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GMDS (GDP-mannose 4,6-dehydratase)

Identity

Alias_namesmember 1
Alias_symbol (synonym)GMD
SDR3E1
Other alias
HGNC (Hugo) GMDS
LocusID (NCBI) 2762
Atlas_Id 51014
Location 6p25.3  [Link to chromosome band 6p25]
Location_base_pair Starts at 1623800 and ends at 2245634 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ERGIC1 (5q35.1) / GMDS (6p25.3)GMDS (6p25.3) / BCAS3 (17q23.2)GMDS (6p25.3) / CCND3 (6p21.1)
GMDS (6p25.3) / DNAH8 (6p21.2)GMDS (6p25.3) / GMDS (6p25.3)GMDS (6p25.3) / METTL24 (6q21)
GMDS (6p25.3) / MRPS18B (6p21.33)GMDS (6p25.3) / PARVA (11p15.3)GMDS (6p25.3) / PDE8B (5q13.3)
GMDS (6p25.3) / TLE1 (9q21.32)GMDS (6p25.3) / ZNF843 (16p11.2)TCP1 (6q25.3) / GMDS (6p25.3)
VPS13B (8q22.2) / GMDS (6p25.3)GMDS PDE8BGMDS 6p25.3 / BCAS3 17q23.2
GMDS 6p25.3 C6orf186GMDS 6p25.3 / CCND3 6p21.1GMDS 6p25.3 / DNAH8 6p21.2
GMDS 6p25.3 / MRPS18B 6p21.33VPS13B 8q22.2 / GMDS 6p25.3

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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 7 ]
  t(6;6)(p21;p25) GMDS/CCND3
t(6;6)(p21;p25) GMDS/DNAH8
t(6;6)(p21;p25) GMDS/MRPS18B
t(6;6)(p25;q21) GMDS/METTL24
t(6;8)(p25;q22) VPS13B/GMDS
t(6;12)(p25;q24) GMDS/TMEM132B
t(6;17)(p25;q23) GMDS/BCAS3


