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Aliases for DPM2 Gene

Aliases for DPM2 Gene

  • Dolichyl-Phosphate Mannosyltransferase Subunit 2, Regulatory 2 3 5
  • Dolichyl-Phosphate Mannosyltransferase Polypeptide 2, Regulatory Subunit 2 3
  • Dolichol-Phosphate Mannose Synthase Subunit 2 3 4
  • DPM Synthase Complex Subunit 2 3
  • DPM Synthase Subunit 2 3 4
  • Dolichol Phosphate-Mannose Biosynthesis Regulatory Protein 3
  • CDG1U 3

External Ids for DPM2 Gene

Previous GeneCards Identifiers for DPM2 Gene

  • GC09U990089
  • GC09M122343
  • GC09M124151
  • GC09M126073
  • GC09M127776
  • GC09M129737
  • GC09M130697
  • GC09M100314

Summaries for DPM2 Gene

Entrez Gene Summary for DPM2 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-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]

GeneCards Summary for DPM2 Gene

DPM2 (Dolichyl-Phosphate Mannosyltransferase Subunit 2, Regulatory) is a Protein Coding gene. Diseases associated with DPM2 include Congenital Disorder Of Glycosylation, Type Iu and Epileptic Encephalopathy, Early Infantile, 36. Among its related pathways are N-Glycan biosynthesis and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include enzyme regulator activity and dolichyl-phosphate beta-D-mannosyltransferase activity.

UniProtKB/Swiss-Prot for DPM2 Gene

  • Regulates the biosynthesis of dolichol phosphate-mannose. Regulatory subunit of the dolichol-phosphate mannose (DPM) synthase complex; essential for the ER localization and stable expression of DPM1. When associated with the GPI-GlcNAc transferase (GPI-GnT) complex enhances but is not essential for its activity.

Gene Wiki entry for DPM2 Gene

Additional gene information for DPM2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DPM2 Gene

Genomics for DPM2 Gene

GeneHancer (GH) Regulatory Elements for DPM2 Gene

Promoters and enhancers for DPM2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J127935 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 650.7 +1.1 1141 4.3 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 YY1 POLR2B E2F8 ZNF143 DPM2 PIP5KL1 ST6GALNAC6 AK1 FAM102A ENSG00000230848 ENSG00000227218
GH09J127962 Promoter/Enhancer 2.3 FANTOM5 Ensembl ENCODE dbSUPER 23 -34.9 -34864 22.2 FEZF1 DMAP1 IRF4 YY1 E2F8 ZNF143 SP3 NFYC PPARGC1A MEF2D PIP5KL1 NAIF1 DPM2 LOC100129352 NUP188 ENSG00000227218 ZNF79 ODF2 GLE1 SLC25A25
GH09J128000 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 12.1 -63.5 -63468 2.7 HDGF PKNOX1 ATF1 ARNT SIN3A POLR2B ZNF766 GATA2 FOS ATF7 PIP5KL1 FAM102A DPM2 ENSG00000227218 ENSG00000230848 LOC102723566 SLC25A25 NAIF1 FPGS FAM129B
GH09J128070 Enhancer 1.4 FANTOM5 ENCODE dbSUPER 11.3 -134.3 -134347 4.9 ATF1 FOXA2 SMAD1 ARID4B YY1 ZNF766 ZNF213 ZNF143 ATF7 RUNX3 ENSG00000227218 DPM2 LCN2 C9orf16 CIZ1 ENSG00000230536 SLC25A25-AS1 SLC25A25 TOR2A SH2D3C
GH09J128077 Enhancer 1.4 Ensembl ENCODE dbSUPER 11.3 -141.8 -141785 5.6 HDGF PKNOX1 ARNT ARID4B YY1 TCF12 ZNF121 ZNF766 GATA2 FOS ENSG00000230848 SLC25A25-AS1 ENSG00000227218 DPM2 LCN2 C9orf16 CIZ1 ENSG00000230536 NAIF1 SLC25A25
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DPM2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DPM2 gene promoter:
  • Pax-4a
  • aMEF-2
  • MEF-2
  • MEF-2A

Genomic Locations for DPM2 Gene

Genomic Locations for DPM2 Gene
chr9:127,935,095-127,938,484
(GRCh38/hg38)
Size:
3,390 bases
Orientation:
Minus strand
chr9:130,697,374-130,700,763
(GRCh37/hg19)
Size:
3,390 bases
Orientation:
Minus strand

Genomic View for DPM2 Gene

Genes around DPM2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DPM2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DPM2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DPM2 Gene

