RPN2 Gene (Protein Coding)

Ribophorin II

GC20P037178
GIFtS:
41
This gene encodes a type I integral membrane protein found only in the rough endoplasmic reticulum. The encoded protein is part of an N-oligosaccharyl transferase complex that links high mannose oligosaccharides to asparagine residues found in the Asn-X-Ser/Thr consensus motif of nascent polypeptide chains. This protein is similar in sequence to the yeast oligosaccharyl transfe... See more...

Aliases for RPN2 Gene

Aliases for RPN2 Gene

  • Ribophorin II 2 3 4 5
  • RIBIIR 2 3 4
  • RPN-II 2 3 4
  • Dolichyl-Diphosphooligosaccharide--Protein Glycosyltransferase 63 KDa Subunit 3 4
  • Dolichyl-Diphosphooligosaccharide--Protein Glycosyltransferase Subunit 2 3 4
  • Oligosaccharyltransferase Complex Subunit (Non-Catalytic) 2 3
  • Ribophorin-2 3 4
  • RPNII 2 3
  • SWP1 2 3
  • EC 2.4.1.119 51
  • RPN2 5

External Ids for RPN2 Gene

Previous GeneCards Identifiers for RPN2 Gene

  • GC20P035535
  • GC20P036445
  • GC20P036492
  • GC20P035240
  • GC20P035806
  • GC20P032542

Summaries for RPN2 Gene

Entrez Gene Summary for RPN2 Gene

  • This gene encodes a type I integral membrane protein found only in the rough endoplasmic reticulum. The encoded protein is part of an N-oligosaccharyl transferase complex that links high mannose oligosaccharides to asparagine residues found in the Asn-X-Ser/Thr consensus motif of nascent polypeptide chains. This protein is similar in sequence to the yeast oligosaccharyl transferase subunit SWP1. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]

GeneCards Summary for RPN2 Gene

RPN2 (Ribophorin II) is a Protein Coding gene. Diseases associated with RPN2 include Encephalitozoonosis and Microsporidiosis. Among its related pathways are Viral mRNA Translation and Transport to the Golgi and subsequent modification. Gene Ontology (GO) annotations related to this gene include ribosome binding and dolichyl-diphosphooligosaccharide-protein glycotransferase activity.

UniProtKB/Swiss-Prot Summary for RPN2 Gene

  • Subunit of the oligosaccharyl transferase (OST) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol-pyrophosphate to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains, the first step in protein N-glycosylation. N-glycosylation occurs cotranslationally and the complex associates with the Sec61 complex at the channel-forming translocon complex that mediates protein translocation across the endoplasmic reticulum (ER). All subunits are required for a maximal enzyme activity.

Gene Wiki entry for RPN2 Gene

Additional gene information for RPN2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RPN2 Gene

Genomics for RPN2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for RPN2 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
GH20J037177 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 600.7 +1.0 991 4 SP1 HNRNPL CREB1 GATAD2A CTCF ATF7 PRDM10 ZNF629 TFE3 SIX5 MROH8 RPN2 TTI1 RBL1 DSN1 SRC RF00017-3578
GH20J038139 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 21.3 +977.6 977580 33.6 ARHGAP35 CEBPG HNRNPL CREB1 GATAD2A CTCF ATF7 TEAD4 YBX1 PRDM10 TGM2 RALGAPB ACTR5 RN7SKP173 SNHG17 TTI1 SNORA71A SNORA71C DHX35 RPN2
GH20J037343 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 16.8 +168.6 168605 7.8 HNRNPL GATAD2A PRDM10 TFE3 IKZF1 NFKBIZ ZNF692 POLR2A RCOR2 FOXA1 SRC MANBAL RPN2 RPRD1B TTI1 RBL1 MROH8 TGIF2 TLDC2 DSN1
GH20J036459 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 16.8 -711.6 -711647 13.6 RNF2 HNRNPL GATAD2A TEAD4 PRDM10 ZNF629 REST TFE3 LEF1 SOX13 DLGAP4 RBM12 RBM39 RBL1 RPL36P4 AAR2 ERGIC3 RPN2 CPNE1 TGIF2
GH20J037288 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 16.9 +111.6 111570 2.8 HNRNPL CREB1 GATAD2A PRDM10 ZNF629 TFE3 RFX1 SIX5 SOX13 IKZF1 MANBAL NONHSAG031725.2 RBL1 TTI1 RPN2 RPRD1B DSN1 TGIF2 TLDC2 SRC
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RPN2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RPN2

