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Aliases for MYOC Gene

Aliases for MYOC Gene

  • Myocilin, Trabecular Meshwork Inducible Glucocorticoid Response 2 3
  • GLC1A 3 4 6
  • TIGR 3 4 6
  • Myocilin 55 KDa Subunit 3 4
  • GPOA 3 6
  • JOAG 3 6
  • Mutated Trabecular Meshwork-Induced Glucocorticoid Response Protein 3
  • Trabecular Meshwork-Induced Glucocorticoid Response Protein 4
  • Myocilin 3
  • JOAG1 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, Trabecular Meshwork Inducible Glucocorticoid Response) is a Protein Coding gene. Diseases associated with MYOC include glaucoma 1a, primary open angle and juvenile glaucoma. Among its related pathways are Non-Canonical Wnt Pathway and Non-Canonical Wnt Pathway. GO annotations related to this gene include structural molecule activity. An important paralog of this gene is GLDN.

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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MYOC Gene

Genomics for MYOC Gene

Regulatory Elements for MYOC Gene

Genomic Location for MYOC Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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). Interacts with OLFM3, FN1, NRCAM, GLDN and NFASC. Interacts (via N-terminus) with MYL2. Interacts with SFRP1, FRZB, FZD7, FZD10, FZD1 and WIF1; regulates Wnt signaling. Interacts with SNTA1; regulates muscle hypertrophy. Interacts with ERBB2 and ERBB3; acivates ERBB2-ERBB3 signaling pathway. Interacts with SNCG; affects its secretion and its aggegation.
    SequenceCaution:
    • Sequence=BAA24532.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

neXtProt entry for MYOC Gene

Proteomics data for MYOC Gene at MOPED

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:

No data available for DME Specific Peptides for MYOC Gene

Domains for MYOC Gene

Protein Domains for MYOC Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q99972

UniProtKB/Swiss-Prot:

MYOC_HUMAN :
  • Q99972
Domain:
  • Contains 1 olfactomedin-like domain.
genes like me logo Genes that share domains with MYOC: view

No data available for Gene Families 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.

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 12019210
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

Phenotypes for MYOC Gene

MGI mutant phenotypes for MYOC:
inferred from 5 alleles
GenomeRNAi human phenotypes for MYOC:
genes like me logo Genes that share phenotypes with MYOC: view

miRNA for MYOC Gene

miRTarBase miRNAs that target MYOC

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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. It is only imported to mitochondria in the trabecular meshwork. Localizes to the Golgi apparatus in Schlemms canal endothelial cells. Appears in the extracellular space of trabecular meshwork cells by an unconventional mechanism, likely associated with exosome-like vesicles. Localizes in trabecular meshwork extracellular matrix.
Myocilin, C-terminal fragment: Secreted.
Myocilin, N-terminal fragment: Endoplasmic reticulum. Note=Remains retained in the endoplasmic reticulum.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MYOC Gene COMPARTMENTS Subcellular localization image for MYOC gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 5
cytoskeleton 2
cytosol 1
golgi apparatus 1
lysosome 1
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for MYOC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0005615 extracellular space IDA 17317787
GO:0005741 mitochondrial outer membrane IDA 17516541
GO:0005743 mitochondrial inner membrane IDA 17516541
GO:0005758 mitochondrial intermembrane space IDA 17516541
genes like me logo Genes that share ontologies with MYOC: view

Pathways for MYOC Gene

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

Pathways by source for MYOC Gene

2 Sino Biological pathways for MYOC Gene

Gene Ontology (GO) - Biological Process for MYOC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001649 osteoblast differentiation IDA 23629661
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 --
GO:0022011 myelination in peripheral nervous system ISS --
genes like me logo Genes that share ontologies with MYOC: view

Compounds for MYOC Gene

(16) Novoseek inferred chemical compound relationships for MYOC Gene

Compound -log(P) Hits PubMed IDs
dexamethasone 57.1 35
leucine 47 8
polyacrylamide 13.3 1
steroid 12.2 11
asparagine 11.2 2
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:

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 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 (14.0), Nerve - Tibial (6.8), Esophagus - Muscularis (5.8), and Artery - Tibial (5.6).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for MYOC Gene

