Myoc myocilin [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Myocprovided by MGI
Official Full Name: myocilinprovided by MGI
Primary source: MGI:MGI:1202864
See related: Ensembl:ENSMUSG00000026697 AllianceGenome:MGI:1202864
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: TIGR; GLC1A
Summary: Enables receptor tyrosine kinase binding activity. Involved in several processes, including ERBB2-ERBB3 signaling pathway; neurogenesis; and skeletal muscle hypertrophy. Located in several cellular components, including Golgi apparatus; endoplasmic reticulum; and node of Ranvier. Is expressed in several structures, including brain; eye; genitourinary system; lung; and meninges. Used to study open-angle glaucoma. Human ortholog(s) of this gene implicated in juvenile glaucoma; low tension glaucoma; ocular hypertension; open-angle glaucoma; and primary open angle glaucoma. Orthologous to human MYOC (myocilin). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in bladder adult (RPKM 6.1), cortex adult (RPKM 5.1) and 11 other tissues See more
Orthologs: human all
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Genomic context

Location:: 1 H2.1; 1 70.29 cM

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (162466719..162477263)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (162639150..162649694)

Chromosome 1 - NC_000067.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Intraocular pressure across the lifespan of Tg-MYOC[Y437H] mice.
Title: Intraocular pressure across the lifespan of Tg-MYOC(Y437H) mice.
MEF2c-Dependent Downregulation of Myocilin Mediates Cancer-Induced Muscle Wasting and Associates with Cachexia in Patients with Cancer.
Title: MEF2c-Dependent Downregulation of Myocilin Mediates Cancer-Induced Muscle Wasting and Associates with Cachexia in Patients with Cancer.
Phenotypic differences observed in mouse and human studies of mutant myocilin could be a function of aggregation kinetics rates, which would alter the lifetime of putatively toxic protofibrillar intermediates.
Title: Differential Misfolding Properties of Glaucoma-Associated Olfactomedin Domains from Humans and Mice.
For this study, we utilized a transgenic mouse expressing human mutant MYOC Y437H protein and we examined its skeletal (gastrocnemius) muscle phenotype. Electron micrographs showed that sarcomeres in the skeletal muscle of mutant CMV-MYOC-Y437H mice had multiple M-bands.
Title: Mutant myocilin impacts sarcomere ultrastructure in mouse gastrocnemius muscle.
chaperone alphaB-crystallin (CRYAB) is a MYOC-binding partner and that co-expression of these two proteins increases protein aggregates.
Title: Binding of a glaucoma-associated myocilin variant to the αB-crystallin chaperone impedes protein clearance in trabecular meshwork cells.
mutant myocilin induces abnormal ECM accumulation in the ER of TM cells, which may be responsible for reduced outflow facility and IOP elevation in myocilin-associated glaucoma.
Title: Expression of Mutant Myocilin Induces Abnormal Intracellular Accumulation of Selected Extracellular Matrix Proteins in the Trabecular Meshwork.
Mutated myocilin and heterozygous Sod2 deficiency act synergistically in a mouse model of open-angle glaucoma
Title: Mutated myocilin and heterozygous Sod2 deficiency act synergistically in a mouse model of open-angle glaucoma.
myocilin promotes cell proliferation and resistance to apoptosis via the ERK1/2 MAPK signaling pathway.
Title: Myocilin regulates cell proliferation and survival.
Myocilin binds to ErbB2/ErbB3, activates these receptors, and affects the downstream PI3K-AKT signaling pathway
Title: Myocilin mediates myelination in the peripheral nervous system through ErbB2/3 signaling.
Myocilin also stimulated osteogenic differentiation of wild-type MSCs, which was associated with activation of the p38, Erk1/2, and JNK MAP kinase signaling pathways
Title: Myocilin stimulates osteogenic differentiation of mesenchymal stem cells through mitogen-activated protein kinase signaling.

