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DERL2 derlin 2 [ Homo sapiens (human) ]

Gene ID: 51009, updated on 7-Jun-2020

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
109.20200522 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 PubChem

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 
viral process IEA
Inferred from Electronic Annotation
more info
 
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 Updated Annotation Release 109.

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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