SUDS3

Summary

SUDS3 (SIN3A corepressor complex component SDS3, HGNC:29545) is a protein-coding gene on chromosome 12q24.23, encoding Sin3 histone deacetylase corepressor complex component SDS3 (Q9H7L9). Regulatory protein which represses transcription and augments histone deacetylase activity of HDAC1. It is a selective cancer dependency (DepMap: 44.1% of cell lines).

SDS3 is a subunit of the histone deacetylase (see HDAC1; MIM 601241)-dependent SIN3A (MIM 607776) corepressor complex (Fleischer et al., 2003 [PubMed 12724404]).

Source: NCBI Gene 64426 — RefSeq curated summary.

At a glance

• GWAS associations: 7
• Clinical variants (ClinVar): 41 total
• Druggable target: yes — 1 molecules with ChEMBL bioactivity
• Cancer dependency (DepMap): dependent in 44.1% of screened cell lines
• MANE Select transcript: NM_022491

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29545
Approved symbol	SUDS3
Name	SIN3A corepressor complex component SDS3
Location	12q24.23
Locus type	gene with protein product
Status	Approved
Aliases	SDS3, FLJ00052, SAP45
Ensembl gene	ENSG00000111707
Ensembl biotype	protein_coding
OMIM	608250
Entrez	64426

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 6 protein_coding, 3 protein_coding_CDS_not_defined

ENST00000360286, ENST00000541280, ENST00000541591, ENST00000543473, ENST00000859515, ENST00000859516, ENST00000859517, ENST00000913123, ENST00000913124

RefSeq mRNA: 1 — MANE Select: NM_022491 NM_022491

CCDS: CCDS44993

Canonical transcript exons

ENST00000543473 — 12 exons

Exon	Start	End
ENSE00000835115	118391126	118391282
ENSE00001003587	118401983	118402004
ENSE00001250338	118400659	118400754
ENSE00001416350	118401759	118401820
ENSE00001529248	118389927	118389946
ENSE00001643238	118380162	118380231
ENSE00001710197	118384012	118384067
ENSE00001744751	118386114	118386185
ENSE00002236597	118376555	118376833
ENSE00002308694	118414335	118418033
ENSE00003528312	118411073	118411157
ENSE00003533510	118403412	118403517

Expression profiles

Bgee: expression breadth ubiquitous, 254 present calls, max score 99.48.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.3241 / max 90.2776, expressed in 1762 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
128271	5.3024	1602
128270	4.0217	1549

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
oviduct epithelium	UBERON:0004804	99.48	gold quality
secondary oocyte	CL:0000655	98.56	gold quality
oocyte	CL:0000023	98.35	gold quality
buccal mucosa cell	CL:0002336	98.31	gold quality
palpebral conjunctiva	UBERON:0001812	93.41	gold quality
esophagus squamous epithelium	UBERON:0006920	92.99	gold quality
epithelial cell of pancreas	CL:0000083	91.67	gold quality
fallopian tube	UBERON:0003889	91.23	gold quality
colonic epithelium	UBERON:0000397	91.03	gold quality
parotid gland	UBERON:0001831	90.95	gold quality
upper arm skin	UBERON:0004263	90.91	gold quality
tonsil	UBERON:0002372	90.60	gold quality
germinal epithelium of ovary	UBERON:0001304	90.59	gold quality
bone marrow cell	CL:0002092	90.51	gold quality
endometrium	UBERON:0001295	90.51	gold quality
tendon	UBERON:0000043	90.29	gold quality
epithelium of nasopharynx	UBERON:0001951	90.29	gold quality
amniotic fluid	UBERON:0000173	90.07	gold quality
ileal mucosa	UBERON:0000331	89.69	gold quality
sperm	CL:0000019	89.51	gold quality
bronchial epithelial cell	CL:0002328	89.38	gold quality
calcaneal tendon	UBERON:0003701	89.34	gold quality
right uterine tube	UBERON:0001302	89.32	gold quality
bronchus	UBERON:0002185	89.32	gold quality
adrenal tissue	UBERON:0018303	88.72	gold quality
rectum	UBERON:0001052	88.69	gold quality
mucosa of paranasal sinus	UBERON:0005030	88.64	gold quality
body of pancreas	UBERON:0001150	88.55	gold quality
renal medulla	UBERON:0000362	88.54	gold quality
pancreas	UBERON:0001264	88.46	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	9.67

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

1 targets.

