Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8818
Gene name Gene Name - the full gene name approved by the HGNC.
Dolichyl-phosphate mannosyltransferase subunit 2, regulatory
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DPM2
Synonyms (NCBI Gene) Gene synonyms aliases
CDG1U
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CDG1U
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9q34.11
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 TAS 16280320
GO:0005515 Function Protein binding IPI 10835346
GO:0005789 Component Endoplasmic reticulum membrane TAS 16280320
GO:0006506 Process GPI anchor biosynthetic process IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
603564 3006 ENSG00000136908
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Antithrombin deficiency Antithrombin III Deficiency rs121909546, rs121909547, rs121909548, rs121909549, rs121909550, rs121909551, rs2227624, rs121909552, rs121909554, rs121909555, rs121909557, rs121909558, rs28929469, rs1572088837, rs121909560
View all (41 more)
Congenital disorder of glycosylation CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu rs121434387, rs1264383808, rs766244312, rs1555497568, rs1555496968, rs267606740, rs1568296260, rs1562937199, rs28939378, rs121908583, rs1568757730, rs28936415, rs587776874, rs387906831, rs151173406
View all (80 more)
23109149, 19901254, 26453362
Congenital muscular dystrophy with intellectual disability and epilepsy Congenital muscular dystrophy with intellectual disability and severe epilepsy rs397514503, rs797044467, rs1349389319
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Unknown
Disease term Disease name Evidence References Source
Congenital contracture Congenital contracture ClinVar
Trigonocephaly Trigonocephaly ClinVar
Associations from Text Mining
Disease Name Relationship Type References
Congenital Disorders of Glycosylation Associate 33129689
Death Associate 33129689
Developmental Disabilities Associate 33129689
Early Onset Glaucoma Associate 33129689
Glycogen Storage Disease XIV Associate 33129689
Heart Defects Congenital Associate 33129689
Immunoglobulin G4 Related Disease Associate 36609529
Intellectual Disability Associate 33129689
Muscle Hypertonia Associate 33129689
Muscle Hypotonia Associate 33129689