EMG1

Summary

EMG1 (EMG1 N1-specific pseudouridine methyltransferase, HGNC:16912) is a protein-coding gene on chromosome 12p13.31, encoding Ribosomal RNA small subunit methyltransferase NEP1 (Q92979). S-adenosyl-L-methionine-dependent pseudouridine N(1)-methyltransferase that methylates pseudouridine at position 1248 (Psi1248) in 18S rRNA. It is a selective cancer dependency (DepMap: 51.4% of cell lines).

This gene encodes an essential, conserved eukaryotic protein that methylates pseudouridine in 18S rRNA. The related protein in yeast is a component of the small subunit processome and is essential for biogenesis of the ribosomal 40S subunit. A mutation in this gene has been associated with Bowen-Conradi syndrome. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 10436 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Bowen-Conradi syndrome (Strong, ClinGen)
• Clinical variants (ClinVar): 92 total — 1 pathogenic
• Phenotypes (HPO): 23
• Druggable target: yes
• Cancer dependency (DepMap): dependent in 51.4% of screened cell lines
• MANE Select transcript: NM_006331

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16912
Approved symbol	EMG1
Name	EMG1 N1-specific pseudouridine methyltransferase
Location	12p13.31
Locus type	gene with protein product
Status	Approved
Aliases	C2F, NEP1, Grcc2f
Ensembl gene	ENSG00000126749
Ensembl biotype	protein_coding
OMIM	611531
Entrez	10436

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 12 protein_coding, 2 retained_intron

ENST00000539196, ENST00000599672, ENST00000611981, ENST00000620255, ENST00000925391, ENST00000925392, ENST00000925393, ENST00000925394, ENST00000925395, ENST00000925396, ENST00000925397, ENST00000925398, ENST00000960685, ENST00000960686

RefSeq mRNA: 2 — MANE Select: NM_006331 NM_001320049, NM_006331

CCDS: CCDS73430

Canonical transcript exons

ENST00000599672 — 6 exons

Exon	Start	End
ENSE00002976204	6975696	6979936
ENSE00003144057	6970913	6971091
ENSE00004475303	6975090	6975148
ENSE00004475308	6974552	6974693
ENSE00004475310	6975229	6975378
ENSE00004475311	6974339	6974440

Expression profiles

Bgee: expression breadth ubiquitous, 281 present calls, max score 94.08.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 39.0042 / max 234.4669, expressed in 1825 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
123873	38.2635	1825
123872	0.7407	448

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
islet of Langerhans	UBERON:0000006	94.08	gold quality
mucosa of transverse colon	UBERON:0004991	92.83	gold quality
stromal cell of endometrium	CL:0002255	92.29	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	91.97	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	91.77	gold quality
cartilage tissue	UBERON:0002418	91.37	gold quality
hindlimb stylopod muscle	UBERON:0004252	91.32	gold quality
esophagus mucosa	UBERON:0002469	90.87	gold quality
heart left ventricle	UBERON:0002084	90.83	gold quality
right adrenal gland	UBERON:0001233	90.67	gold quality
cardiac ventricle	UBERON:0002082	90.67	gold quality
right lobe of thyroid gland	UBERON:0001119	90.64	gold quality
vermiform appendix	UBERON:0001154	90.60	gold quality
granulocyte	CL:0000094	90.57	gold quality
left uterine tube	UBERON:0001303	90.38	gold quality
left lobe of thyroid gland	UBERON:0001120	90.32	gold quality
oocyte	CL:0000023	90.20	gold quality
heart	UBERON:0000948	90.11	gold quality
ectocervix	UBERON:0012249	90.09	gold quality
left adrenal gland	UBERON:0001234	90.07	gold quality
tendon of biceps brachii	UBERON:0008188	90.03	gold quality
pancreas	UBERON:0001264	89.97	gold quality
left adrenal gland cortex	UBERON:0035825	89.95	gold quality
upper lobe of left lung	UBERON:0008952	89.93	gold quality
omental fat pad	UBERON:0010414	89.86	gold quality
right adrenal gland cortex	UBERON:0035827	89.86	gold quality
peritoneum	UBERON:0002358	89.85	gold quality
right atrium auricular region	UBERON:0006631	89.83	gold quality
adipose tissue of abdominal region	UBERON:0007808	89.74	gold quality
left coronary artery	UBERON:0001626	89.73	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-CURD-112	yes	8.11
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

