RBMX2

Summary

RBMX2 (RNA binding motif protein X-linked 2, HGNC:24282) is a protein-coding gene on chromosome Xq26.1, encoding RNA-binding motif protein, X-linked 2 (Q9Y388). Involved in pre-mRNA splicing as component of the activated spliceosome. It is a selective cancer dependency (DepMap: 87.3% of cell lines).

Enables RNA binding activity. Involved in mRNA splicing, via spliceosome. Located in endoplasmic reticulum; nuclear membrane; and nucleolus. Part of U2-type precatalytic spliceosome.

Source: NCBI Gene 51634 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 73 total — 1 pathogenic
• Cancer dependency (DepMap): dependent in 87.3% of screened cell lines
• MANE Select transcript: NM_016024

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24282
Approved symbol	RBMX2
Name	RNA binding motif protein X-linked 2
Location	Xq26.1
Locus type	gene with protein product
Status	Approved
Aliases	CGI-79, Snu17
Ensembl gene	ENSG00000134597
Ensembl biotype	protein_coding
Entrez	51634

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 3 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000305536, ENST00000370947, ENST00000469953, ENST00000487274, ENST00000919759

RefSeq mRNA: 1 — MANE Select: NM_016024 NM_016024

CCDS: CCDS43993

Canonical transcript exons

ENST00000305536 — 6 exons

Exon	Start	End
ENSE00001167954	130402255	130402370
ENSE00001253831	130411348	130411525
ENSE00001303525	130412361	130413656
ENSE00001453982	130401987	130402037
ENSE00003593615	130403802	130403853
ENSE00003618046	130409257	130409386

Expression profiles

Bgee: expression breadth ubiquitous, 270 present calls, max score 96.51.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 1304.1036 / max 216825.2414, expressed in 1827 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
194845	1304.1036	1827
197553	27.1967	1810
197552	0.7501	480

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	96.51	gold quality
oocyte	CL:0000023	94.33	gold quality
calcaneal tendon	UBERON:0003701	92.39	gold quality
tendon of biceps brachii	UBERON:0008188	91.85	gold quality
tendon	UBERON:0000043	91.22	gold quality
buccal mucosa cell	CL:0002336	91.21	gold quality
sural nerve	UBERON:0015488	90.82	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	89.48	gold quality
monocyte	CL:0000576	88.66	gold quality
mononuclear cell	CL:0000842	88.51	gold quality
leukocyte	CL:0000738	88.42	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	88.33	gold quality
cortical plate	UBERON:0005343	88.11	gold quality
granulocyte	CL:0000094	87.77	gold quality
endocervix	UBERON:0000458	87.55	gold quality
ganglionic eminence	UBERON:0004023	87.43	gold quality
endometrium epithelium	UBERON:0004811	87.09	gold quality
body of uterus	UBERON:0009853	86.93	gold quality
mucosa of paranasal sinus	UBERON:0005030	86.43	silver quality
left ovary	UBERON:0002119	86.34	gold quality
tibial nerve	UBERON:0001323	86.32	gold quality
ectocervix	UBERON:0012249	86.27	gold quality
muscle layer of sigmoid colon	UBERON:0035805	86.25	gold quality
amygdala	UBERON:0001876	86.23	gold quality
cerebellar hemisphere	UBERON:0002245	86.16	gold quality
cerebellar cortex	UBERON:0002129	86.12	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	85.78	gold quality
right hemisphere of cerebellum	UBERON:0014890	85.67	gold quality
ovary	UBERON:0000992	85.62	gold quality
skin of leg	UBERON:0001511	85.62	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.23
E-GEOD-75367	no	51.84

