Gene Gene information from NCBI Gene database.
Entrez ID 6651
Gene name SON DNA and RNA binding protein
Gene symbol SON
Synonyms (NCBI Gene)
BASS1C21orf50DBP-5NREBPSON3TOKIMS
Chromosome 21
Chromosome location 21q22.11
Summary 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 hep
SNPs SNP information provided by dbSNP.
36
SNP ID Visualize variation Clinical significance Consequence
rs769691894 TGGAGCCTTCGGTTGTGACTGTCC>- Likely-pathogenic Inframe deletion, intron variant, coding sequence variant, non coding transcript variant
rs886039773 TTAG>- Pathogenic, likely-pathogenic Frameshift variant, intron variant, coding sequence variant, non coding transcript variant
rs886039774 GA>- Pathogenic, pathogenic-likely-pathogenic Frameshift variant, intron variant, coding sequence variant, non coding transcript variant
rs886039775 ->CC Pathogenic-likely-pathogenic Frameshift variant, intron variant, coding sequence variant, non coding transcript variant
rs886039776 A>- Pathogenic, pathogenic-likely-pathogenic Frameshift variant, intron variant, coding sequence variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
700
miRTarBase ID miRNA Experiments Reference
MIRT016074 hsa-miR-374b-5p Sequencing 20371350
MIRT020220 hsa-miR-130b-3p Sequencing 20371350
MIRT027080 hsa-miR-103a-3p Sequencing 20371350
MIRT028488 hsa-miR-30a-5p Proteomics 18668040
MIRT031190 hsa-miR-19b-3p Sequencing 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22
GO ID Ontology Definition Evidence Reference
GO:0000226 Process Microtubule cytoskeleton organization IMP 21504830
GO:0000281 Process Mitotic cytokinesis IMP 21504830
GO:0003676 Function Nucleic acid binding IEA
GO:0003677 Function DNA binding IEA
GO:0003723 Function RNA binding HDA 22658674, 22681889
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
182465 11183 ENSG00000159140
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P18583
Protein name Protein SON (Bax antagonist selected in saccharomyces 1) (BASS1) (Negative regulatory element-binding protein) (NRE-binding protein) (Protein DBP-5) (SON3)
Protein 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,
PDB 7CIQ , 7CIR , 7CIS , 7DYN
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF17069 RSRP 1907 2198 Family
PF01585 G-patch 2305 2349 G-patch domain Family
PF14709 DND1_DSRM 2370 2423 Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed, with the higher expression seen in leukocyte and heart.
Sequence
MATNIEQIFRSFVVSKFREIQQELSSGRNEGQLNGETNTPIEGNQAGDAAASARSLPNEE
IVQKIEEVLSGVLDTELRYKPDLKEGSRKSRCVSVQTDPTDEIPTKKSKKHKKHKNKKKK
KKKEKEKKYKRQPEESESKTKSHDDGNIDLESDSFLKFDSEPSAVALELPTRAFGPSETN
ESPAVVLEPPVVSMEVSEPHILETLKPATKTAELSVVSTSVISEQSEQSVAVMPEPSMTK
ILDSFAAAPVPTTTLVLKSSEPVVTMSVEYQMKSVLKSVESTSPEPSKIMLVEPPVAKVL
EPSETLVVSSETPTEVYPEPSTSTTMDFPESSAIEALRLPEQPVDVPSEIADSSMTRPQE
LPELPKTTALELQESSVASAMELPGPPATSMPELQGPPVTPVLELPGPSATPVPELPGPL
