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    DERL2 derlin 2 [ Homo sapiens (human) ]

    Gene ID: 51009, updated on 28-Oct-2024

    Summary

    Official Symbol
    DERL2provided by HGNC
    Official Full Name
    derlin 2provided by HGNC
    Primary source
    HGNC:HGNC:17943
    See related
    Ensembl:ENSG00000072849 MIM:610304; AllianceGenome:HGNC:17943
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See DERL2 in Genome Data Viewer
    Location:
    17p13.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (5471254..5486817, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (5364997..5380235, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (5374574..5389498, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene DEAH-box helicase 33 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:5371354-5371936 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11575 Neighboring gene DHX33 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11576 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11577 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:5389715-5389882 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11578 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11579 Neighboring gene uncharacterized LOC124900388 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:5403324-5403890 Neighboring gene MIS12 kinetochore complex component Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8072 Neighboring gene uncharacterized LOC728392 Neighboring gene zinc finger CCHC domain-containing protein 9-like Neighboring gene NLR family pyrin domain containing 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    Clone Names

    • FLJ34899

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein-containing complex binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables signal recognition particle binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables signal recognition particle binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in early endosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    located_in late endosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in membrane HDA 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)

    NEW Try the new Transcript table

    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
      UniProtKB/TrEMBL
      I3L0R8
      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/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, Q9Y3A7
      UniProtKB/TrEMBL
      I3L0R8
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      5471254..5486817 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047436186.1XP_047292142.1  derlin-2 isoform X2

    2. XM_047436185.1XP_047292141.1  derlin-2 isoform X1

    3. XM_047436188.1XP_047292144.1  derlin-2 isoform X4

    4. XM_047436187.1XP_047292143.1  derlin-2 isoform X3

    5. XM_047436191.1XP_047292147.1  derlin-2 isoform X6

    6. XM_047436189.1XP_047292145.1  derlin-2 isoform X5

    7. XM_047436192.1XP_047292148.1  derlin-2 isoform X7

    8. XM_047436193.1XP_047292149.1  derlin-2 isoform X8

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      5364997..5380235 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054316338.1XP_054172313.1  derlin-2 isoform X4

    2. XM_054316339.1XP_054172314.1  derlin-2 isoform X7