SOURCE GeneReport for Unigene cluster for MYOC Gene Hs.436037

mRNA Expression by UniProt/SwissProt for MYOC Gene

Q99972-MYOC_HUMAN
Tissue specificity: Expressed in large amounts in various types of muscle, ciliary body, papillary sphincter, skeletal muscle, heart, bone marrow-derived mesenchymal stem cells 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. The myocilin 35 kDa fragment is detected in aqueous humor and at the less extend in iris and ciliary body.
genes like me logo Genes that share expressions with MYOC: view

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 35
  • 98.91 (n)
  • 98.78 (a)
MYOC 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MYOC 35
  • 83.4 (n)
  • 82.24 (a)
MYOC 36
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MYOC 35
  • 84.82 (n)
  • 84.27 (a)
MYOC 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Myoc 35
  • 82.79 (n)
  • 81.84 (a)
Myoc 16
Myoc 36
  • 82 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MYOC 36
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MYOC 36
  • 61 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Myoc 35
  • 81.9 (n)
  • 81.56 (a)
chicken
(Gallus gallus)
Aves MYOC 35
  • 61 (n)
  • 56.01 (a)
MYOC 36
  • 51 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.23015 35
tropical clawed frog
(Silurana tropicalis)
Amphibia myoc 35
  • 59.91 (n)
  • 55.86 (a)
zebrafish
(Danio rerio)
Actinopterygii myoc 35
  • 57.39 (n)
  • 51.89 (a)
myoc 36
  • 46 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 44 (a)
OneToOne
Species with no ortholog for MYOC:
  • 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

Selected 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 MAF
rs171001 -- 171,641,287(-) cccca(C/G)gtggc intron-variant
rs171002 -- 171,646,279(-) CTCAG(A/C)ATACT intron-variant
rs171003 -- 171,647,381(-) ATGCC(C/T)GGCTA intron-variant
rs171006 -- 171,649,809(-) ACTTT(C/T)TTTCT intron-variant
rs182907 -- 171,647,682(-) GATGA(G/T)AATCC intron-variant

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

Variant ID Type Subtype PubMed ID
esv28731 CNV Gain+Loss 19812545
nsv528322 CNV Loss 19592680
nsv872544 CNV Gain 21882294

Relevant External Links for MYOC Gene

HapMap Linkage Disequilibrium report
MYOC
Human Gene Mutation Database (HGMD)
MYOC
Locus Specific Mutation Databases (LSDB)
MYOC

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

Disorders for MYOC Gene

(1) OMIM Diseases for MYOC Gene (601652)

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:16401791, ECO:0000269 PubMed:17210859, ECO:0000269 PubMed:17499207, 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}.

(2) University of Copenhagen DISEASES for MYOC Gene

(24) Novoseek inferred disease relationships for MYOC Gene

Disease -log(P) Hits PubMed IDs
glc1a 97.9 74
primary open angle glaucoma 94.2 57
glaucoma open-angle 94 120
glaucoma 91.8 187
glaucoma, primary open angle, adult-onset 86.3 1

Relevant External Links for MYOC

Genetic Association Database (GAD)
MYOC
Human Genome Epidemiology (HuGE) Navigator
MYOC
genes like me logo Genes that share disorders with MYOC: view

Publications for MYOC Gene

  1. 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 23
  2. 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 23 48
  3. Prevalence of myocilin mutations in adults with primary open-angle glaucoma in Ghana, West Africa. (PMID: 12362081) Challa P. … Allingham R.R. (J. Glaucoma 2002) 3 4 23 48
  4. Novel MYOC gene mutation, Phe369Leu, in Japanese patients with primary open-angle glaucoma detected by denaturing high-performance liquid chromatography. (PMID: 15534471) Ishikawa K. … Mashima Y. (J. Glaucoma 2004) 3 4 23 48
  5. Myocilin gene implicated in primary congenital glaucoma. (PMID: 15733270) Kaur K. … Chakrabarti S. (Clin. Genet. 2005) 3 4 23 48

Products for MYOC Gene

Sources for MYOC Gene

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