STPVPELPGPPATAVPELPGPSVTPVPQLSQELPGLPAPSMGLEPPQEVPEPPVMAQELP
GLPLVTAAVELPEQPAVTVAMELTEQPVTTTELEQPVGMTTVEHPGHPEVTTATGLLGQP
EATMVLELPGQPVATTALELPGQPSVTGVPELPGLPSATRALELSGQPVATGALELPGPL
MAAGALEFSGQSGAAGALELLGQPLATGVLELPGQPGAPELPGQPVATVALEISVQSVVT
TSELSTMTVSQSLEVPSTTALESYNTVAQELPTTLVGETSVTVGVDPLMAPESHILASNT
METHILASNTMDSQMLASNTMDSQMLASNTMDSQMLASSTMDSQMLATSSMDSQMLATSS
MDSQMLATSTMDSQMLATSSMDSQMLATSSMDSQMLATSSMDSQMLATSSMDSQMLATST
MDSQMLATSTMDSQMLATSSMDSQMLASGTMDSQMLASGTMDAQMLASGTMDAQMLASST
QDSAMLGSKSPDPYRLAQDPYRLAQDPYRLGHDPYRLGHDAYRLGQDPYRLGHDPYRLTP
DPYRMSPRPYRIAPRSYRIAPRPYRLAPRPLMLASRRSMMMSYAAERSMMSSYERSMMSY
ERSMMSPMAERSMMSAYERSMMSAYERSMMSPMAERSMMSAYERSMMSAYERSMMSPMAD
RSMMSMGADRSMMSSYSAADRSMMSSYSAADRSMMSSYTADRSMMSMAADSYTDSYTDTY
TEAYMVPPLPPEEPPTMPPLPPEEPPMTPPLPPEEPPEGPALPTEQSALTAENTWPTEVP
SSPSEESVSQPEPPVSQSEISEPSAVPTDYSVSASDPSVLVSEAAVTVPEPPPEPESSIT
LTPVESAVVAEEHEVVPERPVTCMVSETPAMSAEPTVLASEPPVMSETAETFDSMRASGH
VASEVSTSLLVPAVTTPVLAESILEPPAMAAPESSAMAVLESSAVTVLESSTVTVLESST
VTVLEPSVVTVPEPPVVAEPDYVTIPVPVVSALEPSVPVLEPAVSVLQPSMIVSEPSVSV
QESTVTVSEPAVTVSEQTQVIPTEVAIESTPMILESSIMSSHVMKGINLSSGDQNLAPEI
GMQEIALHSGEEPHAEEHLKGDFYESEHGINIDLNINNHLIAKEMEHNTVCAAGTSPVGE
IGEEKILPTSETKQRTVLDTYPGVSEADAGETLSSTGPFALEPDATGTSKGIEFTTASTL
SLVNKYDVDLSLTTQDTEHDMVISTSPSGGSEADIEGPLPAKDIHLDLPSNNNLVSKDTE
EPLPVKESDQTLAALLSPKESSGGEKEVPPPPKETLPDSGFSANIEDINEADLVRPLLPK
DMERLTSLRAGIEGPLLASDVGRDRSAASPVVSSMPERASESSSEEKDDYEIFVKVKDTH
EKSKKNKNRDKGEKEKKRDSSLRSRSKRSKSSEHKSRKRTSESRSRARKRSSKSKSHRSQ
TRSRSRSRRRRRSSRSRSKSRGRRSVSKEKRKRSPKHRSKSRERKRKRSSSRDNRKTVRA
RSRTPSRRSRSHTPSRRRRSRSVGRRRSFSISPSRRSRTPSRRSRTPSRRSRTPSRRSRT
PSRRSRTPSRRSRTPSRRRRSRSVVRRRSFSISPVRLRRSRTPLRRRFSRSPIRRKRSRS
SERGRSPKRLTDLDKAQLLEIAKANAAAMCAKAGVPLPPNLKPAPPPTIEEKVAKKSGGA
TIEELTEKCKQIAQSKEDDDVIVNKPHVSDEEEEEPPFYHHPFKLSEPKPIFFNLNIAAA
KPTPPKSQVTLTKEFPVSSGSQHRKKEADSVYGEWVPV
EKNGEENKDDDNVFSSNLPSEP
VDISTAMSERALAQKRLSENAFDLEAMSMLNRAQERIDAWAQLNSIPGQFTGSTGVQVLT
QEQLANTGAQAWIKKDQFLRAAPVTGGMGAVLMRKMGWREGEGLGKNKEGNKEPILVDFK
TDRKGLVAV
GERAQKRSGNFSAAMKDLSGKHPVSALMEICNKRRWQPPEFLLVHDSGPDH
RKHFLFRVLRNGALTRPNCMFFL
NRY
Sequence length 2426
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
330
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Failure to thrive Likely pathogenic; Pathogenic rs886039777, rs886039778, rs1114167303, rs886039773, rs886039779 RCV000491484
RCV000491797
RCV000491002
RCV000491471
RCV000491964
Global developmental delay Likely pathogenic; Pathogenic rs886039777, rs886039778, rs1114167303, rs886039773, rs886039779 RCV000491484
RCV000491797
RCV000491002
RCV000491471
RCV000491964
Hereditary spastic paraplegia 17 Likely pathogenic; Pathogenic rs886039773 RCV001753715
Intellectual disability Pathogenic rs2145828175, rs2085890366 RCV001420967
RCV001260869
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Developmental disorder Likely benign rs1393509538 RCV001843780
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Carcinoma Hepatocellular Associate 11306577