Identity
HGNC
LOCATION
16q22.1
LOCUSID
ALIAS
ArPIKfyve,TAX1BP2,TRX
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: 55697
MIM: 604632
HGNC: 25507
Ensembl: ENSG00000103043
Variants:
dbSNP: 55697
ClinVar: 55697
TCGA: ENSG00000103043
COSMIC: VAC14
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA445425 | Prostatic Neoplasms | Disease | ClinicalAnnotation | associated | PD | ||
| PA449383 | docetaxel | Chemical | ClinicalAnnotation | associated | PD |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37247911 | 2023 | TIG1 Inhibits the mTOR Signaling Pathway in Malignant Melanoma Through the VAC14 Protein. | 1 |
| 37247911 | 2023 | TIG1 Inhibits the mTOR Signaling Pathway in Malignant Melanoma Through the VAC14 Protein. | 1 |
| 34554760 | 2021 | Proximity Interactome Map of the Vac14-Fig4 Complex Using BioID. | 3 |
| 34554760 | 2021 | Proximity Interactome Map of the Vac14-Fig4 Complex Using BioID. | 3 |
| 31876398 | 2020 | Novel VAC14 variants identified in two Chinese siblings with childhood-onset striatonigral degeneration. | 6 |
| 32949958 | 2020 | Altered homodimer formation and increased iron accumulation in VAC14-related disease: Case report and review of the literature. | 4 |
| 31876398 | 2020 | Novel VAC14 variants identified in two Chinese siblings with childhood-onset striatonigral degeneration. | 6 |
| 32949958 | 2020 | Altered homodimer formation and increased iron accumulation in VAC14-related disease: Case report and review of the literature. | 4 |
| 31591492 | 2019 | Homozygous variant, p.(Arg643Trp) in VAC14 causes striatonigral degeneration: report of a novel variant and review of VAC14-related disorders. | 5 |
| 31591492 | 2019 | Homozygous variant, p.(Arg643Trp) in VAC14 causes striatonigral degeneration: report of a novel variant and review of VAC14-related disorders. | 5 |
| 29187380 | 2018 | Nbeal2 interacts with Dock7, Sec16a, and Vac14. | 11 |
| 30066585 | 2018 | Nephron-specific knockin of the PIKfyve-binding-deficient Vac14(L156R) mutant results in albuminuria and mesangial expansion. | 1 |
| 29187380 | 2018 | Nbeal2 interacts with Dock7, Sec16a, and Vac14. | 11 |
| 30066585 | 2018 | Nephron-specific knockin of the PIKfyve-binding-deficient Vac14(L156R) mutant results in albuminuria and mesangial expansion. | 1 |
| 28635952 | 2017 | Yunis-Varón syndrome caused by biallelic VAC14 mutations. | 11 |
Citation
Dessen P
VAC14 (VAC14 component of PIKFYVE complex)
Atlas Genet Cytogenet Oncol Haematol. 2003-12-01
Online version: http://atlasgeneticsoncology.org/gene/53316/vac14-(vac14-component-of-pikfyve-complex)
