• Gene id: 4653

Gene Summary

• Gene Symbol: MYOC   Gene   UCSC   Ensembl
• Aliases: GLC1A, GPOA, JOAG, JOAG1, TIGR
• Gene name: myocilin
• Alternate names: myocilin, 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 r,
• Gene location: 1q24.3 (171652687: 171635416)     Exons: 3     NC_000001.11
• Gene summary(Entrez): 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 pr
• OMIM: 157147

Protein Summary

• Protein general information: Q99972  
  • Name: Myocilin (Myocilin 55 kDa subunit) (Trabecular meshwork induced glucocorticoid response protein) [Cleaved into: Myocilin, N terminal fragment (Myocilin 20 kDa N terminal fragment); Myocilin, C terminal fragment (Myocilin 35 kDa N terminal fragment)]
  • Length: 504  
  • Mass: 56972
  • Tissue specificity: Detected in aqueous humor (PubMed
• Sequence:

  MRFFCARCCSFGPEMPAVQLLLLACLVWDVGARTAQLRKANDQSGRCQYTFSVASPNESSCPEQSQAMSVIHNLQ
  RDSSTQRLDLEATKARLSSLESLLHQLTLDQAARPQETQEGLQRELGTLRRERDQLETQTRELETAYSNLLRDKS
  VLEEEKKRLRQENENLARRLESSSQEVARLRRGQCPQTRDTARAVPPGSREVSTWNLDTLAFQELKSELTEVPAS
  RILKESPSGYLRSGEGDTGCGELVWVGEPLTLRTAETITGKYGVWMRDPKPTYPYTQETTWRIDTVGTDVRQVFE
  YDLISQFMQGYPSKVHILPRPLESTGAVVYSGSLYFQGAESRTVIRYELNTETVKAEKEIPGAGYHGQFPYSWGG
  YTDIDLAVDEAGLWVIYSTDEAKGAIVLSKLNPENLELEQTWETNIRKQSVANAFIICGTLYTVSSYTSADATVN
  FAYDTGTGISKTLTIPFKNRYKYSSMIDYNPLEKKLFAWDNLNMVTYDIKLSKM

• Structural information:
  • Protein Domains: (244..50-)
    (/note="Olfactomedin-like-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00446"-)
  • Interpro: IPR031213  IPR003112  
  • Prosite: PS51132
  • PDB: 4WXQ 4WXS 4WXU 6OU0 6OU1 6OU2 6OU3 6PKD 6PKE 6PKF
  • PDBsum: 4WXQ 4WXS 4WXU 6OU0 6OU1 6OU2 6OU3 6PKD 6PKE 6PKF
  • STRING: ENSP00000037502
• Other Databases: GeneCards:  MYOC  Malacards:  MYOC

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1900026	positive regulation of substrate adhesion-dependent cell spreading	IDA	biological process
GO:0051901	positive regulation of mitochondrial depolarization	IDA	biological process
GO:0051496	positive regulation of stress fiber assembly	IDA	biological process
GO:0043408	regulation of MAPK cascade	IDA	biological process
GO:0031410	cytoplasmic vesicle	IDA	cellular component
GO:0062023	collagen-containing extracellular matrix	IDA	cellular component
GO:0030335	positive regulation of cell migration	IDA	biological process
GO:0014068	positive regulation of phosphatidylinositol 3-kinase signaling	IDA	biological process
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0001953	negative regulation of cell-matrix adhesion	IDA	biological process
GO:0001649	osteoblast differentiation	IDA	biological process
GO:0051897	positive regulation of protein kinase B signaling	IDA	biological process
GO:0051894	positive regulation of focal adhesion assembly	IDA	biological process
GO:0051497	negative regulation of stress fiber assembly	IDA	biological process
GO:0035024	negative regulation of Rho protein signal transduction	IDA	biological process
GO:0005758	mitochondrial intermembrane space	IDA	cellular component
GO:0005743	mitochondrial inner membrane	IDA	cellular component
GO:0005741	mitochondrial outer membrane	IDA	cellular component
GO:0038031	non-canonical Wnt signaling pathway via JNK cascade	IMP	biological process
GO:0033268	node of Ranvier	ISS	cellular component
GO:0031175	neuron projection development	IMP	biological process
GO:0014734	skeletal muscle hypertrophy	ISS	biological process
GO:0005783	endoplasmic reticulum	ISS	cellular component
GO:0060348	bone development	ISS	biological process
GO:0045162	clustering of voltage-gated sodium channels	ISS	biological process
GO:0038133	ERBB2-ERBB3 signaling pathway	ISS	biological process
GO:0032027	myosin light chain binding	IPI	molecular function
GO:0022011	myelination in peripheral nervous system	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005109	frizzled binding	IPI	molecular function
GO:0005109	frizzled binding	IPI	molecular function
GO:0005109	frizzled binding	IPI	molecular function
GO:0001968	fibronectin binding	IPI	molecular function
GO:0005615	extracellular space	IEA	cellular component
GO:0030335	positive regulation of cell migration	IEA	biological process
GO:0051492	regulation of stress fiber assembly	IEA	biological process
GO:0001952	regulation of cell-matrix adhesion	IEA	biological process
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0005929	cilium	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005741	mitochondrial outer membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0033268	node of Ranvier	IEA	cellular component
GO:0014734	skeletal muscle hypertrophy	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005615	extracellular space	IEA	cellular component
GO:0001649	osteoblast differentiation	IEA	biological process
GO:0060348	bone development	IEA	biological process
GO:0045162	clustering of voltage-gated sodium channels	IEA	biological process
GO:0038133	ERBB2-ERBB3 signaling pathway	IEA	biological process
GO:0030971	receptor tyrosine kinase binding	IEA	molecular function
GO:0022011	myelination in peripheral nervous system	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005791	rough endoplasmic reticulum	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005615	extracellular space	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005741	mitochondrial outer membrane	IEA	cellular component
GO:0005758	mitochondrial intermembrane space	IEA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

Diseases

Associated diseases	References
Primary open angle glaucoma	KEGG:H00612
Primary open angle glaucoma	KEGG:H00612
open-angle glaucoma	PMID:12860809
juvenile glaucoma	PMID:20806035
juvenile glaucoma	PMID:17893664
juvenile glaucoma	PMID:12442283
juvenile glaucoma	PMID:19234343
juvenile glaucoma	PMID:17893668
juvenile glaucoma	PMID:19784393
juvenile glaucoma	PMID:23886590
juvenile glaucoma	PMID:23566828
juvenile glaucoma	PMID:9792882
juvenile glaucoma	PMID:16401791
juvenile glaucoma	PMID:23517641
primary open angle glaucoma	PMID:20179615
primary open angle glaucoma	PMID:23876925
primary open angle glaucoma	PMID:17197538
primary open angle glaucoma	PMID:18334962
primary open angle glaucoma	PMID:9005853
primary open angle glaucoma	PMID:22879734
primary open angle glaucoma	PMID:16431959
primary open angle glaucoma	PMID:12189160
primary open angle glaucoma	PMID:9535666
primary open angle glaucoma	PMID:22933836
primary open angle glaucoma	PMID:19688280
primary open angle glaucoma	PMID:21655360
primary open angle glaucoma	PMID:15483649
primary open angle glaucoma	PMID:12447164
primary open angle glaucoma	PMID:11595024
primary open angle glaucoma	PMID:23453510
primary open angle glaucoma	PMID:19145250
primary open angle glaucoma	PMID:10196380
primary open angle glaucoma	PMID:22736945
low tension glaucoma	PMID:16148883
Ocular hypertension	PMID:20107173
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R