DPM2 - dolichyl-phosphate mannosyltransferase subunit 2, regulatory Gene

Homo sapiens

Also known as CDG1U

Gene ID: 8818 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03959	DPM2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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