Target	Regulation
IFNB1

miRNA regulators (miRDB)

146 targeting SUDS3, 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-3613-3P	100.00	76.36	7965
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-6758-5P	100.00	66.21	1470
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-511-3P	99.99	68.85	1467
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-3143	99.93	71.96	3104
HSA-MIR-519E-5P	99.92	69.62	2358
HSA-MIR-515-5P	99.92	69.82	2343
HSA-MIR-10527-5P	99.91	72.28	3754
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-5680	99.91	69.83	3421
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-3671	99.90	73.04	3897
HSA-MIR-9902	99.89	69.15	2250

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 44.1% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 4)

• the composition of SIN3-HDAC (BRMS1/SUDS3) complexes uniquely affects protein expression and biological behaviors (PMID:19070953)
• SDS3, being a substrate of USP17, may play an important role in developing a novel therapeutic means to inhibit specific HDAC activities in cancer. (PMID:21239494)
• Our results have demonstrated that these hyaluronan binding motifs (HABMs) in USP17 and its substrate SDS3 are mainly involved in the inhibition of anchorage-independent tumor growth. (PMID:22662218)
• studies reveal that loss of FAM60A or another component of the Sin3 complex, SDS3, leads to a change in cell morphology and an increase in cell migration (PMID:22984288)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	suds3	ENSDARG00000073737
mus_musculus	Suds3	ENSMUSG00000066900
rattus_norvegicus	Suds3	ENSRNOG00000001139
drosophila_melanogaster	CG14220	FBGN0031036

Paralogs (2): BRMS1L (ENSG00000100916), BRMS1 (ENSG00000174744)

Protein

Protein identifiers

Sin3 histone deacetylase corepressor complex component SDS3 — Q9H7L9 (reviewed: Q9H7L9)

Alternative names: 45 kDa Sin3-associated polypeptide, Suppressor of defective silencing 3 protein homolog

All UniProt accessions (1): Q9H7L9

UniProt curated annotations — full annotation on UniProt →

Function. Regulatory protein which represses transcription and augments histone deacetylase activity of HDAC1. May have a potential role in tumor suppressor pathways through regulation of apoptosis. 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.

Subunit / interactions. Homodimer. Component of the SIN3 histone deacetylase (HDAC) corepressor complex. Interacts with SIN3A. Interaction with SIN3B enhances the interaction between SIN3B and HDAC1 to form a complex. Interacts with HCFC1. Component of a mSin3A corepressor complex that contains SIN3A, SAP130, SUDS3/SAP45, ARID4B/SAP180, HDAC1 and HDAC2. Interacts with USP17L2; the interaction is direct. Interacts with FOXK2.

Subcellular location. Nucleus.

Tissue specificity. Expressed in various cancer cell ines.

Post-translational modifications. Polyubiquitinated. ‘Lys-63’-polyubiquitinated SUDS3 positively regulates histone deacetylation. Regulated through deubiquitination by USP17L2/USP17 that cleaves ‘Lys-63’-linked ubiquitin chains.

Domain organisation. The C-terminus is involved in transcriptional repression by HDAC-independent mechanisms.

Similarity. Belongs to the SDS3 family.

