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MGAT5 (mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase)

Identity

Alias_symbol (synonym)GNT-V
Other aliasGNT-VA
HGNC (Hugo) MGAT5
LocusID (NCBI) 4249
Atlas_Id 41349
Location 2q21.2  [Link to chromosome band 2q21]
Location_base_pair Starts at 135011830 and ends at 135212192 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ACVR1C (2q24.1) / MGAT5 (2q21.2)CENPH (5q13.2) / MGAT5 (2q21.2)CYTIP (2q24.1) / MGAT5 (2q21.2)
GPR39 (2q21.2) / MGAT5 (2q21.2)MGAT5 (2q21.2) / GPR39 (2q21.2)MGAT5 (2q21.2) / HNMT (2q22.1)
MGAT5 (2q21.2) / KIF1B (1p36.22)MGAT5 (2q21.2) / MGAT5 (2q21.2)MGAT5 (2q21.2) / MRPL14 (6p21.1)
MGAT5 (2q21.2) / RUNX1T1 (8q21.3)TUG1 (22q12.2) / MGAT5 (2q21.2)CYTIP 2q24.1 / MGAT5 2q21.2

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 Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  Lung: Translocations in Adenocarcinoma
Lung: Translocations in Squamous Cell Carcinoma


External links

Nomenclature
HGNC (Hugo)MGAT5   7049
Cards
Entrez_Gene (NCBI)MGAT5  4249  mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase
AliasesGNT-V; GNT-VA
GeneCards (Weizmann)MGAT5
Ensembl hg19 (Hinxton)ENSG00000152127 [Gene_View]  chr2:135011830-135212192 [Contig_View]  MGAT5 [Vega]
Ensembl hg38 (Hinxton)ENSG00000152127 [Gene_View]  chr2:135011830-135212192 [Contig_View]  MGAT5 [Vega]
ICGC DataPortalENSG00000152127
TCGA cBioPortalMGAT5
AceView (NCBI)MGAT5
Genatlas (Paris)MGAT5
WikiGenes4249
SOURCE (Princeton)MGAT5
Genetics Home Reference (NIH)MGAT5
Genomic and cartography
GoldenPath hg19 (UCSC)MGAT5  -     chr2:135011830-135212192 +  2q21.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)MGAT5  -     2q21.2   [Description]    (hg38-Dec_2013)
EnsemblMGAT5 - 2q21.2 [CytoView hg19]  MGAT5 - 2q21.2 [CytoView hg38]
Mapping of homologs : NCBIMGAT5 [Mapview hg19]  MGAT5 [Mapview hg38]
OMIM601774   
Gene and transcription
Genbank (Entrez)AF055029 AF113921 AK056461 AK125207 BC041917
RefSeq transcript (Entrez)NM_002410
RefSeq genomic (Entrez)NC_000002 NC_018913 NG_030324 NT_005403 NW_004929304
Consensus coding sequences : CCDS (NCBI)MGAT5
Cluster EST : UnigeneHs.4988 [ NCBI ]
CGAP (NCI)Hs.4988
Alternative Splicing GalleryENSG00000152127
Gene ExpressionMGAT5 [ NCBI-GEO ]   MGAT5 [ EBI - ARRAY_EXPRESS ]   MGAT5 [ SEEK ]   MGAT5 [ MEM ]
Gene Expression Viewer (FireBrowse)MGAT5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4249
GTEX Portal (Tissue expression)MGAT5
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ09328   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ09328  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ09328
Splice isoforms : SwissVarQ09328
Catalytic activity : Enzyme2.4.1.155 [ Enzyme-Expasy ]   2.4.1.1552.4.1.155 [ IntEnz-EBI ]   2.4.1.155 [ BRENDA ]   2.4.1.155 [ KEGG ]   
PhosPhoSitePlusQ09328
Domains : Interpro (EBI)DUF4525    GlyclTrfase_18   
Domain families : Pfam (Sanger)DUF4525 (PF15027)   
Domain families : Pfam (NCBI)pfam15027   
Conserved Domain (NCBI)MGAT5
DMDM Disease mutations4249
Blocks (Seattle)MGAT5
SuperfamilyQ09328
Human Protein AtlasENSG00000152127
Peptide AtlasQ09328
HPRD03467
IPIIPI00020407   
Protein Interaction databases
DIP (DOE-UCLA)Q09328
IntAct (EBI)Q09328
FunCoupENSG00000152127
BioGRIDMGAT5
STRING (EMBL)MGAT5
ZODIACMGAT5
Ontologies - Pathways
QuickGOQ09328
Ontology : AmiGOGolgi membrane  protein N-linked glycosylation  integral component of membrane  alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity  alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity  extracellular exosome  
Ontology : EGO-EBIGolgi membrane  protein N-linked glycosylation  integral component of membrane  alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity  alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity  extracellular exosome  
Pathways : KEGGN-Glycan biosynthesis   
NDEx NetworkMGAT5
Atlas of Cancer Signalling NetworkMGAT5
Wikipedia pathwaysMGAT5
Orthology - Evolution
OrthoDB4249
GeneTree (enSembl)ENSG00000152127
Phylogenetic Trees/Animal Genes : TreeFamMGAT5
HOVERGENQ09328
HOGENOMQ09328
Homologs : HomoloGeneMGAT5
Homology/Alignments : Family Browser (UCSC)MGAT5
Gene fusions - Rearrangements
Fusion : MitelmanACVR1C/MGAT5 [2q24.1/2q21.2]  [t(2;2)(q21;q24)]  
Fusion : MitelmanCYTIP/MGAT5 [2q24.1/2q21.2]  [t(2;2)(q21;q24)]  
Fusion : MitelmanGPR39/MGAT5 [2q21.2/2q21.2]  [t(2;2)(q21;q21)]  
Fusion : MitelmanMGAT5/GPR39 [2q21.2/2q21.2]  [t(2;2)(q21;q21)]  
Fusion : MitelmanMGAT5/HNMT [2q21.2/2q22.1]  [t(2;2)(q21;q22)]  
Fusion: TCGACYTIP 2q24.1 MGAT5 2q21.2 LUSC
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMGAT5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MGAT5
dbVarMGAT5
ClinVarMGAT5
1000_GenomesMGAT5 
Exome Variant ServerMGAT5
ExAC (Exome Aggregation Consortium)MGAT5 (select the gene name)
Genetic variants : HAPMAP4249
Genomic Variants (DGV)MGAT5 [DGVbeta]
DECIPHER (Syndromes)2:135011830-135212192  ENSG00000152127
CONAN: Copy Number AnalysisMGAT5 
Mutations
ICGC Data PortalMGAT5 
TCGA Data PortalMGAT5 
Broad Tumor PortalMGAT5
OASIS PortalMGAT5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMGAT5  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMGAT5
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 MGAT5
DgiDB (Drug Gene Interaction Database)MGAT5
DoCM (Curated mutations)MGAT5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MGAT5 (select a term)
intoGenMGAT5
Cancer3DMGAT5(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601774   
Orphanet
MedgenMGAT5
Genetic Testing Registry MGAT5
NextProtQ09328 [Medical]
TSGene4249
GENETestsMGAT5
Huge Navigator MGAT5 [HugePedia]
snp3D : Map Gene to Disease4249
BioCentury BCIQMGAT5
ClinGenMGAT5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4249
Chemical/Pharm GKB GenePA30784
Clinical trialMGAT5
Miscellaneous
canSAR (ICR)MGAT5 (select the gene name)
Probes
Litterature
PubMed60 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMGAT5
EVEXMGAT5
GoPubMedMGAT5
iHOPMGAT5
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 13:15:06 CET 2017

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