Gene Gene information from NCBI Gene database.
Entrez ID 8818
Gene name Dolichyl-phosphate mannosyltransferase subunit 2, regulatory
Gene symbol DPM2
Synonyms (NCBI Gene)
CDG1U
Chromosome 9
Chromosome location 9q34.11
Summary 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.
2
SNP ID Visualize variation Clinical significance Consequence
rs397514503 T>C Pathogenic Intron variant, non coding transcript variant, missense variant, coding sequence variant
rs797044467 C>G,T Pathogenic Intron variant, splice acceptor variant
miRNA miRNA information provided by mirtarbase database.
393
miRTarBase ID miRNA Experiments Reference
MIRT477982 hsa-miR-634 PAR-CLIP 23592263
MIRT477981 hsa-miR-5586-3p PAR-CLIP 23592263
MIRT477980 hsa-miR-4779 PAR-CLIP 23592263
MIRT477979 hsa-miR-6783-5p PAR-CLIP 23592263
MIRT477978 hsa-miR-6815-5p PAR-CLIP 23592263
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:0000506 Component Glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex IDA 10944123, 16162815
GO:0000506 Component Glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex IPI 16162815
GO:0000506 Component Glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex TAS 16280320
GO:0005515 Function Protein binding IPI 10835346, 10944123, 16162815
GO:0005783 Component Endoplasmic reticulum IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603564 3006 ENSG00000136908
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O94777
Protein name Dolichol phosphate-mannose biosynthesis regulatory protein (Dolichol-phosphate mannose synthase subunit 2) (DPM synthase subunit 2)
Protein function Regulates the biosynthesis of dolichol phosphate-mannose (PubMed:10835346). Regulatory subunit of the dolichol-phosphate mannose (DPM) synthase complex; essential for the ER localization and stable expression of DPM1 (PubMed:10835346). Part of t
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07297 DPM2 5 81 Dolichol phosphate-mannose biosynthesis regulatory protein (DPM2) Family
Sequence
Sequence length 84
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  N-Glycan biosynthesis
Glycosylphosphatidylinositol (GPI)-anchor biosynthesis
Metabolic pathways
  Synthesis of dolichyl-phosphate mannose
Synthesis of glycosylphosphatidylinositol (GPI)
Defective DPM1 causes DPM1-CDG (CDG-1e)
Defective DPM3 causes DPM3-CDG (CDG-1o)
Defective DPM2 causes DPM2-CDG (CDG-1u)
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
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
Congenital muscular dystrophy with intellectual disability and severe epilepsy Likely pathogenic; Pathogenic rs549450795, rs1185338798, rs2539553454, rs2539556000, rs2539558352, rs397514503, rs797044467, rs1349389319 RCV001375849
RCV001375850
RCV003150595
RCV003536548
RCV003649640
View all (3 more)
★★★★★
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
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU CTD, HPO
CTD, HPO
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DPM2-related disorder Likely benign; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GLAUCOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PRIMARY ANGLE CLOSURE GLAUCOMA 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
Angle Closure Glaucoma Angle Closure Glaucoma BEFREE 31377279
★☆☆☆☆
Found in Text Mining only
Antithrombin III Deficiency Antithrombin Deficiency HPO_DG
★☆☆☆☆
Found in Text Mining only
Byzanthine arch palate High palate HPO_DG
★☆☆☆☆
Found in Text Mining only
Cerebellar Hypoplasia Cerebellar Hypoplasia HPO_DG
★☆☆☆☆
Found in Text Mining only
Congenital contracture Congenital contracture HPO_DG
★☆☆☆☆
Found in Text Mining only
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu Congenital disorder of glycosylation GENOMICS_ENGLAND_DG 19901254, 23109149, 26453362
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu Congenital disorder of glycosylation UNIPROT_DG 23109149
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu Congenital disorder of glycosylation ORPHANET_DG 23109149
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu Congenital disorder of glycosylation CLINVAR_DG
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu Congenital disorder of glycosylation CTD_human_DG
★★☆☆☆
Found in Text Mining + Unknown/Other Associations