dolichyl-phosphate mannosyltransferase subunit 2, regulatory

Summary
Gene Symbol
  • DPM2
Aliases
  • DPM synthase complex subunit
  • MGC111193
  • MGC21559
Organism
Homo sapiens (human)
NCBI Gene
8818
GGDB ID
HGNC
3006
mRNA
map
  • 9q34.13
Protein
OMIM
KEGG Gene ID
hsa:8818
PubChem
8818
Alliance of Genome Resources
Annotation
Keyword
  • Congenital disorder of glycosylation
  • Congenital muscular dystrophy
  • Direct protein sequencing
  • Disease variant
  • Dystroglycanopathy
  • Endoplasmic reticulum
  • Reference proteome
  • Transmembrane helix
Proteins
Displaying 1 entry
UniProt Protein Name
O94777
  • Dolichol-phosphate mannose synthase subunit 2
Gene Ontology (GO)
GO Hierarchy
OrthoDB (Group)
Group level
Eukaryota
Group Name
Dolichol phosphate-mannose biosynthesis regulatory protein
Functional Category
  • E: Amino acid transport and metabolism
  • P: Inorganic ion transport and metabolism
  • T: Signal transduction mechanisms
Displaying 1 entry
Gene Ontology
dolichol metabolic process
Human Protein Atlas
ENSG00000136908

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

GlycoGene Database (GGDB)
GGDB ID
gg203
Gene Symbol
  • DPM2
Orthologous Gene
Displaying all 2 entries
Species Protein mRNA
Rattus norvegicus NP_062125 NM_019252
Mus musculus NP_034203 NM_010073
KEGG BRITE Database
Orthology
K09658
Name
dolichol phosphate-mannose biosynthesis regulatory protein
References
Disease
The Human Phenotype Ontology
Displaying entries 41 - 50 of 51 in total
HPO ID HPO Term
HP:0003577 Congenital onset
HP:0003642 Type I transferrin isoform profile
HP:0005484 Secondary microcephaly
HP:0005781 Contractures of the large joints
HP:0006829 Severe muscular hypotonia
HP:0007179 Absent smooth pursuit
HP:0010851 EEG with burst suppression
HP:0011169 Generalized clonic seizure
HP:0011968 Feeding difficulties
HP:0012762 Cerebral white matter atrophy
Displaying all 2 entries
Disease ID Disease Name
OMIM:615042
  • congenital muscular dystrophy with intellectual disability and severe epilepsy
ORPHA:329178
  • congenital muscular dystrophy with intellectual disability and severe epilepsy
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP003790
Gene Name
dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024