Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	54344
Gene name Gene Name - the full gene name approved by the HGNC.	Dolichyl-phosphate mannosyltransferase subunit 3, regulatory
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	DPM3
Synonyms (NCBI Gene) Gene synonyms aliases	CDG1O, MDDGB15, MDDGC15
Disease Acronyms (UniProt) Disease acronyms from UniProt database	MDDGB15, MDDGC15
Chromosome Chromosome number	1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	1q22
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

Show/Hide all(3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121908155	A>G,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs745692004	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs1057518905	A>T	Likely-pathogenic	Missense variant, coding sequence variant

Show/Hide all(19)

miRTarBase ID	miRNA	Experiments	Reference
MIRT040333	hsa-miR-615-3p	CLASH	23622248
MIRT944130	hsa-miR-149	CLIP-seq
MIRT944131	hsa-miR-3153	CLIP-seq
MIRT944132	hsa-miR-3170	CLIP-seq
MIRT944133	hsa-miR-3202	CLIP-seq
MIRT944134	hsa-miR-3689a-3p	CLIP-seq
MIRT944135	hsa-miR-3689c	CLIP-seq
MIRT944136	hsa-miR-3929	CLIP-seq
MIRT944137	hsa-miR-4419b	CLIP-seq
MIRT944138	hsa-miR-4446-3p	CLIP-seq
MIRT944139	hsa-miR-4476	CLIP-seq
MIRT944140	hsa-miR-4478	CLIP-seq
MIRT944141	hsa-miR-4506	CLIP-seq
MIRT944142	hsa-miR-4668-5p	CLIP-seq
MIRT944143	hsa-miR-4675	CLIP-seq
MIRT944144	hsa-miR-4728-5p	CLIP-seq
MIRT944145	hsa-miR-4741	CLIP-seq
MIRT944146	hsa-miR-760	CLIP-seq
MIRT944147	hsa-miR-892b	CLIP-seq

Show/Hide all(20)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	10835346, 23856421
GO:0005783	Component	Endoplasmic reticulum	IDA	10835346
GO:0005789	Component	Endoplasmic reticulum membrane	TAS	16280320
GO:0005975	Process	Carbohydrate metabolic process	NAS	10835346
GO:0006506	Process	GPI anchor biosynthetic process	IBA	21873635
GO:0006506	Process	GPI anchor biosynthetic process	IDA	10835346
GO:0006506	Process	GPI anchor biosynthetic process	TAS	16280320
GO:0008047	Function	Enzyme activator activity	IDA	10835346
GO:0016020	Component	Membrane	HDA	19946888
GO:0018279	Process	Protein N-linked glycosylation via asparagine	TAS
GO:0018406	Process	Protein C-linked glycosylation via 2'-alpha-mannosyl-L-tryptophan	TAS	16280320
GO:0030176	Component	Integral component of endoplasmic reticulum membrane	IBA	21873635
GO:0030176	Component	Integral component of endoplasmic reticulum membrane	IDA	10835346
GO:0031501	Component	Mannosyltransferase complex	TAS	16280320
GO:0031647	Process	Regulation of protein stability	IPI	10835346
GO:0033185	Component	Dolichol-phosphate-mannose synthase complex	IBA	21873635
GO:0033185	Component	Dolichol-phosphate-mannose synthase complex	IDA	10835346
GO:0035268	Process	Protein mannosylation	TAS	16280320
GO:0035269	Process	Protein O-linked mannosylation	TAS	16280320
GO:0050790	Process	Regulation of catalytic activity	IEA

MIM	HGNC	e!Ensembl
605951	3007	ENSG00000179085

Protein

UniProt ID

Q9P2X0

Protein name

Dolichol-phosphate mannosyltransferase subunit 3 (Dolichol-phosphate mannose synthase subunit 3) (DPM synthase subunit 3) (Dolichyl-phosphate beta-D-mannosyltransferase subunit 3) (Mannose-P-dolichol synthase subunit 3) (MPD synthase subunit 3) (Prostin-1

Protein function

Stabilizer subunit of the dolichol-phosphate mannose (DPM) synthase complex; tethers catalytic subunit DPM1 to the endoplasmic reticulum.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08285	DPM3	1 → 91	Dolichol-phosphate mannosyltransferase subunit 3 (DPM3)	Family

Sequence

MTKLAQWLWGLAILGSTWVALTTGALGLELPLSCQEVLWPLPAYLLVSAGCYALGTVGYR
VATFHDCEDAARELQSQIQEARADLARRGLRF

Sequence length

Interactions

View interactions

	KEGG		Reactome
	N-Glycan biosynthesis Metabolic pathways		Synthesis of dolichyl-phosphate mannose Defective DPM1 causes DPM1-CDG (CDG-1e) Defective DPM3 causes DPM3-CDG (CDG-1o) Defective DPM2 causes DPM2-CDG (CDG-1u)

Show/Hide Causal Diseases (5)

Disease term	Disease name	dbSNP ID	References
Causal
Congenital disorder of glycosylation	Carbohydrate deficient glycoprotein syndrome type 1o, Congenital Disorder of Glycosylation, Type Io, DPM3-CDG	rs121434387, rs1264383808, rs766244312, rs1555497568, rs1555496968, rs267606740, rs1568296260, rs1562937199, rs28939378, rs121908583, rs1568757730, rs28936415, rs587776874, rs387906831, rs151173406 View all (80 more)	28357185, 19576565, 10835346, 28803818
Cardiomyopathy	Cardiomyopathy, Dilated, Cardiomyopathies	rs267607003, rs267607002, rs267607004, rs63750743, rs121908333, rs121908334, rs104894655, rs121434420, rs121434421, rs193922674, rs111517471, rs121908987, rs193922384, rs121909374, rs121909377 View all (900 more)
Limb-girdle muscular dystrophy	Muscular Dystrophies, Limb-Girdle	rs2137534216, rs104894422, rs762777463, rs104894423, rs137854524, rs137854521, rs137854523, rs137854529, rs398123555, rs119463996, rs587777814, rs119463992, rs267606971, rs267606967, rs28941782 View all (762 more)	19576565
Muscular dystrophy	Muscular Dystrophy	rs200198778, rs121908110, rs121908185, rs58932704, rs61672878, rs60458016, rs387906881, rs397509417, rs267607644, rs267607634, rs59332535, rs797045898, rs755660222, rs142908436, rs886039913 View all (15 more)
Myopathy	Myopathy	rs137854521, rs386834236, rs121908557, rs121909092, rs111033570, rs104894299, rs104894294, rs121909273, rs121909274, rs121909275, rs199474699, rs199476140, rs118192165, rs118192169, rs118192166 View all (81 more)

Show/Hide Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Prostate cancer	Prostate cancer	Together, these results show that PRRX2 is an oncogene and might play a role in the aggressiveness of PC within the DNPC population.		GWAS, CBGDA

Show/Hide Text Mining Associations (10)

Disease Name	Relationship Type	References
Associations from Text Mining
Cardiomyopathies	Associate	35932216
Congenital Disorder Of Glycosylation Type Im	Associate	19576565
Congenital Disorders of Glycosylation	Associate	19576565
Intellectual Disability	Associate	35932216
Leukoencephalopathies	Associate	35932216
Muscle Neoplasms	Associate	35932216
Muscular Diseases	Associate	35932216
Muscular Dystrophies	Associate	19576565
Seizures	Associate	35932216
Walker Warburg Syndrome	Associate	19576565, 30060766, 35932216

DPM3 (dolichyl-phosphate mannosyltransferase subunit 3, regulatory)