RefSeq proteins (1): NP_071936* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR013907	Sds3	Family

Pfam: PF08598

UniProt features (25 total): modified residue 9, compositionally biased region 4, region of interest 4, cross-link 3, sequence conflict 2, initiator methionine 1, chain 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H7L9-F1	79.35	0.52

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 (12): 2, 32, 45, 49, 53, 228, 234, 237, 244, 69, 178, 201

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-5689880	Ub-specific processing proteases
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-392499	Metabolism of proteins
R-HSA-4839726	Chromatin organization
R-HSA-5250941	Negative epigenetic regulation of rRNA expression
R-HSA-5663205	Infectious disease
R-HSA-5688426	Deubiquitination
R-HSA-597592	Post-translational protein modification
R-HSA-74160	Gene expression (Transcription)
R-HSA-9679506	SARS-CoV Infections
R-HSA-9824446	Viral Infection Pathways

MSigDB gene sets: 169 (showing top): MODULE_97, GOBP_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS, GOBP_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS, GOBP_NEURAL_NUCLEUS_DEVELOPMENT, GOBP_REGULATION_OF_TRANSMEMBRANE_RECEPTOR_PROTEIN_SERINE_THREONINE_KINASE_SIGNALING_PATHWAY, GOBP_RESPONSE_TO_TRANSFORMING_GROWTH_FACTOR_BETA, GOBP_SUBSTANTIA_NIGRA_DEVELOPMENT, GOBP_MIDBRAIN_DEVELOPMENT, PYEON_CANCER_HEAD_AND_NECK_VS_CERVICAL_UP, GOBP_MAINTENANCE_OF_CELL_NUMBER, GOBP_REGULATION_OF_STEM_CELL_POPULATION_MAINTENANCE, GOBP_REGULATION_OF_CELLULAR_RESPONSE_TO_TRANSFORMING_GROWTH_FACTOR_BETA_STIMULUS, GOBP_HEAD_DEVELOPMENT, GOBP_RESPONSE_TO_GROWTH_FACTOR, GOBP_NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS

GO Biological Process (11): negative regulation of transcription by RNA polymerase II (GO:0000122), chromatin remodeling (GO:0006338), apoptotic process (GO:0006915), substantia nigra development (GO:0021762), negative regulation of cell migration (GO:0030336), negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512), negative regulation of DNA-templated transcription (GO:0045892), negative regulation of stem cell population maintenance (GO:1902455), positive regulation of stem cell population maintenance (GO:1902459), chromatin organization (GO:0006325), regulation of gene expression (GO:0010468)

GO Molecular Function (4): enzyme binding (GO:0019899), histone deacetylase binding (GO:0042826), histone deacetylase activity (GO:0004407), protein binding (GO:0005515)

GO Cellular Component (5): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytosol (GO:0005829), nuclear body (GO:0016604), Sin3-type complex (GO:0070822)

Reactome top-level categories

Rollup of top-12 pathways:

Category	Pathways
Chromatin modifying enzymes	1
Negative epigenetic regulation of rRNA expression	1
Deubiquitination	1
SARS-CoV Infections	1
Gene expression (Transcription)	1
Chromatin organization	1
Epigenetic regulation of gene expression	1
Disease	1
Post-translational protein modification	1
Metabolism of proteins	1
Viral Infection Pathways	1
Infectious disease	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
stem cell population maintenance	2
regulation of stem cell population maintenance	2
cellular anatomical structure	2
regulation of transcription by RNA polymerase II	1
transcription by RNA polymerase II	1
negative regulation of DNA-templated transcription	1
chromatin organization	1
programmed cell death	1
apoptotic signaling pathway	1
execution phase of apoptosis	1
midbrain development	1
neural nucleus development	1
cell migration	1
regulation of cell migration	1
negative regulation of cell motility	1
transforming growth factor beta receptor signaling pathway	1
regulation of transforming growth factor beta receptor signaling pathway	1
negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway	1
DNA-templated transcription	1
regulation of DNA-templated transcription	1
negative regulation of RNA biosynthetic process	1
negative regulation of developmental process	1
negative regulation of multicellular organismal process	1
positive regulation of developmental process	1
positive regulation of multicellular organismal process	1
cellular component organization	1
gene expression	1
regulation of macromolecule biosynthetic process	1
protein binding	1
enzyme binding	1
protein lysine deacetylase activity	1
histone modifying activity	1
binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cytoplasm	1
nucleoplasm	1
intracellular membraneless organelle	1
histone deacetylase complex	1
nuclear chromosome	1

