Atlas of Genetics and Cytogenetics in Oncology and Haematology


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MYOC (myocilin)

Identity

Alias (NCBI)GLC1A
GPOA
JOAG
JOAG1
TIGR
HGNC (Hugo) MYOC
HGNC Alias symbTIGR
JOAG1
HGNC Alias nametrabecular meshwork inducible glucocorticoid response protein
 juvenile-onset open-angle glaucoma 1
HGNC Previous nameGLC1A
HGNC Previous namemyocilin, trabecular meshwork inducible glucocorticoid response
LocusID (NCBI) 4653
Atlas_Id 46782
Location 1q24.3  [Link to chromosome band 1q24]
Location_base_pair Starts at 171635417 and ends at 171652688 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



External links

 

Nomenclature
HGNC (Hugo)MYOC   7610
Cards
Entrez_Gene (NCBI)MYOC    myocilin
AliasesGLC1A; GPOA; JOAG; JOAG1; 
TIGR
GeneCards (Weizmann)MYOC
Ensembl hg19 (Hinxton)ENSG00000034971 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000034971 [Gene_View]  ENSG00000034971 [Sequence]  chr1:171635417-171652688 [Contig_View]  MYOC [Vega]
ICGC DataPortalENSG00000034971
TCGA cBioPortalMYOC
AceView (NCBI)MYOC
Genatlas (Paris)MYOC
SOURCE (Princeton)MYOC
Genetics Home Reference (NIH)MYOC
Genomic and cartography
GoldenPath hg38 (UCSC)MYOC  -     chr1:171635417-171652688 -  1q24.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MYOC  -     1q24.3   [Description]    (hg19-Feb_2009)
GoldenPathMYOC - 1q24.3 [CytoView hg19]  MYOC - 1q24.3 [CytoView hg38]
ImmunoBaseENSG00000034971
Genome Data Viewer NCBIMYOC [Mapview hg19]  
OMIM137750   601652   
Gene and transcription
Genbank (Entrez)AF001620 AK097310 AK300924 AK300943 AK301297
RefSeq transcript (Entrez)NM_000261
Consensus coding sequences : CCDS (NCBI)MYOC
Gene ExpressionMYOC [ NCBI-GEO ]   MYOC [ EBI - ARRAY_EXPRESS ]   MYOC [ SEEK ]   MYOC [ MEM ]
Gene Expression Viewer (FireBrowse)MYOC [ Firebrowse - Broad ]
GenevisibleExpression of MYOC in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4653
GTEX Portal (Tissue expression)MYOC
Human Protein AtlasENSG00000034971-MYOC [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ99972   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ99972  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ99972
PhosPhoSitePlusQ99972
Domaine pattern : Prosite (Expaxy)OLF (PS51132)   
Domains : Interpro (EBI)Myocilin    Olfac-like_dom   
Domain families : Pfam (Sanger)OLF (PF02191)   
Domain families : Pfam (NCBI)pfam02191   
Domain families : Smart (EMBL)OLF (SM00284)  
Conserved Domain (NCBI)MYOC
PDB (RSDB)4WXQ    4WXS    4WXU    6OU0    6OU1    6OU2    6OU3    6PKD    6PKE    6PKF   
PDB Europe4WXQ    4WXS    4WXU    6OU0    6OU1    6OU2    6OU3    6PKD    6PKE    6PKF   
PDB (PDBSum)4WXQ    4WXS    4WXU    6OU0    6OU1    6OU2    6OU3    6PKD    6PKE    6PKF   
PDB (IMB)4WXQ    4WXS    4WXU    6OU0    6OU1    6OU2    6OU3    6PKD    6PKE    6PKF   
Structural Biology KnowledgeBase4WXQ    4WXS    4WXU    6OU0    6OU1    6OU2    6OU3    6PKD    6PKE    6PKF   
SCOP (Structural Classification of Proteins)4WXQ    4WXS    4WXU    6OU0    6OU1    6OU2    6OU3    6PKD    6PKE    6PKF   
CATH (Classification of proteins structures)4WXQ    4WXS    4WXU    6OU0    6OU1    6OU2    6OU3    6PKD    6PKE    6PKF   
SuperfamilyQ99972
AlphaFold pdb e-kbQ99972   
Human Protein Atlas [tissue]ENSG00000034971-MYOC [tissue]
HPRD03387
Protein Interaction databases
DIP (DOE-UCLA)Q99972
IntAct (EBI)Q99972
BioGRIDMYOC
STRING (EMBL)MYOC
ZODIACMYOC
Ontologies - Pathways
QuickGOQ99972
