Identity
HGNC
LOCATION
7q11.21
LOCUSID
ALIAS
CGI-97,SDO1,SDS,SWDS
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: 51119
MIM: 607444
HGNC: 19440
Ensembl: ENSG00000126524
Variants:
dbSNP: 51119
ClinVar: 51119
TCGA: ENSG00000126524
COSMIC: SBDS
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000126524 | ENST00000246868 | Q9Y3A5 |
| ENSG00000126524 | ENST00000246868 | A0A0S2Z5I7 |
| ENSG00000126524 | ENST00000414306 | F8WE72 |
| ENSG00000126524 | ENST00000617799 | A0A087X020 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Ribosome biogenesis in eukaryotes | KEGG | ko03008 |
| Ribosome biogenesis in eukaryotes | KEGG | hsa03008 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38240987 | 2024 | Knockdown of the Shwachman-Diamond syndrome gene, SBDS, induces galectin-1 expression and impairs cell growth. | 0 |
| 38240987 | 2024 | Knockdown of the Shwachman-Diamond syndrome gene, SBDS, induces galectin-1 expression and impairs cell growth. | 0 |
| 37806249 | 2023 | M phase-specific interaction between SBDS and RNF2 at the mitotic spindles regulates mitotic progression. | 0 |
| 37806249 | 2023 | M phase-specific interaction between SBDS and RNF2 at the mitotic spindles regulates mitotic progression. | 0 |
| 35158210 | 2022 | SBDS interacts with RNF2 and is degraded through RNF2-dependent ubiquitination. | 0 |
| 35887285 | 2022 | A Comparative Molecular Dynamics Study of Selected Point Mutations in the Shwachman-Bodian-Diamond Syndrome Protein SBDS. | 2 |
| 35158210 | 2022 | SBDS interacts with RNF2 and is degraded through RNF2-dependent ubiquitination. | 0 |
| 35887285 | 2022 | A Comparative Molecular Dynamics Study of Selected Point Mutations in the Shwachman-Bodian-Diamond Syndrome Protein SBDS. | 2 |
| 34413298 | 2021 | Somatic genetic rescue of a germline ribosome assembly defect. | 26 |
| 34413298 | 2021 | Somatic genetic rescue of a germline ribosome assembly defect. | 26 |
| 32198344 | 2020 | Dual regulation of p53 by the ribosome maturation factor SBDS. | 16 |
| 32269318 | 2020 | Shwachman-Bodian-Diamond syndrome (SBDS) protein is a direct inhibitor of protein phosphatase 2A (PP2A) activity and overexpressed in acute myeloid leukaemia. | 9 |
| 32293785 | 2020 | Inflammatory manifestations in patients with Shwachman-Diamond syndrome: A novel phenotype. | 6 |
| 32198344 | 2020 | Dual regulation of p53 by the ribosome maturation factor SBDS. | 16 |
| 32269318 | 2020 | Shwachman-Bodian-Diamond syndrome (SBDS) protein is a direct inhibitor of protein phosphatase 2A (PP2A) activity and overexpressed in acute myeloid leukaemia. | 9 |
Citation
Dessen P
SBDS (SBDS ribosome maturation factor)
Atlas Genet Cytogenet Oncol Haematol. 2004-03-01
Online version: http://atlasgeneticsoncology.org/gene/42207/
