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    Derl2 Der1-like domain family, member 2 [ Mus musculus (house mouse) ]

    Gene ID: 116891, updated on 21-Apr-2024

    Summary

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    Official Symbol
    Derl2provided by MGI
    Official Full Name
    Der1-like domain family, member 2provided by MGI
    Primary source
    MGI:MGI:2151483
    See related
    Ensembl:ENSMUSG00000018442 AllianceGenome:MGI:2151483
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Flana; F-lana; CGI-101; Derlin-2
    Summary
    Predicted to enable misfolded protein binding activity; signal recognition particle binding activity; and ubiquitin-specific protease binding activity. Acts upstream of or within retrograde protein transport, ER to cytosol and suckling behavior. Located in early endosome; endoplasmic reticulum; and late endosome. Is expressed in yolk sac and yolk sac endoderm. Orthologous to human DERL2 (derlin 2). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in placenta adult (RPKM 9.6), liver E18 (RPKM 9.3) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    11 B4; 11 43.21 cM
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (70898266..70910667, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (71007440..71019841, complement)

    Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene RPA interacting protein Neighboring gene complement component 1, q subcomponent binding protein Neighboring gene DEAH-box helicase 33 Neighboring gene predicted gene, 22297 Neighboring gene STARR-positive B cell enhancer ABC_E2359 Neighboring gene STARR-positive B cell enhancer ABC_E256 Neighboring gene CapStarr-seq enhancer MGSCv37_chr11:70833281-70833468 Neighboring gene MIS12 kinetochore complex component Neighboring gene RIKEN cDNA 6330403K07 gene Neighboring gene STARR-seq mESC enhancer starr_29883 Neighboring gene RNA binding motif protein 7 pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. ERAD components Derlin-1 and Derlin-2 are essential for postnatal brain development and motor function. Sugiyama T, et al. iScience, 2021 Jul 23. PMID 34355142, Free PMC Article
    2. Schwann cells ER-associated degradation contributes to myelin maintenance in adult nerves and limits demyelination in CMT1B mice. Volpi VG, et al. PLoS Genet, 2019 Apr. PMID 30995221, Free PMC Article
    3. Podocytes exhibit a specialized protein quality control employing derlin-2 in kidney disease. Ren G, et al. Am J Physiol Renal Physiol, 2018 Mar 1. PMID 29167172
    4. Cytolethal distending toxins require components of the ER-associated degradation pathway for host cell entry. Eshraghi A, et al. PLoS Pathog, 2014 Jul. PMID 25078082, Free PMC Article
    5. Cloning and characterization of F-LANa, upregulated in human liver cancer. Ying H, et al. Biochem Biophys Res Commun, 2001 Aug 17. PMID 11500051

    See all (36) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Derlin-2 is part of a protein quality control mechanism that can rescue glomerular injury attributable to impaired protein folding pathways in the endoplasmic reticulum.
      Title: Podocytes exhibit a specialized protein quality control employing derlin-2 in kidney disease.
    2. Whole-body deletion of derlin-2 leads to perinatal lethality and skeletal abnormalities.
      Title: Derlin-2-deficient mice reveal an essential role for protein dislocation in chondrocytes.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (4)  1 citation
    • Endonuclease-mediated (1) 

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC11613

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein-containing complex binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables signal recognition particle binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables signal recognition particle binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in ERAD pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in ERAD pathway ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in endoplasmic reticulum unfolded protein response IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in endoplasmic reticulum unfolded protein response ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of retrograde protein transport, ER to cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of cell growth ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of cell population proliferation ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within response to unfolded protein IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within retrograde protein transport, ER to cytosol IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in retrograde protein transport, ER to cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within suckling behavior IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in early endosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in late endosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    derlin-2
    Names
    carcinoma related
    degradation in endoplasmic reticulum protein 2
    der1-like protein 2
    derlin 2

    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.

    mRNA and Protein(s)

    1. NM_001291146.1 → NP_001278075.1  derlin-2 isoform b

      See identical proteins and their annotated locations for NP_001278075.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate 5'-terminal exon, lacks part of the 5' coding region, and uses a downstream start codon, compared to variant 1. The encoded isoform (b) has a shorter N-terminus, compared to isoform a. Both variants 2 and 3 encode the same isoform.
      Source sequence(s)
      AK082564, AK151934, AL596136, BC037503, CB526064
      Consensus CDS
      CCDS70235.1
      UniProtKB/TrEMBL
      Q3U957
      Related
      ENSMUSP00000127568.2, ENSMUST00000171041.8
      Conserved Domains (1) summary
      cl21536
      Location:1 → 129
      Rhomboid; Rhomboid family

    2. NM_001291147.1 → NP_001278076.1  derlin-2 isoform b

      See identical proteins and their annotated locations for NP_001278076.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in its 5' UTR and uses a downstream start codon, compared to variant 1. The encoded isoform (b) has a shorter N-terminus, compared to isoform a. Both variants 2 and 3 encode the same isoform.
      Source sequence(s)
      AK082564, AL596136, BC037503, BE627680, CB526064
      Consensus CDS
      CCDS70235.1
      UniProtKB/TrEMBL
      Q3U957
      Conserved Domains (1) summary
      cl21536
      Location:1 → 129
      Rhomboid; Rhomboid family

    3. NM_001291148.1 → NP_001278077.1  derlin-2 isoform c

      See identical proteins and their annotated locations for NP_001278077.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. The encoded isoform (c) is shorter, compared to isoform a.
      Source sequence(s)
      AK082564, AL596136, BC037503, CB526064
      UniProtKB/Swiss-Prot
      Q8BNI4
      Conserved Domains (1) summary
      pfam04511
      Location:13 → 202
      DER1; Der1-like family

    4. NM_033562.4 → NP_291040.1  derlin-2 isoform a

      See identical proteins and their annotated locations for NP_291040.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AK082564, AL596136, BC037503, CB526064
      Consensus CDS
      CCDS24972.1
      UniProtKB/Swiss-Prot
      Q8BNI4, Q920I5, Q99J12
      Related
      ENSMUSP00000117052.2, ENSMUST00000143850.8
      Conserved Domains (1) summary
      pfam04511
      Location:13 → 203
      DER1; Der1-like family

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000077.7 Reference GRCm39 C57BL/6J

      Range
      70898266..70910667 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017314227.3 → XP_017169716.1  derlin-2 isoform X1

      Conserved Domains (1) summary
      cl21536
      Location:13 → 59
      Rhomboid; Rhomboid family
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8BNI4.2 GenPept UniProtKB/Swiss-Prot:Q8BNI4

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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