9 targeting EMG1, 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-3913-3P	99.74	66.53	938
HSA-MIR-148A-3P	99.74	73.77	1700
HSA-MIR-148B-3P	99.74	73.75	1700
HSA-MIR-152-3P	99.74	73.75	1703
HSA-MIR-4530	99.69	66.47	1509
HSA-MIR-4764-5P	98.88	65.53	894
HSA-MIR-4709-5P	98.51	67.25	1335
HSA-MIR-4773	98.35	67.30	1710
HSA-MIR-3914	94.91	65.77	643

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 51.4% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 3)

• Mutation of a gene essential for ribosome biogenesis, EMG1, causes Bowen-Conradi syndrome. (PMID:19463982)
• Our findings further indicate that in Bowen-Conradi syndrome, nuclear disassembly of the import complex and release of EMG1D86G lead to its nuclear aggregation and degradation, resulting in the reduced nucleolar recruitment of the RNA methyltransferase and defects in the biogenesis of the small ribosomal subunit. (PMID:27798105)
• The role of EMG1 in lung adenocarcinoma progression: Implications for prognosis and immune cell infiltration. (PMID:38943975)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	emg1	ENSDARG00000056914
mus_musculus	Emg1	ENSMUSG00000004268
rattus_norvegicus	Emg1	ENSRNOG00000012828
drosophila_melanogaster	CG3527	FBGN0029714
caenorhabditis_elegans		WBGENE00012652

Protein

Protein identifiers

Ribosomal RNA small subunit methyltransferase NEP1 — Q92979 (reviewed: Q92979)

Alternative names: 18S rRNA (pseudouridine(1248)-N1)-methyltransferase, 18S rRNA Psi1248 methyltransferase, Nucleolar protein EMG1 homolog, Protein C2f, Ribosome biogenesis protein NEP1

All UniProt accessions (2): Q92979, A0A087WVM7

UniProt curated annotations — full annotation on UniProt →

Function. S-adenosyl-L-methionine-dependent pseudouridine N(1)-methyltransferase that methylates pseudouridine at position 1248 (Psi1248) in 18S rRNA. Involved the biosynthesis of the hypermodified N1-methyl-N3-(3-amino-3-carboxypropyl) pseudouridine (m1acp3-Psi) conserved in eukaryotic 18S rRNA. Is not able to methylate uridine at this position. Also has an essential role in 40S ribosomal subunit biogenesis independent on its methyltransferase activity, facilitating the incorporation of ribosomal protein S19 during the formation of pre-ribosomes. Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associate with the nascent pre-rRNA and work in concert to generate RNA folding, modifications, rearrangements and cleavage as well as targeted degradation of pre-ribosomal RNA by the RNA exosome.

Subunit / interactions. Homodimer. Part of the small subunit (SSU) processome, composed of more than 70 proteins and the RNA chaperone small nucleolar RNA (snoRNA) U3.

Subcellular location. Nucleus. Nucleolus.

Disease relevance. Bowen-Conradi syndrome (BWCNS) [MIM:211180] A combination of malformations characterized in newborns by low birth weight, microcephaly, mild joint restriction, a prominent nose, micrognathia, fifth finger clinodactyly, and ‘rocker-bottom’ feet. The syndrome is transmitted as an autosomal recessive trait. The prognosis is poor, with all infants dying within the first few months of life. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the class IV-like SAM-binding methyltransferase superfamily. RNA methyltransferase NEP1 family.

