochondrial outer membrane IEA,IDA 17516541
genes like me logo Genes that share ontologies with MYOC: view

Pathways & Interactions for MYOC Gene

No Data Available

Gene Ontology (GO) - Biological Process for MYOC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001649 osteoblast differentiation IDA 23629661
GO:0001952 regulation of cell-matrix adhesion IEA --
GO:0001953 negative regulation of cell-matrix adhesion IDA 17984096
GO:0014068 positive regulation of phosphatidylinositol 3-kinase signaling IDA 21656515
GO:0014734 skeletal muscle hypertrophy ISS --
genes like me logo Genes that share ontologies with MYOC: view

No data available for Pathways by source and SIGNOR curated interactions for MYOC Gene

Drugs & Compounds for MYOC Gene

(9) Drugs for MYOC Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(7) Additional Compounds for MYOC Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MYOC: view

Transcripts for MYOC Gene

mRNA/cDNA for MYOC Gene

Unigene Clusters for MYOC Gene

Myocilin, trabecular meshwork inducible glucocorticoid response:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for MYOC

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MYOC Gene

No ASD Table

Relevant External Links for MYOC Gene

GeneLoc Exon Structure for
MYOC
ECgene alternative splicing isoforms for
MYOC

Expression for MYOC Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MYOC Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MYOC Gene

This gene is overexpressed in Esophagus - Gastroesophageal Junction (x14.0), Nerve - Tibial (x6.8), Esophagus - Muscularis (x5.8), and Artery - Tibial (x5.6).

Protein differential expression in normal tissues from HIPED for MYOC Gene

This gene is overexpressed in Serum (42.6) and Vitreous humor (13.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for MYOC Gene



NURSA nuclear receptor signaling pathways regulating expression of MYOC Gene:

MYOC

SOURCE GeneReport for Unigene cluster for MYOC Gene:

Hs.436037

mRNA Expression by UniProt/SwissProt for MYOC Gene:

Q99972-MYOC_HUMAN
Tissue specificity: Detected in aqueous humor (PubMed:12697062). Detected in the eye (at protein level) (PubMed:11431441). Widely expressed. Highly expressed in various types of muscle, ciliary body, papillary sphincter, skeletal muscle, heart, and bone marrow-derived mesenchymal stem cells. 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 seems to be expressed at higher levels than in normal eyes, regardless of the type or clinical severity of glaucoma. The myocilin 35 kDa fragment is detected in aqueous humor and to a lesser extent in iris and ciliary body.

Evidence on tissue expression from TISSUES for MYOC Gene

  • Eye(4.9)
  • Nervous system(4.4)
  • Heart(4.3)
  • Blood(4.2)
  • Muscle(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MYOC Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
Organs:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • head
General:
  • peripheral nervous system
genes like me logo Genes that share expression patterns with MYOC: view

Primer Products

No data available for Protein tissue co-expression partners for MYOC Gene

Orthologs for MYOC Gene

This gene was present in the common ancestor of chordates.

Orthologs for MYOC Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MYOC 34 35
  • 98.91 (n)
dog
(Canis familiaris)
Mammalia MYOC 34 35
  • 84.82 (n)
cow
(Bos Taurus)
Mammalia MYOC 34 35
  • 83.4 (n)
mouse
(Mus musculus)
Mammalia Myoc 34 16 35
  • 82.79 (n)
rat
(Rattus norvegicus)
Mammalia Myoc 34
  • 81.9 (n)
oppossum
(Monodelphis domestica)
Mammalia MYOC 35
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MYOC 35
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves MYOC 34 35
  • 61 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia myoc 34
  • 59.91 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.23015 34
zebrafish
(Danio rerio)
Actinopterygii myoc 34 35
  • 57.39 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 44 (a)
OneToOne
Species where no ortholog for MYOC was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MYOC Gene

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

Paralogs for MYOC Gene

Paralogs for MYOC Gene

(10) SIMAP similar genes for MYOC Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with MYOC: view

Variants for MYOC Gene

Sequence variations from dbSNP and Humsavar for MYOC Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs121909193 Pathogenic, Glaucoma 1, open angle, A (GLC1A) [MIM:137750] 171,636,349(-) AGCTG(G/T)CTACC reference, missense
rs121909194 Pathogenic, Glaucoma 1, open angle, A (GLC1A) [MIM:137750] 171,636,302(-) ACATT(C/G)ACTTG reference, missense
rs137853277 Glaucoma 1, open angle, A (GLC1A) [MIM:137750] 171,636,382(-) CGAGA(C/T)AGTGA reference, missense
rs139122673 Glaucoma 1, open angle, A (GLC1A) [MIM:137750] 171,636,562(+) CATCC(A/G/T)TGCCA reference, missense
rs140967767 Glaucoma 1, open angle, A (GLC1A) [MIM:137750] 171,636,106(+) CATCT(A/G)CTGAG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for MYOC Gene

