SAP18

Summary

SAP18 (Sin3A associated protein 18, HGNC:10530) is a protein-coding gene on chromosome 13q12.11, encoding Histone deacetylase complex subunit SAP18 (O00422). Component of the SIN3-repressing complex. It is a common-essential gene (DepMap: required in 98.4% of cancer cell lines).

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 includes SIN3, SAP30, HDAC1, HDAC2, RbAp46, RbAp48, and other polypeptides. This protein directly interacts with SIN3 and enhances SIN3-mediated transcriptional repression when tethered to the promoter. A pseudogene has been identified on chromosome 2.

Source: NCBI Gene 10284 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 9 total — 2 pathogenic
• Druggable target: yes — 1 molecules with ChEMBL bioactivity
• Cancer dependency (DepMap): dependent in 98.4% of screened cell lines (common-essential)
• MANE Select transcript: NM_005870

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:10530
Approved symbol	SAP18
Name	Sin3A associated protein 18
Location	13q12.11
Locus type	gene with protein product
Status	Approved
Aliases	SAP18p, 2HOR0202, MGC27131
Ensembl gene	ENSG00000150459
Ensembl biotype	protein_coding
OMIM	602949
Entrez	10284

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 7 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000382533, ENST00000450573, ENST00000467636, ENST00000471009, ENST00000485646, ENST00000492245, ENST00000607003, ENST00000621421, ENST00000903349

RefSeq mRNA: 2 — MANE Select: NM_005870 NM_001366643, NM_005870

CCDS: CCDS9295

Canonical transcript exons

ENST00000382533 — 4 exons

Exon	Start	End
ENSE00003697778	21140886	21140995
ENSE00003699284	21146805	21146927
ENSE00003978338	21140119	21140681
ENSE00003978339	21147186	21149097

Expression profiles

Bgee: expression breadth ubiquitous, 295 present calls, max score 99.64.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 228.7635 / max 2280.9758, expressed in 1827 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
134327	155.8442	1827
134328	71.2230	1822
134329	0.9049	559
134330	0.7590	437
134326	0.0243	3
134325	0.0082	3

Top tissues by expression

295 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
adult organism	UBERON:0007023	99.64	gold quality
medial globus pallidus	UBERON:0002477	99.29	gold quality
heart right ventricle	UBERON:0002080	99.21	gold quality
tendon	UBERON:0000043	99.08	gold quality
tendon of biceps brachii	UBERON:0008188	99.08	gold quality
globus pallidus	UBERON:0001875	99.06	gold quality
corpus epididymis	UBERON:0004359	99.04	gold quality
calcaneal tendon	UBERON:0003701	99.03	gold quality
endometrium epithelium	UBERON:0004811	99.02	gold quality
caput epididymis	UBERON:0004358	99.01	gold quality
bronchial epithelial cell	CL:0002328	99.00	gold quality
biceps brachii	UBERON:0001507	98.99	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	98.98	gold quality
right testis	UBERON:0004534	98.97	gold quality
oral cavity	UBERON:0000167	98.96	gold quality
left testis	UBERON:0004533	98.96	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	98.95	gold quality
cauda epididymis	UBERON:0004360	98.94	gold quality
type B pancreatic cell	CL:0000169	98.90	gold quality
pons	UBERON:0000988	98.89	gold quality
trabecular bone tissue	UBERON:0002483	98.89	gold quality
cartilage tissue	UBERON:0002418	98.85	gold quality
spinal cord	UBERON:0002240	98.82	gold quality
skin of hip	UBERON:0001554	98.78	gold quality
epithelium of bronchus	UBERON:0002031	98.78	gold quality
triceps brachii	UBERON:0001509	98.77	gold quality
seminal vesicle	UBERON:0000998	98.76	gold quality
bronchus	UBERON:0002185	98.74	gold quality
testis	UBERON:0000473	98.70	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	98.70	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-GEOD-135922	yes	20.04
E-MTAB-10485	no	1379.50
E-MTAB-8060	no	1080.71
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): KDM5A, LHX2

miRNA regulators (miRDB)

69 targeting SAP18, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-485-3P	99.98	70.68	1585
HSA-MIR-539-3P	99.98	70.74	1616
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-515-5P	99.92	69.82	2343
HSA-MIR-519E-5P	99.92	69.62	2358
HSA-MIR-454-3P	99.91	74.01	1925
HSA-MIR-301A-3P	99.90	73.15	1839
HSA-MIR-301B-3P	99.90	73.19	1836
HSA-MIR-130A-3P	99.90	73.31	1861
HSA-MIR-130B-3P	99.90	73.27	1850
HSA-MIR-3666	99.90	73.24	1833
HSA-MIR-4295	99.90	73.11	1838
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-3941	99.86	70.54	2735
HSA-MIR-4698	99.84	71.41	4303
HSA-MIR-6875-3P	99.82	70.26	2983
HSA-MIR-4659A-3P	99.80	72.62	4248

