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DERL2 derlin 2 [ Homo sapiens (human) ]

Gene ID: 51009, updated on 11-Sep-2019

Summary

Official Symbol
DERL2provided by HGNC
Official Full Name
derlin 2provided by HGNC
Primary source
HGNC:HGNC:17943
See related
Ensembl:ENSG00000072849 MIM:610304
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FLANa; F-LANa; CGI-101; F-LAN-1; derlin-2; DERtrin-2
Summary
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]
Expression
Ubiquitous expression in thyroid (RPKM 9.0), testis (RPKM 7.8) and 25 other tissues See more
Orthologs

Genomic context

See DERL2 in Genome Data Viewer
Location:
17p13.2
Exon count:
8
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (5471254..5486225, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (5377582..5389520, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene DEAH-box helicase 33 Neighboring gene DHX33 divergent transcript Neighboring gene MIS12 kinetochore complex component Neighboring gene uncharacterized LOC728392

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from BioSystems

  • ABC transporter disorders, organism-specific biosystem (from REACTOME)
    ABC transporter disorders, organism-specific biosystemThe ATP-binding cassette (ABC) transporters form a large family of transmembrane proteins that utilise the energy from the hydrolysis of ATP to facilitate the movement of a wide variety of substrates...
  • ABC-family proteins mediated transport, organism-specific biosystem (from REACTOME)
    ABC-family proteins mediated transport, organism-specific biosystemThe ATP-binding cassette (ABC) superfamily of active transporters involves a large number of functionally diverse transmembrane proteins. They transport a variety of compounds through membranes agai...
  • Asparagine N-linked glycosylation, organism-specific biosystem (from REACTOME)
    Asparagine N-linked glycosylation, organism-specific biosystemN-linked glycosylation is the most important form of post-translational modification for proteins synthesized and folded in the Endoplasmic Reticulum (Stanley et al. 2009). An early study in 1999 rev...
  • Calnexin/calreticulin cycle, organism-specific biosystem (from REACTOME)
    Calnexin/calreticulin cycle, organism-specific biosystemThe unfolded protein is recognized by a chaperon protein (calnexin or calreticulin) and the folding process starts. The binding of these protein requires a mono-glucosylated glycan (Caramelo JJ and P...
  • Defective CFTR causes cystic fibrosis, organism-specific biosystem (from REACTOME)
    Defective CFTR causes cystic fibrosis, organism-specific biosystemCystic fibrosis transmembrane conductance regulator (CFTR) is a low conductance chloride-selective channel that mediates the transport of chloride ions in human airway epithelial cells. Chloride ions...
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • Diseases of signal transduction, organism-specific biosystem (from REACTOME)
    Diseases of signal transduction, organism-specific biosystemSignaling processes are central to human physiology (e.g., Pires-da Silva & Sommer 2003), and their disruption by either germ-line and somatic mutation can lead to serious disease. Here, the molecula...
  • Disorders of transmembrane transporters, organism-specific biosystem (from REACTOME)
    Disorders of transmembrane transporters, organism-specific biosystemProteins with transporting functions can be roughly classified into 3 categories: ATP hydrolysis-coupled pumps, ion channels, and transporters. Pumps utilize the energy released by ATP hydrolysis to ...
  • ER Quality Control Compartment (ERQC), organism-specific biosystem (from REACTOME)
    ER Quality Control Compartment (ERQC), organism-specific biosystemProteins that are released from the CNX or CRT complex with folding defects accumulate in a compartment of the ER called ERQC (Kamhi-Nesher et al. 2001). Here, the enzymes UGGG1 or UGGG2 are able to ...
  • HRD1/SEL1 ERAD complex, organism-specific biosystem (from KEGG)
    HRD1/SEL1 ERAD complex, organism-specific biosystemStructural complex; Genetic information processing; Protein processing
  • HRD1/SEL1 ERAD complex, conserved biosystem (from KEGG)
    HRD1/SEL1 ERAD complex, conserved biosystemStructural complex; Genetic information processing; Protein processing
  • Hedgehog ligand biogenesis, organism-specific biosystem (from REACTOME)
    Hedgehog ligand biogenesis, organism-specific biosystemMammalian genomes encode three Hedgehog ligands, Sonic Hedgehog (SHH), Indian Hedgehog (IHH) and Desert Hedgehog (DHH). These secreted morphogens can remain associated with lipid rafts on the surfac...
  • Hh mutants abrogate ligand secretion, organism-specific biosystem (from REACTOME)
    Hh mutants abrogate ligand secretion, organism-specific biosystemHh signaling is required for a number of developmental processes, and mutations that disrupt the normal processing and biogenesis of Hh ligand can result in neonatal abnormalities. SHH is one of a n...
  • Hh mutants that don't undergo autocatalytic processing are degraded by ERAD, organism-specific biosystem (from REACTOME)
    Hh mutants that don't undergo autocatalytic processing are degraded by ERAD, organism-specific biosystemHh signaling is required for a number of developmental processes, and mutations that disrupt the normal processing and biogenesis of Hh ligand can result in neonatal abnormalities. SHH is one of a n...
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • N-glycan trimming in the ER and Calnexin/Calreticulin cycle, organism-specific biosystem (from REACTOME)
    N-glycan trimming in the ER and Calnexin/Calreticulin cycle, organism-specific biosystemAfter being synthesized in the ER membrane the 14-sugars lipid-linked oligosaccharide is co-translationally transferred to an unfolded protein, as described in the previous steps. After this point th...
  • Post-translational protein modification, organism-specific biosystem (from REACTOME)
    Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
  • Protein processing in endoplasmic reticulum, organism-specific biosystem (from KEGG)
    Protein processing in endoplasmic reticulum, organism-specific biosystemThe endoplasmic reticulum (ER) is a subcellular organelle where proteins are folded with the help of lumenal chaperones. Newly synthesized peptides enter the ER via the sec61 pore and are glycosylate...
  • Protein processing in endoplasmic reticulum, conserved biosystem (from KEGG)
    Protein processing in endoplasmic reticulum, conserved biosystemThe endoplasmic reticulum (ER) is a subcellular organelle where proteins are folded with the help of lumenal chaperones. Newly synthesized peptides enter the ER via the sec61 pore and are glycosylate...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by Hedgehog, organism-specific biosystem (from REACTOME)
    Signaling by Hedgehog, organism-specific biosystemHedgehog (Hh) is a secreted morphogen that regulates developmental processes in vertebrates including limb bud formation, neural tube patterning, cell growth and differentiation (reviewed in Hui and ...
  • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
    Transmembrane transport of small molecules, organism-specific biosystem
    Transmembrane transport of small molecules

