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MYO18A (myosin XVIIIA)

Identity

Alias_symbol (synonym)KIAA0216
MysPDZ
Other aliasMYSPDZ
SPR210
HGNC (Hugo) MYO18A
LocusID (NCBI) 399687
Atlas_Id 42921
Location 17q11.2  [Link to chromosome band 17q11]
Location_base_pair Starts at 27400528 and ends at 27507407 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CADM1 (11q23.3) / MYO18A (17q11.2)KIAA0100 (17q11.2) / MYO18A (17q11.2)MYO18A (17q11.2) / ABCC1 (16p13.11)
MYO18A (17q11.2) / ALB (4q13.3)MYO18A (17q11.2) / EIF4G1 (3q27.1)MYO18A (17q11.2) / FGFR1 (8p11.23)
MYO18A (17q11.2) / KMT2A (11q23.3)MYO18A (17q11.2) / MSI2 (17q22)MYO18A (17q11.2) / MYO18A (17q11.2)
MYO18A (17q11.2) / NUFIP2 (17q11.2)MYO18A (17q11.2) / PDGFRB (5q32)MYO18A (17q11.2) / RNF135 (17q11.2)
MYO18A (17q11.2) / SERGEF (11p15.1)MYO18A (17q11.2) / ZBTB46 (20q13.33)PHF12 (17q11.2) / MYO18A (17q11.2)
RNF169 (11q13.4) / MYO18A (17q11.2)TOP3A (17p11.2) / MYO18A (17q11.2)MYO18A 17q11.2 / MSI2 17q22
MYO18A 17q11.2 / NUFIP2 17q11.2MYO18A 17q11.2 / RNF135 17q11.2MYO18A 17q11.2 / SERGEF 11p15.1
MYO18A 17q11.2 / ZBTB46 20q13.33TOP3A 17p11.2 / MYO18A 17q11.2

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

 


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 2 ]
  8p11 myeloproliferative syndrome (FGFR1)
t(8;17)(p11;q23) MYO18A/FGFR1