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

27 targeting RBMX2, 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-1193	100.00	65.93	529
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-7845-5P	99.88	64.88	771
HSA-MIR-544A	99.84	68.66	1965
HSA-MIR-204-5P	99.79	71.62	2439
HSA-MIR-211-5P	99.79	71.65	2440
HSA-MIR-3617-5P	99.75	69.41	1968
HSA-MIR-641	99.75	69.35	1975
HSA-MIR-10393-5P	99.65	68.01	1368
HSA-MIR-561-3P	99.64	70.90	3647
HSA-MIR-217-5P	99.49	69.93	1419
HSA-MIR-3064-5P	99.26	66.13	1497
HSA-MIR-3085-3P	99.26	66.16	1490
HSA-MIR-6504-5P	99.26	65.95	1487
HSA-MIR-6807-3P	99.15	69.23	1275
HSA-MIR-628-3P	99.04	68.37	814
HSA-MIR-3136-5P	98.53	67.68	793
HSA-MIR-4439	98.53	67.53	793
HSA-MIR-676-5P	98.49	68.87	1492
HSA-MIR-6776-3P	98.38	66.34	655
HSA-MIR-211-3P	98.14	66.77	1052
HSA-MIR-943	97.81	64.42	694
HSA-MIR-335-5P	97.10	68.12	1022
HSA-MIR-514A-5P	96.94	65.49	801
HSA-MIR-5586-5P	96.29	68.02	685
HSA-MIR-4522	95.76	66.23	742

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 87.3% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 1)

• Alu element in the RNA binding motif protein, X-linked 2 (RBMX2) gene found to be linked to bipolar disorder. (PMID:34914762)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	rbmx2	ENSDARG00000044380
mus_musculus	Rbmx2	ENSMUSG00000031107
rattus_norvegicus	Rbmx2	ENSRNOG00000007371
drosophila_melanogaster	CG10466	FBGN0032822
caenorhabditis_elegans		WBGENE00016245

Paralogs (5): U2AF2 (ENSG00000063244), CSTF2 (ENSG00000101811), ZCRB1 (ENSG00000139168), UHMK1 (ENSG00000152332), CSTF2T (ENSG00000177613)

Protein

Protein identifiers

RNA-binding motif protein, X-linked 2 — Q9Y388 (reviewed: Q9Y388)

All UniProt accessions (2): Q9Y388, Q5JY83

UniProt curated annotations — full annotation on UniProt →

Function. Involved in pre-mRNA splicing as component of the activated spliceosome. As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs.

Subunit / interactions. Part of the activated spliceosome B/catalytic step 1 spliceosome, one of the forms of the spliceosome which has a well-formed active site but still cannot catalyze the branching reaction and is composed of at least 52 proteins, the U2, U5 and U6 snRNAs and the pre-mRNA. Component of the minor spliceosome, which splices U12-type introns.

Subcellular location. Nucleus.

Similarity. Belongs to the IST3 family.

RefSeq proteins (1): NP_057108* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000504	RRM_dom	Domain
IPR012677	Nucleotide-bd_a/b_plait_sf	Homologous_superfamily
IPR035979	RBD_domain_sf	Homologous_superfamily
IPR045844	RRM_Ist3-like	Domain
IPR051847	RNA_proc/Spliceosome_comp	Family

Pfam: PF00076

UniProt features (31 total): modified residue 7, helix 7, strand 6, compositionally biased region 4, cross-link 2, chain 1, domain 1, sequence variant 1, sequence conflict 1, region of interest 1

Structure

Experimental structures (PDB)

10 structures.

PDB	Method	Resolution (Å)
7DVQ	ELECTRON MICROSCOPY	2.89
8I0R	ELECTRON MICROSCOPY	3
6FF4	ELECTRON MICROSCOPY	3.4
8I0P	ELECTRON MICROSCOPY	3.4
6FF7	ELECTRON MICROSCOPY	4.5
7ABH	ELECTRON MICROSCOPY	4.5
5Z58	ELECTRON MICROSCOPY	4.9
5Z56	ELECTRON MICROSCOPY	5.1
5Z57	ELECTRON MICROSCOPY	6.5
7ABI	ELECTRON MICROSCOPY	8

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y388-F1	63.35	0.32

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 (9): 188, 232, 272, 314, 8, 243, 140, 149, 186

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-72163	mRNA Splicing - Major Pathway

