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

Gene ID: 129563, updated on 6-Sep-2022

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; AllianceGenome:HGNC:28648
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
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Genomic context

See DIS3L2 in Genome Data Viewer
Location:
2q37.1
Exon count:
21
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (231961713..232344350)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (232448342..232831055)
105.20220307 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 Sharpr-MPRA regulatory region 7061 Neighboring gene microRNA 562 Neighboring gene Sharpr-MPRA regulatory region 824 Neighboring gene uncharacterized LOC124906123 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
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

EBI GWAS Catalog

Description
A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci.
EBI GWAS Catalog
A genome-wide association study of northwestern Europeans involves the C-type natriuretic peptide signaling pathway in the etiology of human height variation.
EBI GWAS Catalog
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
EBI GWAS Catalog
Many sequence variants affecting diversity of adult human height.
EBI GWAS Catalog
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
EBI GWAS Catalog

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, Q8N9K9
    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 Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    232448342..232831055
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)