Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	79595
Gene name	Sin3A associated protein 130
Gene symbol	SAP130
Synonyms (NCBI Gene)	-
Chromosome	2
Chromosome location	2q14.3
Summary	SAP130 is a subunit of the histone deacetylase (see HDAC1; MIM 601241)-dependent SIN3A (MIM 607776) corepressor complex (Fleischer et al., 2003 [PubMed 12724404]).[supplied by OMIM, Mar 2008]

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SNP ID	Visualize variation	Clinical significance	Consequence
rs1573847394	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained

174

Show/Hide all (174)

miRTarBase ID	miRNA	Experiments	Reference
MIRT439712	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT439712	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT1325704	hsa-miR-1203	CLIP-seq
MIRT1325705	hsa-miR-1226	CLIP-seq
MIRT1325706	hsa-miR-1228	CLIP-seq
MIRT1325707	hsa-miR-1270	CLIP-seq
MIRT1325708	hsa-miR-147	CLIP-seq
MIRT1325709	hsa-miR-3138	CLIP-seq
MIRT1325710	hsa-miR-3148	CLIP-seq
MIRT1325711	hsa-miR-3165	CLIP-seq
MIRT1325712	hsa-miR-324-5p	CLIP-seq
MIRT1325713	hsa-miR-3911	CLIP-seq
MIRT1325714	hsa-miR-3978	CLIP-seq
MIRT1325715	hsa-miR-425	CLIP-seq
MIRT1325716	hsa-miR-4436b-5p	CLIP-seq
MIRT1325717	hsa-miR-4456	CLIP-seq
MIRT1325718	hsa-miR-4536	CLIP-seq
MIRT1325719	hsa-miR-4666-3p	CLIP-seq
MIRT1325720	hsa-miR-4683	CLIP-seq
MIRT1325721	hsa-miR-4718	CLIP-seq
MIRT1325722	hsa-miR-4772-5p	CLIP-seq
MIRT1325723	hsa-miR-516b	CLIP-seq
MIRT1325724	hsa-miR-548v	CLIP-seq
MIRT1325725	hsa-miR-576-3p	CLIP-seq
MIRT1325726	hsa-miR-582-3p	CLIP-seq
MIRT1325727	hsa-miR-620	CLIP-seq
MIRT1325728	hsa-miR-642b	CLIP-seq
MIRT1325729	hsa-miR-644	CLIP-seq
MIRT2096617	hsa-miR-1205	CLIP-seq
MIRT1325705	hsa-miR-1226	CLIP-seq
MIRT2096618	hsa-miR-1286	CLIP-seq
MIRT2096619	hsa-miR-1537	CLIP-seq
MIRT2096620	hsa-miR-1910	CLIP-seq
MIRT2096621	hsa-miR-198	CLIP-seq
MIRT2096622	hsa-miR-24	CLIP-seq
MIRT2096623	hsa-miR-28-3p	CLIP-seq
MIRT2096624	hsa-miR-2861	CLIP-seq
MIRT2096625	hsa-miR-3155	CLIP-seq
MIRT2096626	hsa-miR-3155b	CLIP-seq
MIRT2096627	hsa-miR-342-5p	CLIP-seq
MIRT2096628	hsa-miR-3614-5p	CLIP-seq
MIRT2096629	hsa-miR-3675-5p	CLIP-seq
MIRT2096630	hsa-miR-3681	CLIP-seq
MIRT2096631	hsa-miR-3714	CLIP-seq
MIRT2096632	hsa-miR-3945	CLIP-seq
