Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
25942
Gene name Gene Name - the full gene name approved by the HGNC.
SIN3 transcription regulator family member A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SIN3A
Synonyms (NCBI Gene) Gene synonyms aliases
CHR15DELq24, DEL15Q24, WITKOS
Disease Acronyms (UniProt) Disease acronyms from UniProt database
WITKOS
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q24.2
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is a transcriptional regulatory protein. It contains paired amphipathic helix (PAH) domains, which are important for protein-protein interactions and may mediate repression by the Mad-Max complex. [provided by RefSeq, Jul
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs879255618 ->G Pathogenic Frameshift variant, coding sequence variant
rs879255619 TTCT>- Pathogenic Coding sequence variant, splice acceptor variant
rs879255620 A>- Pathogenic Frameshift variant, coding sequence variant
rs879255621 G>A Pathogenic Coding sequence variant, stop gained
rs886037847 TC>- Pathogenic Frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT020539 hsa-miR-155-5p Proteomics 18668040
MIRT023524 hsa-miR-1-3p Proteomics 18668040
MIRT049314 hsa-miR-92a-3p CLASH 23622248
MIRT040584 hsa-miR-92b-3p CLASH 23622248
MIRT038894 hsa-miR-93-3p CLASH 23622248
Transcription factors
Transcription factor Regulation Reference
FOXK2 Unknown 24748658
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000118 Component Histone deacetylase complex IBA 21873635
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IBA 21873635
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IMP 22783022
GO:0000776 Component Kinetochore IEA
GO:0000785 Component Chromatin IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
607776 19353 ENSG00000169375
Protein
UniProt ID Q96ST3
Protein name Paired amphipathic helix protein Sin3a (Histone deacetylase complex subunit Sin3a) (Transcriptional corepressor Sin3a)
Protein function Acts as a transcriptional repressor. Corepressor for REST. Interacts with MXI1 to repress MYC responsive genes and antagonize MYC oncogenic activities. Also interacts with MXD1-MAX heterodimers to repress transcription by tethering SIN3A to DNA.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02671 PAH 142 186 Paired amphipathic helix repeat Repeat
PF02671 PAH 323 380 Paired amphipathic helix repeat Repeat
PF02671 PAH 478 522 Paired amphipathic helix repeat Repeat
PF08295 Sin3_corepress 552 647 Sin3 family co-repressor Domain
PF16879 Sin3a_C 886 1186 C-terminal domain of Sin3a protein Family
Tissue specificity TISSUE SPECIFICITY: Expressed in the developing brain, with highest levels of expression detected in the ventricular zone of various cortical regions. {ECO:0000269|PubMed:27399968}.
Sequence
MKRRLDDQESPVYAAQQRRIPGSTEAFPHQHRVLAPAPPVYEAVSETMQSATGIQYSVTP
SYQVSAMPQSSGSHGPAIAAVHSSHHHPTAVQPHGGQVVQSHAHPAPPVAPVQGQQQFQR
LKVEDALSYLDQVKLQFGSQPQVYNDFLDIMKEFKSQSIDTPGVISRVSQLFKGHPDLIM
GFNTFL
PPGYKIEVQTNDMVNVTTPGQVHQIPTHGIQPQPQPPPQHPSQPSAQSAPAPAQ
PAPQPPPAKVSKPSQLQAHTPASQQTPPLPPYASPRSPPVQPHTPVTISLGTAPSLQNNQ
PVEFNHAINYVNKIKNRFQGQPDIYKAFLEILHTYQKEQRNAKEAGGNYTPALTEQEVYA
QVARLFKNQEDLLSEFGQFL
PDANSSVLLSKTTAEKVDSVRNDHGGTVKKPQLNNKPQRP
SQNGCQIRRHPTGTTPPVKKKPKLLNLKDSSMADASKHGGGTESLFFDKVRKALRSAEAY
ENFLRCLVIFNQEVISRAELVQLVSPFLGKFPELFNWFKNFL
GYKESVHLETYPKERATE
GIAMEIDYASCKRLGSSYRALPKSYQQPKCTGRTPLCKEVLNDTWVSFPSWSEDSTFVSS
KKTQYEEHIYRCEDERFELDVVLETNLATIRVLEAIQKKLSRLSAEE
QAKFRLDNTLGGT
SEVIHRKALQRIYADKAADIIDGLRKNPSIAVPIVLKRLKMKEEEWREAQRGFNKVWREQ
NEKYYLKSLDHQGINFKQNDTKVLRSKSLLNEIESIYDERQEQATEENAGVPVGPHLSLA
YEDKQILEDAAALIIHHVKRQTGIQKEDKYKIKQIMHHFIPDLLFAQRGDLSDVEEEEEE
EMDVDEATGAVKKHNGVGGSPPKSKLLFSNTAAQKLRGMDEVYNLFYVNNNWYIFMRLHQ
ILCLRLLRICSQAERQIEEENREREWEREVLGIKRDKSDSPAIQLRLKEPMDVDVEDYYP
AFLDMVRSLLDGNIDSSQYEDSLREMFTIHAYIAFTMDKLIQSIVRQLQHIVSDEICVQV
TDLYLAENNNGATGGQLNTQNSRSLLESTYQRKAEQLMSDENCFKLMFIQSQGQVQLTIE
LLDTEEENSDDPVEAERWSDYVERYMNSDTTSPELREHLAQKPVFLPRNLRRIRKCQRGR
EQQEKEGKEGNSKKTMENVDSLDKLECRFKLNSYKMVYVIKSEDYM
YRRTALLRAHQSHE
RVSKRLHQRFQAWVDKWTKEHVPREMAAETSKWLMGEGLEGLVPCTTTCDTETLHFVSIN
KYRVKYGTVFKAP
Sequence length 1273
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  TGF-beta signaling pathway
Thyroid hormone signaling pathway
Huntington disease
Epstein-Barr virus infection
Transcriptional misregulation in cancer
  SUMOylation of transcription cofactors
Regulation of lipid metabolism by PPARalpha
RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function
Loss of MECP2 binding ability to 5mC-DNA
Regulation of MECP2 expression and activity
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Agenesis of corpus callosum Agenesis of corpus callosum rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933 27399968
Attention deficit hyperactivity disorder Attention deficit hyperactivity disorder rs786205019
Autism spectrum disorder Autism Spectrum Disorders rs724159978, rs75184679, rs119103221, rs9332964, rs121912562, rs1594344233, rs727504317, rs111033204, rs1801086, rs587784464, rs724159948, rs764659822, rs794727977, rs796052733, rs796052728
View all (51 more)
27399968
Autism Autistic Disorder, Autistic behavior rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699
View all (8 more)
30267900
Unknown
Disease term Disease name Evidence References Source
Diabetes Diabetes GWAS
Breast cancer Breast cancer Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients GWAS, CBGDA
Associations from Text Mining
Disease Name Relationship Type References
Alcohol Related Disorders Associate 33437032
Arthritis Rheumatoid Associate 23456299
Breast Neoplasms Associate 20920219, 21737614, 28805661, 30375428, 33962648, 35406744, 37459799
Breast Neoplasms Inhibit 35247910
Burkitt Lymphoma Associate 30617194
Calcinosis Cutis Associate 31668133
Carcinoma Hepatocellular Associate 29658607
Carcinoma Non Small Cell Lung Associate 37291119
Carcinoma Renal Cell Associate 33232269, 34586647, 36367018
Dermatitis Atopic Associate 27498343