Top Transcription factor binding sites by QIAGEN in the RPN2 gene promoter:
  • AP-1
  • AP-2alpha
  • AP-2alphaA
  • AP-2beta
  • AP-2gamma
  • c-Fos
  • c-Jun
  • CREB
  • E47
  • Hand1

Genomic Locations for RPN2 Gene

Genomic Locations for RPN2 Gene
chr20:37,178,410-37,241,623
(GRCh38/hg38)
Size:
63,214 bases
Orientation:
Plus strand
chr20:35,806,813-35,870,026
(GRCh37/hg19)
Size:
63,214 bases
Orientation:
Plus strand

Genomic View for RPN2 Gene

Genes around RPN2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RPN2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RPN2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for RPN2 Gene

Proteins for RPN2 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for RPN2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P04844-RPN2_HUMAN
    Recommended name:
    Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 2
    Protein Accession:
    P04844
    Secondary Accessions:
    • Q5JYR6
    • Q6IBA5
    • Q96E21
    • Q9BUQ3
    • Q9UBE1

    Protein attributes for RPN2 Gene

    Size:
    631 amino acids
    Molecular mass:
    69284 Da
    Quaternary structure:
    • Component of the oligosaccharyltransferase (OST) complex. OST exists in two different complex forms which contain common core subunits RPN1, RPN2, OST48, OST4, DAD1 and TMEM258, either STT3A or STT3B as catalytic subunits, and form-specific accessory subunits (PubMed:23606741, PubMed:25135935). STT3A complex assembly occurs through the formation of 3 subcomplexes. Subcomplex 1 contains RPN1 and TMEM258, subcomplex 2 contains the STT3A-specific subunits STT3A, DC2/OSTC, and KCP2 as well as the core subunit OST4, and subcomplex 3 contains RPN2, DAD1, and OST48. The STT3A complex can form stable complexes with the Sec61 complex or with both the Sec61 and TRAP complexes (By similarity). Interacts with DDI2 (PubMed:29290612).

    Three dimensional structures from OCA and Proteopedia for RPN2 Gene

    Alternative splice isoforms for RPN2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RPN2 Gene

Protein Expression for RPN2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for RPN2 Gene

P04844:
  • VTFLAGNRMLAQ
  • DVERLKASLDRPFT
  • YWTQLNMFQTLKYLA
  • LLLAAVSEDS
  • PEKRPPTVVSNTFT
  • TALFVAATYKLMDHVGTEPS
  • GTEPSIKEDQVIQLMN
  • LILSPLLLLFALWIRIGA
  • NRYHVPVVVVPEGS
  • KQEIQHLFR
  • VKLEHAKS
  • KNVYKFELDTSERK

Post-translational modifications for RPN2 Gene

  • Glycosylation at Asn106
  • Ubiquitination at Lys154 and Lys627
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Other Protein References for RPN2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for RPN2 Gene

Gene Families for RPN2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for RPN2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RPN2 Gene

GenScript: Design optimal peptide antigens:
  • Ribophorin II (Q5JYR2_HUMAN)
  • Ribophorin II (Q5JYR3_HUMAN)
  • cDNA FLJ38924 fis, clone NT2NE2011896, highly similar to Dolichyl-diphosphooligosaccharide--protein glycosyltransferase 63 kDa subunit (EC 2.4.1.119) (Q5JYR6_HUMAN)
  • Ribophorin-2 (RPN2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P04844

UniProtKB/Swiss-Prot:

RPN2_HUMAN :
  • Belongs to the SWP1 family.
Family:
  • Belongs to the SWP1 family.
genes like me logo Genes that share domains with RPN2: view

Function for RPN2 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for RPN2 Gene

UniProtKB/Swiss-Prot Function:
Subunit of the oligosaccharyl transferase (OST) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol-pyrophosphate to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains, the first step in protein N-glycosylation. N-glycosylation occurs cotranslationally and the complex associates with the Sec61 complex at the channel-forming translocon complex that mediates protein translocation across the endoplasmic reticulum (ER). All subunits are required for a maximal enzyme activity.
GENATLAS Biochemistry:
ribophorin II,69.5kDa,component with RPN1 and DDOST of N-oligosacccharyl transferase

