DNASE1L3 deoxyribonuclease 1L3
Gene ID: 1776, updated on 17-Jun-2024Gene type: protein coding
Also known as: D3; LSD; DHP2; SLEB16; DNAS1L3
- See all available tests in GTR for this gene
- Go to complete Gene record for DNASE1L3
- Go to Variation Viewer for DNASE1L3 variants
Summary
This gene encodes a member of the deoxyribonuclease I family. The encoded protein hydrolyzes DNA, is not inhibited by actin, and mediates the breakdown of DNA during apoptosis. Mutations in this gene are a cause of systemic lupus erythematosus-16. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Autosomal systemic lupus erythematosus type 16 | See labs |
Genetic variants associated with disordered eating. GeneReviews: Not available | |
Genetics of rheumatoid arthritis contributes to biology and drug discovery. GeneReviews: Not available |
Genomic context
- Location:
- 3p14.3
- Sequence:
- Chromosome: 3; NC_000003.12 (58192257..58210972, complement)
- Total number of exons:
- 8
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for DNASE1L3 variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- 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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