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

Gene ID: 116891, updated on 27-Nov-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 signal recognition particle 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, Nov 2024]
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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See Derl2 in Genome Data Viewer
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 (37) 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)
  • Endonuclease-mediated (1) 
  • Targeted (4)  1 citation

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
  
enables signal recognition particle binding ISS
Inferred from Sequence or Structural Similarity
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 ERAD pathway ISS
Inferred from Sequence or Structural Similarity
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 endoplasmic reticulum unfolded protein response ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in negative regulation of retrograde protein transport, ER to cytosol IEA
Inferred from Electronic Annotation
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 growth ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of cell population proliferation ISO
Inferred from Sequence Orthology
more info
  
involved_in positive regulation of cell population proliferation ISS
Inferred from Sequence or Structural Similarity
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
  
involved_in retrograde protein transport, ER to cytosol ISS
Inferred from Sequence or Structural Similarity
more info
  
acts_upstream_of_or_within suckling behavior IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
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 endoplasmic reticulum membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in late endosome IDA
Inferred from Direct Assay
more info
 PubMed 

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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