1. Gene
  2. MYOC - myocilin Gene

MYOC - myocilin Gene

Homo sapiens

Also known as GPOA; JOAG; TIGR; GLC1A; JOAG1

Gene ID: 4653 | Gene type: protein coding

About MYOC

Cytogenetic location: 1q24.3 Genomic coordinates (GRCh38): 1:171,635,417-171,652,688 (from NCBI)

This gene has 2 transcripts (splice variants), 257 orthologues, 9 paralogues and is associated with 6 phenotypes. Biased expression in fat (RPKM 41.3), stomach (RPKM 12.2) and 8 other tissues.

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]

MYOC Products(1)

mRNA Protein Name
NM_000261.2 NP_000252.1 myocilin precursor
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables fibronectin binding IPI
IPI: Inferred from physical interaction
11773026 GOA
enables frizzled binding IPI
IPI: Inferred from physical interaction
19188438 GOA
enables myosin light chain binding IPI
IPI: Inferred from physical interaction
11773029 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
11773029 GOA
Biological Process GO Annotation Evidence Reference Source
involved in negative regulation of Rho protein signal transduction IDA
IDA: Inferred from direct assay
17984096 GOA
involved in negative regulation of cell-matrix adhesion IDA
IDA: Inferred from direct assay
17984096 GOA
involved in negative regulation of stress fiber assembly IDA
IDA: Inferred from direct assay
17984096 GOA
involved in neuron projection development IMP
IMP: Inferred from mutant phenotype
19959812 GOA
involved in non-canonical Wnt signaling pathway IMP
IMP: Inferred from mutant phenotype
19188438 GOA
involved in osteoblast differentiation IDA
IDA: Inferred from direct assay
23629661 GOA
involved in positive regulation of JNK cascade IMP
IMP: Inferred from mutant phenotype
19188438 GOA
involved in positive regulation of cell migration IDA
IDA: Inferred from direct assay
21656515 GOA
involved in positive regulation of focal adhesion assembly IDA
IDA: Inferred from direct assay
18855004 GOA
involved in positive regulation of mitochondrial depolarization IDA
IDA: Inferred from direct assay
17516541 GOA
involved in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IDA
IDA: Inferred from direct assay
21656515 GOA
involved in positive regulation of stress fiber assembly IDA
IDA: Inferred from direct assay
19188438 GOA
involved in positive regulation of substrate adhesion-dependent cell spreading IDA
IDA: Inferred from direct assay
18855004 GOA
involved in regulation of MAPK cascade IDA
IDA: Inferred from direct assay
23629661 GOA
Cellular Component GO Annotation Evidence Reference Source
located in Golgi apparatus IDA
IDA: Inferred from direct assay
11053284 GOA
located in collagen-containing extracellular matrix IDA
IDA: Inferred from direct assay
11773026 GOA
located in cytoplasmic vesicle IDA
IDA: Inferred from direct assay
11431441 GOA
located in extracellular space IDA
IDA: Inferred from direct assay
17317787 GOA
located in mitochondrial inner membrane IDA
IDA: Inferred from direct assay
17516541 GOA
located in mitochondrial intermembrane space IDA
IDA: Inferred from direct assay
17516541 GOA
located in mitochondrial outer membrane IDA
IDA: Inferred from direct assay
17516541 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MYOC Protein Structure

OLF

OLF: Olfactomedin-like domain (248 - 502)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 504 a.a.
Protein Preferred Names Protein Names

myocilin

juvenile-onset open-angle glaucoma 1

MYOC Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
MYOC Q99972 MYL2 Homo sapiens P10916
Anti Tag CoIP
11773029
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant MYOC Proteins

Cat. No. Product Name Accession Purity
HY-P75931 Myocilin Protein, Human (HEK293, His) Q99972 (R33-M504) ≥95%

