Free for academic non-profit institutions. Other users need a Commercial license

Aliases for DERL2 Gene

Aliases for DERL2 Gene

  • Derlin 2 2 3 5
  • Degradation In Endoplasmic Reticulum Protein 2 3 4
  • Der1-Like Domain Family, Member 2 2 3
  • DERtrin-2 3 4
  • F-LAN-1 3 4
  • F-LANa 3 4
  • FLANa 3 4
  • Der1-Like Protein 2 4
  • Carcinoma Related 3
  • Derlin-2 3
  • CGI-101 3
  • DER2 4

External Ids for DERL2 Gene

Previous GeneCards Identifiers for DERL2 Gene

  • GC17M005311
  • GC17M005269
  • GC17M005374

Summaries for DERL2 Gene

Entrez Gene Summary for DERL2 Gene

  • Proteins that are unfolded or misfolded in the endoplasmic reticulum (ER) must be refolded or degraded to maintain the homeostasis of the ER. DERL2 is involved in the degradation of misfolded glycoproteins in the ER (Oda et al., 2006 [PubMed 16449189]).[supplied by OMIM, Mar 2008]

GeneCards Summary for DERL2 Gene

DERL2 (Derlin 2) is a Protein Coding gene. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Calnexin/calreticulin cycle. An important paralog of this gene is DERL3.

UniProtKB/Swiss-Prot for DERL2 Gene

  • Functional component of endoplasmic reticulum-associated degradation (ERAD) for misfolded lumenal glycoproteins, but not that of misfolded nonglycoproteins. May act by forming a channel that allows the retrotranslocation of misfolded glycoproteins into the cytosol where they are ubiquitinated and degraded by the proteasome. May mediate the interaction between VCP and misfolded glycoproteins (PubMed:16186509, PubMed:16449189). May also be involved in endoplasmic reticulum stress-induced pre-emptive quality control, a mechanism that selectively attenuates the translocation of newly synthesized proteins into the endoplasmic reticulum and reroutes them to the cytosol for proteasomal degradation (PubMed:26565908).

  • (Microbial infection) In contrast to DERL1, it is not involved in the degradation of MHC class I heavy chains following infection by cytomegaloviruses.

Gene Wiki entry for DERL2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DERL2 Gene

Genomics for DERL2 Gene

Regulatory Elements for DERL2 Gene

Enhancers for DERL2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17G004832 1.7 FANTOM5 ENCODE dbSUPER 10.4 +652.2 652195 4.2 HDGF FOXA2 PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 CHRNE LOC100130950 ZNF232 ZNF594 ENSG00000263272 CXCL16 ZMYND15 DERL2 CAMTA2 ENSG00000263164
GH17G005525 1.5 FANTOM5 Ensembl ENCODE 11.6 -40.2 -40236 3.2 PKNOX1 ATF1 INSM2 SIN3A KLF17 FEZF1 GLI4 RFX5 ZNF366 FOS NLRP1 RPAIN DERL2 MIS12 DHX33 RNU7-31P LOC105371507
GH17G005515 1.4 Ensembl ENCODE 11.7 -29.7 -29746 3.3 HDGF FOXA2 PKNOX1 MLX ARID4B SIN3A DMAP1 FEZF1 ZNF2 ZBTB7B DERL2 MIS12 RPAIN NLRP1 RNU7-31P LOC105371507
GH17G005416 1.6 Ensembl ENCODE dbSUPER 10.2 +67.9 67861 4.7 HDGF PKNOX1 WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZBTB7B YY1 ZNF302 RABEP1 RPAIN ENSG00000263272 C1QBP DHX33 LOC101927979 DERL2 NUP88 GC17P005414
GH17G004583 1.2 ENCODE dbSUPER 10.4 +900.2 900219 6.3 PKNOX1 SIN3A ZNF2 TCF12 GLIS2 FOS SP3 REST ZNF610 SMARCA4 GGT6 SMTNL2 RNU6-955P ALOX15 SHPK DERL2 VMO1 LINC01996
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DERL2 on UCSC Golden Path with GeneCards custom track

Promoters for DERL2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000090627 311 2201 HDGF PKNOX1 CREB3L1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1

Genomic Location for DERL2 Gene

Chromosome:
17
Start:
5,471,251 bp from pter
End:
5,486,811 bp from pter
Size:
15,561 bases
Orientation:
Minus strand

Genomic View for DERL2 Gene

Genes around DERL2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DERL2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DERL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DERL2 Gene

Proteins for DERL2 Gene

  • Protein details for DERL2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9GZP9-DERL2_HUMAN
    Recommended name:
    Derlin-2
    Protein Accession:
    Q9GZP9
    Secondary Accessions:
    • Q9Y3A7