RefSeq proteins (2): NP_001306978, NP_006322* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR005304	Rbsml_bgen_MeTrfase_EMG1/NEP1	Family
IPR029026	tRNA_m1G_MTases_N	Homologous_superfamily
IPR029028	Alpha/beta_knot_MTases	Homologous_superfamily

Pfam: PF03587

Enzyme classification (BRENDA):

• EC 2.1.1.257 — tRNA (pseudouridine54-N1)-methyltransferase (BRENDA: 4 organisms, 13 substrates, 1 inhibitors, 0 Km, 0 kcat entries)

Catalyzed reactions (Rhea), 1 shown:

• pseudouridine(1248) in human 18S rRNA + S-adenosyl-L-methionine = N(1)-methylpseudouridine(1248) in human 18S rRNA + S-adenosyl-L-homocysteine + H(+) (RHEA:46712)

UniProt features (38 total): strand 12, helix 8, site 5, binding site 4, modified residue 3, sequence variant 2, initiator methionine 1, chain 1, region of interest 1, turn 1

Structure

Experimental structures (PDB)

4 structures.

PDB	Method	Resolution (Å)
5FAI	X-RAY DIFFRACTION	1.8
7MQA	ELECTRON MICROSCOPY	2.7
7MQ8	ELECTRON MICROSCOPY	3.6
7MQ9	ELECTRON MICROSCOPY	3.87

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q92979-F1	89.38	0.82

Functional residue map

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

Catalytic / active sites (5): 128 (interaction with substrate rrna); 132 (interaction with substrate rrna); 84 (interaction with substrate rrna); 86 (stabilizes arg-84); 125 (interaction with substrate rrna)

Ligand- & substrate-binding residues (4): 176; 201; 206; 219–224

Post-translational modifications (3): 2, 5, 14

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-6790901	rRNA modification in the nucleus and cytosol
R-HSA-6791226	Major pathway of rRNA processing in the nucleolus and cytosol
R-HSA-72312	rRNA processing
R-HSA-8868773	rRNA processing in the nucleus and cytosol
R-HSA-8953854	Metabolism of RNA

MSigDB gene sets: 253 (showing top): GOBP_RIBOSOME_BIOGENESIS, BORCZUK_MALIGNANT_MESOTHELIOMA_UP, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, CCAWYNNGAAR_UNKNOWN, BASSO_B_LYMPHOCYTE_NETWORK, GOBP_MATURATION_OF_SSU_RRNA, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_RNA_METHYLATION, COUP_01, GOBP_IN_UTERO_EMBRYONIC_DEVELOPMENT, GOBP_RNA_MODIFICATION, RUTELLA_RESPONSE_TO_CSF2RB_AND_IL4_UP, KORKOLA_EMBRYONAL_CARCINOMA_UP, GOBP_RIBOSOMAL_SMALL_SUBUNIT_BIOGENESIS, GOBP_NUCLEUS_ORGANIZATION

GO Biological Process (7): blastocyst development (GO:0001824), rRNA processing (GO:0006364), nucleologenesis (GO:0017126), ribosomal small subunit biogenesis (GO:0042274), rRNA base methylation (GO:0070475), methylation (GO:0032259), ribosome biogenesis (GO:0042254)

GO Molecular Function (7): RNA binding (GO:0003723), rRNA binding (GO:0019843), identical protein binding (GO:0042802), rRNA (pseudouridine) methyltransferase activity (GO:0070037), protein binding (GO:0005515), methyltransferase activity (GO:0008168), transferase activity (GO:0016740)

GO Cellular Component (6): nucleus (GO:0005634), nucleoplasm (GO:0005654), chromosome (GO:0005694), nucleolus (GO:0005730), cytoplasm (GO:0005737), small-subunit processome (GO:0032040)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
rRNA processing in the nucleus and cytosol	2
Metabolism of RNA	1
rRNA processing	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
ribosome biogenesis	2
ribonucleoprotein complex biogenesis	2
nuclear lumen	2
cellular anatomical structure	2
intracellular membraneless organelle	2
in utero embryonic development	1
anatomical structure development	1
RNA processing	1
rRNA metabolic process	1
nucleolus organization	1
cellular component biogenesis	1
rRNA methylation	1
metabolic process	1
nucleic acid binding	1
RNA binding	1
protein binding	1
rRNA methyltransferase activity	1
binding	1
transferase activity, transferring one-carbon groups	1
catalytic activity	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
nucleolus	1
preribosome	1
t-UTP complex	1
nuclear protein-containing complex	1

