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
215048302011SON controls cell-cycle progression by coordinated regulation of RNA splicing.52
200536862010Son is essential for nuclear speckle organization and cell cycle progression.41
240132172013SON connects the splicing-regulatory network with pluripotency in human embryonic stem cells.35
291335882017Quantitative analysis of multilayer organization of proteins and RNA in nuclear speckles at super resolution.33
189528412008Disruption of the NHR4 domain structure in AML1-ETO abrogates SON binding and promotes leukemogenesis.25
221939542011Son maintains accurate splicing for a subset of human pre-mRNAs.21
205814482010SON is a spliceosome-associated factor required for mitotic progression.17
269909892016SON and Its Alternatively Spliced Isoforms Control MLL Complex-Mediated H3K4me3 and Transcription of Leukemia-Associated Genes.16
275456802016De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.12
233227762013SON protein regulates GATA-2 through transcriptional control of the microRNA 23a~27a~24-2 cluster.10

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