SFMBT1

Summary

SFMBT1 (Scm like with four mbt domains 1, HGNC:20255) is a protein-coding gene on chromosome 3p21.1, encoding Scm-like with four MBT domains protein 1 (Q9UHJ3). Histone-binding protein, which is part of various corepressor complexes.

This gene shares high similarity with the Drosophila Scm (sex comb on midleg) gene. It encodes a protein which contains four malignant brain tumor repeat (mbt) domains and may be involved in antigen recognition.

Source: NCBI Gene 51460 — RefSeq curated summary.

At a glance

• GWAS associations: 47
• Clinical variants (ClinVar): 27 total
• Druggable target: yes
• MANE Select transcript: NM_016329

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20255
Approved symbol	SFMBT1
Name	Scm like with four mbt domains 1
Location	3p21.1
Locus type	gene with protein product
Status	Approved
Aliases	RU1, DKFZp434L243, SFMBT
Ensembl gene	ENSG00000163935
Ensembl biotype	protein_coding
OMIM	607319
Entrez	51460

Gene structure

Transcript identifiers

Ensembl transcripts: 20 — 16 protein_coding, 3 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000394752, ENST00000470575, ENST00000474837, ENST00000482396, ENST00000483069, ENST00000485494, ENST00000492146, ENST00000497586, ENST00000904733, ENST00000904734, ENST00000904735, ENST00000904736, ENST00000904737, ENST00000904738, ENST00000904739, ENST00000928409, ENST00000928410, ENST00000928411, ENST00000928412, ENST00000958303

RefSeq mRNA: 1 — MANE Select: NM_016329 NM_016329

CCDS: CCDS2867

Canonical transcript exons

ENST00000394752 — 21 exons

Exon	Start	End
ENSE00001079785	52907069	52907314
ENSE00001079786	52911003	52911178
ENSE00001079787	52913478	52913617
ENSE00001079788	52930941	52931035
ENSE00001079790	52918484	52918526
ENSE00001079791	52912538	52912647
ENSE00001079792	52928191	52928341
ENSE00001079793	52921705	52921831
ENSE00001079794	52907555	52907733
ENSE00001079795	52920537	52920650
ENSE00001079796	52932062	52932308
ENSE00001079797	52916150	52916214
ENSE00001079798	52930329	52930430
ENSE00001079799	52906113	52906241
ENSE00001079802	52934813	52934901
ENSE00001263908	52954317	52954411
ENSE00001812650	52903572	52905276
ENSE00001931148	53045816	53046073
ENSE00003602396	52969101	52969258
ENSE00003617451	52926031	52926113
ENSE00003788070	52943353	52943593

Expression profiles

Bgee: expression breadth ubiquitous, 235 present calls, max score 94.55.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.9422 / max 215.6569, expressed in 1488 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
42495	3.1972	1115
42494	2.4337	1031
42493	0.5984	259
42496	0.3993	203
42497	0.2528	127
42492	0.0607	22

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sperm	CL:0000019	94.55	gold quality
male germ cell	CL:0000015	93.52	gold quality
sural nerve	UBERON:0015488	90.01	gold quality
oocyte	CL:0000023	90.00	gold quality
left testis	UBERON:0004533	89.60	gold quality
secondary oocyte	CL:0000655	89.19	gold quality
right testis	UBERON:0004534	89.12	gold quality
testis	UBERON:0000473	88.88	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	87.91	gold quality
adult organism	UBERON:0007023	86.36	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	86.25	gold quality
gastrocnemius	UBERON:0001388	83.84	gold quality
muscle of leg	UBERON:0001383	83.48	gold quality
islet of Langerhans	UBERON:0000006	82.86	gold quality
muscle organ	UBERON:0001630	81.74	gold quality
pancreas	UBERON:0001264	80.89	gold quality
calcaneal tendon	UBERON:0003701	80.72	gold quality
tongue squamous epithelium	UBERON:0006919	80.31	gold quality
bone marrow cell	CL:0002092	80.10	gold quality
tonsil	UBERON:0002372	79.92	gold quality
rectum	UBERON:0001052	79.70	gold quality
body of pancreas	UBERON:0001150	79.44	gold quality
hindlimb stylopod muscle	UBERON:0004252	79.20	gold quality
pancreatic ductal cell	CL:0002079	79.01	silver quality
tibialis anterior	UBERON:0001385	78.95	silver quality
skeletal muscle tissue	UBERON:0001134	78.56	gold quality
deltoid	UBERON:0001476	78.54	silver quality
cervix squamous epithelium	UBERON:0006922	78.34	gold quality
squamous epithelium	UBERON:0006914	77.89	silver quality
mucosa of urinary bladder	UBERON:0001259	77.82	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.14

