Gene Gene information from NCBI Gene database.
Entrez ID 7358
Gene name UDP-glucose 6-dehydrogenase
Gene symbol UGDH
Synonyms (NCBI Gene)
DEE84EIEE84GDHUDP-GlcDHUDPGDHUGD
Chromosome 4
Chromosome location 4p14
Summary 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.
23
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.
749
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 factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
SP1 Activation 16002992
SP1 Unknown 12682078
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22
GO ID Ontology Definition Evidence Reference
GO:0001702 Process Gastrulation with mouth forming second IEA
GO:0001702 Process Gastrulation with mouth forming second ISS
GO:0003824 Function Catalytic activity IEA
GO:0003979 Function UDP-glucose 6-dehydrogenase activity IDA 27966912
GO:0003979 Function UDP-glucose 6-dehydrogenase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603370 12525 ENSG00000109814
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
60
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Developmental and epileptic encephalopathy, 84 Likely pathogenic; Pathogenic rs775162839, rs113094436, rs1578264574, rs1578274054, rs769243823, rs200059198, rs749975104 RCV001004657
RCV003152743
RCV001004656
RCV001004654
RCV001004653
RCV001004655
RCV001004651
Epileptic encephalopathy Likely pathogenic; Pathogenic rs775162839, rs779324355, rs1053767552, rs201894374, rs770456604, rs113094436, rs1578264574, rs1260191836, rs1578265048, rs1578265068, rs1578269200, rs1186496501, rs1578269761, rs756467468, rs1381665298
View all (7 more)
RCV000723274
RCV000999472
RCV000999473
RCV000999474
RCV000999475
RCV000999476
RCV000999477
RCV000999478
RCV000999479
RCV000999480
RCV000999481
RCV000999482
RCV000999483
RCV000999484
RCV000999485
RCV000999486
RCV000999487
RCV000999488
RCV000999489
RCV000999490
RCV000999491
RCV000999492
UGDH-related disorder Pathogenic rs200059198 RCV004758134
West syndrome Likely pathogenic; Pathogenic rs749975104 RCV003490002
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs151116497 RCV005870982
Adrenocortical carcinoma, hereditary Benign rs151116497 RCV005870984
Cholangiocarcinoma Benign rs151116497 RCV005870990
Colorectal cancer Benign rs151116497 RCV005870987
Associations from Text MiningDisease associations identified through Pubtator
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