Gene
UNC13D
unc-13 homolog D
- HGNC 23147(opens in a new tab)
- Ensembl gene ENSG00000092929(opens in a new tab)
- NCBI Gene 201294(opens in a new tab)
Summary
- Cytogenetic location
- 17q25.3
- Coordinates
- Chromosome 17: 75,827,225–75,844,404 (GRCh38)
- Exons
- 32 exons across 17.2 kb
- Protein
- 1,090 amino acids
- Inheritance
- Autosomal recessive
- Also known as
- Munc13-4
- MANE Select transcript
- ENST00000207549.9NM_199242.3
- 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
Familial Hemophagocytic Lymphohistiocytosis
- Familial hemophagocytic lymphohistiocytosis type 3 (UNC13D)Autosomal recessive
Caused by changes in the UNC13D gene, which immune cells need to release the contents of their killing granules.
- ClinGen rates the link definitive
- 5 GenCC submitters rate it definitive or strong
What knowing changes
Early recognition allows prompt treatment and planning for a stem cell transplant, which is the only cure.
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
- 5 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 UNC13D 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 4.1 kb of the gene's 17.2 kb; 3,273 of those bases code for the protein.
How a genome test reads UNC13D
181
positions in UNC13D 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 17.2 kb of UNC13D, introns included, not only the 4.1 kb of exons.
Traits linked to UNC13D
The Human Phenotype Ontology lists these as features of the rare conditions UNC13D can cause. Each trait's page lists the other genes linked to it.
Abnormality of the immune system
- Abnormal circulating cytokine concentration
- Abnormality of tumor necrosis factor secretion
- Immune dysregulation
- Increased circulating interferon-gamma concentration
- Increased circulating interleukin 6 concentration
- Red scaly skin caused by inflammatory skin disease
- Skin rash
- Brain inflammation
Show 1 more trait
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.). UNC13D gene: unc-13 homolog D. Retrieved 16 October 2026, from https://dantelabs.com/genes/unc13d
Dante Labs. UNC13D gene: unc-13 homolog D [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/unc13d
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