MSigDB gene sets: 81 (showing top): AREB6_01, BLALOCK_ALZHEIMERS_DISEASE_UP, REACTOME_PROCESSING_OF_CAPPED_INTRON_CONTAINING_PRE_MRNA, GOBP_PROTEIN_RNA_COMPLEX_ORGANIZATION, GOBP_RNA_SPLICING, REACTOME_MRNA_SPLICING, DODD_NASOPHARYNGEAL_CARCINOMA_UP, GOBP_RIBONUCLEOPROTEIN_COMPLEX_BIOGENESIS, REACTOME_METABOLISM_OF_RNA, GOCC_NUCLEAR_ENVELOPE, GOCC_U2_TYPE_SPLICEOSOMAL_COMPLEX, GOCC_PRECATALYTIC_SPLICEOSOME, GOCC_U2_SNRNP, MARSON_BOUND_BY_E2F4_UNSTIMULATED, GOCC_CATALYTIC_STEP_2_SPLICEOSOME

GO Biological Process (4): mRNA splicing, via spliceosome (GO:0000398), U2-type prespliceosome assembly (GO:1903241), mRNA processing (GO:0006397), RNA splicing (GO:0008380)

GO Molecular Function (3): RNA binding (GO:0003723), nucleic acid binding (GO:0003676), protein binding (GO:0005515)

GO Cellular Component (9): nucleus (GO:0005634), nucleoplasm (GO:0005654), spliceosomal complex (GO:0005681), U2 snRNP (GO:0005686), nucleolus (GO:0005730), endoplasmic reticulum (GO:0005783), nuclear membrane (GO:0031965), U2-type precatalytic spliceosome (GO:0071005), precatalytic spliceosome (GO:0071011)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
mRNA Splicing	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
RNA processing	2
binding	2
intracellular membrane-bounded organelle	2
nuclear lumen	2
RNA splicing, via transesterification reactions with bulged adenosine as nucleophile	1
mRNA processing	1
spliceosomal complex assembly	1
mRNA metabolic process	1
nucleic acid binding	1
cellular anatomical structure	1
nuclear protein-containing complex	1
ribonucleoprotein complex	1
spliceosomal snRNP complex	1
intracellular membraneless organelle	1
cytoplasm	1
endomembrane system	1
nucleus	1
nuclear envelope	1
organelle membrane	1
U2-type spliceosomal complex	1
U1 snRNP	1
U2 snRNP	1
U4/U6 x U5 tri-snRNP complex	1
precatalytic spliceosome	1
spliceosomal complex	1

Protein interactions and networks

STRING

1631 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RBMX2	BUD13	Q9BRD0	993
RBMX2	SNIP1	Q8TAD8	984
RBMX2	SF3B1	O75533	690
RBMX2	SF3A2	Q15428	625
RBMX2	SF3B5	Q9BWJ5	617
RBMX2	PHF5A	Q7RTV0	616
RBMX2	SNW1	Q13573	615
RBMX2	CWC22	Q9HCG8	597
RBMX2	SF3B2	Q13435	581
RBMX2	SNRPA1	P09661	570
RBMX2	RNF113A	O15541	534
RBMX2	HNRNPC	P07910	525
RBMX2	SF3B3	Q15393	514
RBMX2	SF3A3	Q12874	498
RBMX2	DHX38	Q92620	488

IntAct

110 interactions, top by confidence:

A	B	Type	Score
EAF1	ELL2	psi-mi:“MI:0914”(association)	0.840
GPKOW	DHX16	psi-mi:“MI:0914”(association)	0.820
RBMX2	BUD13	psi-mi:“MI:0915”(physical association)	0.770
BUD13	RBMX2	psi-mi:“MI:0915”(physical association)	0.770
COMMD4	VPS26C	psi-mi:“MI:0914”(association)	0.730
COMMD6	VPS26C	psi-mi:“MI:0914”(association)	0.640
DHX38	DHX16	psi-mi:“MI:0914”(association)	0.630
SRRM4	RBMX2	psi-mi:“MI:0915”(physical association)	0.560
FAM133A	RBMX2	psi-mi:“MI:0915”(physical association)	0.560
MMTAG2	RBMX2	psi-mi:“MI:0915”(physical association)	0.560
ZNF512	ZNF724	psi-mi:“MI:0914”(association)	0.530
RSBN1	SETD1A	psi-mi:“MI:0914”(association)	0.530
KNOP1	DHX15	psi-mi:“MI:0914”(association)	0.530
N	RBM47	psi-mi:“MI:0914”(association)	0.530
MAGEB2	POLRMT	psi-mi:“MI:0914”(association)	0.530
RBM34	NVL	psi-mi:“MI:0914”(association)	0.530
RRP8	MAGEB2	psi-mi:“MI:0914”(association)	0.530
JPH4	ZSWIM8	psi-mi:“MI:0914”(association)	0.530
RBMX2	WDR46	psi-mi:“MI:0914”(association)	0.530
RPL13	RRP8	psi-mi:“MI:0914”(association)	0.530
RBMX2	NKAP	psi-mi:“MI:0915”(physical association)	0.510
GNL3	IPO5	psi-mi:“MI:0914”(association)	0.480
RBMX2	PRPF40A	psi-mi:“MI:0915”(physical association)	0.370
RBMX2	DHX8	psi-mi:“MI:0915”(physical association)	0.370
NR2C2	PRPF40A	psi-mi:“MI:0914”(association)	0.350
ESR1	ESYT2	psi-mi:“MI:0914”(association)	0.350
JPH4	ZSWIM8	psi-mi:“MI:0914”(association)	0.350

BioGRID (134): RBMX2 (Affinity Capture-MS), RBMX2 (Affinity Capture-MS), RBMX2 (Affinity Capture-MS), RBMX2 (Affinity Capture-MS), RBMX2 (Affinity Capture-MS), RBMX2 (Affinity Capture-MS), RBMX2 (Affinity Capture-MS), RBMX2 (Affinity Capture-MS), RBMX2 (Affinity Capture-MS), RBMX2 (Affinity Capture-MS), RBMX2 (Affinity Capture-MS), RBMX2 (Affinity Capture-MS), RBMX2 (Affinity Capture-MS), RBMX2 (Affinity Capture-MS), RBMX2 (Affinity Capture-MS)

ESM2 similar proteins: A0A1S3XQD6, A0A1S4AX27, A1A5I1, A2AR02, A6QLS2, B0BN49, G2TRQ9, O14256, O55035, P30189, P30414, P41512, Q04750, Q07050, Q13427, Q27450, Q28EE8, Q3KPW4, Q4V9W2, Q505I5, Q59LQ5, Q5BKY9, Q5R8J6, Q5RJP9, Q5VTL8, Q5XHJ5, Q5ZLM8, Q6AXY7, Q6BNE1, Q6NQD9, Q6NWI1, Q6ZUT1, Q751P0, Q7L4I2, Q7YR26, Q80SY5, Q8GWY0, Q8N9E0, Q8N9Q2, Q8R0F5

Diamond homologs: A5A6M3, B0BN49, D4AE41, O13829, O23212, O43040, O75526, O93235, O94290, P0C8Z4, P10979, P19682, P19683, P25299, P33240, P38159, P40565, P48809, P49310, P49311, P60824, P60825, P60826, P84586, Q00916, Q03250, Q03251, Q03878, Q04836, Q05966, Q10B98, Q12926, Q13595, Q14011, Q14498, Q21832, Q27W01, Q28BZ1, Q28GD4, Q28IQ9

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
RBMX2	“form complex”	“U2 snRNP complex”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 121 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
SARS-CoV-1 modulates host translation machinery	5	19.8×	5e-05
mRNA Polyadenylation	15	16.9×	9e-13
mRNA Splicing - Major Pathway	24	16.8×	4e-21
mRNA 3’-end processing	6	15.2×	3e-05
Peptide chain elongation	9	14.6×	2e-07
Viral mRNA Translation	9	14.6×	2e-07
PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA	9	14.5×	2e-07
Response of EIF2AK4 (GCN2) to amino acid deficiency	10	14.2×	6e-08

