Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6651
Gene name Gene Name - the full gene name approved by the HGNC.
SON DNA and RNA binding protein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SON
Synonyms (NCBI Gene) Gene synonyms aliases
BASS1, C21orf50, DBP-5, NREBP, SON3, TOKIMS
Chromosome Chromosome number
21
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
21q22.11
Summary Summary of gene provided in NCBI Entrez 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 hep
SNPs SNP information provided by dbSNP.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000226 Process Microtubule cytoskeleton organization IMP 21504830
GO:0000281 Process Mitotic cytokinesis IMP 21504830
GO:0003677 Function DNA binding IEA
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0003723 Function RNA binding IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
182465 11183 ENSG00000159140
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Adenocarcinoma Adenoid Cystic Carcinoma rs121913530, rs886039394, rs121913474 16762588
Atrial septal defect Atrial Septal Defects rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074
View all (25 more)
Autism Autistic behavior rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699
View all (8 more)
Craniosynostosis Craniosynostosis rs104893895, rs587777006, rs587777007, rs587777008, rs587777010, rs864321680, rs864321681, rs1057517670, rs1064794325, rs1555750816, rs1599823350
Unknown
Disease term Disease name Evidence References Source
Ischemic stroke Ischemic stroke ClinVar
Associations from Text Mining
Disease Name Relationship Type References
Carcinoma Hepatocellular Associate 11306577