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Aliases for SON Gene

Aliases for SON Gene

  • SON DNA Binding Protein 2 3
  • Negative Regulatory Element-Binding Protein 2 3 4
  • Bax Antagonist Selected In Saccharomyces 1 2 3 4
  • NRE-Binding Protein 2 3 4
  • C21orf50 3 4
  • BASS1 3 4
  • NREBP 3 4
  • SON3 3 4
  • Protein DBP-5 4
  • Protein SON 3
  • KIAA1019 4
  • DBP-5 3
  • DBP5 4

External Ids for SON Gene

Previous Symbols for SON Gene

  • C21orf50

Summaries for SON Gene

Entrez Gene Summary for SON Gene

  • This gene encodes a protein that contains multiple simple repeats. The encoded protein binds RNA and promotes pre-mRNA splicing, particularly of transcripts with poor splice sites. The protein also recognizes a specific DNA sequence found in the human hepatitis B virus (HBV) and represses HBV core promoter activity. There is a pseudogene for this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

GeneCards Summary for SON Gene

SON (SON DNA Binding Protein) is a Protein Coding gene. Diseases associated with SON include hepatitis b and hepatitis. GO annotations related to this gene include RNA binding and RS domain binding.

UniProtKB/Swiss-Prot for SON Gene

  • RNA-binding protein that acts as a mRNA splicing cofactor by promoting efficient splicing of transcripts that possess weak splice sites. Specifically promotes splicing of many cell-cycle and DNA-repair transcripts that possess weak splice sites, such as TUBG1, KATNB1, TUBGCP2, AURKB, PCNT, AKT1, RAD23A, and FANCG. Probably acts by facilitating the interaction between Serine/arginine-rich proteins such as SRSF2 and the RNA polymerase II. Also binds to DNA; binds to the consensus DNA sequence: 5-GA[GT]AN[CG][AG]CC-3. May indirectly repress hepatitis B virus (HBV) core promoter activity and transcription of HBV genes and production of HBV virions.

Gene Wiki entry for SON Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SON Gene

Genomics for SON Gene

Genomic Location for SON Gene

Start:
33,542,618 bp from pter
End:
33,577,514 bp from pter
Size:
34,897 bases
Orientation:
Plus strand

Genomic View for SON Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SON Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SON Gene

Regulatory Elements for SON Gene

Proteins for SON Gene

  • Protein details for SON Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P18583-SON_HUMAN
    Recommended name:
    Protein SON
    Protein Accession:
    P18583
    Secondary Accessions:
    • D3DSF5
    • D3DSF6
    • E7ETE8
    • E7EU67
    • E7EVW3
    • E9PFQ2
    • O14487
    • O95981
    • Q14120
    • Q6PKE0
    • Q9H7B1
    • Q9P070
    • Q9P072
    • Q9UKP9
    • Q9UPY0

    Protein attributes for SON Gene

    Size:
    2426 amino acids
    Molecular mass:
    263830 Da
    Quaternary structure:
    • Interacts with SRSF2. Associates with the spliceosome. Interacts with the AML1-MTG8 (AML1-ETO) fusion protein, possibly leading to trigger signals inhibiting leukemogenesis.
    SequenceCaution:
    • Sequence=AAH02422.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAA82971.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=CAA44793.1; Type=Frameshift; Positions=2315, 2412, 2417; Evidence={ECO:0000305}; Sequence=CAC69885.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part.; Evidence={ECO:0000305};

    Alternative splice isoforms for SON Gene

neXtProt entry for SON Gene

Proteomics data for SON Gene at MOPED

Post-translational modifications for SON Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys16, Lys2173, and Lys2382

No data available for DME Specific Peptides for SON Gene

Domains for SON Gene

Gene Families for SON Gene

HGNC:
  • GPATCH :G patch domain containing

UniProtKB/Swiss-Prot:

SON_HUMAN
Domain:
  • Contains 8 types of repeats which are distributed in 3 regions:
    • P18583
  • Contains 1 DRBM (double-stranded RNA-binding) domain.:
    • P18583
  • Contains 1 G-patch domain.:
    • P18583
genes like me logo Genes that share domains with SON: view

Function for SON Gene

Molecular function for SON Gene

GENATLAS Biochemistry: DNA binding protein with some homology to c-mos,ubiquitously expressed,involved in chromatin remodeling
UniProtKB/Swiss-Prot Function: RNA-binding protein that acts as a mRNA splicing cofactor by promoting efficient splicing of transcripts that possess weak splice sites. Specifically promotes splicing of many cell-cycle and DNA-repair transcripts that possess weak splice sites, such as TUBG1, KATNB1, TUBGCP2, AURKB, PCNT, AKT1, RAD23A, and FANCG. Probably acts by facilitating the interaction between Serine/arginine-rich proteins such as SRSF2 and the RNA polymerase II. Also binds to DNA; binds to the consensus DNA sequence: 5-GA[GT]AN[CG][AG]CC-3. May indirectly repress hepatitis B virus (HBV) core promoter activity and transcription of HBV genes and production of HBV virions.