GO biological processes:

GO term	Partners	Fold	FDR
regulation of alternative mRNA splicing, via spliceosome	9	21.6×	4e-08
cytoplasmic translation	11	20.0×	1e-09
mRNA transport	7	18.1×	9e-06
ribosomal small subunit biogenesis	7	15.6×	2e-05
mRNA splicing, via spliceosome	16	14.4×	1e-11
mRNA processing	16	12.3×	5e-11
RNA splicing	14	12.1×	1e-09
translation	11	11.1×	4e-07

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	31
Likely benign	5
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
1703580	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	Pathogenic

SpliceAI

939 predictions. Top by Δscore:

Variant	Effect	Δscore
X:130402038:G:GG	donor_gain	1.0000
X:130402062:G:GT	donor_gain	1.0000
X:130402063:A:T	donor_gain	1.0000
X:130403796:TTCTA:T	acceptor_loss	1.0000
X:130403797:TCTAG:T	acceptor_loss	1.0000
X:130403798:CTA:C	acceptor_loss	1.0000
X:130403799:TAG:T	acceptor_loss	1.0000
X:130403800:A:AG	acceptor_gain	1.0000
X:130403800:A:G	acceptor_loss	1.0000
X:130403800:AGGAG:A	acceptor_gain	1.0000
X:130403801:G:GG	acceptor_gain	1.0000
X:130403801:GGAGG:G	acceptor_gain	1.0000
X:130403851:ACA:A	donor_gain	1.0000
X:130403851:ACAGT:A	donor_loss	1.0000
X:130403852:CA:C	donor_gain	1.0000
X:130403853:AGTA:A	donor_loss	1.0000
X:130403854:G:C	donor_loss	1.0000
X:130403854:G:GG	donor_gain	1.0000
X:130403855:TAAG:T	donor_loss	1.0000
X:130403856:AA:A	donor_loss	1.0000
X:130409246:A:AG	acceptor_gain	1.0000
X:130409385:AGGTG:A	donor_loss	1.0000
X:130409387:G:T	donor_loss	1.0000
X:130409388:T:G	donor_loss	1.0000
X:130411344:TTA:T	acceptor_loss	1.0000
X:130411346:A:AG	acceptor_gain	1.0000
X:130411346:A:G	acceptor_loss	1.0000
X:130411347:G:GA	acceptor_gain	1.0000
X:130411347:GA:G	acceptor_gain	1.0000
X:130411347:GAT:G	acceptor_gain	1.0000

AlphaMissense

2120 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:130402331:T:A	W28R	1.000
X:130402331:T:C	W28R	1.000
X:130402333:G:C	W28C	1.000
X:130402333:G:T	W28C	1.000
X:130409316:G:A	G78E	1.000
X:130409318:T:C	F79L	1.000
X:130409320:C:A	F79L	1.000
X:130409320:C:G	F79L	1.000
X:130409324:T:C	F81L	1.000
X:130409326:C:A	F81L	1.000
X:130409326:C:G	F81L	1.000
X:130402287:T:C	L13P	0.999
X:130402358:T:A	W37R	0.999
X:130402358:T:C	W37R	0.999
X:130402364:T:C	F39L	0.999
X:130402366:C:A	F39L	0.999
X:130402366:C:G	F39L	0.999
X:130403802:G:A	G41E	0.999
X:130409261:G:T	G60W	0.999
X:130409262:G:A	G60E	0.999
X:130409262:G:T	G60V	0.999
X:130409315:G:A	G78R	0.999
X:130409315:G:C	G78R	0.999
X:130409323:T:G	C80W	0.999
X:130409325:T:C	F81S	0.999
X:130409348:A:C	S89R	0.999
X:130409350:C:A	S89R	0.999
X:130409350:C:G	S89R	0.999
X:130409361:C:A	A93D	0.999
X:130409364:T:A	V94D	0.999

