DPM2 - dolichyl-phosphate mannosyltransferase subunit 2, regulatory Gene

Also Known as CDG1U

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 8818

About DPM2

Cytogenetic location: 9q34.11 Genomic coordinates (GRCh38): 9:127,935,099-127,937,854 (from NCBI)

This gene has 5 transcripts (splice variants), 188 orthologues and is associated with 2 phenotypes. Ubiquitous expression in stomach (RPKM 13.1), thyroid (RPKM 12.2) and 25 other tissues.

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-mannose and dolichol-phosphate on the cytosolic side of the ER by the enzyme dolichyl-phosphate mannosyltransferase. The protein encoded by this gene is a hydrophobic protein that contains 2 predicted transmembrane domains and a putative ER localization signal near the C terminus. This protein associates with DPM1 in vivo and is required for the ER localization and stable expression of DPM1 and also enhances the binding of dolichol-phosphate to DPM1. [provided by RefSeq, Jul 2008]

DPM2 Products (3)

mRNA	Protein	Name
NM_001378436.1	NP_001365365.1	dolichol phosphate-mannose biosynthesis regulatory protein isoform 2
NM_001378437.1	NP_001365366.1	dolichol phosphate-mannose biosynthesis regulatory protein isoform 3
NM_003863.4	NP_003854.1	dolichol phosphate-mannose biosynthesis regulatory protein isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables enzyme activator activity	IDA IDA: Inferred from direct assay	10835346	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10835346	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in GPI anchor biosynthetic process	IDA IDA: Inferred from direct assay	10835346	GOA
involved in dolichol metabolic process	IDA IDA: Inferred from direct assay	10835346	GOA
involved in regulation of protein stability	IPI IPI: Inferred from physical interaction	10835346	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
part of dolichol-phosphate-mannose synthase complex	IDA IDA: Inferred from direct assay	10835346	GOA
part of dolichol-phosphate-mannose synthase complex	IPI IPI: Inferred from physical interaction	10835346	GOA
located in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	16162815	GOA
part of glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex	IDA IDA: Inferred from direct assay	10944123	GOA
part of glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex	IPI IPI: Inferred from physical interaction	16162815	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DPM2 Protein Structure

DPM2

0
84 a.a.

Protein Preferred Names	Protein Names
dolichol phosphate-mannose biosynthesis regulatory protein	DPM synthase complex subunit

DPM2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	DPM2	O94777	PIGQ	Homo sapiens	Q9BRB3	Pull Down	10944123
Intra	DPM2	O94777	PIGA	Homo sapiens	P37287	Pull Down	10944123
Intra	DPM2	O94777	PIGC	Homo sapiens	Q92535	Pull Down	10944123
Intra	DPM2	O94777	DPM3	Homo sapiens	Q9P2X0	Pull Down	10944123

