SON (SON DNA and RNA binding protein)

2003-11-01  

Identity

HGNC
SON
LOCATION
21q22.11
LOCUSID
6651
ALIAS
BASS1,C21orf50,DBP-5,NREBP,SON3,TOKIMS
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

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/css/deep-insight-explorer/