MYOC (myocilin)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4653
Gene name Gene Name - the full gene name approved by the HGNC.
Myocilin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MYOC
Synonyms (NCBI Gene) Gene synonyms aliases
GLC1A, GPOA, JOAG, JOAG1, TIGR
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q24.3
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(20)
SNP ID Visualize variation Clinical significance Consequence
rs28936694 C>A Pathogenic Coding sequence variant, missense variant
rs74315328 A>G Pathogenic Missense variant, coding sequence variant
rs74315329 G>A Pathogenic, likely-pathogenic Stop gained, coding sequence variant
rs74315330 G>A Pathogenic Missense variant, coding sequence variant
rs74315331 A>C,T Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(1)
miRTarBase ID miRNA Experiments Reference
MIRT005837 hsa-miR-204-5p Microarray 21282569
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(58)
GO ID Ontology Definition Evidence Reference
GO:0001649 Process Osteoblast differentiation IBA
GO:0001649 Process Osteoblast differentiation IDA 23629661
GO:0001649 Process Osteoblast differentiation IEA
GO:0001953 Process Negative regulation of cell-matrix adhesion IDA 17984096
GO:0001968 Function Fibronectin binding IPI 11773026
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
601652 7610 ENSG00000034971
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q99972
Protein 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)]
Protein function Secreted glycoprotein regulating the activation of different signaling pathways in adjacent cells to control different processes including cell adhesion, cell-matrix adhesion, cytoskeleton organization and cell migration. Promotes substrate adhe
PDB 4WXQ , 4WXS , 4WXU , 6OU0 , 6OU1 , 6OU2 , 6OU3 , 6PKD , 6PKE , 6PKF , 7SIB , 7SIJ , 7SJT , 7SJU , 7SJV , 7SJW , 7SKD , 7SKE , 7SKF , 7SKG , 7T8D , 8FRR
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02191 OLF 248 → 501 Olfactomedin-like domain Family
Tissue specificity TISSUE SPECIFICITY: Detected in aqueous humor (PubMed:12697062). Detected in the eye (at protein level) (PubMed:11431441). Widely expressed. Highly expressed in various types of muscle, ciliary body, papillary sphincter, skeletal muscle, heart, and bone m
Sequence 
MRFFCARCCSFGPEMPAVQLLLLACLVWDVGARTAQLRKANDQSGRCQYTFSVASPNESS
CPEQSQAMSVIHNLQRDSSTQRLDLEATKARLSSLESLLHQLTLDQAARPQETQEGLQRE
LGTLRRERDQLETQTRELETAYSNLLRDKSVLEEEKKRLRQENENLARRLESSSQEVARL
RRGQCPQTRDTARAVPPGSREVSTWNLDTLAFQELKSELTEVPASRILKESPSGYLRSGE
GDTGCGELVWVGEPLTLRTAETITGKYGVWMRDPKPTYPYTQETTWRIDTVGTDVRQVFE
YDLISQFMQGYPSKVHILPRPLESTGAVVYSGSLYFQGAESRTVIRYELNTETVKAEKEI
PGAGYHGQFPYSWGGYTDIDLAVDEAGLWVIYSTDEAKGAIVLSKLNPENLELEQTWETN
IRKQSVANAFIICGTLYTVSSYTSADATVNFAYDTGTGISKTLTIPFKNRYKYSSMIDYN
PLEKKLFAWDNLNMVTYDIKLSKM
Sequence length 504
Interactions View interactions
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Glaucoma glaucoma of childhood rs121909193, rs74315336, rs74315330, rs74315338, rs74315341, rs74315329, rs121909194, rs74315332, rs74315331, rs74315328, rs74315334 N/A
Open Angle Glaucoma glaucoma 1, open angle, a, Primary open angle glaucoma rs74315330, rs74315338, rs74315329, rs74315341, rs121909194, rs74315332, rs74315331, rs74315328, rs74315334, rs121909193, rs74315336 N/A
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Cardioembolic Stroke Cardioembolic stroke N/A N/A GWAS
Congenital glaucoma congenital glaucoma N/A N/A GenCC
Show/Hide Text Mining Associations (39)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
AA amyloidosis Associate 22197377, 24279319, 25027323, 38168102
Adenoma Associate 36220364
Blindness Associate 17663725, 17984096, 23028669
Corneal Dystrophies Hereditary Associate 18427622
Diabetes Mellitus Type 1 Associate 23566828
Drug Related Side Effects and Adverse Reactions Associate 25027323
Early Onset Glaucoma Associate 18427622, 18449353, 22197377, 36217948
Edema Associate 32945492
Exfoliation Syndrome Associate 12789137, 34081096
Eye Diseases Associate 21655360, 25027323, 31009450, 32945492, 36579626