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ34899

Gene Ontology Provided by GOA

Function Evidence Code Pubs
misfolded protein binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitin-specific protease binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
endoplasmic reticulum mannose trimming TAS
Traceable Author Statement
more info
 
endoplasmic reticulum unfolded protein response IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum unfolded protein response IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of retrograde protein transport, ER to cytosol IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cell growth IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
retrograde protein transport, ER to cytosol IMP
Inferred from Mutant Phenotype
more info
PubMed 
suckling behavior IEA
Inferred from Electronic Annotation
more info
 
ubiquitin-dependent ERAD pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ubiquitin-dependent ERAD pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
Hrd1p ubiquitin ligase ERAD-L complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
early endosome IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
endoplasmic reticulum quality control compartment IEA
Inferred from Electronic Annotation
more info
 
integral component of endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
late endosome IEA
Inferred from Electronic Annotation
more info
 
membrane HDA PubMed 
colocalizes_with signal recognition particle IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with signal recognition particle receptor complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
derlin-2
Names
Der1-like domain family, member 2
carcinoma related
degradation in endoplasmic reticulum protein 2

NCBI Reference Sequences (RefSeq)

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_001304777.2NP_001291706.1  derlin-2 isoform b

    See identical proteins and their annotated locations for NP_001291706.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in an isoform (b) that is 1 aa shorter than isoform a.
    Source sequence(s)
    AC004148, BM675359, CN362881, HY051246
    Conserved Domains (1) summary
    pfam04511
    Location:13202
    DER1; Der1-like family
  2. NM_001304779.2NP_001291708.1  derlin-2 isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks three alternate exons in the central coding region, resulting in a frameshift and a shorter 3' coding region, compared to variant 1. The encoded isoform (c) has a distinct C-terminus and is significantly shorter than isoform a.
    Source sequence(s)
    AC004148, AF242523, BM675359, BU199049, HY051246
    Consensus CDS
    CCDS76927.1
    UniProtKB/Swiss-Prot
    Q9GZP9
    UniProtKB/TrEMBL
    I3L3R8
    Related
    ENSP00000460671.1, ENST00000572834.5
    Conserved Domains (1) summary
    cl21536
    Location:1362
    Rhomboid; Rhomboid family
  3. NM_016041.5NP_057125.2  derlin-2 isoform a

    See identical proteins and their annotated locations for NP_057125.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    AC004148, AF242523, BM675359, HY051246
    Consensus CDS
    CCDS11073.1
    UniProtKB/Swiss-Prot
    Q9GZP9
    Related
    ENSP00000158771.4, ENST00000158771.9
    Conserved Domains (1) summary
    pfam04511
    Location:13203
    DER1; Der1-like family

RNA

  1. NR_130905.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) uses an alternate splice site in the 5' terminal exon and lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC004148, AF242523, BG110482, BM675359
  2. NR_130906.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC004148, AF242523, BM675359, CN362882, HY051246

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    5471254..5486225 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_002958016.1 RNA Sequence

  2. XR_002958015.1 RNA Sequence

  3. XR_001752523.1 RNA Sequence

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