MIRT2096633	hsa-miR-410	CLIP-seq
MIRT2096634	hsa-miR-4253	CLIP-seq
MIRT2096635	hsa-miR-4276	CLIP-seq
MIRT2096636	hsa-miR-4280	CLIP-seq
MIRT2096637	hsa-miR-4302	CLIP-seq
MIRT2096638	hsa-miR-455-3p	CLIP-seq
MIRT2096639	hsa-miR-4645-5p	CLIP-seq
MIRT2096640	hsa-miR-4660	CLIP-seq
MIRT2096641	hsa-miR-4664-5p	CLIP-seq
MIRT2096642	hsa-miR-4673	CLIP-seq
MIRT2096643	hsa-miR-4696	CLIP-seq
MIRT2096644	hsa-miR-4722-5p	CLIP-seq
MIRT2096645	hsa-miR-4732-5p	CLIP-seq
MIRT2096646	hsa-miR-4753-5p	CLIP-seq
MIRT2096647	hsa-miR-4764-5p	CLIP-seq
MIRT1325722	hsa-miR-4772-5p	CLIP-seq
MIRT2096648	hsa-miR-4790-3p	CLIP-seq
MIRT2096649	hsa-miR-4796-5p	CLIP-seq
MIRT2096650	hsa-miR-4797-3p	CLIP-seq
MIRT2096651	hsa-miR-484	CLIP-seq
MIRT2096652	hsa-miR-501-5p	CLIP-seq
MIRT2096653	hsa-miR-548ac	CLIP-seq
MIRT2096654	hsa-miR-548d-3p	CLIP-seq
MIRT1325724	hsa-miR-548v	CLIP-seq
MIRT2096655	hsa-miR-548z	CLIP-seq
MIRT2096656	hsa-miR-577	CLIP-seq
MIRT1325728	hsa-miR-642b	CLIP-seq
MIRT1325704	hsa-miR-1203	CLIP-seq
MIRT2096617	hsa-miR-1205	CLIP-seq
MIRT1325705	hsa-miR-1226	CLIP-seq
MIRT2096618	hsa-miR-1286	CLIP-seq
MIRT2096620	hsa-miR-1910	CLIP-seq
MIRT2321026	hsa-miR-2115	CLIP-seq
MIRT2096622	hsa-miR-24	CLIP-seq
MIRT2096623	hsa-miR-28-3p	CLIP-seq
MIRT2096624	hsa-miR-2861	CLIP-seq
MIRT1325709	hsa-miR-3138	CLIP-seq
MIRT2096625	hsa-miR-3155	CLIP-seq
MIRT2096626	hsa-miR-3155b	CLIP-seq
MIRT1325711	hsa-miR-3165	CLIP-seq
MIRT1325712	hsa-miR-324-5p	CLIP-seq
MIRT2096628	hsa-miR-3614-5p	CLIP-seq
MIRT2321027	hsa-miR-3660	CLIP-seq
MIRT2096629	hsa-miR-3675-5p	CLIP-seq
MIRT2321028	hsa-miR-3977	CLIP-seq
MIRT2096633	hsa-miR-410	CLIP-seq
MIRT1325715	hsa-miR-425	CLIP-seq
MIRT2321029	hsa-miR-4256	CLIP-seq
MIRT2096635	hsa-miR-4276	CLIP-seq
MIRT2321030	hsa-miR-4277	CLIP-seq
MIRT2096636	hsa-miR-4280	CLIP-seq
MIRT2096637	hsa-miR-4302	CLIP-seq
MIRT2321031	hsa-miR-4317	CLIP-seq
MIRT1325717	hsa-miR-4456	CLIP-seq
MIRT2321032	hsa-miR-4526	CLIP-seq
MIRT2096638	hsa-miR-455-3p	CLIP-seq
MIRT2096639	hsa-miR-4645-5p	CLIP-seq
MIRT2096642	hsa-miR-4673	CLIP-seq
MIRT2096643	hsa-miR-4696	CLIP-seq
MIRT2096644	hsa-miR-4722-5p	CLIP-seq
MIRT2096645	hsa-miR-4732-5p	CLIP-seq
MIRT2096646	hsa-miR-4753-5p	CLIP-seq
MIRT2096648	hsa-miR-4790-3p	CLIP-seq
MIRT2096650	hsa-miR-4797-3p	CLIP-seq
