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ALG12 (ALG12, alpha-1,6-mannosyltransferase)

Identity

Alias_namesasparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase)
asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae)
Alias_symbol (synonym)ECM39
Other aliasCDG1G
PP14673
hALG12
HGNC (Hugo) ALG12
LocusID (NCBI) 79087
Atlas_Id 60249
Location 22q13.33  [Link to chromosome band 22q13]
Location_base_pair Starts at 49903206 and ends at 49918458 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ALG12 (22q13.33) / ZBED4 (22q13.33)PIEZO2 (18p11.22) / ALG12 (22q13.33)SLAMF9 (1q23.2) / ALG12 (22q13.33)

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)ALG12   19358
Cards
Entrez_Gene (NCBI)ALG12  79087  ALG12, alpha-1,6-mannosyltransferase
AliasesCDG1G; ECM39; PP14673; hALG12
GeneCards (Weizmann)ALG12
Ensembl hg19 (Hinxton) [Gene_View]
Ensembl hg38 (Hinxton) [Gene_View]  chr22:49903206-49918458 [Contig_View]  ALG12 [Vega]
TCGA cBioPortalALG12
AceView (NCBI)ALG12
Genatlas (Paris)ALG12
WikiGenes79087
SOURCE (Princeton)ALG12
Genetics Home Reference (NIH)ALG12
Genomic and cartography
GoldenPath hg38 (UCSC)ALG12  -     chr22:49903206-49918458 -  22q13.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ALG12  -     22q13.33   [Description]    (hg19-Feb_2009)
EnsemblALG12 - 22q13.33 [CytoView hg19]  ALG12 - 22q13.33 [CytoView hg38]
Mapping of homologs : NCBIALG12 [Mapview hg19]  ALG12 [Mapview hg38]
OMIM607143   607144   
Gene and transcription
Genbank (Entrez)AF258571 AF318343 AJ290427 AJ303120 BC001729
RefSeq transcript (Entrez)NM_024105
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ALG12
Cluster EST : UnigeneHs.526711 [ NCBI ]
CGAP (NCI)Hs.526711
Gene ExpressionALG12 [ NCBI-GEO ]   ALG12 [ EBI - ARRAY_EXPRESS ]   ALG12 [ SEEK ]   ALG12 [ MEM ]
Gene Expression Viewer (FireBrowse)ALG12 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)79087
GTEX Portal (Tissue expression)ALG12
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BV10   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BV10  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BV10
Splice isoforms : SwissVarQ9BV10
Catalytic activity : Enzyme2.4.1.260 [ Enzyme-Expasy ]   2.4.1.2602.4.1.260 [ IntEnz-EBI ]   2.4.1.260 [ BRENDA ]   2.4.1.260 [ KEGG ]   
PhosPhoSitePlusQ9BV10
Domains : Interpro (EBI)GPI_mannosylTrfase   
Domain families : Pfam (Sanger)Glyco_transf_22 (PF03901)   
Domain families : Pfam (NCBI)pfam03901   
Conserved Domain (NCBI)ALG12
DMDM Disease mutations79087
Blocks (Seattle)ALG12
SuperfamilyQ9BV10
Peptide AtlasQ9BV10
HPRD06189
IPIIPI00012208   IPI00103656   IPI00947259   IPI00947408   
Protein Interaction databases
DIP (DOE-UCLA)Q9BV10
IntAct (EBI)Q9BV10
BioGRIDALG12
STRING (EMBL)ALG12
ZODIACALG12
Ontologies - Pathways
QuickGOQ9BV10
Ontology : AmiGOalpha-1,6-mannosyltransferase activity  mannosyltransferase activity  mannosyltransferase activity  endoplasmic reticulum  endoplasmic reticulum  endoplasmic reticulum membrane  protein folding  protein glycosylation  dolichol-linked oligosaccharide biosynthetic process  dolichol-linked oligosaccharide biosynthetic process  membrane  integral component of membrane  dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase activity  mannosylation  
Ontology : EGO-EBIalpha-1,6-mannosyltransferase activity  mannosyltransferase activity  mannosyltransferase activity  endoplasmic reticulum  endoplasmic reticulum  endoplasmic reticulum membrane  protein folding  protein glycosylation  dolichol-linked oligosaccharide biosynthetic process  dolichol-linked oligosaccharide biosynthetic process  membrane  integral component of membrane  dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase activity  mannosylation  
Pathways : KEGGN-Glycan biosynthesis   
NDEx NetworkALG12
Atlas of Cancer Signalling NetworkALG12
Wikipedia pathwaysALG12
Orthology - Evolution
OrthoDB79087
Phylogenetic Trees/Animal Genes : TreeFamALG12
HOVERGENQ9BV10
HOGENOMQ9BV10
Homologs : HomoloGeneALG12
Homology/Alignments : Family Browser (UCSC)ALG12
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerALG12 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ALG12
dbVarALG12
ClinVarALG12
1000_GenomesALG12 
Exome Variant ServerALG12
ExAC (Exome Aggregation Consortium)ALG12 (select the gene name)
Genetic variants : HAPMAP79087
Genomic Variants (DGV)ALG12 [DGVbeta]
DECIPHERALG12 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisALG12 
Mutations
ICGC Data PortalALG12 
TCGA Data PortalALG12 
Broad Tumor PortalALG12
OASIS PortalALG12 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICALG12  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDALG12
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)Mendelian genes
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch ALG12
DgiDB (Drug Gene Interaction Database)ALG12
DoCM (Curated mutations)ALG12 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ALG12 (select a term)
intoGenALG12
Cancer3DALG12(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607143    607144   
Orphanet11350   
MedgenALG12
Genetic Testing Registry ALG12
NextProtQ9BV10 [Medical]
TSGene79087
GENETestsALG12
Target ValidationALG12
Huge Navigator ALG12 [HugePedia]
snp3D : Map Gene to Disease79087
BioCentury BCIQALG12
ClinGenALG12
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD79087
Chemical/Pharm GKB GenePA134987771
Clinical trialALG12
Miscellaneous
canSAR (ICR)ALG12 (select the gene name)
Probes
Litterature
PubMed15 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineALG12
EVEXALG12
GoPubMedALG12
iHOPALG12
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 15:37:53 CEST 2017

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