Related Diseases

Diseases Alias
Glaucoma 1, Open Angle, A

GLC1A

Joag1

Glaucoma, Primary Open Angle, Juvenile-Onset, 1

Glaucoma 1a, Primary Open Angle

Primary Open Angle Glaucoma Juvenile Onset 1

Glaucoma Hereditary, Juvenile

Juvenile-Onset Primary Open Angle Glaucoma 1

Primary Open Angle Glaucoma 1a

Glaucoma, Open Angle, Type 1a

Juvenile Glaucoma

Glaucoma Of Childhood

Hydrophthalmos

Glaucoma 3, Primary Congenital, A

Buphthalmos

Glaucoma, Congenital

Congenital Glaucoma

Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, Or Adult Onset

GLC3A

Glc3

Buphthalmia

Primary Congenital Glaucoma

Glaucoma, Primary Open Angle, Juvenile-Onset

Simple Buphthalmos

Buphthalmus

Glaucoma, Primary Open Angle, Adult-Onset

Primary Congenital Glaucoma 3a

Primary Infantile Glaucoma Type 3a

Glaucoma 3a, Primary Congenital

Glaucoma, Congenital, Primary, Type 3a

Hydrophthalmos

Cystic Eyeball

Glaucoma, Primary Open Angle

Glaucoma 1, Open Angle, E

Primary Open Angle Glaucoma

POAG

Adult-Onset Primary Open Angle Glaucoma

Chronic Simple Glaucoma

GLC1E

Primary Open Angle Glaucoma 1e

Glaucoma, Open Angle, Primary

Open-Angle Glaucoma

Glaucoma Simplex

Pigmentary Glaucoma

Wide-Angle Glaucoma

Glaucoma, Open-Angle

Open Angle Glaucoma

Glaucoma Open-Angle

Chronic Simple Glaucoma

Coag - [Chronic Open-Angle Glaucoma]

Csg - [Chronic Simple Glaucoma]

Poag - [Primary Open-Angle Glaucoma]

Oag - [Open-Angle Glaucoma]

Chronic Glaucoma

Chronic Open Angle Glaucoma

Simple Glaucoma

Chronic Noncongestive Glaucoma

Ltg - [Low Tension Glaucoma]

Noncongestive Glaucoma

Nonobstructive Glaucoma

Normal Pressure Glaucoma

Primary Low Tension Glaucoma

Low-Tension Glaucoma

Residual Stage Low Tension Glaucoma

Open Cleft Glaucoma

Primary Angle-Closure Glaucoma

Primary Angle Closure Glaucoma

Angle Closure Glaucoma

Acg - [Angle Closure Glaucoma]

Angle-Closure Glaucoma

Closed Angle Glaucoma

Acute Glaucoma

Prodromal Angle Closure Glaucoma

Ocular Hypertension

Hypertension, Ocular

Intraocular Pressure Increase

Oh - [Ocular Hypertension]

Oht - [Ocular Hypertension]

Intraocular Pressure Quantitative Trait Locus

Glaucoma

IOPQTL

Glaucoma, Susceptibility To

Postinfectious Glaucoma

Glaucoma With Ocular Inflammation

Glaucoma Secondary To Eye Inflammation

Traumatic Glaucoma

Glaucoma With Concussion Of Globe

Glaucoma Due To Ocular Trauma

Glaucoma Associated With Ocular Trauma

Glaucoma Secondary To Drugs

Primary Congenital Glaucoma
Steroid-Induced Glaucoma

Corticosteroid-Induced Glaucoma

Lymphopenia

Lymphocytopenia

Corneal Edema

Corneal Oedema

Infiltrate Of Cornea

Immune Deficiency Disease

Immunodeficiency

Primary Immunodeficiency

Primary Immunodeficiency Disease

Immunologic Deficiency Syndromes

Hypoimmunity

Immune Deficiency Disorder

Immunodeficiency Syndrome

Immune Disorder

Primary Immune Deficiency Disorder

Immune System Diseases

Human Immunodeficiency Virus Infection

Hiv - [Human Immunodeficiency Virus Infection]

Hiv Positive Nos

Hiv Disease

Acquired Immune Deficiency Syndrome-Related Complex

Aids-Like Syndrome

Aids-Related Complex Nos

Arc - [Aids-Related Complex]

