Gene Gene information from NCBI Gene database.
Entrez ID 10284
Gene name Sin3A associated protein 18
Gene symbol SAP18
Synonyms (NCBI Gene)
2HOR0202SAP18P
Chromosome 13
Chromosome location 13q12.11
Summary Histone acetylation plays a key role in the regulation of eukaryotic gene expression. Histone acetylation and deacetylation are catalyzed by multisubunit complexes. The protein encoded by this gene is a component of the histone deacetylase complex, which
miRNA miRNA information provided by mirtarbase database.
254
miRTarBase ID miRNA Experiments Reference
MIRT048161 hsa-miR-196a-5p CLASH 23622248
MIRT043131 hsa-miR-324-5p CLASH 23622248
MIRT043002 hsa-miR-324-3p CLASH 23622248
MIRT041858 hsa-miR-484 CLASH 23622248
MIRT037310 hsa-miR-877-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26
GO ID Ontology Definition Evidence Reference
GO:0000118 Component Histone deacetylase complex TAS 9150135
GO:0000381 Process Regulation of alternative mRNA splicing, via spliceosome IDA 20966198
GO:0000381 Process Regulation of alternative mRNA splicing, via spliceosome IMP 22203037
GO:0003714 Function Transcription corepressor activity IBA
GO:0003714 Function Transcription corepressor activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602949 10530 ENSG00000150459
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O00422
Protein name Histone deacetylase complex subunit SAP18 (18 kDa Sin3-associated polypeptide) (2HOR0202) (Cell growth-inhibiting gene 38 protein) (Sin3-associated polypeptide p18)
Protein function Component of the SIN3-repressing complex. Enhances the ability of SIN3-HDAC1-mediated transcriptional repression. When tethered to the promoter, it can direct the formation of a repressive complex to core histone proteins. Auxiliary component of
PDB 2HDE
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06487 SAP18 19 137 Sin3 associated polypeptide p18 (SAP18) Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitous.
Sequence
Sequence length 153
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Nucleocytoplasmic transport
mRNA surveillance pathway
  HDACs deacetylate histones
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
OLIGODENDROGLIOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease Alzheimer disease Pubtator 33633844 Associate
★☆☆☆☆
Found in Text Mining only
Anterior segment mesenchymal dysgenesis Anterior segment mesenchymal dysgenesis Pubtator 37239394 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 35812454 Associate
★☆☆☆☆
Found in Text Mining only
Down Syndrome Down syndrome Pubtator 33633844 Associate
★☆☆☆☆
Found in Text Mining only