DPM3 (dolichyl-phosphate mannosyltransferase subunit 3, regulatory)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
54344
Gene name Gene Name - the full gene name approved by the HGNC.
Dolichyl-phosphate mannosyltransferase subunit 3, regulatory
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DPM3
Synonyms (NCBI Gene) Gene synonyms aliases
CDG1O, MDDGB15, MDDGC15
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q22
Summary Summary of gene provided in NCBI Entrez Gene.
Dolichol-phosphate mannose (Dol-P-Man) serves as a donor of mannosyl residues on the lumenal side of the endoplasmic reticulum (ER). Lack of Dol-P-Man results in defective surface expression of GPI-anchored proteins. Dol-P-Man is synthesized from GDP-mann
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(3)
SNP ID Visualize variation Clinical significance Consequence
rs121908155 A>G,T Pathogenic Stop gained, missense variant, coding sequence variant
rs745692004 G>A,C Likely-pathogenic Coding sequence variant, missense variant
rs1057518905 A>T Likely-pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(19)
miRTarBase ID miRNA Experiments Reference
MIRT040333 hsa-miR-615-3p CLASH 23622248
MIRT944130 hsa-miR-149 CLIP-seq
MIRT944131 hsa-miR-3153 CLIP-seq
MIRT944132 hsa-miR-3170 CLIP-seq
MIRT944133 hsa-miR-3202 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(18)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 10835346, 10944123, 23856421, 32296183
GO:0005783 Component Endoplasmic reticulum IDA 10835346
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane IBA
GO:0005789 Component Endoplasmic reticulum membrane IDA 10835346
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
605951 3007 ENSG00000179085
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9P2X0
Protein name Dolichol-phosphate mannosyltransferase subunit 3 (Dolichol-phosphate mannose synthase subunit 3) (DPM synthase subunit 3) (Dolichyl-phosphate beta-D-mannosyltransferase subunit 3) (Mannose-P-dolichol synthase subunit 3) (MPD synthase subunit 3) (Prostin-1
Protein function Stabilizer subunit of the dolichol-phosphate mannose (DPM) synthase complex; tethers catalytic subunit DPM1 to the endoplasmic reticulum.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08285 DPM3 1 → 91 Dolichol-phosphate mannosyltransferase subunit 3 (DPM3) Family
Sequence
Sequence length 92
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  N-Glycan biosynthesis
Metabolic pathways 		  Synthesis of dolichyl-phosphate mannose
Defective DPM1 causes DPM1-CDG (CDG-1e)
Defective DPM3 causes DPM3-CDG (CDG-1o)
Defective DPM2 causes DPM2-CDG (CDG-1u)
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (1)
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
Prostate cancer Prostate cancer N/A N/A GWAS
Show/Hide Text Mining Associations (10)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Cardiomyopathies Associate 35932216
Congenital Disorder Of Glycosylation Type Im Associate 19576565
Congenital Disorders of Glycosylation Associate 19576565
Intellectual Disability Associate 35932216
Leukoencephalopathies Associate 35932216
Muscle Neoplasms Associate 35932216
Muscular Diseases Associate 35932216
Muscular Dystrophies Associate 19576565
Seizures Associate 35932216
Walker Warburg Syndrome Associate 19576565, 30060766, 35932216