    Protein attributes for DERL2 Gene

    Size:
    239 amino acids
    Molecular mass:
    27567 Da
    Quaternary structure:
    • Forms homo- and heterooligomers with DERL3 and, to a lesser extent, with DERL1 (PubMed:16186509). Interacts with the SEL1L/SYVN1 and VCP/SELENOS protein complexes (PubMed:16186509). Mediates association between VCP and EDEM1, as well as that between VCP and the misfolded glycoproteins (PubMed:16449189). Interacts with OS9 (PubMed:19084021). Part of a complex which includes CANX, DERL1, DERL2, DDOST/OST48, RPN1, RPN2, SELENOK, SELENOS, STT3A AND VCP (PubMed:22016385). Interact with the signal recognition particle/SRP and the SRP receptor; in the process of endoplasmic reticulum stress-induced pre-emptive quality control (PubMed:26565908).
    SequenceCaution:
    • Sequence=AAD34096.1; Type=Frameshift; Positions=122, 128, 136; Evidence={ECO:0000305};

neXtProt entry for DERL2 Gene

Post-translational modifications for DERL2 Gene

  • Ubiquitination at Lys200 and isoforms=206
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for DERL2

No data available for DME Specific Peptides for DERL2 Gene

Domains & Families for DERL2 Gene

Gene Families for DERL2 Gene

Protein Domains for DERL2 Gene

Suggested Antigen Peptide Sequences for DERL2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9GZP9

UniProtKB/Swiss-Prot:

DERL2_HUMAN :
  • Belongs to the derlin family.
Family:
  • Belongs to the derlin family.
genes like me logo Genes that share domains with DERL2: view

Function for DERL2 Gene

Molecular function for DERL2 Gene

UniProtKB/Swiss-Prot Function:
Functional component of endoplasmic reticulum-associated degradation (ERAD) for misfolded lumenal glycoproteins, but not that of misfolded nonglycoproteins. May act by forming a channel that allows the retrotranslocation of misfolded glycoproteins into the cytosol where they are ubiquitinated and degraded by the proteasome. May mediate the interaction between VCP and misfolded glycoproteins (PubMed:16186509, PubMed:16449189). May also be involved in endoplasmic reticulum stress-induced pre-emptive quality control, a mechanism that selectively attenuates the translocation of newly synthesized proteins into the endoplasmic reticulum and reroutes them to the cytosol for proteasomal degradation (PubMed:26565908).
UniProtKB/Swiss-Prot Function:
(Microbial infection) In contrast to DERL1, it is not involved in the degradation of MHC class I heavy chains following infection by cytomegaloviruses.
UniProtKB/Swiss-Prot Induction:
Up-regulated in response to endoplasmic reticulum stress via the ERN1-XBP1 pathway of the unfolded protein response (UPR).

Gene Ontology (GO) - Molecular Function for DERL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004252 serine-type endopeptidase activity IEA --
GO:0005515 protein binding IPI 16449189
genes like me logo Genes that share ontologies with DERL2: view
genes like me logo Genes that share phenotypes with DERL2: view

Animal Models for DERL2 Gene

MGI Knock Outs for DERL2:

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DERL2 Gene

Localization for DERL2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DERL2 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 DERL2 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3
endosome 2
cytosol 1

Gene Ontology (GO) - Cellular Components for DERL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005769 early endosome IEA --
GO:0005770 late endosome IEA --
GO:0005783 endoplasmic reticulum IDA,IEA 15215855
GO:0005785 colocalizes_with signal recognition particle receptor complex IDA 26565908
GO:0005789 endoplasmic reticulum membrane IEA,TAS --
genes like me logo Genes that share ontologies with DERL2: view

Pathways & Interactions for DERL2 Gene

genes like me logo Genes that share pathways with DERL2: view

Gene Ontology (GO) - Biological Process for DERL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001967 suckling behavior IEA --
GO:0006508 proteolysis IEA --
GO:0006986 response to unfolded protein IEA --
GO:0008284 positive regulation of cell proliferation IDA 11500051
GO:0030307 positive regulation of cell growth IDA 11500051
genes like me logo Genes that share ontologies with DERL2: view

No data available for SIGNOR curated interactions for DERL2 Gene

Transcripts for DERL2 Gene

Unigene Clusters for DERL2 Gene

Derlin 2:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for DERL2 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b · 6c ^ 7a · 7b ^ 8a · 8b · 8c · 8d ^ 9a · 9b · 9c · 9d · 9e
SP1: - - - - - - - - -
SP2: - - - - - -
SP3: - - - - - - - - -
SP4: - - - - - - - - - -
SP5: - - - - - - - - -
SP6: - -
SP7: - - - -
SP8: - - -
SP9: - -
SP10: - -
SP11: -
SP12: - - - - - - - - - - - - - - -
SP13: -
SP14: - - - - - -
SP15:

Relevant External Links for DERL2 Gene

GeneLoc Exon Structure for
DERL2
ECgene alternative splicing isoforms for
DERL2

Expression for DERL2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DERL2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for DERL2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (11.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for DERL2 Gene



Protein tissue co-expression partners for DERL2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DERL2 Gene:

DERL2

SOURCE GeneReport for Unigene cluster for DERL2 Gene:

Hs.286131

mRNA Expression by UniProt/SwissProt for DERL2 Gene:

Q9GZP9-DERL2_HUMAN
Tissue specificity: Ubiquitous. Overexpressed in various hepatocarcinomas.

