Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2762
Gene name Gene Name - the full gene name approved by the HGNC.
GDP-mannose 4,6-dehydratase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GMDS
Synonyms (NCBI Gene) Gene synonyms aliases
GMD, SDR3E1
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p25.3
Summary Summary of gene provided in NCBI Entrez Gene.
GDP-mannose 4,6-dehydratase (GMD; EC 4.2.1.47) catalyzes the conversion of GDP-mannose to GDP-4-keto-6-deoxymannose, the first step in the synthesis of GDP-fucose from GDP-mannose, using NADP+ as a cofactor. The second and third steps of the pathway are c
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT712759 hsa-miR-3150a-5p HITS-CLIP 19536157
MIRT712758 hsa-miR-3150b-5p HITS-CLIP 19536157
MIRT712756 hsa-miR-6812-3p HITS-CLIP 19536157
MIRT712757 hsa-miR-1307-3p HITS-CLIP 19536157
MIRT712755 hsa-miR-744-5p HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956, 32296183
GO:0005737 Component Cytoplasm IC 9525924
GO:0005829 Component Cytosol IEA
GO:0005829 Component Cytosol TAS
GO:0007219 Process Notch signaling pathway ISS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602884 4369 ENSG00000112699
Protein
UniProt ID O60547
Protein name GDP-mannose 4,6 dehydratase (EC 4.2.1.47) (GDP-D-mannose dehydratase) (GMD)
Protein function Catalyzes the conversion of GDP-D-mannose to GDP-4-dehydro-6-deoxy-D-mannose.
PDB 1T2A , 5IN4 , 5IN5 , 6GPJ , 6GPK , 6GPL , 6Q94
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16363 GDP_Man_Dehyd 27 358 GDP-mannose 4,6 dehydratase Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in pancreas and small intestine. Expressed in thymus, protstate, colon, heart, placenta, liver and kidney. Expressed at low levels in spleen, testis, brain and lung. {ECO:0000269|PubMed:9525924}.
Sequence
Sequence length 372
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Fructose and mannose metabolism
Biosynthesis of various nucleotide sugars
Metabolic pathways
Biosynthesis of nucleotide sugars
  GDP-fucose biosynthesis
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Coronary artery disease Coronary artery disease N/A N/A GWAS
Diabetes Type 2 diabetes N/A N/A GWAS
Glioblastoma Glioblastoma N/A N/A GWAS
Gout Gout N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Calcinosis Cutis Associate 23922970
Carcinoma Hepatocellular Associate 31423008
Colorectal Neoplasms Associate 23922970
Congenital disorder of glycosylation type 2C Associate 9662431
Diabetic Nephropathies Inhibit 37916327
Glaucoma Open Angle Associate 25173105
Intestinal Neoplasms Associate 30072579
Neoplasm Metastasis Associate 31423008
Neoplasms Associate 23922970
Pseudomyxoma Peritonei Associate 30072579