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Congenital Disorder Of Glycosylation, Type Iu	CDG1U Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy Cdg-Iu Congenital Disorder Of Glycosylation Type Iu Cdg Iu Cdgiu Congenital Disorder Of Glycosylation 1u Dpm2-Cdg Cdg Syndrome Type Iu Cmd With Intellectual Disability And Severe Epilepsy Carbohydrate Deficient Glycoprotein Syndrome Type Iu Congenital Disorder Of Glycosylation Type 1u Congenital Disorder Of Glycosylation Iu Glycosylation, Congenital Disorder Of, Type Iu
Congenital Disorder Of Glycosylation, Type In	Congenital Disorder Of Glycosylation CDG1N Congenital Disorders Of Glycosylation Cdg In Cdgin Congenital Disorder Of Glycosylation 1n Carbohydrate-Deficient Glycoprotein Syndrome Cdg Rft1-Cdg Cdg-In Congenital Disorder Of Glycosylation Type In Carbohydrate Deficient Glycoprotein Syndrome Cdg Syndrome Congenital Disorder Of Glycosylation In Carbohydrate-Deficient Glycoprotein Syndromes Cdg Syndrome Type In Carbohydrate Deficient Glycoprotein Syndrome Type In Congenital Disorder Of Glycosylation Type 1n Man5glcnac2-Pp-Dol Flippase Deficiency Glycosylation, Congenital Disorder Of Glycosylation, Congenital Disorder Of, Type In
Progressive Myoclonus Epilepsy 10	Early-Onset Lafora Body Disease Epm10
Immunodeficiency 47	Congenital Disorder Of Glycosylation Type Ii CDG2E Congenital Disorder Of Glycosylation Type Iie IMD47 Cdg2s Cdg Iis Cdgiis Immunodeficiency And Hepatopathy With Or Without Neurologic Features Congenital Disorder Of Glycosylation, Type Ii CDG1I Congenital Disorder Of Glycosylation, Type Iie Cdg Iie Congenital Disorder Of Glycosylation Type 2e Congenital Disorder Of Glycosylation, Type Iis Cdg Ii Cdgii Cdgiie Carbohydrate Deficient Glycoprotein Syndrome Type Iie Cdg Syndrome Type Iie Congenital Disorder Of Glycosylation Ii Congenital Disorder Of Glycosylation 1i Cdg-Iie Alg2-Cdg Cdg-Ii Glycosylation, Congenital Disorder Of, Type Ii Cdgiide Congenital Disorder Of Glycosylation Type Iis Cog7-Cdg Cdg Syndrome Type Ii Carbohydrate Deficient Glycoprotein Syndrome Type Ii Congenital Disorder Of Glycosylation Type 1i Mannosyltransferase 2 Deficiency Congenital Disorder Of Glycosylation 2e Congenital Disorder Of Glycosylation 2s Congenital Disorders Of Glycosylation Type Ii Glycosylation, Congenital Disorder Of, Type Iie Immunodeficiency, Type 47 Congenital Disorder Of Glycosylation Type 2a
Primary Angle-Closure Glaucoma	Primary Angle Closure Glaucoma Angle Closure Glaucoma Acg - [Angle Closure Glaucoma] Angle-Closure Glaucoma Closed Angle Glaucoma Acute Glaucoma Prodromal Angle Closure Glaucoma
Methylmalonic Aciduria, Cblb Type	Methylmalonic Aciduria Cblb Type Methylmalonic Acidemia Cblb Type Methylmalonic Aciduria, Vitamin B12-Responsive, Due To Defect In Synthesis Of Adenosylcobalamin, Cblb Complementation Type Methylmalonic Acidemia, Cblb Type Methylmalonic Aciduria, Vitamin B12-Responsive, Due To Defect In Synthesis Of Adenosylcobalamin, Cblb Type Methylmalonic Aciduria, Vitamin B12-Responsive, Cblb Type Vitamin B12-Responsive Methylmalonic Acidemia Type Cblb Vitamin B12-Responsive Methylmalonic Aciduria, Type Cblb Methylmalonic Aciduria Type Cblb MMAB Methylmalonic Aciduria Type B Vitamin B12 Responsive Methylmalonic Acidemia Type Cbl B Vitamin B12 Responsive Methylmalonic Aciduria Type Cbl B Aciduria, Methylmalonic, Cblb Type Methylmalonic Acidemia Methylmalonic Aciduria
Muscular Dystrophy-Dystroglycanopathy , Type B, 1	MDDGB1 Muscular Dystrophy-Dystroglycanopathy , Type B1 Muscular Dystrophy, Congenital, Pomt1-Related Muscular Dystrophy-Dystroglycanopathy Type B1 Cmd Due To Dystroglycanopathy Muscular Dystrophy-Dystroglycanopathy Congenital With Impaired Intellectual Development B1 Muscular Dystrophy Congenital Pomt1-Related Muscular Dystrophy-Dystroglycanopathy Dystrophy, Muscular, Dystroglycanopathy , Type B1