Evidence on tissue expression from TISSUES for DERL2 Gene

  • Blood(4.3)
  • Liver(4.3)
  • Lymph node(4.3)
  • Spleen(4.3)
  • Nervous system(4.2)
  • Lung(2)
genes like me logo Genes that share expression patterns with DERL2: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for DERL2 Gene

Orthologs for DERL2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DERL2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DERL2 34 35
  • 99.16 (n)
oppossum
(Monodelphis domestica)
Mammalia DERL2 35
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DERL2 34 35
  • 95.26 (n)
dog
(Canis familiaris)
Mammalia DERL2 34 35
  • 93.58 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DERL2 35
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Derl2 34 16 35
  • 92.89 (n)
rat
(Rattus norvegicus)
Mammalia LOC100910823 34
  • 87.87 (n)
chicken
(Gallus gallus)
Aves DERL2 35
  • 93 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DERL2 35
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia derl2 34
  • 78.1 (n)
Str.17564 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.16815 34
zebrafish
(Danio rerio)
Actinopterygii derl2 34 35
  • 75.87 (n)
zgc63991 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4763 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000832 34
  • 65.22 (n)
fruit fly
(Drosophila melanogaster)
Insecta Der-2 34 35
  • 64.52 (n)
worm
(Caenorhabditis elegans)
Secernentea R151.6 34 35
  • 63.79 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DFM1 37
thale cress
(Arabidopsis thaliana)
eudicotyledons DER2.1 34
  • 55.76 (n)
rice
(Oryza sativa)
Liliopsida Os03g0852200 34
  • 56.87 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 71 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU00146 34
  • 50.56 (n)
Species where no ortholog for DERL2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • 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)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 DERL2 Gene

ENSEMBL:
Gene Tree for DERL2 (if available)
TreeFam:
Gene Tree for DERL2 (if available)

Paralogs for DERL2 Gene

Paralogs for DERL2 Gene

(2) SIMAP similar genes for DERL2 Gene using alignment to 8 proteins:

Pseudogenes.org Pseudogenes for DERL2 Gene

genes like me logo Genes that share paralogs with DERL2: view

Variants for DERL2 Gene

Sequence variations from dbSNP and Humsavar for DERL2 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs1000042589 -- 5,479,307(+) GACAA(C/T)TTCAC intron-variant
rs1000126694 -- 5,473,530(+) TGGTA(C/T)CTGTT nc-transcript-variant, utr-variant-3-prime
rs1000144265 -- 5,481,664(+) TTTTC(-/TTTT)GAGAC intron-variant
rs1000192971 -- 5,476,737(+) GATTG(A/T)GCCAC intron-variant
rs1000239552 -- 5,482,057(+) ATCCG(C/T)AGCAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DERL2 Gene

Variant ID Type Subtype PubMed ID
nsv1956 CNV deletion 18451855
nsv528302 CNV loss 19592680

Variation tolerance for DERL2 Gene

Residual Variation Intolerance Score: 26.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.12; 69.21% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DERL2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DERL2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DERL2 Gene

Disorders for DERL2 Gene

Relevant External Links for DERL2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DERL2

No disorders were found for DERL2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for DERL2 Gene

Publications for DERL2 Gene

  1. Multiprotein complexes that link dislocation, ubiquitination, and extraction of misfolded proteins from the endoplasmic reticulum membrane. (PMID: 16186509) Lilley B.N. … Ploegh H.L. (Proc. Natl. Acad. Sci. U.S.A. 2005) 3 4 22 64
  2. Cloning and characterization of F-LANa, upregulated in human liver cancer. (PMID: 11500051) Ying H. … Xu Y. (Biochem. Biophys. Res. Commun. 2001) 2 3 4 64
  3. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PMID: 10810093) Lai C.-H. … Lin W.-C. (Genome Res. 2000) 2 3 4 64
  4. Pre-emptive quality control protects the ER from protein overload via the proximity of ERAD components and SRP. (PMID: 26565908) Kadowaki H. … Nishitoh H. (Cell Rep. 2015) 3 4 64
  5. EDEM1 reveals a quality control vesicular transport pathway out of the endoplasmic reticulum not involving the COPII exit sites. (PMID: 17360537) Zuber C. … Roth J. (Proc. Natl. Acad. Sci. U.S.A. 2007) 3 22 64

Products for DERL2 Gene

Sources for DERL2 Gene

Content
Loading form....