Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7358
Gene name Gene Name - the full gene name approved by the HGNC.
UDP-glucose 6-dehydrogenase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
UGDH
Synonyms (NCBI Gene) Gene synonyms aliases
DEE84, EIEE84, GDH, UDP-GlcDH, UDPGDH, UGD
Disease Acronyms (UniProt) Disease acronyms from UniProt database
DEE84
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4p14
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene converts UDP-glucose to UDP-glucuronate and thereby participates in the biosynthesis of glycosaminoglycans such as hyaluronan, chondroitin sulfate, and heparan sulfate. These glycosylated compounds are common components of
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs113094436 G>A Likely-pathogenic Missense variant, coding sequence variant
rs200059198 G>A Pathogenic, likely-pathogenic Coding sequence variant, 5 prime UTR variant, stop gained
rs201894374 G>A Likely-pathogenic Coding sequence variant, missense variant
rs369608407 T>C Pathogenic, likely-pathogenic Coding sequence variant, intron variant, missense variant
rs749975104 G>A Pathogenic, likely-pathogenic Missense variant, intron variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT000914 hsa-miR-15a-5p Microarray 18362358
MIRT000913 hsa-miR-16-5p Microarray 18362358
MIRT016763 hsa-miR-335-5p Microarray 18185580
MIRT020547 hsa-miR-155-5p Proteomics 18668040
MIRT021343 hsa-miR-9-5p Microarray 17612493
Transcription factors
Transcription factor Regulation Reference
SP1 Activation 16002992
SP1 Unknown 12682078
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001702 Process Gastrulation with mouth forming second ISS
GO:0003979 Function UDP-glucose 6-dehydrogenase activity IDA 27966912
GO:0005634 Component Nucleus IBA 21873635
GO:0005654 Component Nucleoplasm IDA
GO:0005829 Component Cytosol IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
603370 12525 ENSG00000109814
Protein
UniProt ID O60701
Protein name UDP-glucose 6-dehydrogenase (UDP-Glc dehydrogenase) (UDP-GlcDH) (UDPGDH) (EC 1.1.1.22)
Protein function Catalyzes the formation of UDP-alpha-D-glucuronate, a constituent of complex glycosaminoglycans (PubMed:21502315, PubMed:21961565, PubMed:22123821, PubMed:23106432, PubMed:25478983, PubMed:27966912, PubMed:30420606, PubMed:30457329). Required fo
PDB 2Q3E , 2QG4 , 3ITK , 3KHU , 3PRJ , 3PTZ , 3TDK , 3TF5 , 4EDF , 4RJT , 5TJH , 5VR8 , 5W4X , 6C4J , 6C4K , 6C58 , 6C5A , 6C5Z , 9DGZ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03721 UDPG_MGDP_dh_N 5 195 UDP-glucose/GDP-mannose dehydrogenase family, NAD binding domain Domain
PF00984 UDPG_MGDP_dh 214 309 UDP-glucose/GDP-mannose dehydrogenase family, central domain Domain
PF03720 UDPG_MGDP_dh_C 332 447 UDP-glucose/GDP-mannose dehydrogenase family, UDP binding domain Domain
Tissue specificity TISSUE SPECIFICITY: Detected in heart, placenta, liver, pancreas, spleen, thymus, prostate, ovary, small intestine and colon (PubMed:9737970). Widely expressed (PubMed:9737970). {ECO:0000269|PubMed:9737970, ECO:0000269|PubMed:9850599}.
Sequence
Sequence length 494
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Pentose and glucuronate interconversions
Ascorbate and aldarate metabolism
Amino sugar and nucleotide sugar metabolism
Biosynthesis of various nucleotide sugars
Metabolic pathways
Biosynthesis of cofactors
Biosynthesis of nucleotide sugars
  Formation of the active cofactor, UDP-glucuronate
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Epileptic encephalopathy Epileptic encephalopathy rs587776508, rs121918334, rs121918317, rs121918321, rs74315390, rs28939684, rs74315391, rs74315392, rs118192244, rs121918622, rs121918623, rs121917953, rs121917955, rs121918624, rs121918625
View all (860 more)
32001716
Unknown
Disease term Disease name Evidence References Source
Cholelithiasis Cholelithiasis GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 30787260
Adenocarcinoma of Lung Stimulate 37880368
Breast Neoplasms Associate 18930055, 33572239, 34942055
Developmental Disabilities Associate 40245099
Epilepsy Associate 40245099
Esophageal Neoplasms Associate 30972633
Graves Disease Associate 21576248, 32968816
Hypoxia Inhibit 12682078
Hypoxia Brain Associate 12682078
Infantile Epileptic Dyskinetic Encephalopathy Associate 37593999