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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
21
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Developmental and epileptic encephalopathy, 84 Likely pathogenic; Pathogenic rs775162839, rs113094436, rs1578264574, rs1578274054, rs769243823, rs200059198, rs749975104 RCV001004657
RCV003152743
RCV001004656
RCV001004654
RCV001004653
View all (2 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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
View all (17 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
UGDH-related disorder Pathogenic rs200059198 RCV004758134
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
West syndrome Likely pathogenic; Pathogenic rs749975104 RCV003490002
★★★★☆
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
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHOLELITHIASIS 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
beta Thalassemia beta Thalassemia BEFREE 6766754
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 28971451, 29770168
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 18930055, 33572239, 34942055 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 31243371
★☆☆☆☆
Found in Text Mining only
Central Diabetes Insipidus Diabetes Insipidus BEFREE 22576711, 28970055
★☆☆☆☆
Found in Text Mining only
Cyst Cyst BEFREE 16333079, 20214085
★☆☆☆☆
Found in Text Mining only
Developmental Disabilities Developmental disability Pubtator 40245099 Associate
★☆☆☆☆
Found in Text Mining only
Dwarfism Dwarfism BEFREE 28516749
★☆☆☆☆
Found in Text Mining only
Epilepsy Epilepsy Pubtator 40245099 Associate
★☆☆☆☆
Found in Text Mining only
Epileptic encephalopathy Epileptic encephalopathy CLINVAR_DG 32001716
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)