Protein interactions and networks

STRING

2038 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SUDS3	SAP30	O75446	999
SUDS3	HDAC1	Q13547	996
SUDS3	RBBP4	P31149	995
SUDS3	HDAC2	Q92769	995
SUDS3	SIN3A	Q96ST3	994
SUDS3	SAP18	O00422	994
SUDS3	RBBP7	Q16576	984
SUDS3	SIN3B	O75182	982
SUDS3	ARID4B	Q4LE39	981
SUDS3	ARID4A	P29374	932
SUDS3	HDAC3	O15379	808
SUDS3	HDAC8	Q9BY41	805
SUDS3	MORF4L1	Q9UBU8	786
SUDS3	ING1	Q9UK53	777
SUDS3	SAP30L	Q9HAJ7	698

IntAct

111 interactions, top by confidence:

A	B	Type	Score
HDAC2	KDM1A	psi-mi:“MI:0914”(association)	0.890
HDAC1	CDK2AP1	psi-mi:“MI:0914”(association)	0.840
RBBP7	CDK2AP1	psi-mi:“MI:0914”(association)	0.840
RBBP4	CDK2AP1	psi-mi:“MI:0914”(association)	0.790
HDAC1	TNRC18	psi-mi:“MI:0914”(association)	0.790
HDAC1	ZNF609	psi-mi:“MI:0914”(association)	0.730
RBBP7	HAT1	psi-mi:“MI:0914”(association)	0.730
FOXK2	DVL2	psi-mi:“MI:0914”(association)	0.640
SINHCAF	TNRC18	psi-mi:“MI:0914”(association)	0.640
ZNF704	SAP30	psi-mi:“MI:0914”(association)	0.640
SUDS3	CSNK2A1	psi-mi:“MI:0217”(phosphorylation reaction)	0.590
GOLGA2	SUDS3	psi-mi:“MI:0915”(physical association)	0.560
LDOC1	SUDS3	psi-mi:“MI:0915”(physical association)	0.560
LACC1	DUSP14	psi-mi:“MI:0914”(association)	0.530
FHL2	CNOT1	psi-mi:“MI:0914”(association)	0.530
RBBP4	TNRC18	psi-mi:“MI:0914”(association)	0.530
RBBP7	SMARCA5	psi-mi:“MI:0914”(association)	0.530
RBBP7	EPOP	psi-mi:“MI:0914”(association)	0.530
SAP30	TNRC18	psi-mi:“MI:0914”(association)	0.530

BioGRID (220): SUDS3 (Affinity Capture-Western), SUDS3 (Affinity Capture-Western), CUL4B (Affinity Capture-Western), DDB1 (Affinity Capture-Western), SUDS3 (Co-fractionation), USP17L2 (Affinity Capture-Western), SUDS3 (Reconstituted Complex), SUDS3 (Affinity Capture-Western), SUDS3 (Affinity Capture-MS), SUDS3 (Two-hybrid), SUDS3 (Affinity Capture-MS), SUDS3 (Affinity Capture-MS), SUDS3 (Affinity Capture-MS), SIN3A (Affinity Capture-MS), SIN3B (Affinity Capture-MS)

