AutismKB 2.0

Annotation Details for MYOC


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Basic Information Top
Gene Symbol:MYOC ( GLC1A,GPOA,JOAG,JOAG1,TIGR,myocilin )
Gene Full Name: myocilin, trabecular meshwork inducible glucocorticoid response
Band: 1q24.3
Quick LinksEntrez ID:4653; OMIM: 601652; Uniprot ID:MYOC_HUMAN; ENSEMBL ID: ENSG00000034971; HGNC ID: 7610
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005578IEA-proteinaceous extracellular matrix-
GO:0005615IDA-extracellular space17317787
GO:0005741IDA-mitochondrial outer membrane17516541
GO:0005743IDA-mitochondrial inner membrane17516541
GO:0005758IDA-mitochondrial intermembrane space17516541
GO:0005783ISS-endoplasmic reticulum-
GO:0005791IEA-rough endoplasmic reticulum-
GO:0005794IDA-Golgi apparatus11053284
GO:0005929IEA-cilium-
GO:0031012IDA-extracellular matrix11773026
GO:0031410IDA-cytoplasmic vesicle11431441
GO:0033268ISS-node of Ranvier-
GO:0070062IDA-extracellular exosome21362503
GO ID Evidence Qualifier GO_term References
GO:0001968IPI-fibronectin binding11773026
GO:0005109IPI-frizzled binding19188438
GO:0005515IPI-protein binding11773029
GO:0030971IEA-receptor tyrosine kinase binding-
GO:0032027IPI-myosin light chain binding11773029
GO:0046872IEA-metal ion binding-
GO ID Evidence Qualifier GO_term References
GO:0001649IDA-osteoblast differentiation23629661
GO:0001953IDA-negative regulation of cell-matrix adhesion17984096
GO:0014068IDA-positive regulation of phosphatidylinositol 3-kinase signaling21656515
GO:0014734ISS-skeletal muscle hypertrophy-
GO:0022011ISS-myelination in peripheral nervous system-
GO:0030335IDA-positive regulation of cell migration21656515
GO:0031175IMP-neuron projection development19959812
GO:0035024IDA-negative regulation of Rho protein signal transduction17984096
GO:0038031IMP-non-canonical Wnt signaling pathway via JNK cascade19188438
GO:0038133ISS-ERBB2-ERBB3 signaling pathway-
GO:0043408IDA-regulation of MAPK cascade23629661
GO:0045162ISS-clustering of voltage-gated sodium channels-
GO:0051496IDA-positive regulation of stress fiber assembly19188438
GO:0051497IDA-negative regulation of stress fiber assembly17984096
GO:0051894IDA-positive regulation of focal adhesion assembly18855004
GO:0051897IDA-positive regulation of protein kinase B signaling21656515
GO:0051901IDA-positive regulation of mitochondrial depolarization17516541
GO:0060348ISS-bone development-
GO:1900026IDA-positive regulation of substrate adhesion-dependent cell spreading18855004
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
MYOCFBN110849411923248 Reconstituted Complex
MYOCFBN111073611923248 Reconstituted Complex
MYOCFN111073611773026 Reconstituted Complex
MYOCFN110862111773026 Reconstituted Complex
OLFM3MYOC12560112019210 Far Western; Reconstituted Complex
OLFM3MYOC11073612019210 Far Western; Reconstituted Complex
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1202864
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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