Protein interactions and networks

STRING

3224 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
EMG1	NOP14	P78316	986
EMG1	MAT2A	P31153	840
EMG1	RTN4R	Q9BZR6	812
EMG1	BYSL	Q13895	806
EMG1	NAT10	Q9H0A0	786
EMG1	DDX49	Q9Y6V7	776
EMG1	RRP8	O43159	740
EMG1	BUD23	O43709	731
EMG1	TSR3	Q9UJK0	718
EMG1	RTN4	Q9NQC3	718
EMG1	UTP4	Q969X6	691
EMG1	RSL1D1	O76021	682
EMG1	ESF1	Q9H501	677
EMG1	DHX8	Q14562	670
EMG1	ABT1	Q9ULW3	641

IntAct

71 interactions, top by confidence:

A	B	Type	Score
FAM74A4	EMG1	psi-mi:“MI:0915”(physical association)	0.560
EMG1	FAM74A4	psi-mi:“MI:0915”(physical association)	0.560
EMG1	EMG1	psi-mi:“MI:0915”(physical association)	0.560
EMG1	HSD3B7	psi-mi:“MI:0915”(physical association)	0.560
EMG1	ZNF768	psi-mi:“MI:0915”(physical association)	0.560
CYP1A1	SNX3	psi-mi:“MI:0914”(association)	0.530
H3C1	SMCHD1	psi-mi:“MI:2364”(proximity)	0.410
TIMM21	EMG1	psi-mi:“MI:0915”(physical association)	0.400
CEP55	EMG1	psi-mi:“MI:0915”(physical association)	0.370
CFTR	EMG1	psi-mi:“MI:0915”(physical association)	0.370
Rpl35	RPS6	psi-mi:“MI:0914”(association)	0.350
Eif3a	RPSA	psi-mi:“MI:0914”(association)	0.350
RPL10	RPS6	psi-mi:“MI:0914”(association)	0.350
Rrbp1	PIPSL	psi-mi:“MI:0914”(association)	0.350
EMC2	TBL2	psi-mi:“MI:0914”(association)	0.350
NPM1	RPSA	psi-mi:“MI:0914”(association)	0.350
JUN		psi-mi:“MI:0914”(association)	0.350
JUN	TPM3	psi-mi:“MI:0914”(association)	0.350
CEP290	SUPT5H	psi-mi:“MI:0914”(association)	0.350
Prdm16	ESYT2	psi-mi:“MI:0914”(association)	0.350
Mecom	ESYT2	psi-mi:“MI:0914”(association)	0.350
ESR1	ESYT2	psi-mi:“MI:0914”(association)	0.350
ARHGAP26	NUDT21	psi-mi:“MI:0914”(association)	0.350
EMG1	IPO5	psi-mi:“MI:0914”(association)	0.350
IPO4	RPS3A	psi-mi:“MI:0914”(association)	0.350
IPO5	C11orf98	psi-mi:“MI:0914”(association)	0.350

BioGRID (137): FAM74A4 (Two-hybrid), EMG1 (Affinity Capture-MS), EMG1 (Affinity Capture-MS), EMG1 (Affinity Capture-MS), EMG1 (Proximity Label-MS), EMG1 (Affinity Capture-MS), EMG1 (Affinity Capture-MS), EMG1 (Affinity Capture-MS), EMG1 (Affinity Capture-MS), EMG1 (Affinity Capture-MS), EMG1 (Affinity Capture-MS), EMG1 (Affinity Capture-MS), EMG1 (Affinity Capture-MS), EMG1 (Affinity Capture-MS), EMG1 (Affinity Capture-MS)

ESM2 similar proteins: A6QNM8, B7Q5K1, O01757, O35130, O88796, O95822, P31252, P37215, P37822, P78346, Q06287, Q0J7N5, Q10950, Q1LXS2, Q1WM15, Q28DX0, Q2KNB7, Q2KNB9, Q2NL24, Q3SZ21, Q3UHX9, Q42525, Q43839, Q4V8H8, Q5T280, Q5W676, Q5XGC5, Q5XJ56, Q5ZM96, Q6DE00, Q6DF96, Q6Z398, Q7SYV1, Q7ZVJ6, Q8BH64, Q8WYJ6, Q92979, Q969U7, Q96UP2, Q9FY99

