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: 23025
MIM: 609894
HGNC: 23150
Ensembl: ENSG00000130477
Variants:
dbSNP: 23025
ClinVar: 23025
TCGA: ENSG00000130477
COSMIC: UNC13A
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000130477 | ENST00000519716 | Q9UPW8 |
| ENSG00000130477 | ENST00000550896 | F8VZH8 |
| ENSG00000130477 | ENST00000551649 | F8W059 |
| ENSG00000130477 | ENST00000552293 | F8W0P6 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Synaptic vesicle cycle | KEGG | ko04721 |
| Synaptic vesicle cycle | KEGG | hsa04721 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38175301 | 2024 | Cryptic splicing of stathmin-2 and UNC13A mRNAs is a pathological hallmark of TDP-43-associated Alzheimer's disease. | 5 |
| 38175301 | 2024 | Cryptic splicing of stathmin-2 and UNC13A mRNAs is a pathological hallmark of TDP-43-associated Alzheimer's disease. | 5 |
| 37887320 | 2023 | Interaction of the C9orf72-Amyotrophic Lateral Sclerosis-Related Proline-Arginine Dipeptide Repeat Protein with the RNA-Binding Protein NOVA1 Causes Decreased Expression of UNC13A Due to Enhanced Inclusion of Cryptic Exons, Which Is Reversed by Betulin Treatment. | 0 |
| 37887320 | 2023 | Interaction of the C9orf72-Amyotrophic Lateral Sclerosis-Related Proline-Arginine Dipeptide Repeat Protein with the RNA-Binding Protein NOVA1 Causes Decreased Expression of UNC13A Due to Enhanced Inclusion of Cryptic Exons, Which Is Reversed by Betulin Treatment. | 0 |
| 35197626 | 2022 | TDP-43 represses cryptic exon inclusion in the FTD-ALS gene UNC13A. | 163 |
| 35197628 | 2022 | TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A. | 137 |
| 35197626 | 2022 | TDP-43 represses cryptic exon inclusion in the FTD-ALS gene UNC13A. | 163 |
| 35197628 | 2022 | TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A. | 137 |
| 33818064 | 2021 | Probing the Diacylglycerol Binding Site of Presynaptic Munc13-1. | 2 |
| 33818064 | 2021 | Probing the Diacylglycerol Binding Site of Presynaptic Munc13-1. | 2 |
| 32627229 | 2020 | The Distinct Traits of the UNC13A Polymorphism in Amyotrophic Lateral Sclerosis. | 18 |
| 32627229 | 2020 | The Distinct Traits of the UNC13A Polymorphism in Amyotrophic Lateral Sclerosis. | 18 |
| 30368160 | 2019 | UNC13A polymorphism contributes to frontotemporal disease in sporadic amyotrophic lateral sclerosis. | 21 |
| 31201598 | 2019 | UNC13A variant rs12608932 is associated with increased risk of amyotrophic lateral sclerosis and reduced patient survival: a meta-analysis. | 16 |
| 30368160 | 2019 | UNC13A polymorphism contributes to frontotemporal disease in sporadic amyotrophic lateral sclerosis. | 21 |
Citation
Dessen P
UNC13A (unc-13 homolog A)
Atlas Genet Cytogenet Oncol Haematol. 2014-08-01
Online version: http://atlasgeneticsoncology.org/gene/54754/unc13a-(unc-13-homolog-a)