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): MYC, MYOD1

miRNA regulators (miRDB)

197 targeting SFMBT1, 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-196A-5P	100.00	68.16	684
HSA-MIR-196B-5P	100.00	68.16	681
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-4534	99.99	66.58	1907
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-MIR-98-5P	99.98	72.33	1787
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-485-3P	99.98	70.68	1585
HSA-MIR-539-3P	99.98	70.74	1616
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-512-3P	99.97	67.35	1049
HSA-MIR-607	99.97	73.62	5593
HSA-LET-7D-5P	99.96	71.76	1632
HSA-MIR-4458	99.96	71.64	1650

Literature-anchored findings (GeneRIF, showing 12)

• The tandem MBT repeats form a functional structure required for biological activity of hSFMBT and predict similar properties for other MBT domain-containing proteins. (PMID:17599839)
• A segmental copy number loss of the SFMBT1 gene may be involved in the pathological process in some individuals with ventriculomegaly/idiopathic normal pressure hydrocephalus. (PMID:21325761)
• Data identified IGF1, SLC4A4, WWOX, and SFMBT1 as hypertension susceptibility genes by gene based association scan and gene expression analysis. (PMID:22479346)
• novel mechanisms accounting for SFMBT1-mediated transcription repression and revealed an essential role of Sfmbt1 in regulating MyoD-mediated transcriptional silencing (PMID:23349461)
• When bound to its gene targets, SFMBT1 recruits its associated proteins and causes chromatin compaction and transcriptional repression (PMID:23592795)
• The malignant brain tumor (MBT) domain protein SFMBT1 is an integral histone reader subunit of the LSD1 demethylase complex for chromatin association and epithelial-to-mesenchymal transition. (PMID:23928305)
• The present study demonstrates that a copy number loss within intron 2 of the SFMBT1 gene may be a genetic risk factor for shunt-responsive definite iNPH. (PMID:27861535)
• copy number variation analysis identified deletions in SFMBT1 associated with fasting plasma glucose in a Han Chinese population (PMID:28789618)
• SFMBT1 knockdown was demonstrated to inhibit cell growth and induced apoptosis, which was consistent with the function of miR-20a- 3p upregulation in HaCaT cells. (PMID:29886071)
• High SFMBT1 expression is associated with clear cell renal cell carcinomas. (PMID:32023483)
• Multi-omics analysis to identify susceptibility genes for colorectal cancer. (PMID:33481017)
• Regulatory Variant rs2535629 in ITIH3 Intron Confers Schizophrenia Risk By Regulating CTCF Binding and SFMBT1 Expression. (PMID:34978167)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	SFMBT1	ENSDARG00000109830
mus_musculus	Sfmbt1	ENSMUSG00000006527
rattus_norvegicus	Sfmbt1	ENSRNOG00000016645
drosophila_melanogaster	l(3)mbt	FBGN0002441
drosophila_melanogaster	Sfmbt	FBGN0032475
caenorhabditis_elegans	lin-61	WBGENE00003041
caenorhabditis_elegans	mbtr-1	WBGENE00021661