dbSNP variants (sampled 300 via entrez): RS1000110556 (X:130401911 A>G,T), RS1000235346 (X:130402120 G>A,C), RS1000336226 (X:130401590 T>C), RS1000494652 (X:130413490 C>T), RS1000777207 (X:130412899 G>A,C), RS1001003823 (X:130401140 CT>C,CTT), RS1001724508 (X:130400370 G>C), RS1002156431 (X:130405893 C>T), RS1002175454 (X:130403915 T>A), RS1003588997 (X:130406208 C>T), RS1003747831 (X:130409846 A>G), RS1003884506 (X:130410428 C>T), RS1003954423 (X:130401562 T>G), RS1003987012 (X:130401138 C>G), RS1004256240 (X:130410692 G>T)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (1): Turner syndrome (MONDO:0019499)

Orphanet (1): Turner syndrome (Orphanet:881)

HPO phenotypes

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

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D014424	Turner Syndrome	C12.050.351.875.253.309.872; C12.050.351.875.253.795.750; C12.200.706.316.309.872; C12.200.706.316.795.750; C12.800.316.309.872; C12.800.316.795.750; C14.240.400.980; C14.280.400.980; C16.131.240.400.970; C16.131.260.830.835.750; C16.131.939.316.309.872; C16.131.939.316.795.750; C16.320.180.830.835.750; C19.391.119.309.872; C19.391.119.795.750