ESM2 similar proteins: A2VEA3, B1H1E4, D3Z7P3, F1LSG8, O89050, O94925, P13264, P50876, P97834, Q07G17, Q08211, Q12800, Q13042, Q28141, Q28D01, Q2NL67, Q32NS4, Q3MHJ2, Q4R9A8, Q4VC33, Q5F398, Q5NVP9, Q5R532, Q5R874, Q5RB35, Q5RBB8, Q5RBN9, Q5RKJ1, Q6AYU1, Q6GR10, Q6NRT5, Q6NW85, Q6PFJ9, Q7L5Y9, Q7SXR3, Q7Z6J6, Q86TJ2, Q8C6G8, Q8CI71, Q8R349

Diamond homologs: A6H6W9, Q5RBB8, Q8BR65, Q9H7L9

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
CDK5/CDK5R1	“up-regulates activity”	SUDS3	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 103 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
Regulation of TP53 Activity through Acetylation	5	33.6×	3e-05
HDACs deacetylate histones	9	15.9×	2e-06
Regulation of PTEN gene transcription	6	15.7×	1e-04
Potential therapeutics for SARS	8	13.4×	2e-05
Negative Regulation of CDH1 Gene Transcription	7	12.4×	1e-04
Differentiation of naive CD4+ T cells to T helper 2 cells (Th2 cells)	5	10.8×	2e-03
NuRD complex assembly	5	10.4×	3e-03
Interaction of NuRD complexes with transcription factors	5	9.3×	4e-03

GO biological processes:

GO term	Partners	Fold	FDR
negative regulation of stem cell population maintenance	10	81.5×	7e-15
positive regulation of stem cell population maintenance	10	36.6×	4e-11
negative regulation of transforming growth factor beta receptor signaling pathway	10	18.5×	2e-08
negative regulation of cell migration	12	14.2×	7e-09
heterochromatin formation	5	13.6×	2e-03
chromatin remodeling	9	7.0×	4e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	24
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2500 predictions. Top by Δscore:

Variant	Effect	Δscore
12:118376830:GAAG:G	donor_gain	1.0000
12:118376834:G:GG	donor_gain	1.0000
12:118376835:T:A	donor_loss	1.0000
12:118380227:GAACA:G	donor_gain	1.0000
12:118384007:TATA:T	acceptor_loss	1.0000
12:118384010:A:AC	acceptor_loss	1.0000
12:118384010:AG:A	acceptor_gain	1.0000
12:118384011:GG:G	acceptor_gain	1.0000
12:118384011:GGAT:G	acceptor_gain	1.0000
12:118386098:A:AG	acceptor_gain	1.0000
12:118386099:A:G	acceptor_gain	1.0000
12:118391119:T:TA	acceptor_gain	1.0000
12:118391121:CTCA:C	acceptor_loss	1.0000
12:118391122:TCAG:T	acceptor_loss	1.0000
12:118391124:A:AG	acceptor_gain	1.0000
12:118391124:A:G	acceptor_loss	1.0000
12:118391125:G:GC	acceptor_gain	1.0000
12:118391125:GA:G	acceptor_gain	1.0000
12:118391125:GAC:G	acceptor_gain	1.0000
12:118391125:GACT:G	acceptor_gain	1.0000
12:118391279:GGAG:G	donor_gain	1.0000
12:118391280:GAG:G	donor_gain	1.0000
12:118391280:GAGG:G	donor_gain	1.0000
12:118391281:AGG:A	donor_loss	1.0000
12:118391283:G:C	donor_loss	1.0000
12:118391283:G:GG	donor_gain	1.0000
12:118403514:GATG:G	donor_gain	1.0000
12:118411138:GTTCT:G	donor_gain	1.0000
12:118411153:ATGAG:A	donor_loss	1.0000
12:118411154:TGAGG:T	donor_loss	1.0000

