Gene
SP110
SP110 nuclear body protein
- HGNC 5401(opens in a new tab)
- Ensembl gene ENSG00000135899(opens in a new tab)
- NCBI Gene 3431(opens in a new tab)
Summary
- Cytogenetic location
- 2q37.1
- Coordinates
- Chromosome 2: 230,165,186–230,219,984 (GRCh38)
- Exons
- 19 exons across 54.8 kb
- Protein
- 713 amino acids
- Inheritance
- Autosomal recessive
- Previous symbols
- IFI41, IFI75
- MANE Select transcript
- ENST00000258381.11NM_080424.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome TestCurated reports relevant to this gene
Hepatic Veno-Occlusive Disease with Immunodeficiency (VODI)
- Hepatic veno-occlusive disease with immunodeficiencyAutosomal recessive
A combined immune deficiency with low antibody levels and liver vein blockage, leading to severe infections and liver failure if untreated.
- ClinGen rates the link definitive
- 3 GenCC submitters rate it definitive or strong
What knowing changes
Early antibody replacement therapy and preventive treatment against Pneumocystis infection can be life-saving.
Broader groupings
Other Inborn Errors of Immunity
- Inborn error of immunity
One of 114 genes linked to it
Inherited disorders of the immune system caused by changes in single genes, affecting how the body fights infection or regulates inflammation.
- ClinGen rates the link definitive
- 3 GenCC submitters rate it definitive or strong
Inheritance
- Autosomal recessive
- It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.
How SP110 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 6.2 kb of the gene's 54.8 kb; 2,142 of those bases code for the protein.
How a genome test reads SP110
39
positions in SP110 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 54.8 kb of SP110, introns included, not only the 6.2 kb of exons.
Traits linked to SP110
The Human Phenotype Ontology lists these as features of the rare conditions SP110 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the immune system
- Abnormal circulating interferon-gamma concentration
- Abnormal circulating interleukin concentration
- Recurrent enteroviral infections
- Recurrent respiratory infections
- Recurrent viral infections
- Recurrent abscess formation
- Recurrent aspiration pneumonia
- Recurrent ear infections
Show 2 more traits
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). SP110 gene: SP110 nuclear body protein. Retrieved 17 October 2026, from https://dantelabs.com/genes/sp110
Dante Labs. SP110 gene: SP110 nuclear body protein [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/sp110
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