Identity
HGNC
LOCATION
17q25.1
LOCUSID
ALIAS
FHL3,HLH3,HPLH3,Munc13-4
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 201294
MIM: 608897
HGNC: 23147
Ensembl: ENSG00000092929
Variants:
dbSNP: 201294
ClinVar: 201294
TCGA: ENSG00000092929
COSMIC: UNC13D
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Immune System | REACTOME | R-HSA-168256 |
| Innate Immune System | REACTOME | R-HSA-168249 |
| Neutrophil degranulation | REACTOME | R-HSA-6798695 |
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA166182763 | emapalumab | Chemical | LabelAnnotation | associated |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35293882 | 2022 | Familial Hemophagocytic Lymphohistiocytosis With Heterozygous STX11 and Homozygous UNC13D Mutations Diagnosed in the Neonatal Period. | 0 |
| 35293882 | 2022 | Familial Hemophagocytic Lymphohistiocytosis With Heterozygous STX11 and Homozygous UNC13D Mutations Diagnosed in the Neonatal Period. | 0 |
| 33867526 | 2021 | Germline variants in UNC13D and AP3B1 are enriched in COVID-19 patients experiencing severe cytokine storms. | 15 |
| 34339548 | 2021 | Spectrum mutations of PRF1, UNC13D, STX11, and STXBP2 genes in Vietnamese patients with hemophagocytic lymphohistiocytosis. | 3 |
| 33867526 | 2021 | Germline variants in UNC13D and AP3B1 are enriched in COVID-19 patients experiencing severe cytokine storms. | 15 |
| 34339548 | 2021 | Spectrum mutations of PRF1, UNC13D, STX11, and STXBP2 genes in Vietnamese patients with hemophagocytic lymphohistiocytosis. | 3 |
| 31651726 | 2020 | Different Clinical Presentation of 3 Children With Familial Hemophagocytic Lymphohistiocytosis With 2 Novel Mutations. | 2 |
| 32253931 | 2020 | Lentiviral Gene Therapy for Familial Hemophagocytic Lymphohistiocytosis Type 3, Caused by UNC13D Genetic Defects. | 6 |
| 32582217 | 2020 | Alternative UNC13D Promoter Encodes a Functional Munc13-4 Isoform Predominantly Expressed in Lymphocytes and Platelets. | 2 |
| 33093239 | 2020 | Unc-13 homolog D mediates an antiviral effect of the chromosome 19 microRNA cluster miR-517a. | 3 |
| 31651726 | 2020 | Different Clinical Presentation of 3 Children With Familial Hemophagocytic Lymphohistiocytosis With 2 Novel Mutations. | 2 |
| 32253931 | 2020 | Lentiviral Gene Therapy for Familial Hemophagocytic Lymphohistiocytosis Type 3, Caused by UNC13D Genetic Defects. | 6 |
| 32582217 | 2020 | Alternative UNC13D Promoter Encodes a Functional Munc13-4 Isoform Predominantly Expressed in Lymphocytes and Platelets. | 2 |
| 33093239 | 2020 | Unc-13 homolog D mediates an antiviral effect of the chromosome 19 microRNA cluster miR-517a. | 3 |
| 30758854 | 2019 | Haploinsufficiency of UNC13D increases the risk of lymphoma. | 4 |
Citation
Dessen P
UNC13D (unc-13 homolog D)
Atlas Genet Cytogenet Oncol Haematol. 2011-06-01
Online version: http://atlasgeneticsoncology.org/gene/52261