Paralogs (18): SCMH1 (ENSG00000010803), MBTD1 (ENSG00000011258), SCML1 (ENSG00000047634), L3MBTL2 (ENSG00000100395), SCML2 (ENSG00000102098), PHC1 (ENSG00000111752), THAP10 (ENSG00000129028), PHC2 (ENSG00000134686), SAMD1 (ENSG00000141858), SCML4 (ENSG00000146285), L3MBTL4 (ENSG00000154655), PHC3 (ENSG00000173889), L3MBTL1 (ENSG00000185513), SAMD7 (ENSG00000187033), SAMD11 (ENSG00000187634), SFMBT2 (ENSG00000198879), L3MBTL3 (ENSG00000198945), SAMD13 (ENSG00000203943)

Protein

Protein identifiers

Scm-like with four MBT domains protein 1 — Q9UHJ3 (reviewed: Q9UHJ3)

Alternative names: Renal ubiquitous protein 1

All UniProt accessions (4): C9IY64, C9IZZ5, C9JWI3, Q9UHJ3

UniProt curated annotations — full annotation on UniProt →

Function. Histone-binding protein, which is part of various corepressor complexes. Mediates the recruitment of corepressor complexes to target genes, followed by chromatin compaction and repression of transcription. Plays a role during myogenesis: required for the maintenance of undifferentiated states of myogenic progenitor cells via interaction with MYOD1. Interaction with MYOD1 leads to the recruitment of associated corepressors and silencing of MYOD1 target genes. Part of the SLC complex in germ cells, where it may play a role during spermatogenesis.

Subunit / interactions. Interacts with MYOD1. Component of the SLC (SFMBT1-LSD1-CoREST) corepressor complex, which also contains KDM1A/LSD1 and RCOR1/CoREST. Interacts with KDM1A/LSD1 and RCOR1/CoREST. Interacts with L3MBTL3.

Subcellular location. Nucleus.

Tissue specificity. Expressed in all cell lines and normal tissues tested, including the thymus.

Domain organisation. The MBT repeats mediate binding to histones tails; however, in contrast to other MBT repeats, does not bind specific histone lysine modifications. The MBT repeats lack the conserved Asp and aromatic cage at conserved positions.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9UHJ3-1	1	yes
Q9UHJ3-2	2

RefSeq proteins (1): NP_057413* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001660	SAM	Domain
IPR004092	Mbt	Domain
IPR013761	SAM/pointed_sf	Homologous_superfamily
IPR021987	SLED	Domain
IPR037604	Scm-like-4MBT1/2_SAM	Domain
IPR038348	SLED_sf	Homologous_superfamily
IPR047351	MBT_SFMBT1_rpt3	Repeat
IPR047352	MBT_SFMBT1_rpt2	Repeat
IPR050548	PcG_chromatin_remod_factors	Family

Pfam: PF00536, PF02820, PF12140

UniProt features (21 total): compositionally biased region 5, repeat 4, mutagenesis site 3, modified residue 2, sequence conflict 2, region of interest 2, chain 1, splice variant 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UHJ3-F1	74.62	0.37

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): 767, 775

Mutagenesis-validated functional residues (3):

Position	Phenotype
173	reduced histone-binding.
180	abolishes histone-binding.
196	reduced histone-binding.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 210 (showing top): GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_DN, E2F_Q4_01, DACOSTA_UV_RESPONSE_VIA_ERCC3_XPCS_DN, TGCACTT_MIR519C_MIR519B_MIR519A, BROWNE_HCMV_INFECTION_16HR_UP, GOBP_MALE_GAMETE_GENERATION, GOBP_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS, GOBP_MUSCLE_STRUCTURE_DEVELOPMENT, DACOSTA_UV_RESPONSE_VIA_ERCC3_TTD_DN, BILD_E2F3_ONCOGENIC_SIGNATURE, TGACATY_UNKNOWN, GOBP_NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION, CUI_TCF21_TARGETS_2_DN, E2F_Q6_01

GO Biological Process (6): chromatin organization (GO:0006325), spermatogenesis (GO:0007283), cell differentiation (GO:0030154), negative regulation of DNA-templated transcription (GO:0045892), negative regulation of muscle organ development (GO:0048635), regulation of DNA-templated transcription (GO:0006355)