Submit: New GeneRIF Correction See all GeneRIFs (20)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Targeted (5) 1 citation

General gene information

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Markers

Myoc (e-PCR), detects polymorphism
- UniSTS:526848

PMC99941P1 (e-PCR)
- UniSTS:273707

AI957332 (e-PCR)
- UniSTS:178489

Myoc (e-PCR), detects polymorphism
- UniSTS:143975

AF039869 (e-PCR)
- UniSTS:158874

PMC48141P1 (e-PCR)
- UniSTS:273310

PMC48141P2 (e-PCR)
- UniSTS:273311

PMC48141P3 (e-PCR)
- UniSTS:273312

PMC48141P4 (e-PCR)
- UniSTS:273313

PMC48141P5 (e-PCR)
- UniSTS:273314

PMC48141P6 (e-PCR)
- UniSTS:273315

PMC48141P7 (e-PCR)
- UniSTS:273316

PMC48141P8 (e-PCR)
- UniSTS:273317

PMC48141P9 (e-PCR)
- UniSTS:273318

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables fibronectin binding	IEA Inferred from Electronic Annotation more info
enables fibronectin binding	ISO Inferred from Sequence Orthology more info
enables frizzled binding	IEA Inferred from Electronic Annotation more info
enables frizzled binding	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables myosin light chain binding	IEA Inferred from Electronic Annotation more info
enables myosin light chain binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables receptor tyrosine kinase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in ERBB2-ERBB3 signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in bone development	IDA Inferred from Direct Assay more info	PubMed
involved_in clustering of voltage-gated sodium channels	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in myelination in peripheral nervous system	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of Rho protein signal transduction	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of Rho protein signal transduction	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of cell-matrix adhesion	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cell-matrix adhesion	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of stress fiber assembly	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of stress fiber assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in neuron projection development	ISO Inferred from Sequence Orthology more info
involved_in neuron projection development	ISS Inferred from Sequence or Structural Similarity more info
involved_in non-canonical Wnt signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in non-canonical Wnt signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
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 osteoblast differentiation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of JNK cascade	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of JNK cascade	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cell migration	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cell migration	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of focal adhesion assembly	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of focal adhesion assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of mitochondrial depolarization	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of mitochondrial depolarization	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of stress fiber assembly	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of stress fiber assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of substrate adhesion-dependent cell spreading	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of substrate adhesion-dependent cell spreading	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of MAPK cascade	ISO Inferred from Sequence Orthology more info
involved_in regulation of MAPK cascade	ISS Inferred from Sequence or Structural Similarity more info
involved_in signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in skeletal muscle hypertrophy	IDA Inferred from Direct Assay more info	PubMed

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 Golgi apparatus	ISO Inferred from Sequence Orthology more info
located_in Golgi apparatus	ISS Inferred from Sequence or Structural Similarity more info
located_in Schmidt-Lanterman incisure	ISO Inferred from Sequence Orthology more info
located_in cilium	IEA Inferred from Electronic Annotation more info
located_in collagen-containing extracellular matrix	ISO Inferred from Sequence Orthology more info
located_in collagen-containing extracellular matrix	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasmic vesicle	ISO Inferred from Sequence Orthology more info
located_in cytoplasmic vesicle	ISS Inferred from Sequence or Structural Similarity more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	ISS Inferred from Sequence or Structural Similarity more info
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 extracellular space	ISO Inferred from Sequence Orthology more info	PubMed
located_in mesaxon	ISO Inferred from Sequence Orthology more info
located_in mitochondrial inner membrane	ISO Inferred from Sequence Orthology more info
located_in mitochondrial inner membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in mitochondrial intermembrane space	ISO Inferred from Sequence Orthology more info
located_in mitochondrial intermembrane space	ISS Inferred from Sequence or Structural Similarity more info
located_in mitochondrial outer membrane	ISO Inferred from Sequence Orthology more info
located_in mitochondrial outer membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in myelin sheath abaxonal region	ISO Inferred from Sequence Orthology more info
located_in node of Ranvier	IDA Inferred from Direct Assay more info	PubMed
located_in rough endoplasmic reticulum	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: myocilin

Names: trabecular meshwork-induced 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.