External links

Nomenclature
HGNC (Hugo)GMDS   4369
Cards
Entrez_Gene (NCBI)GMDS  2762  GDP-mannose 4,6-dehydratase
AliasesGMD; SDR3E1
GeneCards (Weizmann)GMDS
Ensembl hg19 (Hinxton)ENSG00000112699 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000112699 [Gene_View]  ENSG00000112699 [Sequence]  chr6:1623800-2245634 [Contig_View]  GMDS [Vega]
ICGC DataPortalENSG00000112699
TCGA cBioPortalGMDS
AceView (NCBI)GMDS
Genatlas (Paris)GMDS
WikiGenes2762
SOURCE (Princeton)GMDS
Genetics Home Reference (NIH)GMDS
Genomic and cartography
GoldenPath hg38 (UCSC)GMDS  -     chr6:1623800-2245634 -  6p25.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GMDS  -     6p25.3   [Description]    (hg19-Feb_2009)
EnsemblGMDS - 6p25.3 [CytoView hg19]  GMDS - 6p25.3 [CytoView hg38]
Mapping of homologs : NCBIGMDS [Mapview hg19]  GMDS [Mapview hg38]
OMIM602884   
Gene and transcription
Genbank (Entrez)AF040260 AF042377 AI761361 AK057484 AK130651
RefSeq transcript (Entrez)NM_001253846 NM_001500
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GMDS
Cluster EST : UnigeneHs.660919 [ NCBI ]
CGAP (NCI)Hs.660919
Alternative Splicing GalleryENSG00000112699
Gene ExpressionGMDS [ NCBI-GEO ]   GMDS [ EBI - ARRAY_EXPRESS ]   GMDS [ SEEK ]   GMDS [ MEM ]
Gene Expression Viewer (FireBrowse)GMDS [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2762
GTEX Portal (Tissue expression)GMDS
Human Protein AtlasENSG00000112699-GMDS [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO60547   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO60547  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO60547
Splice isoforms : SwissVarO60547
Catalytic activity : Enzyme4.2.1.47 [ Enzyme-Expasy ]   4.2.1.474.2.1.47 [ IntEnz-EBI ]   4.2.1.47 [ BRENDA ]   4.2.1.47 [ KEGG ]   
PhosPhoSitePlusO60547
Domains : Interpro (EBI)GDP_Man_deHydtase    NAD(P)-bd_dom    NAD(P)-bd_dom_sf   
Domain families : Pfam (Sanger)GDP_Man_Dehyd (PF16363)   
Domain families : Pfam (NCBI)pfam16363   
Conserved Domain (NCBI)GMDS
DMDM Disease mutations2762
Blocks (Seattle)GMDS
PDB (SRS)1T2A    5IN4    5IN5   
PDB (PDBSum)1T2A    5IN4    5IN5   
PDB (IMB)1T2A    5IN4    5IN5   
PDB (RSDB)1T2A    5IN4    5IN5   
Structural Biology KnowledgeBase1T2A    5IN4    5IN5   
SCOP (Structural Classification of Proteins)1T2A    5IN4    5IN5   
CATH (Classification of proteins structures)1T2A    5IN4    5IN5   
SuperfamilyO60547
Human Protein Atlas [tissue]ENSG00000112699-GMDS [tissue]
Peptide AtlasO60547
HPRD11925
IPIIPI00030207   IPI00642048   
Protein Interaction databases
DIP (DOE-UCLA)O60547
IntAct (EBI)O60547
FunCoupENSG00000112699
BioGRIDGMDS
STRING (EMBL)GMDS
ZODIACGMDS
Ontologies - Pathways
QuickGOO60547
Ontology : AmiGOprotein binding  cytoplasm  cytoplasm  cytosol  Notch signaling pathway  GDP-mannose 4,6-dehydratase activity  GDP-mannose 4,6-dehydratase activity  GDP-mannose 4,6-dehydratase activity  GDP-mannose 4,6-dehydratase activity  GDP-mannose metabolic process  GDP-mannose metabolic process  GDP-mannose metabolic process  'de novo' GDP-L-fucose biosynthetic process  'de novo' GDP-L-fucose biosynthetic process  'de novo' GDP-L-fucose biosynthetic process  identical protein binding  extracellular exosome  NADP+ binding  
Ontology : EGO-EBIprotein binding  cytoplasm  cytoplasm  cytosol  Notch signaling pathway  GDP-mannose 4,6-dehydratase activity  GDP-mannose 4,6-dehydratase activity  GDP-mannose 4,6-dehydratase activity  GDP-mannose 4,6-dehydratase activity  GDP-mannose metabolic process  GDP-mannose metabolic process  GDP-mannose metabolic process  'de novo' GDP-L-fucose biosynthetic process  'de novo' GDP-L-fucose biosynthetic process  'de novo' GDP-L-fucose biosynthetic process  identical protein binding  extracellular exosome  NADP+ binding  
Pathways : KEGGFructose and mannose metabolism    Amino sugar and nucleotide sugar metabolism   
NDEx NetworkGMDS
Atlas of Cancer Signalling NetworkGMDS
Wikipedia pathwaysGMDS
Orthology - Evolution
OrthoDB2762
GeneTree (enSembl)ENSG00000112699
Phylogenetic Trees/Animal Genes : TreeFamGMDS
HOVERGENO60547
HOGENOMO60547
Homologs : HomoloGeneGMDS
Homology/Alignments : Family Browser (UCSC)GMDS
Gene fusions - Rearrangements
Fusion : MitelmanGMDS/BCAS3 [6p25.3/17q23.2]  
Fusion : MitelmanGMDS/CCND3 [6p25.3/6p21.1]  [t(6;6)(p21;p25)]  
Fusion : MitelmanGMDS/DNAH8 [6p25.3/6p21.2]  [t(6;6)(p21;p25)]  
Fusion : MitelmanGMDS/METTL24 [6p25.3/6q21]  [t(6;6)(p25;q21)]  
Fusion : MitelmanGMDS/MRPS18B [6p25.3/6p21.33]  [t(6;6)(p21;p25)]  
Fusion : MitelmanVPS13B/GMDS [8q22.2/6p25.3]  [t(6;8)(p25;q22)]  
Fusion PortalGMDS 6p25.3 BCAS3 17q23.2 PRAD
Fusion PortalGMDS 6p25.3 C6orf186 BRCA
Fusion PortalGMDS 6p25.3 CCND3 6p21.1 PRAD
Fusion PortalGMDS 6p25.3 DNAH8 6p21.2 BRCA
Fusion PortalGMDS 6p25.3 MRPS18B 6p21.33 BLCA
Fusion PortalVPS13B 8q22.2 GMDS 6p25.3 BRCA
Fusion : QuiverGMDS
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGMDS [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GMDS
dbVarGMDS
ClinVarGMDS
1000_GenomesGMDS 
Exome Variant ServerGMDS
ExAC (Exome Aggregation Consortium)ENSG00000112699
GNOMAD BrowserENSG00000112699
Varsome BrowserGMDS
Genetic variants : HAPMAP2762
Genomic Variants (DGV)GMDS [DGVbeta]
DECIPHERGMDS [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGMDS 
Mutations
ICGC Data PortalGMDS 
TCGA Data PortalGMDS 
Broad Tumor PortalGMDS
OASIS PortalGMDS [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGMDS  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDGMDS
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 GMDS
DgiDB (Drug Gene Interaction Database)GMDS
DoCM (Curated mutations)GMDS (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GMDS (select a term)
intoGenGMDS
Cancer3DGMDS(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602884   
Orphanet
DisGeNETGMDS
MedgenGMDS
Genetic Testing Registry GMDS
NextProtO60547 [Medical]
TSGene2762
GENETestsGMDS
Target ValidationGMDS
Huge Navigator GMDS [HugePedia]
snp3D : Map Gene to Disease2762
BioCentury BCIQGMDS
ClinGenGMDS
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2762
Chemical/Pharm GKB GenePA28754
Clinical trialGMDS
Miscellaneous
canSAR (ICR)GMDS (select the gene name)
Probes
Litterature
PubMed40 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGMDS
EVEXGMDS
GoPubMedGMDS
iHOPGMDS
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 6 11:08:44 CET 2018

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