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 98.4% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 4)

• study indicates HIV-1 integrase & INI1/hSNF5 bind SAP18 & recruit components of Sin3a-HDAC1 complex into HIV-1 virions; HIV-1 virion-associated HDAC1 is required for efficient early post-entry events, indicating novel role for HDAC1 in HIV-1 replication (PMID:19503603)
• A novel function of SAP18 in splicing regulation. (PMID:20966198)
• These studies indicated that SAP18 expression enhanced the recruitment of mSin3A in coordination with TRIB1 to MTTP regulatory elements and increased MTTP expression. (PMID:25921304)
• Functional role of SAP18 protein: From transcriptional repression to splicing regulation. (PMID:37486712)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	sap18	ENSDARG00000057854
mus_musculus	Sap18	ENSMUSG00000021963
mus_musculus	Sap18b	ENSMUSG00000061104
rattus_norvegicus	Sap18	ENSRNOG00000020771
drosophila_melanogaster	Bin1	FBGN0024491
caenorhabditis_elegans		WBGENE00007625

Protein

Protein identifiers

Histone deacetylase complex subunit SAP18 — O00422 (reviewed: O00422)

Alternative names: 18 kDa Sin3-associated polypeptide, 2HOR0202, Cell growth-inhibiting gene 38 protein, Sin3-associated polypeptide p18

All UniProt accessions (5): O00422, A0A384ME24, H7BZW6, U3KPY7, U3KQ12

UniProt curated annotations — full annotation on UniProt →

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 the splicing-dependent multiprotein exon junction complex (EJC) deposited at splice junction on mRNAs. The EJC is a dynamic structure consisting of core proteins and several peripheral nuclear and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or during subsequent mRNA metabolism. Component of the ASAP and PSAP complexes which bind RNA in a sequence-independent manner and are proposed to be recruited to the EJC prior to or during the splicing process and to regulate specific excision of introns in specific transcription subsets. The ASAP complex can inhibit mRNA processing during in vitro splicing reactions. The ASAP complex promotes apoptosis and is disassembled after induction of apoptosis. Involved in the splicing modulation of BCL2L1/Bcl-X (and probably other apoptotic genes); specifically inhibits the formation of proapoptotic isoforms such as Bcl-X(S); the activity is different from the established EJC assembly and function.

Subunit / interactions. Found in a mRNA splicing-dependent exon junction complex (EJC). Component of the heterotrimeric ASAP (apoptosis- and splicing-associated protein) and PSAP complexes consisting of RNPS1, SAP18 and either ACIN1 or PNN, respectively; the ASAP and PSAP complexes probably are formed mutually exclusive. For the ASAP complex, the association of SAP18 seems to require a preformed RNPS1:ACIN1 complex. Forms a complex with SIN3A and HDAC1. Interacts with SUFU.

Subcellular location. Nucleus. Cytoplasm. Nucleus speckle.

Tissue specificity. Ubiquitous.

Similarity. Belongs to the SAP18 family.

Isoforms (2)

UniProt ID	Names	Canonical?
O00422-1	1	yes
O00422-2	2

RefSeq proteins (2): NP_001353572, NP_005861* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR010516	SAP18	Family
IPR017250	Hist_deAcase_cplx_SAP18	Family
IPR042534	SAP18_sf	Homologous_superfamily

Pfam: PF06487

UniProt features (26 total): strand 7, helix 4, mutagenesis site 3, sequence conflict 2, turn 2, region of interest 2, initiator methionine 1, chain 1, compositionally biased region 1, modified residue 1, cross-link 1, splice variant 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
2HDE	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O00422-F1	87.08	0.73

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (2): 2, 13

Mutagenesis-validated functional residues (3):

Position	Phenotype
126	no effect on splicing regulation activity.
118	abolishes splicing regulation activity and interaction with rnps1 and acin1; when associated with a-121.
121	abolishes splicing regulation activity and interaction with rnps1 and acin1; when associated with a-118.