Enzyme Numbers (IUBMB) for RPN2 Gene

Phenotypes From GWAS Catalog for RPN2 Gene

Gene Ontology (GO) - Molecular Function for RPN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004579 contributes_to dolichyl-diphosphooligosaccharide-protein glycotransferase activity NAS 15835887
GO:0005515 protein binding IPI 24965446
GO:0043022 ribosome binding IEA --
genes like me logo Genes that share ontologies with RPN2: view
genes like me logo Genes that share phenotypes with RPN2: view

Animal Models for RPN2 Gene

MGI Knock Outs for RPN2:
  • Rpn2 Rpn2<tm1a(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RPN2

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RPN2 Gene

Localization for RPN2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RPN2 Gene

Endoplasmic reticulum. 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 RPN2 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 2
extracellular 2
cytoskeleton 1
mitochondrion 1
nucleus 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RPN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000421 autophagosome membrane IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA,TAS --
GO:0005791 rough endoplasmic reticulum IEA --
GO:0008250 oligosaccharyltransferase complex IEA,TAS 15835887
genes like me logo Genes that share ontologies with RPN2: view

Pathways & Interactions for RPN2 Gene

genes like me logo Genes that share pathways with RPN2: view

Pathways by source for RPN2 Gene

1 BioSystems pathway for RPN2 Gene
1 GeneGo (Thomson Reuters) pathway for RPN2 Gene
  • CFTR folding and maturation (norm and CF)

UniProtKB/Swiss-Prot P04844-RPN2_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Gene Ontology (GO) - Biological Process for RPN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006464 cellular protein modification process TAS 10660554
GO:0006486 protein glycosylation IEA --
GO:0006487 protein N-linked glycosylation IEA,IDA 9642163
GO:0007568 aging IEA --
GO:0018279 protein N-linked glycosylation via asparagine NAS,TAS --
genes like me logo Genes that share ontologies with RPN2: view

No data available for SIGNOR curated interactions for RPN2 Gene

Drugs & Compounds for RPN2 Gene

Products:

  1. Drug

(1) Drugs for RPN2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Asparagine Approved, Investigational Nutra 36

(1) Additional Compounds for RPN2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Dolichyl diphosphate
37247-98-6
genes like me logo Genes that share compounds with RPN2: view

Transcripts for RPN2 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for RPN2 Gene

9 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RPN2

Alternative Splicing Database (ASD) splice patterns (SP) for RPN2 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b · 11c ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16a · 16b ^ 17a · 17b ·
SP1: - - - - - - -
SP2: - - - - - - - -
SP3: - - - -
SP4: -
SP5: - - - -
SP6: - -
SP7: - - -
SP8: - -
SP9:
SP10:
SP11:
SP12:

ExUns: 17c ^ 18 ^ 19a · 19b ^ 20 ^ 21
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8: -
SP9:
SP10:
SP11:
SP12:

Relevant External Links for RPN2 Gene

GeneLoc Exon Structure for
RPN2

Expression for RPN2 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RPN2 Gene

mRNA expression in normal human tissues for RPN2 Gene
mRNA expression by GTEx for RPN2 GenemRNA expression by BioGPS for RPN2 Gene

Protein differential expression in normal tissues from HIPED for RPN2 Gene

This gene is overexpressed in Placenta (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RPN2 Gene



Protein tissue co-expression partners for RPN2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RPN2

SOURCE GeneReport for Unigene cluster for RPN2 Gene:

Hs.370895

mRNA Expression by UniProt/SwissProt for RPN2 Gene:

P04844-RPN2_HUMAN
Tissue specificity: Expressed in all tissues tested.

Evidence on tissue expression from TISSUES for RPN2 Gene

  • Pancreas(4.9)
  • Liver(4.6)
  • Blood(4.5)
  • Muscle(4.5)
  • Nervous system(4.4)
  • Intestine(4.3)
  • Skin(4)
  • Lung(4)
  • Eye(3.1)
  • Kidney(2.8)
  • Stomach(2.4)
  • Lymph node(2.4)
  • Thyroid gland(2.1)
genes like me logo Genes that share expression patterns with RPN2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for RPN2 Gene

