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
- HGNC: 3006
- Entrez Gene: 8818
- Ensembl: ENSG00000136908
- OMIM: 603564
- UniProtKB: O94777
Previous GeneCards Identifiers for DPM2 Gene
- GC09U990089
- GC09M122343
- GC09M124151
- GC09M126073
- GC09M127776
- GC09M129737
- GC09M130697
- GC09M100314
Summaries 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 Metabolism of proteins and Transport to the Golgi and subsequent modification. 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.
Additional gene information for DPM2 Gene
- Monarch Initiative
- Search for DPM2 at DataMed
- Search for DPM2 at HumanCyc
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
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around DPM2 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
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)
Genomic View for DPM2 Gene
Genes around DPM2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 9q34.11 by Ensembl
- 9q34.11 by Entrez Gene
- 9q34.11 by HGNC
DPM2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
Post-translational modifications for DPM2 Gene
No Post-translational modifications
Other Protein References for DPM2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for DPM2
- Invitrogen Antibodies for DPM2
- Search GeneTex for Antibodies for DPM2
Protein Products
-
OriGene Purified Proteins for DPM2
- Search Origene for MassSpec and Protein Over-expression Lysates for DPM2
- Origene Custom Protein Services for DPM2
- Search GeneTex for Proteins for DPM2
Assay Products
- antibodies-online: Search results for available DPM2 related products ranked by validation data
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
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for DPM2 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
O94777- Family:
-
- Belongs to the DPM2 family.
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
| 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 | IBA,IEA | -- |
Phenotypes for DPM2 Gene
- MGI mutant phenotypes for DPM2:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for DPM2:
Animal Models for DPM2 Gene
- MGI Knock Outs for DPM2:
-
- Dpm2 tm1b(EUCOMM)Hmgu
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for DPM2
-
-
ViGene Biosciences lentiviral particle packaged cDNA for DPM2 gene
- Search ViGene Biosciences for DPM2
CRISPR Products
-
OriGene CRISPR knockouts for DPM2
- genomics-online: gRNA clones - Search results for 114 available DPM2 gene related products
- Overview of 114 available DPM2 gene related products
- Applied Biological Materials CRISPR for DPM2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for DPM2
- GenScript: Design CRISPR guide RNA sequences for DPM2
miRNA for DPM2 Gene
- miRTarBase miRNAs that target DPM2
-
- hsa-mir-218-5p (MIRT440779)
- hsa-mir-887-5p (MIRT477926)
- hsa-mir-6780a-5p (MIRT477927)
- hsa-mir-6779-5p (MIRT477928)
- hsa-mir-3689c (MIRT477929)
- hsa-mir-3689b-3p (MIRT477930)
- hsa-mir-3689a-3p (MIRT477931)
- hsa-mir-30b-3p (MIRT477932)
- hsa-mir-1273h-5p (MIRT477933)
- hsa-mir-6788-5p (MIRT477934)
- hsa-mir-30c-2-3p (MIRT477935)
- hsa-mir-30c-1-3p (MIRT477936)
- hsa-mir-7150 (MIRT477937)
- hsa-mir-4425 (MIRT477938)
- hsa-mir-1294 (MIRT477939)
- hsa-mir-4316 (MIRT477940)
- hsa-mir-542-3p (MIRT477941)
- hsa-mir-4504 (MIRT477942)
- hsa-mir-92a-1-5p (MIRT477943)
- hsa-mir-6780b-5p (MIRT477944)
- hsa-mir-4725-3p (MIRT477945)
- hsa-mir-4271 (MIRT477946)
- hsa-mir-6799-5p (MIRT477947)
- hsa-mir-6883-5p (MIRT477948)
- hsa-mir-6785-5p (MIRT477949)
- hsa-mir-4728-5p (MIRT477950)
- hsa-mir-149-3p (MIRT477951)
- hsa-mir-7106-5p (MIRT477952)
- hsa-mir-4668-5p (MIRT477953)
- hsa-mir-4736 (MIRT477954)
- hsa-mir-4763-3p (MIRT477955)
- hsa-mir-1207-5p (MIRT477956)
- hsa-mir-31-5p (MIRT477957)
- hsa-mir-4294 (MIRT477958)
- hsa-mir-6124 (MIRT477959)
- hsa-mir-4696 (MIRT477960)
- hsa-mir-6086 (MIRT477961)
- hsa-mir-377-5p (MIRT477962)
- hsa-mir-655-5p (MIRT477963)
- hsa-mir-1827 (MIRT477964)
- hsa-mir-4751 (MIRT477965)
- hsa-mir-4693-3p (MIRT477966)
- hsa-mir-6761-5p (MIRT477967)
- hsa-mir-4329 (MIRT477968)
- hsa-mir-4251 (MIRT477969)
- hsa-mir-6764-5p (MIRT477970)
- hsa-mir-1915-3p (MIRT477971)
- hsa-mir-6754-5p (MIRT477972)
- hsa-mir-4441 (MIRT477973)
- hsa-mir-4270 (MIRT477974)
- hsa-mir-4459 (MIRT477975)
- hsa-mir-4501 (MIRT477976)
- hsa-mir-6865-5p (MIRT477977)
- hsa-mir-6815-5p (MIRT477978)
- hsa-mir-6783-5p (MIRT477979)
- hsa-mir-4779 (MIRT477980)
- hsa-mir-5586-3p (MIRT477981)
- hsa-mir-634 (MIRT477982)
- hsa-mir-125a-3p (MIRT736625)
- hsa-mir-3925-3p (MIRT742990)
- hsa-mir-3934-5p (MIRT743097)
- hsa-mir-4283 (MIRT743711)
- hsa-mir-4704-3p (MIRT747314)
- hsa-mir-4785 (MIRT748856)
- hsa-mir-542-5p (MIRT750420)
- hsa-mir-6777-5p (MIRT755384)
- hsa-mir-6796-3p (MIRT756150)
- hsa-mir-6805-5p (MIRT756474)
- hsa-mir-6825-5p (MIRT756970)
- hsa-mir-6846-5p (MIRT757432)
- hsa-mir-6848-5p (MIRT757506)