GO Molecular Function (4): chromatin binding (GO:0003682), transcription corepressor activity (GO:0003714), histone binding (GO:0042393), protein binding (GO:0005515)

GO Cellular Component (2): nucleus (GO:0005634), nucleoplasm (GO:0005654)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
DNA-templated transcription	2
binding	2
cellular component organization	1
developmental process involved in reproduction	1
male gamete generation	1
cellular developmental process	1
regulation of DNA-templated transcription	1
negative regulation of RNA biosynthetic process	1
muscle organ development	1
regulation of muscle organ development	1
negative regulation of developmental process	1
negative regulation of multicellular organismal process	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
transcription coregulator activity	1
negative regulation of DNA-templated transcription	1
protein binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cellular anatomical structure	1

Protein interactions and networks

STRING

984 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SFMBT1	YY1	P25490	786
SFMBT1	PSMB8	P28062	778
SFMBT1	PSMB9	P28065	736
SFMBT1	RYBP	Q8N488	610
SFMBT1	RCOR1	Q9UKL0	582
SFMBT1	GPKOW	Q92917	560
SFMBT1	KDM1A	O60341	554
SFMBT1	TMEM171	Q8WVE6	538
SFMBT1	L3MBTL1	Q9Y468	523
SFMBT1	B3GNT4	Q9C0J1	497
SFMBT1	PHF21A	Q96BD5	491
SFMBT1	NLN	Q9BYT8	478
SFMBT1	UBE2Q2	Q8WVN8	476
SFMBT1	L3MBTL3	Q96JM7	475
SFMBT1	GRIK5	Q16478	462

IntAct

48 interactions, top by confidence:

A	B	Type	Score
HDAC1	TNRC18	psi-mi:“MI:0914”(association)	0.790
KIF22	KPNA4	psi-mi:“MI:0914”(association)	0.730
HMG20A	KDM1A	psi-mi:“MI:0914”(association)	0.730
HDAC1	ZNF609	psi-mi:“MI:0914”(association)	0.730
SFMBT1	ZCCHC10	psi-mi:“MI:0915”(physical association)	0.720
ZCCHC10	SFMBT1	psi-mi:“MI:0915”(physical association)	0.720
PHC2	SFMBT1	psi-mi:“MI:0915”(physical association)	0.670
SFMBT1	PHC2	psi-mi:“MI:0915”(physical association)	0.670
L3MBTL3	SAMD13	psi-mi:“MI:0914”(association)	0.640
ATOSB	SFMBT1	psi-mi:“MI:0915”(physical association)	0.560
SCMH1	SFMBT1	psi-mi:“MI:0915”(physical association)	0.560
HOXB9	SFMBT1	psi-mi:“MI:0915”(physical association)	0.560
SPANXN2	SFMBT1	psi-mi:“MI:0915”(physical association)	0.560
SFMBT1	H3-4	psi-mi:“MI:0915”(physical association)	0.560
L3MBTL3	P4HA1	psi-mi:“MI:0914”(association)	0.530
SFMBT1	KDM1A	psi-mi:“MI:0914”(association)	0.530
CLNK	SFMBT1	psi-mi:“MI:0915”(physical association)	0.490
SFMBT1	CLNK	psi-mi:“MI:0915”(physical association)	0.490
ZMYM2	HDAC3	psi-mi:“MI:0914”(association)	0.480
SFMBT1	H4C16	psi-mi:“MI:0914”(association)	0.460
SFMBT1	SRPK1	psi-mi:“MI:0217”(phosphorylation reaction)	0.440
SFMBT1	PSMA1	psi-mi:“MI:0915”(physical association)	0.370
PHC1	SFMBT1	psi-mi:“MI:0915”(physical association)	0.370
ACP1	SFMBT1	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (72): SFMBT1 (Two-hybrid), ZCCHC10 (Two-hybrid), SFMBT1 (Two-hybrid), SFMBT1 (Two-hybrid), SFMBT1 (Two-hybrid), SFMBT1 (Two-hybrid), SFMBT1 (Affinity Capture-MS), SFMBT1 (Affinity Capture-MS), SFMBT1 (Affinity Capture-MS), SFMBT1 (Affinity Capture-MS), SFMBT1 (Affinity Capture-MS), SFMBT1 (Affinity Capture-MS), DYNLL1 (Affinity Capture-MS), DYNLL2 (Affinity Capture-MS), GSE1 (Affinity Capture-MS)