Gene Ontology (GO) - Molecular Function for SON Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding TAS 1944255
GO:0003677 DNA binding IEA --
GO:0003723 RNA binding IDA 21504830
GO:0005515 protein binding IPI 21504830
GO:0044822 poly(A) RNA binding IDA 22658674
genes like me logo Genes that share ontologies with SON: view
genes like me logo Genes that share phenotypes with SON: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for SON Gene

Localization for SON Gene

Subcellular locations from UniProtKB/Swiss-Prot for SON Gene

Nucleus speckle. Note=Colocalizes with the pre-mRNA splicing factor SRSF2.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SON Gene COMPARTMENTS Subcellular localization image for SON gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for SON Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005654 nucleoplasm IDA --
GO:0016607 nuclear speck IDA 21504830
genes like me logo Genes that share ontologies with SON: view

Pathways for SON Gene

SuperPathways for SON Gene

No Data Available

Gene Ontology (GO) - Biological Process for SON Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000226 microtubule cytoskeleton organization IMP 21504830
GO:0000910 cytokinesis IMP 21504830
GO:0006397 mRNA processing IDA 21504830
GO:0008380 RNA splicing IEA --
GO:0043066 negative regulation of apoptotic process IDA 10509013
genes like me logo Genes that share ontologies with SON: view

No data available for Pathways by source for SON Gene

Transcripts for SON Gene

Unigene Clusters for SON Gene

SON DNA binding protein:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SON Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b · 13c ^ 14a · 14b ^ 15a · 15b ^ 16 ^ 17a · 17b · 17c ^ 18a ·
SP1: - - - -
SP2: - - - -
SP3: - - -
SP4: -
SP5: -
SP6:
SP7:
SP8:
SP9: -
SP10: -
SP11:
SP12: -
SP13:
SP14:
SP15:

ExUns: 18b · 18c ^ 19 ^ 20 ^ 21a · 21b · 21c · 21d · 21e · 21f · 21g
SP1: - -
SP2: -
SP3: -
SP4: - -
SP5: -
SP6:
SP7:
SP8: -
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:

Relevant External Links for SON Gene

GeneLoc Exon Structure for
SON
ECgene alternative splicing isoforms for
SON

Expression for SON Gene

mRNA expression in normal human tissues for SON Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SON Gene

SOURCE GeneReport for Unigene cluster for SON Gene Hs.517262

mRNA Expression by UniProt/SwissProt for SON Gene

P18583-SON_HUMAN
Tissue specificity: Widely expressed, with the higher expression seen in leukocyte and heart
genes like me logo Genes that share expressions with SON: view

Orthologs for SON Gene

This gene was present in the common ancestor of animals.

Orthologs for SON Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SON 36
  • 99.52 (n)
  • 99.46 (a)
SON 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SON 36
  • 89.41 (n)
  • 86.21 (a)
SON 37
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia -- 37
  • 90 (a)
OneToMany
-- 37
  • 90 (a)
OneToMany
SON 36
  • 91.61 (n)
  • 89.31 (a)
mouse
(Mus musculus)
Mammalia Son 36
  • 87.54 (n)
  • 84.77 (a)
Son 16
Son 37
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SON 37
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SON 37
  • 72 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Son 36
  • 93.53 (n)
  • 98.56 (a)
chicken
(Gallus gallus)
Aves SON 37
  • 36 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SON 37
  • 62 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.21268 36
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.16651 36
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10141 36
zebrafish
(Danio rerio)
Actinopterygii SON 37
  • 52 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG8273 37
  • 29 (a)
OneToOne
CG8273 38
  • 38 (a)
worm
(Caenorhabditis elegans)
Secernentea D1037.1 37
  • 28 (a)
OneToOne
D1037.1 38
  • 44 (a)
Species with no ortholog for SON:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SON Gene

ENSEMBL:
Gene Tree for SON (if available)
TreeFam:
Gene Tree for SON (if available)

Paralogs for SON Gene

Pseudogenes.org Pseudogenes for SON Gene

genes like me logo Genes that share paralogs with SON: view

No data available for Paralogs for SON Gene

Variants for SON Gene

Sequence variations from dbSNP and Humsavar for SON Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type MAF
rs1051810 -- 33,557,264(+) TATAG(A/T)AGAGA reference, missense, nc-transcript-variant
rs1051811 -- 33,557,265(+) ATAGA(A/T)GAGAA reference, missense, nc-transcript-variant
rs1131912 -- 33,559,351(+) TGAAC(C/T)CAAAC intron-variant, reference, missense, nc-transcript-variant, downstream-variant-500B
rs2070389 -- 33,557,116(+) TACAG(C/T)CTTTT intron-variant
rs2239563 -- 33,568,757(+) TAGCT(A/G)TGCTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SON Gene

Variant ID Type Subtype PubMed ID
nsv913724 CNV Loss 21882294
nsv913725 CNV Loss 21882294
esv2723354 CNV Deletion 23290073
esv2723355 CNV Deletion 23290073
esv2723356 CNV Deletion 23290073

Relevant External Links for SON Gene

HapMap Linkage Disequilibrium report
SON
Human Gene Mutation Database (HGMD)
SON

Disorders for SON Gene

(2) MalaCards Diseases for SON Gene

Search for SON Gene in MalaCards »
genes like me logo Genes that share disorders with SON: view

No data available for UniProtKB/Swiss-Prot for SON Gene

Publications for SON Gene

  1. Transcription repression of human hepatitis B virus genes by negative regulatory element-binding protein/SON. (PMID: 11306577) Sun C.-T. … Ting L.-P. (J. Biol. Chem. 2001) 3 4 23
  2. The SON gene encodes a conserved DNA binding protein mapping to human chromosome 21. (PMID: 8031013) Khan I.M. … Buluwela L. (Ann. Hum. Genet. 1994) 3 23
  3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen J.V. … Mann M. (Cell 2006) 3 4
  4. From PREDs and open reading frames to cDNA isolation: revisiting the human chromosome 21 transcription map. (PMID: 11707072) Reymond A. … Antonarakis S.E. (Genomics 2001) 3 4
  5. Disruption of the NHR4 domain structure in AML1-ETO abrogates SON binding and promotes leukemogenesis. (PMID: 18952841) Ahn E.Y. … Zhang D.E. (Proc. Natl. Acad. Sci. U.S.A. 2008) 3 4

Products for SON Gene

Sources for SON Gene

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