Atlas of Genetics and Cytogenetics in Oncology and Haematology


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MYOC (myocilin)

Identity

Other namesGLC1A
GPOA
JOAG
JOAG1
TIGR
HGNC (Hugo) MYOC
LocusID (NCBI) 4653
Atlas_Id 46782
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
AliasesGLC1A; GPOA; JOAG; JOAG1; 
TIGR
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
TCGA 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)NC_000001 NC_018912 NG_008859 NT_004487 NW_004929293
Consensus coding sequences : CCDS (NCBI)MYOC
Cluster EST : UnigeneHs.436037 [ NCBI ]
CGAP (NCI)Hs.436037
Alternative Splicing GalleryENSG00000034971
Gene ExpressionMYOC [ NCBI-GEO ]   MYOC [ EBI - ARRAY_EXPRESS ]   MYOC [ SEEK ]   MYOC [ MEM ]
Gene Expression Viewer (FireBrowse)MYOC [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4653
GTEX Portal (Tissue expression)MYOC
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ99972 (Uniprot)
NextProtQ99972  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ99972
Splice isoforms : SwissVarQ99972 (Swissvar)
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)  
DMDM Disease mutations4653
Blocks (Seattle)MYOC
PDB (SRS)4WXQ    4WXS    4WXU   
PDB (PDBSum)4WXQ    4WXS    4WXU   
PDB (IMB)4WXQ    4WXS    4WXU   
PDB (RSDB)4WXQ    4WXS    4WXU   
Structural Biology KnowledgeBase4WXQ    4WXS    4WXU   
SCOP (Structural Classification of Proteins)4WXQ    4WXS    4WXU   
CATH (Classification of proteins structures)4WXQ    4WXS    4WXU   
SuperfamilyQ99972
Human Protein AtlasENSG00000034971
Peptide AtlasQ99972
HPRD03387
IPIIPI00019190   IPI00844385   IPI01015107   IPI01009208   
Protein Interaction databases
DIP (DOE-UCLA)Q99972
IntAct (EBI)Q99972
FunCoupENSG00000034971
BioGRIDMYOC
STRING (EMBL)MYOC
ZODIACMYOC
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  receptor tyrosine kinase binding  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  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  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  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  receptor tyrosine kinase binding  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  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  extracellular exosome  positive regulation of substrate adhesion-dependent cell spreading  
NDEx Network
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
Polymorphisms : SNP, variants
NCBI Variation ViewerMYOC [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MYOC
dbVarMYOC
ClinVarMYOC
1000_GenomesMYOC 
Exome Variant ServerMYOC
ExAC (Exome Aggregation Consortium)MYOC (select the gene name)
Genetic variants : HAPMAP4653
Genomic Variants (DGV)MYOC [DGVbeta]
Mutations
ICGC Data PortalMYOC 
TCGA Data PortalMYOC 
Broad Tumor PortalMYOC
OASIS PortalMYOC [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMYOC 
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
BioMutasearch MYOC
DgiDB (Drug Gene Interaction Database)MYOC
DoCM (Curated mutations)MYOC (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MYOC (select a term)
intoGenMYOC
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)1:171604557-171621773  ENSG00000034971
CONAN: Copy Number AnalysisMYOC 
Mutations and Diseases : HGMDMYOC
OMIM137750    601652   
MedgenMYOC
Genetic Testing Registry MYOC
NextProtQ99972 [Medical]
TSGene4653
GENETestsMYOC
Huge Navigator MYOC [HugePedia]
snp3D : Map Gene to Disease4653
BioCentury BCIQMYOC
ClinGenMYOC
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4653
Chemical/Pharm GKB GenePA31415
Clinical trialMYOC
Miscellaneous
canSAR (ICR)MYOC (select the gene name)
Probes
Litterature
PubMed228 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMYOC
EVEXMYOC
GoPubMedMYOC
iHOPMYOC
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat May 28 11:12:59 CEST 2016

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