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: 23111
MIM: 607111
HGNC: 18514
Ensembl: ENSG00000133104
Variants:
dbSNP: 23111
ClinVar: 23111
TCGA: ENSG00000133104
COSMIC: SPART
RNA/Proteins
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Endocytosis | KEGG | ko04144 |
| Endocytosis | KEGG | hsa04144 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38503285 | 2024 | Lysosomal damage sensing and lysophagy initiation by SPG20-ITCH. | 2 |
| 38503285 | 2024 | Lysosomal damage sensing and lysophagy initiation by SPG20-ITCH. | 2 |
| 34751409 | 2022 | KLF4, DAPK1 and SPG20 promoter methylation is not affected by DNMT1 silencing and hypomethylating drugs in lymphoma cells. | 5 |
| 35389570 | 2022 | Spastic Paraplegia 20 and Serine/Threonine Protein Kinase 31 Expression for the Detection of Colorectal Cancer. | 1 |
| 34751409 | 2022 | KLF4, DAPK1 and SPG20 promoter methylation is not affected by DNMT1 silencing and hypomethylating drugs in lymphoma cells. | 5 |
| 35389570 | 2022 | Spastic Paraplegia 20 and Serine/Threonine Protein Kinase 31 Expression for the Detection of Colorectal Cancer. | 1 |
| 31109594 | 2019 | Aberrant methylation status of SPG20 promoter in hepatocellular carcinoma: A potential tumor metastasis biomarker. | 3 |
| 31314595 | 2019 | A novel mutation in SPART gene causes a severe neurodevelopmental delay due to mitochondrial dysfunction with complex I impairments and altered pyruvate metabolism. | 6 |
| 31109594 | 2019 | Aberrant methylation status of SPG20 promoter in hepatocellular carcinoma: A potential tumor metastasis biomarker. | 3 |
| 31314595 | 2019 | A novel mutation in SPART gene causes a severe neurodevelopmental delay due to mitochondrial dysfunction with complex I impairments and altered pyruvate metabolism. | 6 |
| 29673586 | 2018 | Methylation-induced silencing of SPG20 facilitates gastric cancer cell proliferation by activating the EGFR/MAPK pathway. | 11 |
| 29673586 | 2018 | Methylation-induced silencing of SPG20 facilitates gastric cancer cell proliferation by activating the EGFR/MAPK pathway. | 11 |
| 28679690 | 2017 | SPG20 mutation in three siblings with familial hereditary spastic paraplegia. | 6 |
| 28679690 | 2017 | SPG20 mutation in three siblings with familial hereditary spastic paraplegia. | 6 |
| 25942454 | 2015 | Chromosome mis-segregation and cytokinesis failure in trisomic human cells. | 53 |
Citation
Dessen P
SPART (spartin)
Atlas Genet Cytogenet Oncol Haematol. 2017-08-01
Online version: http://atlasgeneticsoncology.org/gene/56978/spart-(spartin)
