Gene Gene information from NCBI Gene database.
Entrez ID 25942
Gene name SIN3 transcription regulator family member A
Gene symbol SIN3A
Synonyms (NCBI Gene)
CHR15DELq24DEL15Q24WITKOS
Chromosome 15
Chromosome location 15q24.2
Summary 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.
22
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.
401
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 factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
FOXK2 Unknown 24748658
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
68
GO ID Ontology Definition Evidence Reference
GO:0000118 Component Histone deacetylase complex IDA 9651585
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IBA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IMP 22783022
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607776 19353 ENSG00000169375
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
125
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Gastric cancer Likely pathogenic; Pathogenic rs1444395453 RCV005922606
Intellectual disability Likely pathogenic; Pathogenic rs1444395453 RCV005626493
Neurodevelopmental disorder Likely pathogenic rs2141487276 RCV001780008
See cases Pathogenic rs2141425807 RCV001420253
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Familial cancer of breast Benign rs4886696, rs71401694 RCV005924793
RCV005923749
Hepatocellular carcinoma Benign rs4886696 RCV005924794
Malignant lymphoma, large B-cell, diffuse Benign rs71401694 RCV005923751
Melanoma Uncertain significance rs202118407 RCV005930566
Associations from Text MiningDisease associations identified through Pubtator
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