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

23 total (human), top 23 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression	2
GSK-J4	increases expression	1
FR900359	increases phosphorylation	1
dicrotophos	decreases expression	1
methylparaben	increases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
ICG 001	decreases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	decreases expression	1
Atrazine	increases expression	1
Benzo(a)pyrene	affects methylation, decreases methylation	1
Caffeine	decreases phosphorylation	1
Cisplatin	increases expression	1
Doxorubicin	decreases expression	1
Ethyl Methanesulfonate	increases expression	1
Methotrexate	decreases expression	1
Methyl Methanesulfonate	increases expression	1
Ribonucleotides	affects binding	1
Testosterone	decreases expression	1
Cyclosporine	increases expression	1
Aflatoxin B1	decreases methylation	1
Cadmium Chloride	increases expression	1
Permethrin	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00134745	PHASE4	COMPLETED	Defining the Optimal Hormonal Replacement Therapy in Turner Syndrome
NCT00256126	PHASE4	COMPLETED	Predictive Markers in Growth Hormone Deficiency (GHD) and Turner Syndrome (TS) Children Treated With SAIZEN®
NCT00266656	PHASE4	COMPLETED	Long-Term Growth and Skeletal Effects of Early Growth Hormone Treatment in Turner Syndrome
NCT00837616	PHASE4	COMPLETED	Estrogen Dosing in Turner Syndrome: Pharmacology and Metabolism
NCT01245374	PHASE4	COMPLETED	Norditropin NordiFlex® Device Compared to the Device Previously Used by Patients or Parents
NCT01419249	PHASE4	COMPLETED	First Year Growth Response Associated Genetic Markers Validation Phase IV Open-label Study in Growth Hormone Deficient and Turner Syndrome Pre-pubertal Children: the PREDICT Pharmacogenetics Validation Study
NCT01518062	PHASE4	COMPLETED	Safety of Somatropin and Induction of Puberty With 17-beta-oestradiol in Girls With Turner Syndrome
NCT01734486	PHASE4	COMPLETED	Growth Response in Girls With Turner Syndrome
NCT03015909	PHASE4	COMPLETED	Evaluation of the Ease of Use, Preference, and Safety of EutropinPen Inj.
NCT06544473	PHASE4	RECRUITING	Determining Dose Equivalence Between Oral and Transdermal Estrogen Treatment in Women With Turner Syndrome
NCT06570460	PHASE4	RECRUITING	Long Term Effects of Oral Versus Transdermal Estrogen Replacement Therapy in Turner Syndrome
NCT06834594	PHASE4	RECRUITING	Bleeding Patterns in Sequential and Continuous Progesterone Supplementation in Adolescents With Turner Syndrome
NCT00029159	PHASE3	COMPLETED	The Effect of Androgen and Growth Hormone on Height and Learning in Girls With Turner Syndrome
NCT00140998	PHASE3	COMPLETED	Estrogen Treatment (Oral vs. Patches) in Turner Syndrome
NCT00191113	PHASE3	COMPLETED	Somatropin Treatment to Final Height in Turner Syndrome
NCT00234533	PHASE3	COMPLETED	Study to Define Optimal IGF-1 Monitoring in Children Treated With NutropinAq
NCT00406926	PHASE3	COMPLETED	The Effect of Growth Hormone in Very Young Girls With Turner Syndrome
NCT01518036	PHASE3	COMPLETED	Use of Somatropin in Turner Syndrome
NCT01563926	PHASE3	COMPLETED	Evaluating Acceptance of New Liquid Somatropin Formulation in Children With Growth Hormone Deficiency
NCT01710696	PHASE3	COMPLETED	Induction of Puberty With 17-beta Estradiol in Girls With Turner Syndrome
NCT05723835	PHASE3	ACTIVE_NOT_RECRUITING	A Research Study Looking at How Safe Somapacitan is and How Well it Works in Children Who Need Help to Grow - REAL 9
NCT07221851	PHASE3	RECRUITING	Trial Investigating the Efficacy and Safety of Weekly Lonapegsomatropin Compared to Daily Somatropin in Children and Adolescents With Short Stature or Growth Failure Due to Growth Hormone Sufficient Disorders
NCT07614152	PHASE3	NOT_YET_RECRUITING	The Efficacy and Safety of Inpegsomatropin Injection in Children With Turner Syndrome(TS) and Short Stature
NCT00001221	PHASE2	COMPLETED	Effect of Biosynthetic Growth Hormone and/or Ethinyl Estradiol on Adult Height in Patients With Turner Syndrome
NCT00001253	PHASE2	COMPLETED	The Effects of Estrogen on Cognition in Girls With Turner Syndrome
NCT03189160	PHASE2	UNKNOWN	A Study of PEG-somatropin Injection to Treat Children of Turner Syndrome
NCT05690386	PHASE2	ACTIVE_NOT_RECRUITING	A Trial to Investigate Different Doses of Lonapegsomatropin Compared to Somatropin in Individuals With Turner Syndrome
NCT05838885	PHASE2	COMPLETED	A Trial of YPEG-rhGH in Children With Short Stature
NCT05849389	PHASE2	RECRUITING	Vosoritide for Short Stature in Turner Syndrome
NCT07041814	PHASE2	NOT_YET_RECRUITING	A Study Comparing Different Treatment Approaches for the Initiation of Puberty in Girls With Turner Syndrome Using a TRIFECTA-DARED Approach for Rare Diseases
NCT00097526	Not specified	COMPLETED	Bone Mineral Density (BMD) in Adolescents With Growth Hormone Deficiency (GHD)
NCT00097552	Not specified	COMPLETED	A Study to Evaluate Subjects With Turner Syndrome Treated With Growth Hormone
NCT00121875	Not specified	TERMINATED	Study to Identify Markers of Insulin Resistance During Growth Hormone Treatment for Short Stature
NCT00419107	Not specified	TERMINATED	Beta Cell Function in Women With Turner Syndrome
NCT00420654	Not specified	COMPLETED	Growth Hormone Treatment of Women With Turner Syndrome
NCT00443144	Not specified	COMPLETED	D3-GHR Polymorphism and Turner Syndrome
NCT00471731	Not specified	COMPLETED	Dry Eye in Women With Turner Syndrome and Women With Premature Ovarian Failure
NCT00624949	Not specified	UNKNOWN	Aortic Dimensions in Turner Syndrome
NCT00625001	Not specified	UNKNOWN	Long Term Follow-up of Bone Mineral Density in Hormone Treated Turner Syndrome
NCT00738205	Not specified	COMPLETED	Evaluation of Convenience and Compliance of the Easypod™ Electronic Self-injector