Variant ID Type Subtype PubMed ID
esv28731 CNV gain+loss 19812545
nsv1129348 OTHER inversion 24896259
nsv528322 CNV loss 19592680
nsv548191 CNV loss 21841781
nsv999578 CNV loss 25217958

Variation tolerance for MYOC Gene

Residual Variation Intolerance Score: 93.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.67; 72.92% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MYOC Gene

Human Gene Mutation Database (HGMD)
MYOC
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MYOC

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MYOC Gene

Disorders for MYOC Gene

MalaCards: The human disease database

(22) MalaCards diseases for MYOC Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
glaucoma 1a, primary open angle
  • primary open angle glaucoma juvenile onset 1
glaucoma 3a, primary open angle, congenital, juvenile, or adult onset
  • buphthalmos
juvenile glaucoma
  • glaucoma of childhood
glaucoma 1, open angle, e
  • primary open angle glaucoma
open-angle glaucoma
  • glaucoma simplex
- elite association - COSMIC cancer census association via MalaCards
Search MYOC in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MYOC_HUMAN
  • 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. {ECO:0000269 PubMed:10196380, ECO:0000269 PubMed:10330365, ECO:0000269 PubMed:10340788, ECO:0000269 PubMed:10644174, ECO:0000269 PubMed:10798654, ECO:0000269 PubMed:10819638, ECO:0000269 PubMed:10873982, ECO:0000269 PubMed:10916185, ECO:0000269 PubMed:10980537, ECO:0000269 PubMed:11004290, ECO:0000269 PubMed:11774072, ECO:0000269 PubMed:12189160, ECO:0000269 PubMed:12356829, ECO:0000269 PubMed:12362081, ECO:0000269 PubMed:12442283, ECO:0000269 PubMed:12860809, ECO:0000269 PubMed:12872267, ECO:0000269 PubMed:15025728, ECO:0000269 PubMed:15255110, ECO:0000269 PubMed:15534471, ECO:0000269 PubMed:15795224, ECO:0000269 PubMed:16401791, ECO:0000269 PubMed:17210859, ECO:0000269 PubMed:17499207, ECO:0000269 PubMed:25524706, ECO:0000269 PubMed:9005853, ECO:0000269 PubMed:9328473, ECO:0000269 PubMed:9345106, ECO:0000269 PubMed:9361308, ECO:0000269 PubMed:9490287, ECO:0000269 PubMed:9510647, ECO:0000269 PubMed:9521427, ECO:0000269 PubMed:9535666, ECO:0000269 PubMed:9697688, ECO:0000269 PubMed:9792882, ECO:0000269 PubMed:9863594}. 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. {ECO:0000269 PubMed:15733270}. 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). {ECO:0000269 PubMed:15733270}.

Relevant External Links for MYOC

Genetic Association Database (GAD)
MYOC
Human Genome Epidemiology (HuGE) Navigator
MYOC
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MYOC
genes like me logo Genes that share disorders with MYOC: view

No data available for Genatlas for MYOC Gene

Publications for MYOC Gene

  1. Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene. (PMID: 11774072) Vincent A.L. … Heon E. (Am. J. Hum. Genet. 2002) 3 4 22 46 64
  2. A novel myosin-like protein (myocilin) expressed in the connecting cilium of the photoreceptor: molecular cloning, tissue expression, and chromosomal mapping. (PMID: 9169133) Kubota R. … Shimizu N. (Genomics 1997) 2 3 4 22 64
  3. Prevalence of myocilin gene mutations in a novel UK cohort of POAG patients. (PMID: 19407846) Ennis S. … Lotery A. (Eye (Lond) 2010) 3 22 46 64
  4. Differential effects of myocilin and optineurin, two glaucoma genes, on neurite outgrowth. (PMID: 19959812) Koga T. … Yue B.Y. (Am. J. Pathol. 2010) 3 4 22 64
  5. Little evidence for association of the glaucoma gene MYOC with open-angle glaucoma. (PMID: 20447966) Sohn S. … Kee C. (Br J Ophthalmol 2010) 3 22 46 64

Products for MYOC Gene

Sources for MYOC Gene

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