DIS3L2 DIS3 like 3'-5' exoribonuclease 2
Gene ID: 129563, updated on 4-Jan-2025Gene type: protein coding
Also known as: FAM6A; PRLMNS; hDIS3L2
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- Go to complete Gene record for DIS3L2
- Go to Variation Viewer for DIS3L2 variants
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]
Associated conditions
See all available tests in GTR for this gene
| 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 | See labs |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2020-10-14) ClinGen Genome Curation PageHaploinsufficency Little evidence for dosage pathogenicity (Last evaluated 2020-10-14) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 2q37.1
- Sequence:
- Chromosome: 2; NC_000002.12 (231961713..232344350)
- Total number of exons:
- 21
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for DIS3L2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- DIS3L2 @ LOVD
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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