Myocilin information

MYOC
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	4WXQ, 4WXS, 4WXU
Identifiers
Aliases	MYOC, GLC1A, GPOA, JOAG, JOAG1, TIGR, myocilin
External IDs	OMIM: 601652; MGI: 1202864; HomoloGene: 220; GeneCards: MYOC; OMA:MYOC - orthologs
Gene location (Human)
Chr.	Chromosome 1 (human)
End	171,652,688 bp
Gene location (Mouse)
Chr.	Chromosome 1 (mouse)
End	162,477,262 bp
RNA expression pattern
	Top expressed in
	Achilles tendon; ; gastric mucosa; ; synovial joint; ; tibial nerve; ; popliteal artery; ; tibial arteries; ; glutes; ; right coronary artery; ; trachea; ; tendon of biceps brachii;
	Top expressed in
	skin of external ear; ; ankle; ; lip; ; extensor digitorum longus muscle; ; intercostal muscle; ; plantaris muscle; ; Ependyma of ventricular system of brain; ; muscle of thigh; ; gastrocnemius muscle; ; medial head of gastrocnemius muscle;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	frizzled binding; receptor tyrosine kinase binding; myosin light chain binding; protein binding; fibronectin binding; metal ion binding;
Cellular component	mitochondrial outer membrane; cytoplasmic vesicle; rough endoplasmic reticulum; node of Ranvier; mitochondrial intermembrane space; cell projection; extracellular exosome; membrane; endoplasmic reticulum; extracellular matrix; Golgi apparatus; extracellular region; mitochondrion; cilium; mitochondrial inner membrane; extracellular space; collagen-containing extracellular matrix;
Biological process	non-canonical Wnt signaling pathway via JNK cascade; regulation of cell-matrix adhesion; positive regulation of substrate adhesion-dependent cell spreading; myelination in peripheral nervous system; negative regulation of stress fiber assembly; positive regulation of focal adhesion assembly; positive regulation of phosphatidylinositol 3-kinase signaling; positive regulation of mitochondrial depolarization; ERBB2-ERBB3 signaling pathway; positive regulation of stress fiber assembly; clustering of voltage-gated sodium channels; bone development; positive regulation of cell migration; regulation of stress fiber assembly; negative regulation of Rho protein signal transduction; osteoblast differentiation; positive regulation of protein kinase B signaling; skeletal muscle hypertrophy; neuron projection development; regulation of MAPK cascade; negative regulation of cell-matrix adhesion;
	Sources:Amigo / QuickGO
Orthologs
	4653
	17926
	ENSG00000034971
	ENSMUSG00000026697
	Q99972
	O70624
	NM_000261
	NM_010865
	NP_000252
	NP_034995
	Wikidata
View/Edit Human	View/Edit Mouse

Myocilin, trabecular meshwork inducible glucocorticoid response (TIGR), also known as MYOC, is a protein which in humans is encoded by the MYOC gene.^[5]^[6] Mutations in MYOC are a major cause of glaucoma.

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000034971 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000026697 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Stone EM, Fingert JH, Alward WL, Nguyen TD, Polansky JR, Sunden SL, et al. (January 1997). "Identification of a gene that causes primary open angle glaucoma". Science. 275 (5300): 668–70. doi:10.1126/science.275.5300.668. PMID 9005853. S2CID 46810363.
^ Kubota R, Noda S, Wang Y, Minoshima S, Asakawa S, Kudoh J, et al. (May 1997). "A novel myosin-like protein (myocilin) expressed in the connecting cilium of the photoreceptor: molecular cloning, tissue expression, and chromosomal mapping". Genomics. 41 (3): 360–9. doi:10.1006/geno.1997.4682. PMID 9169133.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000034971 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000026697 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[Stone_1997-5] Stone EM, Fingert JH, Alward WL, Nguyen TD, Polansky JR, Sunden SL, et al. (January 1997). "Identification of a gene that causes primary open angle glaucoma". Science. 275 (5300): 668–70. doi:10.1126/science.275.5300.668. PMID 9005853. S2CID 46810363.

[Kubota_1997-6] Kubota R, Noda S, Wang Y, Minoshima S, Asakawa S, Kudoh J, et al. (May 1997). "A novel myosin-like protein (myocilin) expressed in the connecting cilium of the photoreceptor: molecular cloning, tissue expression, and chromosomal mapping". Genomics. 41 (3): 360–9. doi:10.1006/geno.1997.4682. PMID 9169133.

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Dan Gaton