Ontology : AmiGOosteoblast differentiation  negative regulation of cell-matrix adhesion  fibronectin binding  frizzled binding  protein binding  extracellular space  mitochondrial outer membrane  mitochondrial inner membrane  mitochondrial intermembrane space  endoplasmic reticulum  rough endoplasmic reticulum  Golgi apparatus  cilium  positive regulation of phosphatidylinositol 3-kinase signaling  skeletal muscle hypertrophy  myelination in peripheral nervous system  positive regulation of cell migration  receptor tyrosine kinase binding  neuron projection development  cytoplasmic vesicle  myosin light chain binding  node of Ranvier  negative regulation of Rho protein signal transduction  non-canonical Wnt signaling pathway via JNK cascade  ERBB2-ERBB3 signaling pathway  regulation of MAPK cascade  clustering of voltage-gated sodium channels  metal ion binding  positive regulation of stress fiber assembly  negative regulation of stress fiber assembly  positive regulation of focal adhesion assembly  positive regulation of protein kinase B signaling  positive regulation of mitochondrial depolarization  bone development  collagen-containing extracellular matrix  extracellular exosome  positive regulation of substrate adhesion-dependent cell spreading  
Ontology : EGO-EBIosteoblast differentiation  negative regulation of cell-matrix adhesion  fibronectin binding  frizzled binding  protein binding  extracellular space  mitochondrial outer membrane  mitochondrial inner membrane  mitochondrial intermembrane space  endoplasmic reticulum  rough endoplasmic reticulum  Golgi apparatus  cilium  positive regulation of phosphatidylinositol 3-kinase signaling  skeletal muscle hypertrophy  myelination in peripheral nervous system  positive regulation of cell migration  receptor tyrosine kinase binding  neuron projection development  cytoplasmic vesicle  myosin light chain binding  node of Ranvier  negative regulation of Rho protein signal transduction  non-canonical Wnt signaling pathway via JNK cascade  ERBB2-ERBB3 signaling pathway  regulation of MAPK cascade  clustering of voltage-gated sodium channels  metal ion binding  positive regulation of stress fiber assembly  negative regulation of stress fiber assembly  positive regulation of focal adhesion assembly  positive regulation of protein kinase B signaling  positive regulation of mitochondrial depolarization  bone development  collagen-containing extracellular matrix  extracellular exosome  positive regulation of substrate adhesion-dependent cell spreading  
NDEx NetworkMYOC
Atlas of Cancer Signalling NetworkMYOC
Wikipedia pathwaysMYOC
Orthology - Evolution
OrthoDB4653
GeneTree (enSembl)ENSG00000034971
Phylogenetic Trees/Animal Genes : TreeFamMYOC
Homologs : HomoloGeneMYOC
Homology/Alignments : Family Browser (UCSC)MYOC
Gene fusions - Rearrangements
Fusion : QuiverMYOC
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMYOC [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MYOC
dbVarMYOC
ClinVarMYOC
MonarchMYOC
1000_GenomesMYOC 
Exome Variant ServerMYOC
GNOMAD BrowserENSG00000034971
Varsome BrowserMYOC
ACMGMYOC variants
VarityQ99972
Genomic Variants (DGV)MYOC [DGVbeta]
DECIPHERMYOC [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMYOC 
Mutations
ICGC Data PortalMYOC 
TCGA Data PortalMYOC 
Broad Tumor PortalMYOC
OASIS PortalMYOC [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMYOC  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DMYOC
Mutations and Diseases : HGMDMYOC
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaMYOC
DgiDB (Drug Gene Interaction Database)MYOC
DoCM (Curated mutations)MYOC
CIViC (Clinical Interpretations of Variants in Cancer)MYOC
Cancer3DMYOC
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM137750    601652   
Orphanet13993    13994   
DisGeNETMYOC
MedgenMYOC
Genetic Testing Registry MYOC
NextProtQ99972 [Medical]
GENETestsMYOC
Target ValidationMYOC
Huge Navigator MYOC [HugePedia]
ClinGenMYOC
Clinical trials, drugs, therapy
MyCancerGenomeMYOC
Protein Interactions : CTDMYOC
Pharm GKB GenePA31415
PharosQ99972
Clinical trialMYOC
Miscellaneous
canSAR (ICR)MYOC
HarmonizomeMYOC
DataMed IndexMYOC
Probes
Litterature
PubMed262 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXMYOC
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Mon Oct 4 15:21:51 CEST 2021

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