- hsa-mir-6889-5p (MIRT758633)
- hsa-mir-764 (MIRT759527)
- hsa-mir-99a-3p (MIRT760957)
- hsa-mir-99b-3p (MIRT760959)
- hsa-mir-4659a-5p (MIRT770772)
- hsa-mir-4659b-5p (MIRT770777)
- hsa-mir-5581-3p (MIRT774701)
- hsa-mir-6872-3p (MIRT780706)
miRNA Products
- Search ViGene Biosciences for DPM2
Inhibitory RNA Products
- Origene RNAi and shrna products in human, mouse, rat for DPM2
- Browse OriGene Inhibitory RNA Products For DPM2
- genomics-online: shRNA clones - Search results for 114 available DPM2 gene related products
- Overview of 114 available DPM2 gene related products
- Search ViGene Biosciences for DPM2
Clone Products
- Sino Biological Human cDNA Clone for DPM2
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for DPM2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for DPM2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for DPM2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for DPM2
-
ViGene Biosciences adenoviral particle packaged cDNA for DPM2 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for DPM2 gene
- Search ViGene Biosciences for DPM2
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.
| Compartment | Confidence |
|---|---|
| endoplasmic reticulum | 5 |
| plasma membrane | 3 |
| mitochondrion | 2 |
| lysosome | 1 |
| 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 | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for DPM2 Gene
Pathways & Interactions for DPM2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | N-Glycan biosynthesis | ||
| 2 | Glycosylphosphatidylinositol (GPI)-anchor biosynthesis | ||
| 3 | Synthesis of substrates in N-glycan biosythesis | ||
| 4 | Metabolism of proteins | ||
| 5 | Metabolism | ||
Pathways by source for DPM2 Gene
1 BioSystems pathway for DPM2 Gene
8 Reactome pathways for DPM2 Gene
3 KEGG pathways for DPM2 Gene
UniProtKB/Swiss-Prot O94777-DPM2_HUMAN
- Pathway: Protein modification; protein glycosylation.
Interacting Proteins 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 | IEA,IBA | -- |
No data available for SIGNOR curated interactions for DPM2 Gene
Drugs & Compounds for DPM2 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Guanosine diphosphate | Experimental | Pharma | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| Dolichol-20 |
|
2067-66-5 |
|
|||
| Dolichyl phosphate D-mannose |
|
908211-94-9 |
|
|||
| Guanosine diphosphate mannose |
|
3123-67-9 |
|
Transcripts for DPM2 Gene
mRNA/cDNA for DPM2 Gene
- (2) REFSEQ mRNAs :
- (10) Additional mRNA sequences :
- (291) Selected AceView cDNA sequences:
- (5) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for DPM2 Gene
CRISPR Products
-
OriGene CRISPR knockouts for DPM2
- genomics-online: gRNA clones - Search results for 114 available DPM2 gene related products
- Overview of 114 available DPM2 gene related products
- Applied Biological Materials CRISPR for DPM2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for DPM2
- GenScript: Design CRISPR guide RNA sequences for DPM2
miRNA Products
- Search ViGene Biosciences for DPM2
Inhibitory RNA Products
- Origene RNAi and shrna products in human, mouse, rat for DPM2
- Browse OriGene Inhibitory RNA Products For DPM2
- genomics-online: shRNA clones - Search results for 114 available DPM2 gene related products
- Overview of 114 available DPM2 gene related products
- Search ViGene Biosciences for DPM2
Clone Products
- Sino Biological Human cDNA Clone for DPM2
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for DPM2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for DPM2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for DPM2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | · | 2c | ^ | 3a | · | 3b | ^ | 4a | · | 4b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | ||||||||||||||
| SP2: | - | - | |||||||||||||||
| SP3: | - | ||||||||||||||||
| SP4: | - | ||||||||||||||||
| SP5: | - |
Expression for DPM2 Gene
NURSA nuclear receptor signaling pathways regulating expression of DPM2 Gene:
DPM2SOURCE GeneReport for Unigene cluster for DPM2 Gene:
Hs.108973Evidence 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
Organs:
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
Primer Products
-
OriGene qPCR primer pairs for DPM2
-
OriGene qPCR primer pairs and template standards for DPM2
- genomics-online: primer clones - Search results for 114 available DPM2 gene related products
- Overview of 114 available DPM2 gene related products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | DPM2 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | DPM2 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | DPM2 33 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Dpm2 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Dpm2 33 16 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | DPM2 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | DPM2 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | DPM2 33 34 |
|
||