ESM2 similar proteins: A0JM98, A1L1H3, A6NAF9, A6QLE1, A9CPT4, B5MCY1, D2H0H6, D2H3M0, D4A7V9, E1BPH3, E1C3S7, E2QTD3, E2RDV1, E7FDW8, F1R237, O60522, P57075, P61407, P97874, Q14B46, Q1L981, Q4R3G4, Q58EK5, Q5DTW2, Q5JTW2, Q5M7P8, Q5RAH6, Q5VCS6, Q5VZ19, Q5XGX5, Q61846, Q68DX3, Q6NU04, Q80VK6, Q8K1H1, Q8NAT2, Q8NHU6, Q90WE3, Q99KY4, Q99MV1

Diamond homologs: A2A5N8, B1B1A0, D3YUG0, D3YXK1, D3ZWK4, E1C2V1, O02274, O60284, O95251, P39769, P59178, P70047, P70475, P78364, P97500, Q01538, Q05BQ5, Q1JQD9, Q1RNF8, Q29L50, Q32N90, Q3MIF2, Q4V7W5, Q5DTW2, Q5R737, Q5SVQ0, Q5VUG0, Q5VXD3, Q64028, Q6DIN3, Q6P5G3, Q6SPE9, Q6SPF0, Q7Z3H4, Q80TY4, Q810T5, Q8BLB7, Q8C8Y5, Q8CFC2, Q8CHP6

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 36 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
RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known	5	62.6×	1e-06
Regulation of PTEN gene transcription	7	52.0×	1e-08
Differentiation of naive CD4+ T cells to T helper 2 cells (Th2 cells)	6	36.6×	1e-06
SUMOylation of chromatin organization proteins	5	33.0×	2e-05
HDACs deacetylate histones	5	25.0×	8e-05
Oxidative Stress Induced Senescence	5	18.9×	2e-04

GO biological processes:

GO term	Partners	Fold	FDR
chromatin organization	9	27.9×	6e-09

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	1
Likely benign	1
Benign	5

Top pathogenic / likely-pathogenic (0)

SpliceAI

4461 predictions. Top by Δscore:

Variant	Effect	Δscore
3:52906252:C:CT	acceptor_gain	1.0000
3:52906257:C:CT	acceptor_gain	1.0000
3:52907220:T:TA	donor_gain	1.0000
3:52907310:CTTCC:C	acceptor_gain	1.0000
3:52907313:CC:C	acceptor_gain	1.0000
3:52907314:CC:C	acceptor_gain	1.0000
3:52911046:AT:A	donor_gain	1.0000
3:52912536:A:AC	donor_gain	1.0000
3:52912537:C:CC	donor_gain	1.0000
3:52912537:CTTGG:C	donor_gain	1.0000
3:52916213:CT:C	acceptor_gain	1.0000
3:52918482:A:AC	donor_gain	1.0000
3:52918483:C:CC	donor_gain	1.0000
3:52918525:TA:T	acceptor_gain	1.0000
3:52918527:C:CC	acceptor_gain	1.0000
3:52920533:ATAC:A	donor_loss	1.0000
3:52920534:TAC:T	donor_loss	1.0000
3:52920536:CCTCG:C	donor_loss	1.0000
3:52920538:T:TA	donor_gain	1.0000
3:52920661:T:C	acceptor_gain	1.0000
3:52921698:CACT:C	donor_loss	1.0000
3:52921699:ACTC:A	donor_loss	1.0000
3:52921700:CTCA:C	donor_loss	1.0000
3:52921701:TCA:T	donor_loss	1.0000
3:52921702:CA:C	donor_loss	1.0000
3:52921703:A:AC	donor_gain	1.0000
3:52921703:A:AT	donor_loss	1.0000
3:52921703:AC:A	donor_gain	1.0000
3:52921703:ACCCT:A	donor_gain	1.0000
3:52921704:C:CC	donor_gain	1.0000