Immunodeficiency Due To Human Immunodeficiency Virus Infection

Unspecified Human Immunodeficiency Virus Disease

Hiv Disease Nos

Human Immunodeficiency Virus Positive Nos

Hiv Nos

Deficiency Of Complement Initial Pathway

Deficiency Of Complement Terminal Pathway

Cfdd - [Complement Factor D Deficiency]

Immunodeficiency With Nk-Cell - [Natural-Killer Cell] Deficiency

Nonfamilial Hypogammaglobulinaemia

Common Variable Immune Deficiency

Nonfamilial Agammaglobulinaemia

Common Variable Agammaglobulinaemia

Agammaglobulinaemia Nos

Agammaglobulinaemia Antibody Deficiency Syndrome

Hypogammaglobulinaemia Antibody Deficiency Syndrome

Acquired Agammaglobulinaemia Nos

Hypogammaglobulinaemia Nos

Hyper Igm

Muscle Hypertrophy

MSLHP

Hypertrophy

Hypertrophy, Muscle

Glaucoma 1, Open Angle, D

Glaucoma, Primary Open Angle, Adult-Onset

GLC1D

Glaucoma 1d, Primary Open Angle

Combined T And B Cell Immunodeficiency
Optic Nerve Disease

Optic Neuropathy

Disorder Of The Second Nerve

Optic Nerve Disorder

Optic Nerve

Abnormality Of The Optic Nerve

Optic Nerve Disorders

Neuropathy, Optic

Disorder Of The Optic Nerve

Severe Combined Immunodeficiency

Scid

Severe Combined Immunodeficiency Disease

Combined T And B Cell Inborn Immunodeficiency

Immunodeficiency, Severe Combined

Scid - [Severe Combined Immunodeficiencies]

Combined Immunodeficiency

Combined T Cell And B Cell Immunodeficiency

Congenital Combined Immunodeficiency

Syndrome With Combined Immunodeficiency

Combined T And B Cell Immunodeficiency

Combined Immunity Deficiency

Combined Immunodeficiency Syndrome

Combined T-Cell And B-Cell Immunodeficiency

Lymphopenic Agammaglobulinaemia

Hydrophthalmos
Acute Closed-Angle Glaucoma

Acute Angle-Closure Glaucoma

Glaucoma, Normal Tension

Low Tension Glaucoma

Glaucoma, Normal Tension, Susceptibility To

Normal Tension Glaucoma

Ntg

Glaucoma, Normal Pressure

NPG

Glaucoma, Normal Pressure, Susceptibility To

Poag/Npg - [Normal Pressure Primary Open-Angle Glaucoma]