Diamond homologs: A0B5L3, A1RVH0, A3DNG9, A3MWJ1, A4WMI3, B1YD95, B6YTM6, C6A116, O29524, O35130, O50087, Q06287, Q10107, Q57977, Q5JI44, Q8U1E6, Q8ZW45, Q92979, Q96UP2, Q96YP4, Q979E4, Q97WJ0, Q9HJ48, Q9V0M0, Q9W4J5, Q9YES9, Q9P8P7, Q9XX15

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 68 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
Signaling by ALK fusions and activated point mutants	5	17.5×	4e-03
Formation of a pool of free 40S subunits	5	13.0×	4e-03
L13a-mediated translational silencing of Ceruloplasmin expression	5	11.8×	4e-03
GTP hydrolysis and joining of the 60S ribosomal subunit	5	11.7×	4e-03
Regulation of expression of SLITs and ROBOs	5	8.1×	9e-03

GO biological processes:

GO term	Partners	Fold	FDR
cytoplasmic translation	5	15.4×	9e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	42
Likely benign	15
Benign	8

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
890	NM_006331.8(EMG1):c.257A>G (p.Asp86Gly)	Pathogenic

SpliceAI

1949 predictions. Top by Δscore:

Variant	Effect	Δscore
12:6974329:T:A	acceptor_gain	1.0000
12:6974334:TTCA:T	acceptor_loss	1.0000
12:6974337:A:AG	acceptor_gain	1.0000
12:6974338:G:GT	acceptor_gain	1.0000
12:6974338:GGT:G	acceptor_gain	1.0000
12:6974338:GGTA:G	acceptor_gain	1.0000
12:6974436:ACCAG:A	donor_loss	1.0000
12:6974438:CAG:C	donor_loss	1.0000
12:6974439:AG:A	donor_loss	1.0000
12:6974439:AGG:A	donor_loss	1.0000
12:6974440:GG:G	donor_loss	1.0000
12:6974441:GT:G	donor_loss	1.0000
12:6974442:T:A	donor_loss	1.0000
12:6974442:T:G	donor_loss	1.0000
12:6974551:GA:G	acceptor_gain	1.0000
12:6975088:A:AG	acceptor_gain	1.0000
12:6975089:G:GG	acceptor_gain	1.0000
12:6975789:G:GT	donor_gain	1.0000
12:6976889:CAC:C	acceptor_gain	1.0000
12:6976892:C:CA	acceptor_loss	1.0000
12:6976892:C:CC	acceptor_gain	1.0000
12:6977128:ACTT:A	donor_loss	1.0000
12:6977129:CTTA:C	donor_loss	1.0000
12:6977130:TTACC:T	donor_loss	1.0000
12:6977131:TAC:T	donor_loss	1.0000
12:6977132:A:AC	donor_gain	1.0000
12:6977132:A:C	donor_loss	1.0000
12:6977133:C:CC	donor_gain	1.0000
12:6977258:TACAC:T	acceptor_gain	1.0000
12:6977259:ACACC:A	acceptor_loss	1.0000

AlphaMissense

1587 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:6974435:C:G	H89D	0.999
12:6974570:G:C	D97H	0.999
12:6974573:A:C	S98R	0.999
12:6974575:T:A	S98R	0.999
12:6974575:T:G	S98R	0.999
12:6974664:G:C	R128T	0.999
12:6974678:T:C	F133L	0.999
12:6974680:T:A	F133L	0.999
12:6974680:T:G	F133L	0.999
12:6974688:T:C	L136P	0.999
12:6975096:T:C	L140P	0.999
12:6975114:T:A	V146D	0.999
12:6975764:T:G	C230W	0.999
12:6974552:A:C	S91R	0.998
12:6974554:T:A	S91R	0.998
12:6974554:T:G	S91R	0.998
12:6974559:T:C	L93P	0.998
12:6974571:A:T	D97V	0.998
12:6974586:G:C	R102P	0.998
12:6974598:T:C	L106P	0.998
12:6974634:T:A	I118N	0.998
12:6974664:G:T	R128I	0.998
12:6974665:A:C	R128S	0.998
12:6974665:A:T	R128S	0.998
12:6974676:G:C	R132P	0.998
12:6975732:A:C	S220R	0.998
12:6975734:T:A	S220R	0.998
12:6975734:T:G	S220R	0.998
12:6975762:T:C	C230R	0.998
12:6975763:G:A	C230Y	0.998