AlphaMissense

5696 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:52905191:A:G	L849P	1.000
3:52905233:A:T	V835D	1.000
3:52905266:C:T	G824E	1.000
3:52905267:C:A	G824W	1.000
3:52906187:A:G	W796R	1.000
3:52906187:A:T	W796R	1.000
3:52911013:C:A	K632N	1.000
3:52911013:C:G	K632N	1.000
3:52911028:A:C	C627W	1.000
3:52911029:C:A	C627F	1.000
3:52911029:C:G	C627S	1.000
3:52911029:C:T	C627Y	1.000
3:52911030:A:G	C627R	1.000
3:52911030:A:T	C627S	1.000
3:52911041:C:G	C623S	1.000
3:52911042:A:G	C623R	1.000
3:52911042:A:T	C623S	1.000
3:52911071:A:G	L613P	1.000
3:52911079:A:C	C610W	1.000
3:52911080:C:T	C610Y	1.000
3:52911081:A:G	C610R	1.000
3:52911082:G:C	C609W	1.000
3:52911084:A:G	C609R	1.000
3:52911089:A:G	L607P	1.000
3:52911097:A:C	C604W	1.000
3:52911098:C:T	C604Y	1.000
3:52911111:A:G	C600R	1.000
3:52912622:G:T	A549D	1.000
3:52913524:A:G	L525P	1.000
3:52913541:T:A	K519N	1.000

dbSNP variants (sampled 300 via entrez): RS1000001907 (3:52973861 C>T), RS1000008236 (3:52975803 T>C), RS1000021451 (3:53018671 C>G,T), RS1000095138 (3:52969453 G>A), RS1000108987 (3:52925009 T>C), RS1000150029 (3:53011882 T>C,G), RS1000162535 (3:52981924 G>A,C), RS1000261714 (3:52974148 C>A), RS1000289232 (3:52962060 G>C), RS1000299582 (3:52932439 T>A,C), RS1000311503 (3:52960169 A>G), RS1000345661 (3:53029990 A>C), RS1000380864 (3:53032199 A>C,G), RS1000393459 (3:52988155 C>A,T), RS1000399544 (3:53030311 G>A)

Disease associations

OMIM: gene MIM:607319 | disease phenotypes: MIM:189800

GenCC curated gene-disease

Mondo (1): preeclampsia (MONDO:0005081)

Orphanet (1): Preeclampsia (Orphanet:275555)

HPO phenotypes

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

GWAS associations

47 associations (top):

Study	Trait	p-value
GCST001241_15	Bipolar disorder	2.000000e-06
GCST001791_39	Urate levels	3.000000e-16
GCST002149_14	Schizophrenia	1.000000e-08
GCST004125_5	Type 2 diabetes (age of onset)	8.000000e-06
GCST004521_123	Autism spectrum disorder or schizophrenia	3.000000e-12
GCST004521_203	Autism spectrum disorder or schizophrenia	4.000000e-08
GCST004521_259	Autism spectrum disorder or schizophrenia	6.000000e-09
GCST004946_141	Schizophrenia	5.000000e-13
GCST005316_133	Intelligence (MTAG)	1.000000e-08
GCST005830_115	Hand grip strength	1.000000e-10
GCST005983_44	Serum uric acid levels	4.000000e-09
GCST006269_301	General cognitive ability	2.000000e-12
GCST006269_305	General cognitive ability	4.000000e-12
GCST006396_4	Disrupted circadian rhythm (low relative amplitude of rest-activity cycles)	1.000000e-06
GCST007725_29	Serum uric acid levels	3.000000e-12
GCST007733_42	Serum uric acid levels	5.000000e-18
GCST007733_54	Serum uric acid levels	9.000000e-12
GCST007916_4	Hyperuricemia	2.000000e-16
GCST007917_4	Estimated glomerular filtration rate	2.000000e-16
GCST007918_5	Serum uric acid levels	2.000000e-16
GCST007919_13	Creatinine levels	2.000000e-16
GCST007920_9	Chronic kidney disease	2.000000e-16
GCST008053_110	Height	2.000000e-08
GCST008058_33	Estimated glomerular filtration rate	7.000000e-11
GCST008162_72	Hip circumference	1.000000e-06
GCST008163_445	Height	4.000000e-06
GCST008550_19	Mental health study participation (completed survey)	2.000000e-08
GCST008839_19	Height	1.000000e-16
GCST008970_3	Gout	2.000000e-09
GCST008971_124	Urate levels	5.000000e-35

