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POMT2 (protein O-mannosyltransferase 2)

Identity

Alias_symbol (synonym)LGMD2N
Other aliasMDDGA2
MDDGB2
MDDGC2
HGNC (Hugo) POMT2
LocusID (NCBI) 29954
Atlas_Id 72073
Location 14q24.3  [Link to chromosome band 14q24]
Location_base_pair Starts at 77274956 and ends at 77320882 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
C16orf45 (16p13.11) / POMT2 (14q24.3)POMT2 (14q24.3) / POMT2 (14q24.3)ZNF787 (19q13.43) / POMT2 (14q24.3)

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)POMT2   19743
LRG (Locus Reference Genomic)LRG_844
Cards
Entrez_Gene (NCBI)POMT2  29954  protein O-mannosyltransferase 2
AliasesLGMD2N; MDDGA2; MDDGB2; MDDGC2
GeneCards (Weizmann)POMT2
Ensembl hg19 (Hinxton)ENSG00000009830 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000009830 [Gene_View]  chr14:77274956-77320882 [Contig_View]  POMT2 [Vega]
ICGC DataPortalENSG00000009830
TCGA cBioPortalPOMT2
AceView (NCBI)POMT2
Genatlas (Paris)POMT2
WikiGenes29954
SOURCE (Princeton)POMT2
Genetics Home Reference (NIH)POMT2
Genomic and cartography
GoldenPath hg38 (UCSC)POMT2  -     chr14:77274956-77320882 -  14q24.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)POMT2  -     14q24.3   [Description]    (hg19-Feb_2009)
EnsemblPOMT2 - 14q24.3 [CytoView hg19]  POMT2 - 14q24.3 [CytoView hg38]
Mapping of homologs : NCBIPOMT2 [Mapview hg19]  POMT2 [Mapview hg38]
OMIM236670   607439   613150   613156   613158   
Gene and transcription
Genbank (Entrez)AB209114 AF105020 AI927974 AK023804 AK025962
RefSeq transcript (Entrez)NM_013382
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)POMT2
Cluster EST : UnigeneHs.132989 [ NCBI ]
CGAP (NCI)Hs.132989
Alternative Splicing GalleryENSG00000009830
Gene ExpressionPOMT2 [ NCBI-GEO ]   POMT2 [ EBI - ARRAY_EXPRESS ]   POMT2 [ SEEK ]   POMT2 [ MEM ]
Gene Expression Viewer (FireBrowse)POMT2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)29954
GTEX Portal (Tissue expression)POMT2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UKY4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UKY4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UKY4
Splice isoforms : SwissVarQ9UKY4
Catalytic activity : Enzyme2.4.1.109 [ Enzyme-Expasy ]   2.4.1.1092.4.1.109 [ IntEnz-EBI ]   2.4.1.109 [ BRENDA ]   2.4.1.109 [ KEGG ]   
PhosPhoSitePlusQ9UKY4
Domaine pattern : Prosite (Expaxy)MIR (PS50919)   
Domains : Interpro (EBI)GlyclTrfase_39-like    Glyco_trans_39/83    MIR_motif    PMT_4TMC   
Domain families : Pfam (Sanger)MIR (PF02815)    PMT (PF02366)    PMT_4TMC (PF16192)   
Domain families : Pfam (NCBI)pfam02815    pfam02366    pfam16192   
Domain families : Smart (EMBL)MIR (SM00472)  
Conserved Domain (NCBI)POMT2
DMDM Disease mutations29954
Blocks (Seattle)POMT2
SuperfamilyQ9UKY4
Human Protein AtlasENSG00000009830
Peptide AtlasQ9UKY4
HPRD09592
IPIIPI00329648   IPI00329649   IPI01024973   IPI01025657   IPI01024716   IPI01025327   IPI01025476   
Protein Interaction databases
DIP (DOE-UCLA)Q9UKY4
IntAct (EBI)Q9UKY4
FunCoupENSG00000009830
BioGRIDPOMT2
STRING (EMBL)POMT2
ZODIACPOMT2
Ontologies - Pathways
QuickGOQ9UKY4
Ontology : AmiGOdolichyl-phosphate-mannose-protein mannosyltransferase activity  endoplasmic reticulum membrane  endoplasmic reticulum membrane  protein O-linked glycosylation  integral component of membrane  protein O-linked mannosylation  metal ion binding  ER-associated misfolded protein catabolic process  positive regulation of protein O-linked glycosylation  
Ontology : EGO-EBIdolichyl-phosphate-mannose-protein mannosyltransferase activity  endoplasmic reticulum membrane  endoplasmic reticulum membrane  protein O-linked glycosylation  integral component of membrane  protein O-linked mannosylation  metal ion binding  ER-associated misfolded protein catabolic process  positive regulation of protein O-linked glycosylation  
Pathways : KEGGOther types of O-glycan biosynthesis   
NDEx NetworkPOMT2
Atlas of Cancer Signalling NetworkPOMT2
Wikipedia pathwaysPOMT2
Orthology - Evolution
OrthoDB29954
GeneTree (enSembl)ENSG00000009830
Phylogenetic Trees/Animal Genes : TreeFamPOMT2
HOVERGENQ9UKY4
HOGENOMQ9UKY4
Homologs : HomoloGenePOMT2
Homology/Alignments : Family Browser (UCSC)POMT2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPOMT2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)POMT2
dbVarPOMT2
ClinVarPOMT2
1000_GenomesPOMT2 
Exome Variant ServerPOMT2
ExAC (Exome Aggregation Consortium)POMT2 (select the gene name)
Genetic variants : HAPMAP29954
Genomic Variants (DGV)POMT2 [DGVbeta]
DECIPHERPOMT2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPOMT2 
Mutations
ICGC Data PortalPOMT2 
TCGA Data PortalPOMT2 
Broad Tumor PortalPOMT2
OASIS PortalPOMT2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPOMT2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPOMT2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)Leiden Muscular Dystrophy pages
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch POMT2
DgiDB (Drug Gene Interaction Database)POMT2
DoCM (Curated mutations)POMT2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)POMT2 (select a term)
intoGenPOMT2
Cancer3DPOMT2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM236670    607439    613150    613156    613158   
Orphanet18522    22509    22510    8726    8725   
MedgenPOMT2
Genetic Testing Registry POMT2
NextProtQ9UKY4 [Medical]
TSGene29954
GENETestsPOMT2
Target ValidationPOMT2
Huge Navigator POMT2 [HugePedia]
snp3D : Map Gene to Disease29954
BioCentury BCIQPOMT2
ClinGenPOMT2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD29954
Chemical/Pharm GKB GenePA134980627
Clinical trialPOMT2
Miscellaneous
canSAR (ICR)POMT2 (select the gene name)
Probes
Litterature
PubMed28 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePOMT2
EVEXPOMT2
GoPubMedPOMT2
iHOPPOMT2
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 : Wed May 31 15:36:54 CEST 2017

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