Atlas of Genetics and Cytogenetics in Oncology and Haematology


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MYOC (myocilin, trabecular meshwork inducible glucocorticoid response)

Identity

Other namesGLC1A
GPOA
JOAG
JOAG1
TIGR
myocilin
HGNC (Hugo) MYOC
LocusID (NCBI) 4653
Location 1q24.3
Location_base_pair Starts at 171604557 and ends at 171621773 bp from pter ( according to hg19-Feb_2009)
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  4653  myocilin, trabecular meshwork inducible glucocorticoid response
GeneCards (Weizmann)MYOC
Ensembl hg19 (Hinxton)ENSG00000034971 [Gene_View]  chr1:171604557-171621773 [Contig_View]  MYOC [Vega]
Ensembl hg38 (Hinxton)ENSG00000034971 [Gene_View]  chr1:171604557-171621773 [Contig_View]  MYOC [Vega]
ICGC DataPortalENSG00000034971
cBioPortalMYOC
AceView (NCBI)MYOC
Genatlas (Paris)MYOC
WikiGenes4653
SOURCE (Princeton)MYOC
Genomic and cartography
GoldenPath hg19 (UCSC)MYOC  -     chr1:171604557-171621773 -  1q24.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)MYOC  -     1q24.3   [Description]    (hg38-Dec_2013)
EnsemblMYOC - 1q24.3 [CytoView hg19]  MYOC - 1q24.3 [CytoView hg38]
Mapping of homologs : NCBIMYOC [Mapview hg19]  MYOC [Mapview hg38]
OMIM137750   601652   
Gene and transcription
Genbank (Entrez)AF001620 AK097310 AK300924 AK300943 AK301297
RefSeq transcript (Entrez)NM_000261
RefSeq genomic (Entrez)AC_000133 NC_000001 NC_018912 NG_008859 NT_004487 NW_001838533 NW_004929293
Consensus coding sequences : CCDS (NCBI)MYOC
Cluster EST : UnigeneHs.436037 [ NCBI ]
CGAP (NCI)Hs.436037
Alternative Splicing : Fast-db (Paris)GSHG0002736
Alternative Splicing GalleryENSG00000034971
Gene ExpressionMYOC [ NCBI-GEO ]     MYOC [ SEEK ]   MYOC [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ99972 (Uniprot)
NextProtQ99972  [Medical]
With graphics : InterProQ99972
Splice isoforms : SwissVarQ99972 (Swissvar)
Domaine pattern : Prosite (Expaxy)OLF (PS51132)   
Domains : Interpro (EBI)Olfac-like   
Related proteins : CluSTrQ99972
Domain families : Pfam (Sanger)OLF (PF02191)   
Domain families : Pfam (NCBI)pfam02191   
Domain families : Smart (EMBL)OLF (SM00284)  
DMDM Disease mutations4653
Blocks (Seattle)Q99972
Human Protein AtlasENSG00000034971
Peptide AtlasQ99972
HPRD03387
IPIIPI00019190   IPI00844385   IPI01015107   IPI01009208   
Protein Interaction databases
DIP (DOE-UCLA)Q99972
IntAct (EBI)Q99972
FunCoupENSG00000034971
BioGRIDMYOC
IntegromeDBMYOC
STRING (EMBL)MYOC
Ontologies - Pathways
QuickGOQ99972
Ontology : AmiGOosteoblast differentiation  negative regulation of cell-matrix adhesion  fibronectin binding  frizzled binding  protein binding  proteinaceous extracellular matrix  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  cytoplasmic membrane-bounded vesicle  myelination in peripheral nervous system  positive regulation of cell migration  extracellular matrix  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  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  extracellular vesicular 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  proteinaceous extracellular matrix  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  cytoplasmic membrane-bounded vesicle  myelination in peripheral nervous system  positive regulation of cell migration  extracellular matrix  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  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  extracellular vesicular exosome  positive regulation of substrate adhesion-dependent cell spreading  
Protein Interaction DatabaseMYOC
DoCM (Curated mutations)MYOC
Wikipedia pathwaysMYOC
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerMYOC [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MYOC
dbVarMYOC
ClinVarMYOC
1000_GenomesMYOC 
Exome Variant ServerMYOC
SNP (GeneSNP Utah)MYOC
SNP : HGBaseMYOC
Genetic variants : HAPMAPMYOC
Genomic VariantsMYOC  MYOC [DGVbeta]
Mutations
ICGC Data PortalENSG00000034971 
Somatic Mutations in Cancer : COSMICMYOC 
CONAN: Copy Number AnalysisMYOC 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Eye diseases - LOVD
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)1:171604557-171621773
Mutations and Diseases : HGMDMYOC
OMIM137750    601652   
MedgenMYOC
NextProtQ99972 [Medical]
GENETestsMYOC
Disease Genetic AssociationMYOC
Huge Navigator MYOC [HugePedia]  MYOC [HugeCancerGEM]
snp3D : Map Gene to Disease4653
DGIdb (Drug Gene Interaction db)MYOC
General knowledge
Homologs : HomoloGeneMYOC
Homology/Alignments : Family Browser (UCSC)MYOC
Phylogenetic Trees/Animal Genes : TreeFamMYOC
Chemical/Protein Interactions : CTD4653
Chemical/Pharm GKB GenePA31415
Clinical trialMYOC
Cancer Resource (Charite)ENSG00000034971
Other databases
Probes
Litterature
PubMed208 Pubmed reference(s) in Entrez
CoreMineMYOC
GoPubMedMYOC
iHOPMYOC
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sun Dec 21 00:22:40 CET 2014

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