MIRT2096651	hsa-miR-484	CLIP-seq
MIRT2321033	hsa-miR-516a-3p	CLIP-seq
MIRT2096653	hsa-miR-548ac	CLIP-seq
MIRT2096654	hsa-miR-548d-3p	CLIP-seq
MIRT2096655	hsa-miR-548z	CLIP-seq
MIRT2096656	hsa-miR-577	CLIP-seq
MIRT1325726	hsa-miR-582-3p	CLIP-seq
MIRT2321034	hsa-miR-616	CLIP-seq
MIRT1325728	hsa-miR-642b	CLIP-seq
MIRT2096628	hsa-miR-3614-5p	CLIP-seq
MIRT2321027	hsa-miR-3660	CLIP-seq
MIRT2096633	hsa-miR-410	CLIP-seq
MIRT2321029	hsa-miR-4256	CLIP-seq
MIRT2321032	hsa-miR-4526	CLIP-seq
MIRT2096643	hsa-miR-4696	CLIP-seq
MIRT2096648	hsa-miR-4790-3p	CLIP-seq
MIRT1325728	hsa-miR-642b	CLIP-seq
MIRT2617047	hsa-miR-1249	CLIP-seq
MIRT2617048	hsa-miR-1303	CLIP-seq
MIRT2096621	hsa-miR-198	CLIP-seq
MIRT2617049	hsa-miR-3129-3p	CLIP-seq
MIRT2617050	hsa-miR-3160-5p	CLIP-seq
MIRT2096627	hsa-miR-342-5p	CLIP-seq
MIRT2096628	hsa-miR-3614-5p	CLIP-seq
MIRT2617051	hsa-miR-3662	CLIP-seq
MIRT2096631	hsa-miR-3714	CLIP-seq
MIRT2617052	hsa-miR-377	CLIP-seq
MIRT2096633	hsa-miR-410	CLIP-seq
MIRT2617053	hsa-miR-4326	CLIP-seq
MIRT2617054	hsa-miR-4471	CLIP-seq
MIRT2617055	hsa-miR-4511	CLIP-seq
MIRT2617056	hsa-miR-4521	CLIP-seq
MIRT2096640	hsa-miR-4660	CLIP-seq
MIRT2096641	hsa-miR-4664-5p	CLIP-seq
MIRT2617057	hsa-miR-4681	CLIP-seq
MIRT2096643	hsa-miR-4696	CLIP-seq
MIRT2096647	hsa-miR-4764-5p	CLIP-seq
MIRT1325722	hsa-miR-4772-5p	CLIP-seq
MIRT2096648	hsa-miR-4790-3p	CLIP-seq
MIRT2096652	hsa-miR-501-5p	CLIP-seq
MIRT2617058	hsa-miR-602	CLIP-seq
MIRT2617059	hsa-miR-633	CLIP-seq
MIRT1325728	hsa-miR-642b	CLIP-seq
MIRT2617047	hsa-miR-1249	CLIP-seq
MIRT2096621	hsa-miR-198	CLIP-seq
MIRT2617050	hsa-miR-3160-5p	CLIP-seq
MIRT2096627	hsa-miR-342-5p	CLIP-seq
MIRT2096628	hsa-miR-3614-5p	CLIP-seq
MIRT2617051	hsa-miR-3662	CLIP-seq
MIRT2096631	hsa-miR-3714	CLIP-seq
MIRT2617052	hsa-miR-377	CLIP-seq
MIRT2096633	hsa-miR-410	CLIP-seq
MIRT2617053	hsa-miR-4326	CLIP-seq
MIRT2617054	hsa-miR-4471	CLIP-seq
MIRT2617055	hsa-miR-4511	CLIP-seq
MIRT2096640	hsa-miR-4660	CLIP-seq
MIRT2096641	hsa-miR-4664-5p	CLIP-seq
MIRT2617057	hsa-miR-4681	CLIP-seq
MIRT2096643	hsa-miR-4696	CLIP-seq
MIRT2096647	hsa-miR-4764-5p	CLIP-seq
MIRT1325722	hsa-miR-4772-5p	CLIP-seq
MIRT2096648	hsa-miR-4790-3p	CLIP-seq
MIRT2096652	hsa-miR-501-5p	CLIP-seq
MIRT2617058	hsa-miR-602	CLIP-seq
MIRT1325728	hsa-miR-642b	CLIP-seq