AlphaMissense

2161 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:118380165:C:T	T49I	1.000
12:118384016:T:G	Y73D	1.000
12:118384029:T:C	L77P	1.000
12:118384038:T:C	L80P	1.000
12:118384059:T:C	L87P	1.000
12:118386150:T:C	L102P	1.000
12:118386182:G:C	A113P	1.000
12:118391168:G:C	A135P	1.000
12:118391202:T:C	L146P	1.000
12:118391214:T:C	L150P	1.000
12:118391226:T:C	L154P	1.000
12:118391270:G:A	E169K	1.000
12:118391274:T:A	L170Q	1.000
12:118391274:T:C	L170P	1.000
12:118400686:C:T	T182I	1.000
12:118400688:A:G	R183G	1.000
12:118400689:G:C	R183T	1.000
12:118400689:G:T	R183I	1.000
12:118400690:A:C	R183S	1.000
12:118400690:A:T	R183S	1.000
12:118400691:A:G	K184E	1.000
12:118400695:T:C	L185S	1.000
12:118400695:T:G	L185W	1.000
12:118400696:G:C	L185F	1.000
12:118400696:G:T	L185F	1.000
12:118400697:C:G	R186G	1.000
12:118400697:C:T	R186W	1.000
12:118400698:G:A	R186Q	1.000
12:118400698:G:T	R186L	1.000
12:118400700:A:G	R187G	1.000

dbSNP variants (sampled 300 via entrez): RS1000074616 (12:118414642 A>G), RS1000118258 (12:118387495 G>A), RS1000126403 (12:118414950 C>G), RS1000183597 (12:118403420 T>C), RS1000334722 (12:118397220 G>A), RS1000425112 (12:118408590 T>C), RS1000506054 (12:118385696 G>A), RS1000664541 (12:118391582 C>T), RS1000666697 (12:118397300 C>T), RS1000752314 (12:118384837 A>G), RS1000789283 (12:118397565 C>G), RS1000971627 (12:118380287 T>C), RS1001079514 (12:118413053 T>A), RS1001121975 (12:118386069 G>A,C), RS1001131098 (12:118401940 A>C)

Disease associations

OMIM: gene MIM:608250 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

7 associations (top):

Study	Trait	p-value
GCST001378_5	Hemostatic factors and hematological phenotypes	6.000000e-06
GCST002472_1	Morphine dose requirement in tonsillectomy and adenoidectomy surgery	3.000000e-07
GCST002589_18	Hippocampal sclerosis	4.000000e-06
GCST002726_17	Glucose homeostasis traits	2.000000e-06
GCST003445_9	Response to cyclophosphamide in systemic lupus erythematosus with lupus nephritis	4.000000e-06
GCST003771_19	Loneliness	8.000000e-06
GCST003772_17	Loneliness (linear analysis)	5.000000e-06

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0004503	hematological measurement
EFO:0004637	protein S measurement
EFO:0004471	insulin sensitivity measurement
EFO:0007865	loneliness measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5725030 (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	Kd	80	nM	MOLIBRESIB
6.82	IC50	150	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	2179245: Binding affinity against SUDS3 (unknown origin) assessed as apparent dissociation constant incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis	kd	0.0800	uM

CTD chemical–gene interactions

25 total (human), top 25 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases methylation, increases expression	2
Cyclosporine	decreases expression, increases methylation	2
aristolochic acid I	decreases expression	1
FR900359	affects phosphorylation	1
TAK-243	decreases sumoylation	1
triphenyl phosphate	affects expression	1
pirinixic acid	increases expression, affects binding, increases activity	1
manganese chloride	decreases expression, increases abundance	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
corosolic acid	decreases expression	1
Bortezomib	increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Air Pollutants	affects expression, increases abundance	1
Atrazine	increases expression	1
Caffeine	increases phosphorylation	1
Estradiol	increases phosphorylation	1
Formaldehyde	decreases expression	1
Manganese	decreases expression, increases abundance	1
Ozone	increases abundance, affects expression	1
Plant Extracts	affects cotreatment, increases expression	1
Tretinoin	decreases expression	1
Aflatoxin B1	increases methylation	1
Antirheumatic Agents	increases expression	1
Cadmium Chloride	decreases 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
CHEMBL5697787	Binding	Inhibition of SUDS3 (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.