dbSNP variants (sampled 300 via entrez): RS1000141659 (12:6975547 A>C), RS1000224637 (12:6982231 G>A,C,T), RS1000241626 (12:6989889 T>A), RS1000388112 (12:6996876 G>A), RS1000501528 (12:6988333 A>C,G), RS1000694222 (12:6994609 G>A), RS1000979477 (12:6988605 C>T), RS1001818135 (12:6969935 C>G), RS1001911356 (12:6982936 T>A,C), RS1002005198 (12:6988742 A>G), RS1002517353 (12:6984657 G>A), RS1002601281 (12:6977449 A>G), RS1002606590 (12:6995017 A>G), RS1002709849 (12:6996020 G>C), RS1002742793 (12:6992021 G>A)

Disease associations

OMIM: gene MIM:611531 | disease phenotypes: MIM:211180

GenCC curated gene-disease

Disease	Classification	Inheritance
Bowen-Conradi syndrome	Strong	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
Bowen-Conradi syndrome	Strong	AR

Mondo (1): Bowen-Conradi syndrome (MONDO:0008879)

Orphanet (1): Bowen-Conradi syndrome (Orphanet:1270)

HPO phenotypes

23 total (23 of 23 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000028	Cryptorchidism
HP:0000202	Orofacial cleft
HP:0000252	Microcephaly
HP:0000340	Sloping forehead
HP:0000347	Micrognathia
HP:0000448	Prominent nose
HP:0001250	Seizure
HP:0001367	Abnormal joint morphology
HP:0001387	Joint stiffness
HP:0001518	Small for gestational age
HP:0001522	Death in infancy
HP:0001838	Rocker bottom foot
HP:0002101	Abnormal lung lobation
HP:0002119	Ventriculomegaly
HP:0004209	Clinodactyly of the 5th finger
HP:0004322	Short stature
HP:0008846	Severe intrauterine growth retardation
HP:0008850	Severe postnatal growth retardation
HP:0008872	Feeding difficulties in infancy
HP:0011344	Severe global developmental delay
HP:0030680	Abnormal cardiovascular system morphology
HP:0100490	Camptodactyly of finger

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C537081	Bowen-Conradi syndrome (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6066541 (PROTEIN COMPLEX)

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

ChEMBL bioactivities

4 potent at pChembl≥5 of 4 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
8.45	Ki	3.55	nM	CHEMBL5750617
7.45	Ki	35.5	nM	CHEMBL5912094

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases expression	2
Valproic Acid	decreases expression, affects expression	2
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	2
Cyclosporine	increases expression	2
Aflatoxin B1	affects cotreatment, decreases expression, increases expression, increases methylation	2
aristolochic acid I	decreases expression	1
GSK-J4	decreases expression	1
2,4,6-tribromophenol	decreases expression	1
deoxynivalenol	increases expression	1
decabromobiphenyl ether	decreases expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
arsenite	affects binding, increases reaction	1
sodium arsenite	increases abundance, increases expression	1
cobaltous chloride	decreases expression	1
tetrabromobisphenol A	decreases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
diethyl malate	increases expression	1
cylindrospermopsin	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	decreases expression, affects cotreatment	1
abrine	increases 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
2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine	decreases expression, increases response to substance	1
bisphenol S	increases expression, affects cotreatment	1
jinfukang	increases expression	1
LDN 193189	affects cotreatment, decreases expression	1
(+)-JQ1 compound	decreases expression	1
Resveratrol	affects cotreatment, increases expression	1

ChEMBL screening assays

2 unique, capped per target: 2 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5735997	Binding	Enzyme Inhibition Assay: The assays were performed in 384-well white opaque plates at 37° C. using the fluorogenic peptide substrates at a concentration of 10 μM in Assay Buffer (NEP: 50 mM HEPES, pH 7.5, 100 mM NaCl, 0.01% polyethylene gly	Neprilysin inhibitors

Clinical trials (associated diseases)

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