Show/Hide all (13)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IBA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	22783022
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	NAS	9651585, 22865885
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	28554894
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0016607	Component	Nuclear speck	IDA
GO:0030336	Process	Negative regulation of cell migration	NAS	22984288
GO:0030512	Process	Negative regulation of transforming growth factor beta receptor signaling pathway	NAS	22984288
GO:0070822	Component	Sin3-type complex	IBA
GO:0070822	Component	Sin3-type complex	NAS	28554894
GO:1902455	Process	Negative regulation of stem cell population maintenance	NAS	28554894
GO:1902459	Process	Positive regulation of stem cell population maintenance	NAS	28554894

MIM	HGNC	e!Ensembl
609697	29813	ENSG00000136715

Q9H0E3

Protein name

Histone deacetylase complex subunit SAP130 (130 kDa Sin3-associated polypeptide) (Sin3-associated polypeptide p130)

Protein function

Acts as a transcriptional repressor. May function in the assembly and/or enzymatic activity of the mSin3A corepressor complex or in mediating interactions between the complex and other regulatory complexes.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF16014	SAP130_C	677 → 1031	Histone deacetylase complex subunit SAP130 C-terminus	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in various cancer cell ines. {ECO:0000269|PubMed:12724404}.

Sequence

MGPPRHPQAGEIEAGGAGGGRRLQVEMSSQQFPRLGAPSTGLSQAPSQIANSGSAGLINP
AATVNDESGRDSEVSAREHMSSSSSLQSREEKQEPVVVRPYPQVQMLSTHHAVASATPVA
VTAPPAHLTPAVPLSFSEGLMKPPPKPTMPSRPIAPAPPSTLSLPPKVPGQVTVTMESSI
PQASAIPVATISGQQGHPSNLHHIMTTNVQMSIIRSNAPGPPLHIGASHLPRGAAAAAVM
SSSKVTTVLRPTSQLPNAATAQPAVQHIIHQPIQSRPPVTTSNAIPPAVVATVSATRAQS
PVITTTAAHATDSALSRPTLSIQHPPSAAISIQRPAQSRDVTTRITLPSHPALGTPKQQL
HTMAQKTIFSTGTPVAAATVAPILATNTIPSATTAGSVSHTQAPTSTIVTMTVPSHSSHA
TAVTTSNIPVAKVVPQQITHTSPRIQPDYPAERSSLIPISGHRASPNPVAMETRSDNRPS
VPVQFQYFLPTYPPSAYPLAAHTYTPITSSVSTIRQYPVSAQAPNSAITAQTGVGVASTV
HLNPMQLMTVDASHARHIQGIQPAPISTQGIQPAPIGTPGIQPAPLGTQGIHSATPINTQ
GLQPAPMGTQQPQPEGKTSAVVLADGATIVANPISNPFSAAPAATTVVQTHSQSASTNAP
AQGSSPRPSILRKKPATDGAKPKSEIHVSMATPVTVSMETVSNQNNDQPTIAVPPTAQQP
PPTIPTMIAAASPPSQPAVALSTIPGAVPITPPITTIAAAPPPSVTVGGSLSSVLGPPVP
EIKVKEEVEPMDIMRPVSAVPPLATNTVSPSLALLANNLSMPTSDLPPGASPRKKPRKQQ
HVISTEEGDMMETNSTDDEKSTAKSLLVKAEKRKSPPKEYIDEEGVRYVPVRPRPPITLL
RHYRNPWKAAYHHFQRYSDVRVKEEKKAMLQEIANQKGVSCRAQGWKVHLCAAQLLQLTN
LEHDVYERLTNLQEGIIPKKKAATDDDLHRINELIQGNMQRCKLVMDQISEARDSMLKVL
DHKDRVLKLLNKNGTVKKVSKLKRKEKV

Sequence length

1048

Interactions

View interactions

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)

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOPLASTIC LEFT HEART SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SAP130-related disorder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (8)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alzheimer Disease	Alzheimer disease	Pubtator	37354922	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	22496461		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	22496461	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	28530678		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	31583714		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	27931267		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplastic Left Heart Syndrome	Hypoplastic Left Heart Syndrome	CTD_human_DG	28530678		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOPLASTIC LEFT HEART SYNDROME 1	Hypoplastic Left Heart Syndrome	BEFREE	28530678, 29569026		★★★★★ ★☆☆☆☆ Found in Text Mining only

SAP130 (Sin3A associated protein 130)