Traumatic Glaucoma

Glaucoma Associated With Ocular Trauma

Phacogenic Glaucoma
Ocular Pigment Dispersion With Or Without Glaucoma

Pigment Dispersion Syndrome

Glaucoma-Related Pigment Dispersion Syndrome

OPDG

Pds

Glaucoma, Pigment-Dispersion Type

Gpds1

Pigment-Dispersion Type Glaucoma

Pigment-Dispersion Syndrome

Glaucoma, Open-Angle

Myopia

Near-Sightedness

Short-Sightedness

Nearsightedness

Nearsighted

Near Vision

Close Sighted

Myopic

Short-Sighted

Near Sighted

Keratitis, Hereditary

Keratitis

Autosomal Dominant Keratitis

Hereditary Keratitis

Dominantly Inherited Keratitis

Keratitis Hereditary

KERH

Macular Degeneration, Age-Related, 1

Macular Degeneration

Age-Related Macular Degeneration

Macular Degeneration, Age-Related

Age Related Macular Degeneration

Age Related Macular Degeneration 1

ARMD1

Senile Macular Degeneration

Maculopathy, Age-Related, 1

Macular Degeneration, Age-Related, Reduced Risk Of

Age Related Maculopathy 1

Age Related Maculopathies

Age Related Maculopathy

Senile Macular Retinal Degeneration

Macular Degeneration Of Retina

Age-Related Maculopathy

Amd

Armd

Age-Related Maculopathy, Susceptibility To

Maculopathy Age-Related

Macular Degeneration, Age-Related, 1, Susceptibility To

Maculopathy, Age-Related

Macular Degeneration, Age-Related, Type 1

Macular Degeneration, Age-Related, 2

Leber Hereditary Optic Neuropathy, Modifier Of

Leber Optic Atrophy

Leber Hereditary Optic Neuropathy

LHON

Leber'S Hereditary Optic Neuropathy

Leber Optic Atrophy, Susceptibility To

Leber'S Optic Atrophy

LOAM

Loas

Leber'S Disease

Leber'S Optic Neuropathy

Optic Atrophy, Hereditary, Leber

Lhon, Modifier Of

Optic Atrophy, Leber Type

Hereditary Optic Neuroretinopathy

Leber Hereditary Optic Atrophy

Loa

Optic Atrophy Leber Type

Leber Hereditary Optic Neuropathy, Modifier

Leber Hereditary Optic Neuropathy Susceptibility

Modifier Of Leber Hereditary Optic Neuropathy

Lebers Hereditary Optic Neuropathy

Leber Congenital Amaurosis

Chronic Closed-Angle Glaucoma

Anatomical Narrow Angle Glaucoma

Chronic Angle-Closure Glaucoma

Chronic Narrow Angle Glaucoma

Secondary Angle-Closure Glaucoma - Synechial

Excessive Tearing

Epiphora

Lacrimal Apparatus Diseases

Excessive Tear Production

Watering Eye

Iris Disease

Iris Diseases

Megalocornea

Isolated Congenital Megalocornea

Congenital Anterior Megalophthalmia

Anterior Megalophthalmos

Mgc1

Mgcn

Congenital Keratoglobus

Eye Disease

Eye Diseases

Abnormality Of The Eye

Toxoplasma Oculopathy

Axenfeld-Rieger Syndrome

Axenfeld Syndrome

Rieger Syndrome

Rieger Anomaly

Axenfeld Anomaly

Anomaly, Rieger'S

Hagedoom Syndrome

Rgs - Rieger Syndrome

Rieger'S Anomaly

Goniodysgenesis Hypodontia

Iridogoniodysgenesis With Somatic Anomalies

Ars

Axenfeld And Rieger Anomaly

Axra

Axrs

Rieger Eye Malformation Sequence

Neovascular Glaucoma

Glaucoma, Neovascular

Secondary Angle-Closure Glaucoma With Rubeosis

Glaucoma Neovascular

Corneal Dystrophy
Cranial Nerve Disease

Cranial Nerve Disorder

Disorder Of Cranial Nerve

Cranial Nerve Diseases

Peters-Plus Syndrome

Krause-Kivlin Syndrome

Peters Plus Syndrome

Peters Anomaly

Irido-Corneo-Trabecular Dysgenesis

PTRPLS

Peters Anomaly With Short-Limb Dwarfism

Peters Anomaly-Short Limb Dwarfism Syndrome

Peters Anomaly With Short Limb Dwarfism

Peters Congenital Glaucoma

Krause-Van Schooneveld-Kivlin Syndrome

Peters' Plus Syndrome

Peters'-Plus Syndrome

Anomaly Peters

Lens Disease

Lens Diseases

Microphthalmia, Isolated 2

Isolated Microphthalmia 2

MCOP2

Anophthalmia, Clinical, Isolated

Microphthalmia, Isolated, 2

Isolated Clinical Anophthalmia

Microphthalmia, Isolated, Type 2

Anterior Segment Dysgenesis