External links

Nomenclature
HGNC (Hugo)MYO18A   31104
Cards
Entrez_Gene (NCBI)MYO18A  399687  myosin XVIIIA
AliasesMYSPDZ; SPR210
GeneCards (Weizmann)MYO18A
Ensembl hg19 (Hinxton)ENSG00000196535 [Gene_View]  chr17:27400528-27507407 [Contig_View]  MYO18A [Vega]
Ensembl hg38 (Hinxton)ENSG00000196535 [Gene_View]  chr17:27400528-27507407 [Contig_View]  MYO18A [Vega]
ICGC DataPortalENSG00000196535
TCGA cBioPortalMYO18A
AceView (NCBI)MYO18A
Genatlas (Paris)MYO18A
WikiGenes399687
SOURCE (Princeton)MYO18A
Genetics Home Reference (NIH)MYO18A
Genomic and cartography
GoldenPath hg19 (UCSC)MYO18A  -     chr17:27400528-27507407 -  17q11.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)MYO18A  -     17q11.2   [Description]    (hg38-Dec_2013)
EnsemblMYO18A - 17q11.2 [CytoView hg19]  MYO18A - 17q11.2 [CytoView hg38]
Mapping of homologs : NCBIMYO18A [Mapview hg19]  MYO18A [Mapview hg38]
OMIM610067   
Gene and transcription
Genbank (Entrez)AB177858 AB177860 AF252258 AK122870 AK294180
RefSeq transcript (Entrez)NM_078471 NM_203318
RefSeq genomic (Entrez)NC_000017 NC_018928 NT_010783 NW_004929407
Consensus coding sequences : CCDS (NCBI)MYO18A
Cluster EST : UnigeneHs.462590 [ NCBI ]
CGAP (NCI)Hs.462590
Alternative Splicing GalleryENSG00000196535
Gene ExpressionMYO18A [ NCBI-GEO ]   MYO18A [ EBI - ARRAY_EXPRESS ]   MYO18A [ SEEK ]   MYO18A [ MEM ]
Gene Expression Viewer (FireBrowse)MYO18A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)399687
GTEX Portal (Tissue expression)MYO18A
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ92614   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ92614  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ92614
Splice isoforms : SwissVarQ92614
PhosPhoSitePlusQ92614
Domaine pattern : Prosite (Expaxy)IQ (PS50096)    MYOSIN_MOTOR (PS51456)    PDZ (PS50106)   
Domains : Interpro (EBI)IQ_motif_EF-hand-BS    MYO18A    Myosin-like_IQ_dom    Myosin_head_motor_dom    Myosin_tail    P-loop_NTPase    PDZ    RecA_monomer-monomer_interface   
Domain families : Pfam (Sanger)Myosin_head (PF00063)    Myosin_tail_1 (PF01576)    PDZ (PF00595)   
Domain families : Pfam (NCBI)pfam00063    pfam01576    pfam00595   
Domain families : Smart (EMBL)IQ (SM00015)  MYSc (SM00242)  PDZ (SM00228)  
Conserved Domain (NCBI)MYO18A
DMDM Disease mutations399687
Blocks (Seattle)MYO18A
SuperfamilyQ92614
Human Protein AtlasENSG00000196535
Peptide AtlasQ92614
HPRD10106
IPIIPI00760846   IPI00334410   IPI00760925   IPI00828082   IPI01014006   IPI00976783   IPI00827840   IPI01011327   IPI01013806   IPI01015996   IPI00983726   IPI00983025   IPI00976592   IPI00975904   
Protein Interaction databases
DIP (DOE-UCLA)Q92614
IntAct (EBI)Q92614
FunCoupENSG00000196535
BioGRIDMYO18A
STRING (EMBL)MYO18A
ZODIACMYO18A
Ontologies - Pathways
QuickGOQ92614
Ontology : AmiGOGolgi membrane  DNA binding  protein binding  ATP binding  nucleoplasm  endoplasmic reticulum-Golgi intermediate compartment  Golgi apparatus  trans-Golgi network  DNA metabolic process  Golgi organization  membrane  myosin complex  cell migration  ATPase activity  actomyosin structure organization  actomyosin  negative regulation of apoptotic process  ADP binding  poly(A) RNA binding  Golgi vesicle budding  positive regulation of protein secretion  actin filament binding  Golgi ribbon formation  asymmetric Golgi ribbon formation  
Ontology : EGO-EBIGolgi membrane  DNA binding  protein binding  ATP binding  nucleoplasm  endoplasmic reticulum-Golgi intermediate compartment  Golgi apparatus  trans-Golgi network  DNA metabolic process  Golgi organization  membrane  myosin complex  cell migration  ATPase activity  actomyosin structure organization  actomyosin  negative regulation of apoptotic process  ADP binding  poly(A) RNA binding  Golgi vesicle budding  positive regulation of protein secretion  actin filament binding  Golgi ribbon formation  asymmetric Golgi ribbon formation  
NDEx NetworkMYO18A
Atlas of Cancer Signalling NetworkMYO18A
Wikipedia pathwaysMYO18A
Orthology - Evolution
OrthoDB399687
GeneTree (enSembl)ENSG00000196535
Phylogenetic Trees/Animal Genes : TreeFamMYO18A
HOVERGENQ92614
HOGENOMQ92614
Homologs : HomoloGeneMYO18A
Homology/Alignments : Family Browser (UCSC)MYO18A
Gene fusions - Rearrangements
Fusion : MitelmanKIAA0100/MYO18A [17q11.2/17q11.2]  [dup(17)(q11q11)]  
Fusion : MitelmanMYO18A/FGFR1 [17q11.2/8p11.23]  [t(8;17)(p11;q11)]  
Fusion : MitelmanMYO18A/MSI2 [17q11.2/17q22]  [t(17;17)(q11;q22)]  
Fusion : MitelmanMYO18A/NUFIP2 [17q11.2/17q11.2]  [t(17;17)(q11;q11)]  
Fusion : MitelmanMYO18A/PDGFRB [17q11.2/5q32]  [t(5;17)(q32;q11)]  
Fusion : MitelmanMYO18A/RNF135 [17q11.2/17q11.2]  [t(17;17)(q11;q11)]  
Fusion : MitelmanMYO18A/SERGEF [17q11.2/11p15.1]  [t(11;17)(p15;q11)]  
Fusion : MitelmanMYO18A/ZBTB46 [17q11.2/20q13.33]  [t(17;20)(q11;q13)]  
Fusion : MitelmanTOP3A/MYO18A [17p11.2/17q11.2]  [t(17;17)(p11;q11)]  
Fusion: TCGAMYO18A 17q11.2 MSI2 17q22 BRCA
Fusion: TCGAMYO18A 17q11.2 NUFIP2 17q11.2 BRCA
Fusion: TCGAMYO18A 17q11.2 RNF135 17q11.2 BLCA
Fusion: TCGAMYO18A 17q11.2 SERGEF 11p15.1 BRCA
Fusion: TCGAMYO18A 17q11.2 ZBTB46 20q13.33 BRCA
Fusion: TCGATOP3A 17p11.2 MYO18A 17q11.2 LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMYO18A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MYO18A
dbVarMYO18A
ClinVarMYO18A
1000_GenomesMYO18A 
Exome Variant ServerMYO18A
ExAC (Exome Aggregation Consortium)MYO18A (select the gene name)
Genetic variants : HAPMAP399687
Genomic Variants (DGV)MYO18A [DGVbeta]
DECIPHER (Syndromes)17:27400528-27507407  ENSG00000196535
CONAN: Copy Number AnalysisMYO18A 
Mutations
ICGC Data PortalMYO18A 
TCGA Data PortalMYO18A 
Broad Tumor PortalMYO18A
OASIS PortalMYO18A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMYO18A  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMYO18A
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
BioMutasearch MYO18A
DgiDB (Drug Gene Interaction Database)MYO18A
DoCM (Curated mutations)MYO18A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MYO18A (select a term)
intoGenMYO18A
Cancer3DMYO18A(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610067   
Orphanet
MedgenMYO18A
Genetic Testing Registry MYO18A
NextProtQ92614 [Medical]
TSGene399687
GENETestsMYO18A
Huge Navigator MYO18A [HugePedia]
snp3D : Map Gene to Disease399687
BioCentury BCIQMYO18A
ClinGenMYO18A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD399687
Chemical/Pharm GKB GenePA134978348
Clinical trialMYO18A
Miscellaneous
canSAR (ICR)MYO18A (select the gene name)
Probes
Litterature
PubMed38 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMYO18A
EVEXMYO18A
GoPubMedMYO18A
iHOPMYO18A
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 : Tue Mar 14 13:17:52 CET 2017

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