EFO canonical traits (9, from GWAS)

EFO ID	Trait name
EFO:0004531	urate measurement
EFO:0004337	intelligence
EFO:0006941	grip strength measurement
EFO:0004761	uric acid measurement
EFO:0009104	hyperuricemia
EFO:0010130	health study participation
EFO:0004327	electrocardiography
EFO:0007789	BMI-adjusted waist circumference
EFO:0007788	BMI-adjusted waist-hip ratio

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D011225	Pre-Eclampsia	C12.050.703.395.249

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL1764944 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects cotreatment, decreases expression, decreases methylation	2
Panobinostat	decreases expression, affects cotreatment	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Aflatoxin B1	decreases methylation	2
aristolochic acid I	decreases expression	1
bisphenol F	increases methylation	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
sodium arsenate	increases abundance, increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
sodium arsenite	increases expression	1
benzo(e)pyrene	decreases methylation	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
aflatoxin B2	decreases methylation	1
coumarin	decreases phosphorylation	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
jinfukang	decreases expression, affects cotreatment	1
(+)-JQ1 compound	decreases expression	1
Sunitinib	increases expression	1
Air Pollutants	increases abundance, increases expression	1
Arsenic	increases abundance, increases expression	1
Benzo(a)pyrene	increases methylation	1
Caffeine	increases phosphorylation	1
Cisplatin	affects cotreatment, decreases expression	1
Dexamethasone	affects cotreatment, decreases expression	1
Indomethacin	affects cotreatment, decreases expression	1

ChEMBL screening assays

6 unique, capped per target: 6 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL1767461	Binding	Binding affinity to human SFMBT by chemiluminescent assay	Small-molecule ligands of methyl-lysine binding proteins. — J Med Chem

