Atlas of Genetics and Cytogenetics in Oncology and Haematology


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MTMR12 (myotubularin related protein 12)

Identity

Alias_namesPIP3AP
phosphatidylinositol-3-phosphate associated protein
Alias_symbol (synonym)3-PAP
FLJ20476
KIAA1682
3PAP
Other alias
HGNC (Hugo) MTMR12
LocusID (NCBI) 54545
Atlas_Id 47392
Location 5p13.3  [Link to chromosome band 5p13]
Location_base_pair Starts at 32227007 and ends at 32313008 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
MTMR12 (5p13.3) / C5orf42 (5p13.2)MTMR12 (5p13.3) / TERT (5p15.33)MTMR12 (5p13.3) / ZFR (5p13.3)
MTMR12 5p13.3 / C5orf42 5p13.2MTMR12 5p13.3 / TERT 5p15.33MTMR12 5p13.3 / ZFR 5p13.3

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)MTMR12   18191
Cards
Entrez_Gene (NCBI)MTMR12  54545  myotubularin related protein 12
Aliases3-PAP; PIP3AP
GeneCards (Weizmann)MTMR12
Ensembl hg19 (Hinxton)ENSG00000150712 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000150712 [Gene_View]  chr5:32227007-32313008 [Contig_View]  MTMR12 [Vega]
ICGC DataPortalENSG00000150712
TCGA cBioPortalMTMR12
AceView (NCBI)MTMR12
Genatlas (Paris)MTMR12
WikiGenes54545
SOURCE (Princeton)MTMR12
Genetics Home Reference (NIH)MTMR12
Genomic and cartography
GoldenPath hg38 (UCSC)MTMR12  -     chr5:32227007-32313008 -  5p13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MTMR12  -     5p13.3   [Description]    (hg19-Feb_2009)
EnsemblMTMR12 - 5p13.3 [CytoView hg19]  MTMR12 - 5p13.3 [CytoView hg38]
Mapping of homologs : NCBIMTMR12 [Mapview hg19]  MTMR12 [Mapview hg38]
OMIM606501   
Gene and transcription
Genbank (Entrez)AB051469 AF085901 AK000483 AK000967 AL833231
RefSeq transcript (Entrez)NM_001040446 NM_001294343 NM_001294344 NM_019061
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MTMR12
Cluster EST : UnigeneHs.481836 [ NCBI ]
CGAP (NCI)Hs.481836
Alternative Splicing GalleryENSG00000150712
Gene ExpressionMTMR12 [ NCBI-GEO ]   MTMR12 [ EBI - ARRAY_EXPRESS ]   MTMR12 [ SEEK ]   MTMR12 [ MEM ]
Gene Expression Viewer (FireBrowse)MTMR12 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)54545
GTEX Portal (Tissue expression)MTMR12
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9C0I1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9C0I1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9C0I1
Splice isoforms : SwissVarQ9C0I1
PhosPhoSitePlusQ9C0I1
Domaine pattern : Prosite (Expaxy)PPASE_MYOTUBULARIN (PS51339)   
Domains : Interpro (EBI)MTMR12    MTMR12-like_C    Myotubularin-like_Pase_dom    Myotubularin_fam    PH_dom-like    Prot-tyrosine_phosphatase-like   
Domain families : Pfam (Sanger)3-PAP (PF12578)    Myotub-related (PF06602)   
Domain families : Pfam (NCBI)pfam12578    pfam06602   
Conserved Domain (NCBI)MTMR12
DMDM Disease mutations54545
Blocks (Seattle)MTMR12
SuperfamilyQ9C0I1
Human Protein AtlasENSG00000150712
Peptide AtlasQ9C0I1
HPRD05933
IPIIPI00061280   IPI00448020   IPI00301793   IPI00966594   IPI00968164   
Protein Interaction databases
DIP (DOE-UCLA)Q9C0I1
IntAct (EBI)Q9C0I1
FunCoupENSG00000150712
BioGRIDMTMR12
STRING (EMBL)MTMR12
ZODIACMTMR12
Ontologies - Pathways
QuickGOQ9C0I1
Ontology : AmiGOprotein binding  cytoplasm  phosphatase regulator activity  regulation of catalytic activity  toxin transport  
Ontology : EGO-EBIprotein binding  cytoplasm  phosphatase regulator activity  regulation of catalytic activity  toxin transport  
NDEx NetworkMTMR12
Atlas of Cancer Signalling NetworkMTMR12
Wikipedia pathwaysMTMR12
Orthology - Evolution
OrthoDB54545
GeneTree (enSembl)ENSG00000150712
Phylogenetic Trees/Animal Genes : TreeFamMTMR12
HOVERGENQ9C0I1
HOGENOMQ9C0I1
Homologs : HomoloGeneMTMR12
Homology/Alignments : Family Browser (UCSC)MTMR12
Gene fusions - Rearrangements
Fusion : MitelmanMTMR12/C5orf42 [5p13.3/5p13.2]  
Fusion : MitelmanMTMR12/TERT [5p13.3/5p15.33]  [t(5;5)(p13;p15)]  
Fusion : MitelmanMTMR12/ZFR [5p13.3/5p13.3]  [t(5;5)(p13;p13)]  
Fusion: TCGAMTMR12 5p13.3 C5orf42 5p13.2 LUSC
Fusion: TCGAMTMR12 5p13.3 TERT 5p15.33 THCA
Fusion: TCGAMTMR12 5p13.3 ZFR 5p13.3 LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMTMR12 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MTMR12
dbVarMTMR12
ClinVarMTMR12
1000_GenomesMTMR12 
Exome Variant ServerMTMR12
ExAC (Exome Aggregation Consortium)MTMR12 (select the gene name)
Genetic variants : HAPMAP54545
Genomic Variants (DGV)MTMR12 [DGVbeta]
DECIPHERMTMR12 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMTMR12 
Mutations
ICGC Data PortalMTMR12 
TCGA Data PortalMTMR12 
Broad Tumor PortalMTMR12
OASIS PortalMTMR12 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMTMR12  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMTMR12
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 MTMR12
DgiDB (Drug Gene Interaction Database)MTMR12
DoCM (Curated mutations)MTMR12 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MTMR12 (select a term)
intoGenMTMR12
Cancer3DMTMR12(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606501   
Orphanet
MedgenMTMR12
Genetic Testing Registry MTMR12
NextProtQ9C0I1 [Medical]
TSGene54545
GENETestsMTMR12
Target ValidationMTMR12
Huge Navigator MTMR12 [HugePedia]
snp3D : Map Gene to Disease54545
BioCentury BCIQMTMR12
ClinGenMTMR12
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD54545
Chemical/Pharm GKB GenePA128394670
Clinical trialMTMR12
Miscellaneous
canSAR (ICR)MTMR12 (select the gene name)
Probes
Litterature
PubMed12 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMTMR12
EVEXMTMR12
GoPubMedMTMR12
iHOPMTMR12
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 : Wed Jun 7 12:45:33 CEST 2017

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