Identity
HGNC
LOCATION
21q22.11
LOCUSID
ALIAS
BASS1,C21orf50,DBP-5,NREBP,SON3,TOKIMS
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: 6651
MIM: 182465
HGNC: 11183
Ensembl: ENSG00000159140
Variants:
dbSNP: 6651
ClinVar: 6651
TCGA: ENSG00000159140
COSMIC: SON
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37488749 | 2023 | Expanding the mutational spectrum of ZTTK syndrome: A de novo variant with global developmental delay and malnutrition in a Chinese patient. | 1 |
| 38065069 | 2023 | SON is an essential m(6)A target for hematopoietic stem cell fate. | 0 |
| 37488749 | 2023 | Expanding the mutational spectrum of ZTTK syndrome: A de novo variant with global developmental delay and malnutrition in a Chinese patient. | 1 |
| 38065069 | 2023 | SON is an essential m(6)A target for hematopoietic stem cell fate. | 0 |
| 34521999 | 2022 | Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON. | 16 |
| 34521999 | 2022 | Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON. | 16 |
| 33247227 | 2021 | SON inhibits megakaryocytic differentiation via repressing RUNX1 and the megakaryocytic gene expression program in acute megakaryoblastic leukemia. | 4 |
| 34331327 | 2021 | ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature. | 10 |
| 34406792 | 2021 | The SON RNA splicing factor is required for intracellular trafficking structures that promote centriole assembly and ciliogenesis. | 2 |
| 34548489 | 2021 | SON drives oncogenic RNA splicing in glioblastoma by regulating PTBP1/PTBP2 switching and RBFOX2 activity. | 21 |
| 33247227 | 2021 | SON inhibits megakaryocytic differentiation via repressing RUNX1 and the megakaryocytic gene expression program in acute megakaryoblastic leukemia. | 4 |
| 34331327 | 2021 | ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature. | 10 |
| 34406792 | 2021 | The SON RNA splicing factor is required for intracellular trafficking structures that promote centriole assembly and ciliogenesis. | 2 |
| 34548489 | 2021 | SON drives oncogenic RNA splicing in glioblastoma by regulating PTBP1/PTBP2 switching and RBFOX2 activity. | 21 |
| 32484234 | 2020 | SON DNA-binding protein mediates macrophage autophagy and responses to intracellular infection. | 4 |
Citation
Dessen P
SON (SON DNA and RNA binding protein)
Atlas Genet Cytogenet Oncol Haematol. 2003-11-01
Online version: http://atlasgeneticsoncology.org/gene/42354/son