Anterior Segment Developmental Anomaly

Anterior Segment Mesenchymal Dysgenesis

Corneal Opacification And Other Ocular Anomalies

Sclerocornea With Other Ocular Anomalies

Asmd

Asod

Anterior Segment Ocular Dysgenesis

Foxe3-Related Ocular Disorder

Familial Ocular Anterior Segment Mesenchymal Dysgenesis

Dysgenesis, Anterior Segment

Irido-Corneal Dysgenesis

Axenfeld-Rieger Syndrome, Type 3

Refractive Error

Refractive Errors

Sweeney-Cox Syndrome

SWCOS

Sensory System Disease
Nanophthalmos

Nanophthalmia

Aniridia 1

Aniridia

Congenital Aniridia

AN1

An

Cataract With Late-Onset Corneal Dystrophy

Aplasia Of Iris

Absent Iris

Irideremia

Aniridia Ii, Formerly

An2, Formerly

An2

Aniridia Type Ii

Aniridia, Type 1

An-1

Absence Of Iris

Agenesis Of Iris

Congenital Absence Of Iris

Hereditary Aniridia

Sporadic Aniridia

Sorsby Fundus Dystrophy

SFD

Fundus Dystrophy, Pseudoinflammatory, Of Sorsby

Sorsby'S Fundus Dystrophy

Macular Dystrophy, Hemorrhagic

Hemorrhagic Macular Dystrophy

Pseudoinflammatory Fundus Dystrophy Of Sorsby

Sorsby'S Pseudoinflammatory Macular Dystrophy

Sorsby Pseudoinflammatory Fundus Dystrophy

Dystrophy, Fundus, Sorsby

3-Methylglutaconic Aciduria, Type Iii

Optic Atrophy

3-Methylglutaconic Aciduria Type 3

Costeff Syndrome

Mga3

Costeff Optic Atrophy Syndrome

Optic Atrophy Plus Syndrome

Infantile Optic Atrophy With Chorea And Spastic Paraplegia

3-Methylglutaconic Aciduria Type Iii

Autosomal Recessive Optic Atrophy Plus Syndrome

Autosomal Recessive Optic Atrophy Type 3

Opa3 Defect

MGCA3

Mga, Type Iii

Iraqi Jewish Optic Atrophy Plus

Mga Type Iii

Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia

Iraqi-Jewish 'Optic Atrophy Plus'

Optic Atrophy 3, Autosomal Recessive

Opa3, Autosomal Recessive

Opa3-Related 3-Methylglutaconic Aciduria

Iraqi-Jewish Optic Atrophy Plus

Atrophy Of Optic Disc

3-Alpha Methylglutaconic Aciduria Type Iii

Optic Atrophy 3

Optic Atrophy Infantile With Chorea And Spastic Paraplegia

Autosomal Recessive Opa3

Autosomal Recessive Optic Atrophy 3

3-Methylglutaconic Aciduria 3

3-Alpha-Methylglutaconic Aciduria Type 3

Optic Atrophy 3 Autosomal Recessive

Atrophy, Optic

Atrophy, Optic, Plus Syndrome

Optic Nerve Atrophy

Primary Optic Atrophy

Oa - [Optic Atrophy]

Second Cranial Nerve Atrophy

Second Cranium Nerve Atrophy

Uveal Disease

Uveal Diseases

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

Peripheral Nervous System Disease

Peripheral Neuropathy

Peripheral Nerve Disease

Peripheral Nerve Disorders

Neuropathy, Peripheral

Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder

Leber Plus Disease

Leber Congenital Amaurosis

Lca

Leber'S Amaurosis

Leber'S Disease

Amaurosis Congenita Of Leber

Amaurosis Congenita Of Leber, Type 1

Lhon Plus Disease

Congenital Absence Of The Rods And Cones

Congenital Retinal Blindness

Crb

Congenital Amaurosis Of Retinal Origin

Leber'S Congenital Amaurosis

Leber Congenital Amaurosis 1

Leber'S Congenital Tapetoretinal Degeneration

Leber'S Congenital Tapetoretinal Dysplasia

Lca1

Leber Congenital Amaurosis Type 1

Retinal Blindness, Congenital

Amaurosis, Leber Congenital

Dysgenesis Neuroepithelialis Retinae

Hereditary Epithelial Dysplasia Of Retina

Hereditary Retinal Aplasia

Heredoretinopathia Congenitalis

Leber Abiotrophy

Leber Congenital Tapetoretinal Degeneration

Lebers Congenital Amaurosis

Optic Atrophy, Hereditary, Leber

Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta MYOC VGNC VGNC:75121
Canis familiaris MYOC VGNC VGNC:43576
Mus musculus MYOC MGD MGI:1202864
Bos taurus MYOC VGNC VGNC:31833
Felis catus MYOC VGNC VGNC:68403
Rattus norvegicus MYOC RGD RGD:620430
Others MYOC NCBI