DPM2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory [Homo sapiens (human)] - Gene

Summary

Official Symbol: DPM2provided by HGNC
Official Full Name: dolichyl-phosphate mannosyltransferase subunit 2, regulatoryprovided by HGNC
Primary source: HGNC:HGNC:3006
See related: Ensembl:ENSG00000136908 MIM:603564; AllianceGenome:HGNC:3006
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CDG1U
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]
Expression: Ubiquitous expression in stomach (RPKM 13.1), thyroid (RPKM 12.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9q34.11

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (127935099..127937854, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (140142875..140145630, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (130697378..130700133, complement)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Expanding the clinical and metabolic phenotype of DPM2 deficient congenital disorders of glycosylation.
Title: Expanding the clinical and metabolic phenotype of DPM2 deficient congenital disorders of glycosylation.
Yil102c-A is a Functional Homologue of the DPMII Subunit of Dolichyl Phosphate Mannose Synthase in Saccharomyces cerevisiae.
Title: Yil102c-A is a Functional Homologue of the DPMII Subunit of Dolichyl Phosphate Mannose Synthase in Saccharomyces cerevisiae.
In this study, 2 of 8 (primary angle-closure glaucoma) PACG-associated loci were associated significantly with PACS status, the earliest stage in the angle-closure glaucoma disease course. The association of these PACG loci with PACS status suggests that these loci may confer susceptibility to a narrow angle configuration.
Title: Evaluation of Primary Angle-Closure Glaucoma Susceptibility Loci in Patients with Early Stages of Angle-Closure Disease.
We describe a new congenital disorders of glycosylation, due to a deficiency of DPM2
Title: DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Congenital disorder of glycosylation MedGen: C0282577 GeneReviews: Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview	not available
Congenital muscular dystrophy with intellectual disability and severe epilepsy MedGen: C5190603 OMIM: 615042 GeneReviews: Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH36182 (e-PCR)
- UniSTS:28461

STS-W80399 (e-PCR)
- UniSTS:8919

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables enzyme activator activity	IDA Inferred from Direct Assay more info	PubMed
enables enzyme regulator activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in GPI anchor biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in GPI anchor biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in dolichol metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in protein O-linked mannosylation	TAS Traceable Author Statement more info	PubMed
involved_in regulation of protein stability	IPI Inferred from Physical Interaction more info	PubMed

Component	Evidence Code	Pubs
part_of dolichol-phosphate-mannose synthase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of dolichol-phosphate-mannose synthase complex	IDA Inferred from Direct Assay more info	PubMed
part_of dolichol-phosphate-mannose synthase complex	IPI Inferred from Physical Interaction more info	PubMed
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	NAS Non-traceable Author Statement more info	PubMed
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info	PubMed
part_of glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex	IDA Inferred from Direct Assay more info	PubMed
part_of glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex	IPI Inferred from Physical Interaction more info	PubMed
part_of glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: dolichol phosphate-mannose biosynthesis regulatory protein

Names: DPM synthase complex subunit; DPM synthase subunit 2; dolichol-phosphate mannose synthase subunit 2; dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit

NP_001365365.1

EC 2.4.1.83

NP_001365366.1

EC 2.4.1.83

NP_003854.1

EC 2.4.1.83

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_032927.1 RefSeqGene

Range

5631..8386

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001378436.1 → NP_001365365.1 dolichol phosphate-mannose biosynthesis regulatory protein isoform 2

Status: REVIEWED

Source sequence(s)

AL157935

Conserved Domains (1) summary

pfam07297
Location:5 → 31

DPM2; Dolichol phosphate-mannose biosynthesis regulatory protein (DPM2)
NM_001378437.1 → NP_001365366.1 dolichol phosphate-mannose biosynthesis regulatory protein isoform 3

Status: REVIEWED

Source sequence(s)

AL157935

Conserved Domains (1) summary

pfam07297
Location:1 → 48

DPM2; Dolichol phosphate-mannose biosynthesis regulatory protein (DPM2)
NM_003863.4 → NP_003854.1 dolichol phosphate-mannose biosynthesis regulatory protein isoform 1

See identical proteins and their annotated locations for NP_003854.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AL157935

Consensus CDS

CCDS6886.1

UniProtKB/Swiss-Prot

O94777, Q5XKK9, Q6FGH3

Related

ENSP00000322181.8, ENST00000314392.13

Conserved Domains (1) summary

pfam07297
Location:5 → 78

DPM2; Dolichol phosphate-mannose biosynthesis regulatory protein (DPM2)

RNA

NR_165631.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AL157935
NR_165632.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AL157935

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000009.12 Reference GRCh38.p14 Primary Assembly

Range

127935099..127937854 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060933.1 Alternate T2T-CHM13v2.0

Range

140142875..140145630 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_152690.1: Suppressed sequence

Description

NM_152690.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.