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    DIS3L2 DIS3 like 3'-5' exoribonuclease 2 [ Homo sapiens (human) ]

    Gene ID: 129563, updated on 4-Jul-2021

    Summary

    Official Symbol
    DIS3L2provided by HGNC
    Official Full Name
    DIS3 like 3'-5' exoribonuclease 2provided by HGNC
    Primary source
    HGNC:HGNC:28648
    See related
    Ensembl:ENSG00000144535 MIM:614184
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FAM6A; PRLMNS; hDIS3L2
    Summary
    The protein encoded by this gene is similar in sequence to 3'/5' exonucleolytic subunits of the RNA exosome. The exosome is a large multimeric ribonucleotide complex responsible for degrading various RNA substrates. Several transcript variants, some protein-coding and some not, have been found for this gene. [provided by RefSeq, Mar 2012]
    Expression
    Ubiquitous expression in testis (RPKM 5.8), thyroid (RPKM 4.3) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See DIS3L2 in Genome Data Viewer
    Location:
    2q37.1
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (231961713..232344350)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (232826423..233209060)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene microRNA 1471 Neighboring gene natriuretic peptide C Neighboring gene microRNA 562 Neighboring gene NRBF2 pseudogene 6 Neighboring gene endothelin converting enzyme like 1 pseudogene 3 Neighboring gene alkaline phosphatase, placental

    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?

    Phenotypes

    Associated conditions

    Description Tests
    A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci.
    GeneReviews: Not available
    A genome-wide association study of northwestern Europeans involves the C-type natriuretic peptide signaling pathway in the etiology of human height variation.
    GeneReviews: Not available
    Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
    GeneReviews: Not available
    Many sequence variants affecting diversity of adult human height.
    GeneReviews: Not available
    Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
    GeneReviews: Not available
    Perlman syndrome
    MedGen: C0796113 OMIM: 267000 GeneReviews: Wilms Tumor Predisposition
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2020-10-14)

    ClinGen Genome Curation Page
    Haploinsufficency

    Little evidence for dosage pathogenicity (Last evaluated 2020-10-14)

    ClinGen Genome Curation PagePubMed

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ36974, MGC42174

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 3'-5'-exoribonuclease activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables 3'-5'-exoribonuclease activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables magnesium ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables poly(U) RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables ribonuclease activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in RNA phosphodiester bond hydrolysis, exonucleolytic IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell division IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mRNA catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in miRNA catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in miRNA catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in miRNA catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in mitotic cell cycle IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in mitotic sister chromatid separation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of cell population proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in nuclear-transcribed mRNA catabolic process, exonucleolytic IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in nuclear-transcribed mRNA catabolic process, exonucleolytic, 3'-5' IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in polyuridylation-dependent mRNA catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in stem cell population maintenance ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    is_active_in P-body IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in P-body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of exosome (RNase complex) IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of polysome TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    DIS3-like exonuclease 2
    Names
    DIS3 mitotic control homolog-like 2
    family with sequence similarity 6, member A

    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.

    Genomic

    1. NG_032572.1 RefSeqGene

      Range
      5001..387386
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_534

    mRNA and Protein(s)

    1. NM_001257281.2NP_001244210.1  DIS3-like exonuclease 2 isoform 2

      See identical proteins and their annotated locations for NP_001244210.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks several exons and includes an alternate 3' terminal exon compared to variant 1. It encodes isoform 2, which is shorter and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC068134, AK094293
      Consensus CDS
      CCDS58752.1
      UniProtKB/Swiss-Prot
      Q8IYB7
      Related
      ENSP00000273009.6, ENST00000273009.10
      Conserved Domains (2) summary
      pfam00773
      Location:371512
      RNB; RNB domain
      pfam08961
      Location:527601
      DUF1875; Domain of unknown function (DUF1875)
    2. NM_001257282.2NP_001244211.1  DIS3-like exonuclease 2 isoform 3

      See identical proteins and their annotated locations for NP_001244211.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks several exons and its transcription extends past a splice site that is used in variant 1, resulting in a novel 3' coding region and 3' UTR compared to variant 1. It encodes isoform 3, which is shorter and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC019130, AC138658, AF443854
      Consensus CDS
      CCDS58753.1
      UniProtKB/Swiss-Prot
      Q8IYB7
      Related
      ENSP00000386594.3, ENST00000409401.7
      Conserved Domains (1) summary
      COG0557
      Location:68122
      VacB; Exoribonuclease R [Transcription]
    3. NM_152383.5NP_689596.4  DIS3-like exonuclease 2 isoform 1

      See identical proteins and their annotated locations for NP_689596.4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      BC036113, BG746662, BM128478, DA058505
      Consensus CDS
      CCDS42834.1
      UniProtKB/Swiss-Prot
      Q8IYB7
      Related
      ENSP00000315569.7, ENST00000325385.12
      Conserved Domains (2) summary
      COG0557
      Location:226812
      VacB; Exoribonuclease R [Transcription]
      pfam00773
      Location:371719
      RNB; RNB domain

    RNA

    1. NR_046476.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate splice site in an internal exon compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region found in variant 1.
      Source sequence(s)
      AA781347, AK094293, AW589919, BC026166, BX648325
      Related
      ENST00000390005.9
    2. NR_046477.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) has a longer internal exon and lacks a 3' intron compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region found in variant 1.
      Source sequence(s)
      AA781347, AC068134, AC138658, AK094293, AW589919, BC026166, BX648325

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

      Range
      231961713..232344350
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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