dolichyl-phosphate mannosyltransferase subunit 2, regulatory

Summary
Gene Symbol
  • DPM2
Aliases
  • DPM synthase complex subunit
  • MGC111193
  • MGC21559
Organism
Homo sapiens (human)
External Links
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
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
Disease Ontology
Displaying entries 1 - 10 of 59 in total
DO ID Disease Name Source
DOID:0050557 congenital muscular dystrophy
DOID:0050570 congenital disorder of glycosylation type I
DOID:0060249 scoliosis
DOID:0060255 rippling muscle disease 2
DOID:0070247 autosomal dominant Emery-Dreifuss muscular dystrophy 2
DOID:0080092 myofibrillar myopathy 1
DOID:0080094 myofibrillar myopathy 3
DOID:0080571 congenital disorder of glycosylation Iu
DOID:0110273 autosomal dominant limb-girdle muscular dystrophy
DOID:0110274 autosomal recessive limb-girdle muscular dystrophy
The Human Phenotype Ontology
Displaying entries 1 - 10 of 51 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000218 High palate
HP:0000219 Thin upper lip vermilion
HP:0000243 Trigonocephaly
HP:0000253 Progressive microcephaly
HP:0000294 Low anterior hairline
HP:0000347 Micrognathia
HP:0000486 Strabismus
HP:0000601 Hypotelorism
HP:0000648 Optic atrophy
Displaying all 2 entries
Disease ID Disease Name
ORPHA:329178
  • congenital muscular dystrophy with intellectual disability and severe epilepsy
OMIM:615042
  • 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: August 19, 2024