MYOC myocilin [Homo sapiens (human)] - Gene

Summary

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

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_000001.11 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: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
Myocilin misfolding and glaucoma: A 20-year update.
Title: Myocilin misfolding and glaucoma: A 20-year update.
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.
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.
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.
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.
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.
Prevalence of MYOC risk variants for glaucoma in different populations.
Title: Prevalence of MYOC risk variants for glaucoma in different populations.
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.
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

G42280 (e-PCR)
- UniSTS:93953

PMC156599P1 (e-PCR)
- UniSTS:271394

MYOC_8491 (e-PCR)
- UniSTS:467788

AL034307 (e-PCR)
- UniSTS:94130

SHGC-75918 (e-PCR)
- UniSTS:29396

PMC310708P1 (e-PCR)
- UniSTS:272634

PMC310708P2 (e-PCR)
- UniSTS:272635

PMC310708P3 (e-PCR)
- UniSTS:272636

G42275 (e-PCR)
- UniSTS:93948

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 more info	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

NG_008859.1 RefSeqGene

Range

4946..22217

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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)