| tropical clawed frog (Silurana tropicalis) |
Amphibia | dpm2 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | dpm2 33 34 |
|
||
| thale cress (Arabidopsis thaliana) |
eudicotyledons | AT1G74340 33 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os02g0140101 33 |
|
- 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)
Paralogs for DPM2 Gene
No data available for Paralogs for DPM2 Gene
Variants 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 |
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
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DPM2 Gene
Disorders for DPM2 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| congenital disorder of glycosylation, type iu |
|
|
| epileptic encephalopathy, early infantile, 36 |
|
|
| congenital disorder of glycosylation, type in |
|
|
| walker-warburg syndrome |
|
|
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
No data available for Genatlas for DPM2 Gene
Publications for DPM2 Gene
- 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
- 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
- DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy. (PMID: 23109149) Barone R … Lefeber DJ (Annals of neurology 2012) 3 4 58
- 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
- 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
- Browse R&D Systems for Antibodies
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- Browse OriGene Antibodies
- Custom Antibody Services
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- OriGene Purified Proteins for DPM2
- Search Origene for MassSpec and Protein Over-expression Lysates for DPM2
- Origene Custom Protein Services for DPM2
- Origene shrna and RNAi products in human, mouse, rat for DPM2
- Browse OriGene Inhibitory RNA Products For DPM2
- OriGene qPCR primer pairs and template standards for DPM2
- OriGene qPCR primer pairs for DPM2
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- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For DPM2
- GenScript: Next-day shipping of latest version cDNA ORF clones for DPM2 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for DPM2
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- GenScript Custom overexpressing Cell Line Services for DPM2
- GenScript: Design CRISPR guide RNA sequences for DPM2
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
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- Sino Biological Human cDNA Clone for DPM2
- Browse Sino Biological Cell Lysates
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- Sino Biological Transfection Reagent
- Sino Biological Anti-His Tag Antibody
- Novus Biologicals Antibodies for DPM2
- Novus Biologicals proteins and lysates for DPM2
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Browse Antibodies at Cloud-Clone Corp.
- Browse Proteins at Cloud-Clone Corp.
- Browse Assay Kits at Cloud-Clone Corp.
- Browse Knockouts at Cloud-Clone Corp.
- Browse Knockins at Cloud-Clone Corp.
- Cloud-Clone Corp. disease models service
- Browse cDNA clones at Cloud-Clone Corp.
- Browse primers at Cloud-Clone Corp.
- Cloud-Clone Corp. primary cells service
- Invitrogen Antibodies for DPM2
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Cyagen custom Knockout/knockin (KOKI) mouse models for DPM2
- VectorBuilder custom plasmid, inducible vectors for DPM2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for DPM2
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 28 available DPM2 Antibodies ranked by validation data
- Compare Top DPM2 Antibodies
- antibodies-online: Search results for available DPM2 related products ranked by validation data
- antibodies-online: Search results for 3 available DPM2 Proteins ranked by validation data
- Compare Top DPM2 Proteins
- Search GeneTex for Antibodies for DPM2
- Search GeneTex for Proteins for DPM2
- ViGene Biosciences adenoviral particle packaged cDNA for DPM2 gene
- ViGene Biosciences lentiviral particle packaged cDNA for DPM2 gene
- Search ViGene Biosciences for DPM2
- Horizon Cell Lines for DPM2
- genomics-online: cdna clones - Search results for 114 available DPM2 gene related products
- Overview of 114 available DPM2 gene related products
- orf clones - Search results for 114 available DPM2 gene related products
- Overview of 114 available DPM2 gene related products
- genomics-online: gRNA clones - Search results for 114 available DPM2 gene related products
- Overview of 114 available DPM2 gene related products
- genomics-online: primer clones - Search results for 114 available DPM2 gene related products
- Overview of 114 available DPM2 gene related products
- genomics-online: shRNA clones - Search results for 114 available DPM2 gene related products
- Overview of 114 available DPM2 gene related products
Sources for DPM2 Gene
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- (68) Cloud-Clone Corp.
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