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00117546	PHASE4	UNKNOWN	Cardiovascular and Autonomic Reactivity in Women With a History of Pre-eclampsia
NCT00567957	PHASE4	UNKNOWN	Remifentanil for General Anesthesia in Preeclamptics
NCT01030627	PHASE4	COMPLETED	Treatment Approaches to Preeclampsia
NCT01352234	PHASE4	COMPLETED	Comparison of Doses of Acetylsalicylic Acid in Women With Previous History of Preeclampsia
NCT01361425	PHASE4	UNKNOWN	Anti-Hypertensive Treatment In Stable Pregnant Women With Severe Pre-Eclampsia (Metildopape)
NCT01729468	PHASE4	COMPLETED	Prevention of Pre-eclampsia and SGA by Low-Dose Aspirin in Nulliparous Women With Abnormal First-trimester Uterine Artery Dopplers
NCT01761916	PHASE4	COMPLETED	Clonidine Versus Captopril for Treatment of Postpartum Very High Blood Pressure
NCT01912677	PHASE4	COMPLETED	Oral Antihypertensive Regimens for Management of Hypertension in Pregnancy
NCT02025426	PHASE4	TERMINATED	Phenylephrine Versus Ephedrine in Pre-eclampsia
NCT02091401	PHASE4	COMPLETED	A Trial Comparing Treatment With the Springfusor Infusion Pump to the IV Magnesium Sulfate Regimen
NCT02163655	PHASE4	COMPLETED	Diuretics for Postpartum High Blood Pressure in Preeclampsia
NCT02338687	PHASE4	COMPLETED	Low Dose Calcium to Prevent Preeclampsia
NCT02396030	PHASE4	TERMINATED	Different Schemes of Magnesium Sulfate for Preeclampsia
NCT02531490	PHASE4	UNKNOWN	Early Vascular Adjustments During Hypertensive Pregnancy
NCT02699827	PHASE4	COMPLETED	Adding MgSO4 to Epidural Levobupivacaine in CS for Patients With Preeclampsia
NCT02835339	PHASE4	COMPLETED	Magnesium Sulfate in Obese Preeclamptics
NCT02891174	PHASE4	COMPLETED	The Effect of Ibuprofen on Post-partum Blood Pressure in Women With Hypertensive Disorders of Pregnancy
NCT02911701	PHASE4	COMPLETED	Effect of Acetaminophen on Postpartum Blood Pressure Control in Preeclampsia With Severe Features
NCT03171480	PHASE4	COMPLETED	Use of Nitrous Oxide Donor for Labor Induction in Women With PreEclampsia
NCT03233880	PHASE4	UNKNOWN	Impact of Antichlamydial Treatment on the Rate of Preeclampsia
NCT03237000	PHASE4	UNKNOWN	Effect of Administering Intravenous Magnesium Sulfate on Fetal Cardiotocography and Neonatal Outcome in Preeclamptic Patients
NCT03506724	PHASE4	COMPLETED	Response to Anti-hypertensives in Pregnant and Postpartum Patients
NCT03674606	PHASE4	COMPLETED	Trial of Early Screening Test for Pre-eclampsia and Growth Restriction
NCT03735433	PHASE4	TERMINATED	The Effect of Two Aspirin Dosing Strategies for Obese Women at High Risk for Preeclampsia
NCT03824119	PHASE4	UNKNOWN	Postpartum NSAIDS and Maternal Hypertension
NCT04051567	PHASE4	UNKNOWN	Low-dose Aspirin for Prevention of Adverse Pregnancy Outcomes in Twin Pregnancies
NCT04077853	PHASE4	COMPLETED	Progesterone in Expectantly Managed Early-onset Preeclampsia
NCT04158830	PHASE4	WITHDRAWN	Aspirin (ASA) Therapy and Preeclampsia Prevention
NCT04424693	PHASE4	UNKNOWN	Comparing the Incidence of Preeclampsia Between Pregnant Women Receiving Tdap Vaccinations at Week 28 or at Week 36
NCT04631627	PHASE4	UNKNOWN	Early Prediction and Randomised Prevention of Preeclampsia With Low Dose Aspirin in Chinese Cohort
NCT04656665	PHASE4	UNKNOWN	The Effectiveness of Aspirin on Preventing Pre-eclampsia
NCT04797949	PHASE4	WITHDRAWN	Adherence to Universal Aspirin Compared to Screening Indicated Aspirin for Prevention of Preeclampsia
NCT04908982	PHASE4	UNKNOWN	Aspirin for the Prevention of Preeclampsia in Women With Stage 1 Hypertension
NCT05221164	PHASE4	UNKNOWN	162 mg of Aspirin for Prevention of Preeclampsia
NCT05294952	PHASE4	UNKNOWN	co Ihibtory Receptor in Preeclampsia
NCT05514847	PHASE4	ACTIVE_NOT_RECRUITING	Low Dose Aspirin for Preterm Preeclampsia Preventionmg/day Dose in High-risk Patients
NCT05586373	PHASE4	COMPLETED	Ibuprofen vs Dipyrone After C-section in Preeclampsia
NCT06069102	PHASE4	COMPLETED	Optimal Blood Pressure Treatment Thresholds Postpartum
NCT06107335	PHASE4	NOT_YET_RECRUITING	Effect of Albumin Versus Routine Care on Hemodynamic Response and Stability in Patients With Preeclampsia Guided by a Non-invasive Hemodynamic Monitoring System During Cesarean Delivery With Spinal Anesthesia
NCT06281665	PHASE4	RECRUITING	Treatment With Aspirin After Preeclampsia: TAP Trial