Gene Gene information from NCBI Gene database.
Entrez ID 2762
Gene name GDP-mannose 4,6-dehydratase
Gene symbol GMDS
Synonyms (NCBI Gene)
GMDSDR3E1
Chromosome 6
Chromosome location 6p25.3
Summary 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.
116
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602884 4369 ENSG00000112699
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
24
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CARDIOVASCULAR DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CLEAR CELL RENAL CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 29843634
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism BEFREE 28795659
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 31423008 Associate
★☆☆☆☆
Found in Text Mining only
Cerebral Palsy Cerebral palsy BEFREE 26957041
★☆☆☆☆
Found in Text Mining only
Colon Carcinoma Colon Carcinoma BEFREE 19361506, 23922970
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 23922970, 27639802
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 23922970 Associate
★☆☆☆☆
Found in Text Mining only
Conductive hearing loss Hearing Loss BEFREE 26957041
★☆☆☆☆
Found in Text Mining only
Congenital disorder of glycosylation type 2C Congenital disorder of glycosylation Pubtator 9662431 Associate
★☆☆☆☆
Found in Text Mining only
Degenerative polyarthritis Arthritis BEFREE 29417694
★☆☆☆☆
Found in Text Mining only