Function

Pathways and Gene Ontology

Reactome pathways

16 pathways

ID	Pathway
R-HSA-3214815	HDACs deacetylate histones
R-HSA-427413	NoRC negatively regulates rRNA expression
R-HSA-72163	mRNA Splicing - Major Pathway
R-HSA-9679191	Potential therapeutics for SARS
R-HSA-1643685	Disease
R-HSA-212165	Epigenetic regulation of gene expression
R-HSA-3247509	Chromatin modifying enzymes
R-HSA-4839726	Chromatin organization
R-HSA-5250941	Negative epigenetic regulation of rRNA expression
R-HSA-5663205	Infectious disease
R-HSA-72172	mRNA Splicing
R-HSA-72203	Processing of Capped Intron-Containing Pre-mRNA
R-HSA-74160	Gene expression (Transcription)
R-HSA-8953854	Metabolism of RNA
R-HSA-9679506	SARS-CoV Infections
R-HSA-9824446	Viral Infection Pathways

MSigDB gene sets: 197 (showing top): GSE45365_NK_CELL_VS_CD8_TCELL_UP, PID_HDAC_CLASSI_PATHWAY, MORF_MBD4, PID_TELOMERASE_PATHWAY, GCM_NPM1, GOBP_ALTERNATIVE_MRNA_SPLICING_VIA_SPLICEOSOME, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GOBP_NEGATIVE_REGULATION_OF_RNA_SPLICING, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, DACOSTA_UV_RESPONSE_VIA_ERCC3_UP, TGACCTY_ERR1_Q2, HEIDENBLAD_AMPLICON_8Q24_DN, MARTINEZ_RB1_TARGETS_UP

GO Biological Process (7): regulation of alternative mRNA splicing, via spliceosome (GO:0000381), regulation of transcription by RNA polymerase II (GO:0006357), mRNA processing (GO:0006397), RNA splicing (GO:0008380), positive regulation of apoptotic process (GO:0043065), negative regulation of DNA-templated transcription (GO:0045892), negative regulation of mRNA splicing, via spliceosome (GO:0048025)

GO Molecular Function (3): transcription corepressor activity (GO:0003714), RNA binding (GO:0003723), protein binding (GO:0005515)

GO Cellular Component (9): histone deacetylase complex (GO:0000118), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytosol (GO:0005829), nuclear body (GO:0016604), nuclear speck (GO:0016607), ASAP complex (GO:0061574), cytoplasm (GO:0005737), exon-exon junction complex (GO:0035145)

Reactome top-level categories

Rollup of top-12 pathways:

Category	Pathways
Chromatin modifying enzymes	1
Negative epigenetic regulation of rRNA expression	1
mRNA Splicing	1
SARS-CoV Infections	1
Gene expression (Transcription)	1
Chromatin organization	1
Epigenetic regulation of gene expression	1
Disease	1
Processing of Capped Intron-Containing Pre-mRNA	1
Metabolism of RNA	1
Viral Infection Pathways	1
Infectious disease	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
regulation of mRNA splicing, via spliceosome	2
regulation of DNA-templated transcription	2
RNA processing	2
nucleoplasm	2
nuclear protein-containing complex	2
alternative mRNA splicing, via spliceosome	1
transcription by RNA polymerase II	1
mRNA metabolic process	1
apoptotic process	1
regulation of apoptotic process	1
positive regulation of programmed cell death	1
DNA-templated transcription	1
negative regulation of RNA biosynthetic process	1
mRNA splicing, via spliceosome	1
negative regulation of RNA splicing	1
negative regulation of mRNA processing	1
transcription coregulator activity	1
negative regulation of DNA-templated transcription	1
nucleic acid binding	1
binding	1
catalytic complex	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cytoplasm	1
intracellular membraneless organelle	1
nuclear ribonucleoprotein granule	1
protein-containing complex	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

2234 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SAP18	SAP30	O75446	999
SAP18	RBBP4	P31149	997
SAP18	RBBP7	Q16576	997
SAP18	HDAC1	Q13547	996
SAP18	RNPS1	Q15287	996
SAP18	HDAC2	Q92769	995
SAP18	SUDS3	Q9H7L9	994
SAP18	SIN3A	Q96ST3	991
SAP18	ACIN1	Q9UKV3	971
SAP18	SIN3B	O75182	971
SAP18	PNN	Q9H307	926
SAP18	ARID4B	Q4LE39	771
SAP18	BRMS1	Q9HCU9	730
SAP18	BRMS1L	Q5PSV4	723
SAP18	SAP30L	Q9HAJ7	719

IntAct

194 interactions, top by confidence:

A	B	Type	Score
SAP18	RBM39	psi-mi:“MI:0915”(physical association)	0.870
RBM39	SAP18	psi-mi:“MI:0915”(physical association)	0.870
GABARAPL2	IPO5	psi-mi:“MI:0914”(association)	0.690
CAMKV	AP3B1	psi-mi:“MI:0914”(association)	0.640
SF3B1	SAP18	psi-mi:“MI:0914”(association)	0.640
THOC1	DDX39A	psi-mi:“MI:0914”(association)	0.640
SAP18	SF3B1	psi-mi:“MI:0914”(association)	0.640
RNPS1	SAP18	psi-mi:“MI:0914”(association)	0.640
PNN	SAP18	psi-mi:“MI:0915”(physical association)	0.620
PNN	SAP18	psi-mi:“MI:0914”(association)	0.620
INCA1	SAP18	psi-mi:“MI:0915”(physical association)	0.560
RBM39	SAP18	psi-mi:“MI:0915”(physical association)	0.560
SAP18	INCA1	psi-mi:“MI:0915”(physical association)	0.560
SAP18	NTAQ1	psi-mi:“MI:0915”(physical association)	0.560
SAP18	DEF6	psi-mi:“MI:0915”(physical association)	0.560
SRSF1	SAP18	psi-mi:“MI:0915”(physical association)	0.560
NCBP3	SAP18	psi-mi:“MI:0914”(association)	0.530
EPB41L1	AP3B1	psi-mi:“MI:0914”(association)	0.530
EPB41L3	AP3B1	psi-mi:“MI:0914”(association)	0.530
SAP18	HDAC1	psi-mi:“MI:0915”(physical association)	0.520

BioGRID (661): SAP18 (Two-hybrid), INCA1 (Two-hybrid), SAP18 (Affinity Capture-MS), SAP18 (Affinity Capture-MS), SAP18 (Affinity Capture-MS), SAP18 (Affinity Capture-MS), SAP18 (Affinity Capture-MS), SAP18 (Affinity Capture-MS), RNPS1 (Co-fractionation), SAP18 (Co-fractionation), SAP18 (Co-fractionation), SAP18 (Affinity Capture-MS), SAP18 (Affinity Capture-MS), SAP18 (Affinity Capture-MS), SAP18 (Affinity Capture-MS)

ESM2 similar proteins: A2XXR7, A2YS06, A3GFU8, A4LA70, A5DWI6, A6NCE7, A6RPU4, A7E8H4, C4B4E4, F7W503, O00422, O41515, O55128, O64644, O94272, P0C075, P0CO54, P0CO55, Q09250, Q09490, Q0VGK0, Q2GVL1, Q2XPP5, Q3T022, Q51MW4, Q5BIZ2, Q5QFG1, Q5RDT5, Q5RF21, Q62625, Q69RC4, Q6BT31, Q6CMF8, Q6GQ27, Q6Z1D5, Q7XPR1, Q8HYB6, Q8J282, Q8LEM4, Q8NJJ4

Diamond homologs: O00422, O55128, O64644, Q09250, Q3T022, Q5RDT5, Q9VEX9

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
SUFU	up-regulates	SAP18	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 163 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
mRNA 3’-end processing	12	20.4×	5e-11
Transport of Mature Transcript to Cytoplasm	6	19.7×	3e-05
RNA Polymerase II Transcription Termination	9	17.0×	2e-07
Transport of Mature mRNA derived from an Intron-Containing Transcript	12	15.8×	1e-09
mRNA Splicing	16	15.2×	1e-12
Processing of Capped Intron-Containing Pre-mRNA	19	13.5×	4e-14
mRNA Splicing - Major Pathway	27	12.7×	6e-20
mRNA Polyadenylation	14	10.6×	4e-09

GO biological processes:

GO term	Partners	Fold	FDR
U2-type prespliceosome assembly	7	30.1×	8e-07
negative regulation of mRNA splicing, via spliceosome	5	26.4×	2e-04
nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	7	22.6×	4e-06
mRNA export from nucleus	11	22.4×	9e-10
mRNA splicing, via spliceosome	27	17.1×	8e-23
regulation of alternative mRNA splicing, via spliceosome	6	10.1×	3e-03
RNA splicing	13	7.9×	3e-06
in utero embryonic development	11	5.5×	7e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

9 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	0
Uncertain significance	2
Likely benign	0
Benign	1

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
148827	GRCh38/hg38 13q12.11-14.11(chr13:19671934-40914767)x3	Pathogenic
57615	GRCh38/hg38 13q12.11(chr13:20026650-21967789)x1	Pathogenic

SpliceAI

606 predictions. Top by Δscore:

Variant	Effect	Δscore
13:21140681:GGTGA:G	donor_loss	1.0000
13:21140682:G:T	donor_loss	1.0000
13:21140880:CCTCA:C	acceptor_loss	1.0000
13:21140881:CTCA:C	acceptor_loss	1.0000
13:21140882:TCAG:T	acceptor_loss	1.0000
13:21140883:CAGAC:C	acceptor_loss	1.0000
13:21140884:A:AG	acceptor_gain	1.0000
13:21140884:A:G	acceptor_loss	1.0000
13:21140885:G:GT	acceptor_gain	1.0000
13:21140885:GA:G	acceptor_gain	1.0000
13:21140885:GAC:G	acceptor_gain	1.0000
13:21140885:GACA:G	acceptor_gain	1.0000
13:21140885:GACAT:G	acceptor_gain	1.0000
13:21140992:CTTG:C	donor_gain	1.0000
13:21140994:TGGT:T	donor_loss	1.0000
13:21140996:G:GG	donor_gain	1.0000
13:21140997:T:A	donor_loss	1.0000
13:21146792:A:AG	acceptor_gain	1.0000
13:21146793:A:G	acceptor_gain	1.0000
13:21146794:A:G	acceptor_gain	1.0000
13:21146795:A:G	acceptor_gain	1.0000
13:21146796:A:G	acceptor_gain	1.0000
13:21146798:A:G	acceptor_gain	1.0000
13:21147182:ACAG:A	acceptor_loss	1.0000
13:21147183:CAGA:C	acceptor_loss	1.0000
13:21147184:A:AG	acceptor_gain	1.0000
13:21147185:G:A	acceptor_loss	1.0000
13:21147185:G:GA	acceptor_gain	1.0000
13:21147185:GA:G	acceptor_gain	1.0000
13:21147185:GAGT:G	acceptor_gain	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000217546 (13:21141326 A>G), RS1000220456 (13:21138708 G>C), RS1000417790 (13:21141022 A>G,T), RS1001007328 (13:21143225 T>C), RS1001231138 (13:21147987 G>A), RS1001333429 (13:21145785 C>T), RS1001522073 (13:21142920 C>T), RS1002181281 (13:21139086 T>A), RS1002342904 (13:21142438 C>T), RS1002558773 (13:21141591 A>G), RS1002673382 (13:21141238 A>G), RS1003308013 (13:21146573 A>G), RS1003313648 (13:21143682 GA>G), RS1003849675 (13:21140654 G>A,T), RS1004245813 (13:21143731 C>T)

Disease associations

OMIM: gene MIM:602949 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5725107 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 1,538 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

Molecule	Name	Phase	Patents
CHEMBL1232461	MOLIBRESIB	2	1,538

PharmGKB: 1 entry (VIP=true, CPIC=false)

ChEMBL bioactivities

2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
7.10	IC50	80	nM	MOLIBRESIB
7.07	Kd	86	nM	MOLIBRESIB

PubChem BioAssay actives

2 with measured affinity, of 7 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
2-[(4S)-6-(4-chlorophenyl)-8-methoxy-1-methyl-4H-[1,2,4]triazolo[4,3-a][1,4]benzodiazepin-4-yl]-N-ethylacetamide	2178391: Inhibition of SAP18 (unknown origin) incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis	ic50	0.0800	uM

CTD chemical–gene interactions

45 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
aristolochic acid I	increases expression	1
Batroxase, Bothrops atrox	increases expression	1
TAK-243	affects sumoylation	1
dicrotophos	decreases expression	1
2,4,6-tribromophenol	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	affects cotreatment, increases expression	1
sodium arsenate	decreases expression	1
2-methyl-4-isothiazolin-3-one	increases expression	1
quercitrin	increases expression	1
arsenite	affects binding, increases reaction	1
sodium arsenite	increases expression	1
tetrabromobisphenol A	decreases expression	1
potassium chromate(VI)	affects cotreatment, increases expression	1
epigallocatechin gallate	affects cotreatment, increases expression	1
CD 437	decreases expression	1
3-(4’-hydroxy-3’-adamantylbiphenyl-4-yl)acrylic acid	decreases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
pentabrominated diphenyl ether 100	decreases expression	1
hexabrominated diphenyl ether 153	decreases expression	1
Sunitinib	decreases expression	1
Fulvestrant	increases methylation	1
Benzo(a)pyrene	increases methylation	1
Copper	affects binding, decreases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Disulfiram	affects binding, decreases expression	1
Diuron	decreases expression	1
Estradiol	decreases expression	1
Formaldehyde	increases expression	1
Indomethacin	affects cotreatment, increases expression	1

ChEMBL screening assays

7 unique, capped per target: 7 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5697121	Binding	Inhibition of SAP18 (unknown origin) assessed as fold change at 10 uM incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis	Inhibition of BET recruitment to chromatin as an effective treatment for MLL-fusion leukaemia. — Nature

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.