SON (SON DNA and RNA binding protein)

2003-11-01  

Identity

HGNC
LOCATION
21q22.11
LOCUSID
ALIAS
BASS1,C21orf50,DBP-5,NREBP,SON3,TOKIMS
FUSION GENES

Other Information

Locus ID:

NCBI: 6651
MIM: 182465
HGNC: 11183
Ensembl: ENSG00000159140

Variants:

dbSNP: 6651
ClinVar: 6651
TCGA: ENSG00000159140
COSMIC: SON

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000159140ENST00000300278P18583
ENSG00000159140ENST00000356577P18583
ENSG00000159140ENST00000381679P18583
ENSG00000159140ENST00000381692J3QSZ5
ENSG00000159140ENST00000421541H7C2G8
ENSG00000159140ENST00000429093H7C1S4
ENSG00000159140ENST00000436227H7C1M2
ENSG00000159140ENST00000455528P18583
ENSG00000159140ENST00000457208H7C257

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
374887492023Expanding the mutational spectrum of ZTTK syndrome: A de novo variant with global developmental delay and malnutrition in a Chinese patient.1
380650692023SON is an essential m(6)A target for hematopoietic stem cell fate.0
374887492023Expanding the mutational spectrum of ZTTK syndrome: A de novo variant with global developmental delay and malnutrition in a Chinese patient.1
380650692023SON is an essential m(6)A target for hematopoietic stem cell fate.0
345219992022Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON.16
345219992022Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON.16
332472272021SON inhibits megakaryocytic differentiation via repressing RUNX1 and the megakaryocytic gene expression program in acute megakaryoblastic leukemia.4
343313272021ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature.10
344067922021The SON RNA splicing factor is required for intracellular trafficking structures that promote centriole assembly and ciliogenesis.2
345484892021SON drives oncogenic RNA splicing in glioblastoma by regulating PTBP1/PTBP2 switching and RBFOX2 activity.21
332472272021SON inhibits megakaryocytic differentiation via repressing RUNX1 and the megakaryocytic gene expression program in acute megakaryoblastic leukemia.4
343313272021ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature.10
344067922021The SON RNA splicing factor is required for intracellular trafficking structures that promote centriole assembly and ciliogenesis.2
345484892021SON drives oncogenic RNA splicing in glioblastoma by regulating PTBP1/PTBP2 switching and RBFOX2 activity.21
324842342020SON 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/haematological-explorer/js/lib/bootstrap.min.js