Orthologs for RPN2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RPN2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia RPN2 30 31
  • 99.26 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia RPN2 30 31
  • 91.8 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia RPN2 30 31
  • 91.34 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Rpn2 30
  • 89.43 (n)
Mouse
(Mus musculus)
 Mammalia Rpn2 30 17 31
  • 88.38 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia RPN2 31
  • 83 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves RPN2 30 31
  • 75.83 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia RPN2 31
  • 80 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia rpn2 30
  • 69.27 (n)
Str.9570 30
African clawed frog
(Xenopus laevis)
 Amphibia MGC53764 30
Zebrafish
(Danio rerio)
 Actinopterygii rpn2 30 31
  • 66.83 (n)
 OneToOne
Dr.4217 30
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.1730 30
Fruit Fly
(Drosophila melanogaster)
 Insecta OstDelta 30
  • 45.96 (n)
CG6370 31 32
  • 30 (a)
 OneToOne
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP007638 30
  • 44.55 (n)
Worm
(Caenorhabditis elegans)
 Secernentea ostd-1 30 31
  • 48.85 (n)
 OneToOne
M01A10.3 32
  • 36 (a)
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons HAP6 30
  • 43.43 (n)
Rice
(Oryza sativa)
 Liliopsida Os01g0911200 30
  • 43.51 (n)
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.10212 31
  • 33 (a)
 OneToOne
Species where no ortholog for RPN2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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)

Evolution for RPN2 Gene

ENSEMBL:
Gene Tree for RPN2 (if available)
TreeFam:
Gene Tree for RPN2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RPN2: view image

Paralogs for RPN2 Gene

No data available for Paralogs for RPN2 Gene

Variants for RPN2 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RPN2 Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
665794 Uncertain Significance: Congenital disorder of glycosylation 37,232,370(+) GT/CA MISSENSE_VARIANT,INTRON_VARIANT
683687 Benign: not provided 37,236,651(+) C/T SYNONYMOUS_VARIANT
722044 Likely Benign: not provided 37,232,367(+) G/A SYNONYMOUS_VARIANT,INTRON_VARIANT
763560 Likely Benign: not provided 37,184,171(+) C/T INTRON_VARIANT
779621 Benign: Congenital disorder of glycosylation 37,198,500(+) C/T INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for RPN2 Gene

Structural Variations from Database of Genomic Variants (DGV) for RPN2 Gene

Variant ID Type Subtype PubMed ID
dgv2248n106 CNV deletion 24896259
esv1174249 CNV deletion 17803354
esv2082246 CNV deletion 18987734
esv2516589 CNV deletion 19546169
esv2663037 CNV deletion 23128226
esv2722385 CNV deletion 23290073
esv3557043 CNV deletion 23714750
esv3567958 CNV loss 25503493
esv3645750 CNV gain 21293372
esv4013 CNV loss 18987735
esv8416 CNV loss 19470904
nsv1071694 CNV deletion 25765185
nsv1109378 CNV deletion 24896259
nsv1151621 CNV deletion 26484159
nsv519722 CNV loss 19592680
nsv956193 CNV deletion 24416366

Variation tolerance for RPN2 Gene

Residual Variation Intolerance Score: 75.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.89; 59.15% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RPN2 Gene

Human Gene Mutation Database (HGMD)
RPN2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RPN2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RPN2 Gene

Disorders for RPN2 Gene

MalaCards: The human disease database

(6) MalaCards diseases for RPN2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
encephalitozoonosis
  • infection by encephalitozoon
microsporidiosis
  • infection by microspora
anemia, congenital dyserythropoietic, type iii
  • cdan3
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type i
  • cdg1
hermansky-pudlak syndrome
  • albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
- elite association - COSMIC cancer census association via MalaCards
Search RPN2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RPN2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with RPN2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RPN2 Gene

Publications for RPN2 Gene

  1. Removal of RTF2 from Stalled Replisomes Promotes Maintenance of Genome Integrity. (PMID: 29290612) Kottemann MC … Smogorzewska A (Molecular cell 2018) 3 4
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  3. Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease. (PMID: 19668339) Potkin SG … Alzheimer's Disease Neuroimaging Initiative (PloS one 2009) 3 41
  4. RPN2 gene confers docetaxel resistance in breast cancer. (PMID: 18724378) Honma K … Ochiya T (Nature medicine 2008) 3 23
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

ExternalLinks

View latest publications for RPN2 gene in Mastermind

Products for RPN2 Gene

  • Addgene plasmids for RPN2

Sources for RPN2 Gene