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MYOC myocilin [ Homo sapiens (human) ]

Gene ID: 4653, updated on 25-Apr-2020

Summary

Official Symbol
MYOCprovided by HGNC
Official Full Name
myocilinprovided by HGNC
Primary source
HGNC:HGNC:7610
See related
Ensembl:ENSG00000034971 MIM:601652
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

Genomic context

See MYOC in Genome Data Viewer
Location:
1q24.3
Exon count:
3
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (171635417..171652688, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (171604557..171621773, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 425, pseudogene Neighboring gene proline rich coiled-coil 2C Neighboring gene myocilin opposite strand Neighboring gene profilin 1 pseudogene 1 Neighboring gene ribosomal protein L4 pseudogene 3

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

General protein information

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

NCBI Reference Sequences (RefSeq)

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_000261.2NP_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
    Q99972
    UniProtKB/TrEMBL
    A0A0S2Z421
    Related
    ENSP00000037502.5, ENST00000037502.11
    Conserved Domains (2) summary
    cl02549
    Location:246502
    OLF; Olfactomedin-like domain
    cl23720
    Location:98221
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

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