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	MCAHS4 Glycosylphosphatidylinositol Biosynthesis Defect 19 Gpibd19 Developmental And Epileptic Encephalopathy 77 Epileptic Encephalopathy, Early Infantile, 77 Dee77 Eiee77 Developmental And Epileptic Encephalopathy, 77 Early Infantile Epileptic Encephalopathy 77 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome-4
Salt And Pepper Syndrome	Salt & Pepper Syndrome Salt-And-Pepper Syndrome
Congenital Muscular Dystrophy-Dystroglycanopathy Type A	Congenital Muscular Alpha-Dystroglycanopathy With Brain And Eye Anomalies Mddga Klissencephaly Type 2 With Muscular And Ocular Involvement Lissencephaly Type 2 With Muscular And Ocular Involvement
Walker-Warburg Syndrome	Hard Syndrome Walker-Warburg Congenital Muscular Dystrophy Cerebroocular Dysplasia-Muscular Dystrophy Syndrome Cod-Md Syndrome Chemke Syndrome Hydrocephalus, Agyria And Retinal Dysplasia Cerebroocular Dysgenesis Cerebroocular Dysplasia Muscular Dystrophy Syndrome Hard +/- E Syndrome Pagon Syndrome Warburg Syndrome Hydrocephalus, Agyria, And Retinal Dysplasia Mddga Muscular Dystrophy-Dystroglycanopathy , Type A Muscular Dystrophy-Dystroglycanopathy [With Brain And Eye Anomalies], Type A Hydrocephalus-Agyria-Retinal Dysplasia Syndrome Wws Dystrophy, Muscular, Dystroglycanopathy, Type A
Muscular Dystrophy-Dystroglycanopathy , Type A, 4	Fukuyama Congenital Muscular Dystrophy Fcmd MDDGA4 Fukuyama Type Congenital Muscular Dystrophy Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Fktn-Related Cerebromuscular Dystrophy, Fukuyama Type Fukuyama Cmd Fukuyama Muscular Dystrophy Fukuyama Syndrome Muscular Dystrophy, Congenital Progressive, With Mental Retardation Muscular Dystrophy, Congenital, Fukuyama Type Muscular Dystrophy, Congenital, With Central Nervous System Involvement Polymicrogyria With Muscular Dystrophy Congenital Muscular Dystrophy, Fukuyama Type Fktn-Related Congenital Muscular Dystrophy Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A4 Cerebromuscular Dystrophy Fukuyama Type Congenital Muscular Dystrophy Fukuyama Type Micropolygyria With Muscular Dystrophy Muscle-Eye-Brain Disease Fktn-Related Walker-Warburg Syndrome Fktn-Related
Muscular Dystrophy, Congenital, Lmna-Related	Congenital Muscular Dystrophy Congenital Muscular Dystrophy Due To Lmna Mutation MDCL L-Cmd Lmna-Related Congenital Muscular Dystrophy Muscular Dystrophy, Congenital Congenital Muscular Dystrophy Lmna-Related Lmna-Related Cmd Cmd Mdc Muscular Dystrophy Congenital Lmna-Related Dystrophy, Muscular, Congenital, Lmna-Related Dystrophy, Muscular, Congenital Hereditary Muscular Dystrophy Congenital Hereditary Muscular Dystrophy Congenital Progressive Muscular Dystrophy Hereditary Progressive Muscular Dystrophy
Congenital Disorder Of Glycosylation, Type Iii	CDG2I Congenital Disorder Of Glycosylation Type Iii Cdgiii Carbohydrate Deficient Glycoprotein Syndrome Type Iii Congenital Disorder Of Glycosylation Type 2i Cog5-Cdg Cdgiidi Congenital Disorder Of Glycosylation 2i Glycosylation, Congenital Disorder Of, Type Iii Congenital Disorder Of Glycosylation, Type I-Iix
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS03959	DPM2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21326	Dpm2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27845	Dpm2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	DPM2	VGNC	VGNC:71976
Felis catus	DPM2	VGNC	VGNC:61600
Mus musculus	DPM2	MGD	MGI:1330238
Rattus norvegicus	DPM2	RGD	RGD:2514
Bos taurus	DPM2	VGNC	VGNC:28184
Canis familiaris	DPM2	VGNC	VGNC:55563
Others	DPM2	NCBI