Proteins for DPM2 Gene

  • Protein details for DPM2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O94777-DPM2_HUMAN
    Recommended name:
    Dolichol phosphate-mannose biosynthesis regulatory protein
    Protein Accession:
    O94777
    Secondary Accessions:
    • Q5XKK9
    • Q6FGH3

    Protein attributes for DPM2 Gene

    Size:
    84 amino acids
    Molecular mass:
    9312 Da
    Quaternary structure:
    • Component of the dolichol-phosphate mannose (DPM) synthase complex composed of DPM1, DPM2 and DPM3; in the complex interacts directly with DPM3. Associates with the GPI-GlcNAc transferase (GPI-GnT) complex.

neXtProt entry for DPM2 Gene

Post-translational modifications for DPM2 Gene

No Post-translational modifications

Other Protein References for DPM2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DPM2 Gene

Domains & Families for DPM2 Gene

Gene Families for DPM2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins

Protein Domains for DPM2 Gene

Graphical View of Domain Structure for InterPro Entry

O94777

UniProtKB/Swiss-Prot:

DPM2_HUMAN :
  • Belongs to the DPM2 family.
Family:
  • Belongs to the DPM2 family.
genes like me logo Genes that share domains with DPM2: view

Function for DPM2 Gene

Molecular function for DPM2 Gene

UniProtKB/Swiss-Prot Function:
Regulates the biosynthesis of dolichol phosphate-mannose. Regulatory subunit of the dolichol-phosphate mannose (DPM) synthase complex; essential for the ER localization and stable expression of DPM1. When associated with the GPI-GlcNAc transferase (GPI-GnT) complex enhances but is not essential for its activity.

Phenotypes From GWAS Catalog for DPM2 Gene

Gene Ontology (GO) - Molecular Function for DPM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004582 contributes_to dolichyl-phosphate beta-D-mannosyltransferase activity IDA 10835346
GO:0005515 protein binding IPI 10835346
GO:0030234 enzyme regulator activity IEA,IBA --
genes like me logo Genes that share ontologies with DPM2: view
genes like me logo Genes that share phenotypes with DPM2: view

Human Phenotype Ontology for DPM2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DPM2 Gene

MGI Knock Outs for DPM2:
  • Dpm2 Dpm2<tm1b(EUCOMM)Hmgu>

Animal Model Products

miRNA for DPM2 Gene

miRTarBase miRNAs that target DPM2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for DPM2 Gene

Localization for DPM2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DPM2 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DPM2 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3
mitochondrion 2
lysosome 1

Gene Ontology (GO) - Cellular Components for DPM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000506 glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex TAS 16280320
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS 16280320
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with DPM2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DPM2 Gene

Pathways & Interactions for DPM2 Gene

genes like me logo Genes that share pathways with DPM2: view

UniProtKB/Swiss-Prot O94777-DPM2_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Gene Ontology (GO) - Biological Process for DPM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006486 protein glycosylation IEA --
GO:0006506 GPI anchor biosynthetic process IDA 10835346
GO:0016254 preassembly of GPI anchor in ER membrane TAS --
GO:0018279 protein N-linked glycosylation via asparagine TAS --
GO:0019348 dolichol metabolic process IBA,IEA --
genes like me logo Genes that share ontologies with DPM2: view

No data available for SIGNOR curated interactions for DPM2 Gene

Drugs & Compounds for DPM2 Gene

(1) Drugs for DPM2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma 0

(3) Additional Compounds for DPM2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Dolichol-20
  • Dolichol
  • Dolichol (C100)
  • Dolichol 20
  • Dolichol phosphate
  • Dolichyl phosphate
2067-66-5
Dolichyl phosphate D-mannose
  • Dolichol phosphate mannose
  • Dolichyl D-mannosyl phosphate
  • DPM
908211-94-9
Guanosine diphosphate mannose
  • GDP-D-Mannose
  • GDPmannose
  • Guanosine 5'-(trihydrogen diphosphate), mono-alpha-D-mannopyranosyl ester
  • Guanosine diphosphomannose
  • Guanosine pyrophosphate mannose
3123-67-9
genes like me logo Genes that share compounds with DPM2: view

Transcripts for DPM2 Gene

mRNA/cDNA for DPM2 Gene

Unigene Clusters for DPM2 Gene

Dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DPM2 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3a · 3b ^ 4a · 4b
SP1: - - -
SP2: - -
SP3: -
SP4: -
SP5: -

Relevant External Links for DPM2 Gene

GeneLoc Exon Structure for
DPM2
ECgene alternative splicing isoforms for
DPM2

Expression for DPM2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DPM2 Gene

NURSA nuclear receptor signaling pathways regulating expression of DPM2 Gene:

DPM2

SOURCE GeneReport for Unigene cluster for DPM2 Gene:

Hs.108973

Evidence on tissue expression from TISSUES for DPM2 Gene

  • Nervous system(4.6)
  • Pancreas(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DPM2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • chin
  • cranial nerve
  • eye
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • skull
Thorax:
  • chest wall
  • clavicle
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with DPM2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for DPM2 Gene

Orthologs for DPM2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DPM2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DPM2 34 33
  • 99.21 (n)
OneToOne
dog
(Canis familiaris)
Mammalia DPM2 34 33
  • 93.25 (n)
OneToOne
cow
(Bos Taurus)
Mammalia DPM2 34 33
  • 89.29 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dpm2 33
  • 88.89 (n)
mouse
(Mus musculus)
Mammalia Dpm2 16 34 33
  • 86.9 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DPM2 34
  • 75 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DPM2 34
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves DPM2 34 33
  • 67.06 (n)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dpm2 33
  • 61.11 (n)
zebrafish
(Danio rerio)
Actinopterygii dpm2 34 33
  • 59.67 (n)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G74340 33
  • 60.61 (n)
rice
(Oryza sativa)
Liliopsida Os02g0140101 33
  • 61.84 (n)
Species where no ortholog for DPM2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for DPM2 Gene

ENSEMBL:
Gene Tree for DPM2 (if available)
TreeFam:
Gene Tree for DPM2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DPM2: view image

Paralogs for DPM2 Gene

No data available for Paralogs for DPM2 Gene

Variants for DPM2 Gene

Sequence variations from dbSNP and Humsavar for DPM2 Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs1004704382 uncertain-significance, Congenital disorder of glycosylation 127,938,432(-) C/G 5_prime_UTR_variant
rs112813338 likely-benign, Congenital disorder of glycosylation 127,938,202(-) G/A 5_prime_UTR_variant
rs11552794 conflicting-interpretations-of-pathogenicity, likely-benign, benign, not specified, Congenital disorder of glycosylation, Congenital disorder of glycosylation type 1u 127,936,566(-) C/T coding_sequence_variant, synonymous_variant
rs187834148 uncertain-significance, Congenital disorder of glycosylation 127,938,031(-) A/C 5_prime_UTR_variant
rs192275912 uncertain-significance, Congenital disorder of glycosylation 127,938,249(-) C/A 5_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for DPM2 Gene

Variant ID Type Subtype PubMed ID
nsv466577 CNV loss 19166990
nsv615381 CNV loss 21841781
nsv6722 CNV insertion 18451855
nsv831727 CNV loss 17160897

Variation tolerance for DPM2 Gene

Residual Variation Intolerance Score: 74.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.53; 11.43% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DPM2 Gene

Human Gene Mutation Database (HGMD)
DPM2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DPM2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DPM2 Gene

Disorders for DPM2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for DPM2 Gene - From: OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, and DISEASES

- elite association - COSMIC cancer census association via MalaCards
Search DPM2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DPM2_HUMAN
  • Congenital disorder of glycosylation 1U (CDG1U) [MIM:615042]: A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. Some CDG1U patients have dystrophic changes seen on muscle biopsy and reduced O-mannosyl glycans on alpha-dystroglycan. {ECO:0000269 PubMed:23109149}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for DPM2

genes like me logo Genes that share disorders with DPM2: view

No data available for Genatlas for DPM2 Gene

Publications for DPM2 Gene

  1. Human dolichol-phosphate-mannose synthase consists of three subunits, DPM1, DPM2 and DPM3. (PMID: 10835346) Maeda Y … Kinoshita T (The EMBO journal 2000) 3 4 22 58
  2. DPM2 regulates biosynthesis of dolichol phosphate-mannose in mammalian cells: correct subcellular localization and stabilization of DPM1, and binding of dolichol phosphate. (PMID: 9724629) Maeda Y … Kinoshita T (The EMBO journal 1998) 2 3 4 58
  3. DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy. (PMID: 23109149) Barone R … Lefeber DJ (Annals of neurology 2012) 3 4 58
  4. Initial enzyme for glycosylphosphatidylinositol biosynthesis requires PIG-P and is regulated by DPM2. (PMID: 10944123) Watanabe R … Kinoshita T (The EMBO journal 2000) 3 4 58
  5. Identification of VKORC1 interaction partners by split-ubiquitin system and coimmunoprecipitation. (PMID: 21103663) Schaafhausen A … Müller CR (Thrombosis and haemostasis 2011) 3 58

Products for DPM2 Gene

Sources for DPM2 Gene

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