RFX2

Summary

RFX2 (regulatory factor X2, HGNC:9983) is a protein-coding gene on chromosome 19p13.3, encoding DNA-binding protein RFX2 (P48378). Transcription factor that acts as a key regulator of spermatogenesis.

This gene is a member of the regulatory factor X gene family, which encodes transcription factors that contain a highly-conserved winged helix DNA binding domain. The protein encoded by this gene is structurally related to regulatory factors X1, X3, X4, and X5. It is a transcriptional activator that can bind DNA as a monomer or as a heterodimer with other RFX family members. This protein can bind to cis elements in the promoter of the IL-5 receptor alpha gene. Two transcript variants encoding different isoforms have been described for this gene, and both variants utilize alternative polyadenylation sites.

Source: NCBI Gene 5990 — RefSeq curated summary.

At a glance

• Gene–disease (curated): cerebral palsy (Limited, GenCC)
• GWAS associations: 4
• Clinical variants (ClinVar): 46 total
• MANE Select transcript: NM_000635

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:9983
Approved symbol	RFX2
Name	regulatory factor X2
Location	19p13.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ14226
Ensembl gene	ENSG00000087903
Ensembl biotype	protein_coding
OMIM	142765
Entrez	5990

Gene structure

Transcript identifiers

Ensembl transcripts: 35 — 24 protein_coding, 9 protein_coding_CDS_not_defined, 2 retained_intron

ENST00000303657, ENST00000359161, ENST00000585324, ENST00000586302, ENST00000586806, ENST00000586940, ENST00000587181, ENST00000587321, ENST00000587700, ENST00000588021, ENST00000589340, ENST00000589523, ENST00000589641, ENST00000589712, ENST00000589742, ENST00000590778, ENST00000590822, ENST00000592172, ENST00000592281, ENST00000592337, ENST00000592473, ENST00000592546, ENST00000592883, ENST00000593241, ENST00000889048, ENST00000889049, ENST00000889050, ENST00000926861, ENST00000926862, ENST00000969658, ENST00000969659, ENST00000969660, ENST00000969661, ENST00000969662, ENST00000969663

RefSeq mRNA: 2 — MANE Select: NM_000635 NM_000635, NM_134433

CCDS: CCDS12157, CCDS12158

Canonical transcript exons

ENST00000303657 — 18 exons

Exon	Start	End
ENSE00000666130	6004201	6004298
ENSE00000666132	6001815	6002023
ENSE00001158745	6007012	6007166
ENSE00001158759	6007690	6007802
ENSE00001158766	6008106	6008224
ENSE00001158853	5993164	5994950
ENSE00001673732	5997060	5997213
ENSE00001785565	6002721	6002870
ENSE00002893133	6110393	6110500
ENSE00003467371	5995601	5995643
ENSE00003499727	6010136	6010251
ENSE00003529123	6012986	6013105
ENSE00003568552	6047407	6047504
ENSE00003596242	6042044	6042123
ENSE00003648888	6016090	6016271
ENSE00003652437	6039980	6040241
ENSE00003689715	6044193	6044282
ENSE00003790276	6026163	6026237

Expression profiles

Bgee: expression breadth ubiquitous, 255 present calls, max score 97.11.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.7787 / max 273.8086, expressed in 1760 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
178602	7.6502	1562
178603	3.0470	1290
178606	1.1710	662
178586	0.4738	150
178601	0.3006	126
178600	0.0932	39
178605	0.0429	17

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	97.11	gold quality
left testis	UBERON:0004533	96.05	gold quality
right testis	UBERON:0004534	95.77	gold quality
testis	UBERON:0000473	93.65	gold quality
bronchial epithelial cell	CL:0002328	92.58	gold quality
left uterine tube	UBERON:0001303	92.09	gold quality
lower esophagus muscularis layer	UBERON:0035833	92.05	gold quality
lower esophagus	UBERON:0013473	91.98	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	91.91	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	91.10	gold quality
epithelium of bronchus	UBERON:0002031	90.90	gold quality
bronchus	UBERON:0002185	90.36	gold quality
muscle layer of sigmoid colon	UBERON:0035805	89.24	gold quality
body of uterus	UBERON:0009853	88.85	gold quality
sural nerve	UBERON:0015488	87.78	gold quality
lower esophagus mucosa	UBERON:0035834	86.71	gold quality
left ovary	UBERON:0002119	86.54	gold quality
ventricular zone	UBERON:0003053	86.51	gold quality
blood	UBERON:0000178	86.26	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	86.17	gold quality
pituitary gland	UBERON:0000007	86.07	gold quality
superficial temporal artery	UBERON:0001614	85.95	silver quality
skin of abdomen	UBERON:0001416	85.89	gold quality
adenohypophysis	UBERON:0002196	85.89	gold quality
right ovary	UBERON:0002118	85.83	gold quality
right hemisphere of cerebellum	UBERON:0014890	85.59	gold quality
esophagus	UBERON:0001043	85.40	gold quality
adult organism	UBERON:0007023	85.37	gold quality
cerebellar hemisphere	UBERON:0002245	85.04	gold quality
buccal mucosa cell	CL:0002336	84.93	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	9.94

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

7 targets.

Target	Regulation
ALAS2
FGF1	Unknown
GSK3B
H1-6	Activation
IL5RA	Unknown
RFX2
TBXT

JASPAR motifs

Motif	Name	Family
MA0600.1	RFX2	RFX-related factors
MA0600.2	RFX2	RFX-related factors
MA0600.3	RFX2	RFX-related factors

JASPAR matrix evidence (PMIDs): PMID:8754849

Upstream regulators (CollecTRI, top): RFX2

miRNA regulators (miRDB)

56 targeting RFX2, 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-3120-5P	100.00	65.56	965
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-23B-5P	99.98	66.07	587
HSA-MIR-6888-3P	99.97	65.95	1170
HSA-MIR-23A-5P	99.94	65.39	468
HSA-MIR-4648	99.91	67.00	710
HSA-MIR-5582-3P	99.86	72.48	4221
HSA-MIR-4779	99.86	66.50	1583
HSA-MIR-1323	99.83	69.89	2471
HSA-MIR-3913-5P	99.78	67.26	968
HSA-MIR-548O-3P	99.74	69.30	2228
HSA-MIR-7-5P	99.67	70.53	1809
HSA-MIR-6762-3P	99.66	66.94	1188
HSA-MIR-4743-3P	99.62	68.12	2095
HSA-MIR-516B-5P	99.56	66.33	1495
HSA-MIR-4753-5P	99.54	68.51	1356
HSA-MIR-3122	99.50	66.33	821
HSA-MIR-3171	99.49	69.06	776
HSA-MIR-329-5P	99.27	68.11	1597
HSA-MIR-499A-3P	99.18	69.20	1392
HSA-MIR-499B-3P	99.18	69.27	1391
HSA-MIR-3199	99.17	65.19	696
HSA-MIR-8052	99.17	65.01	719
HSA-MIR-6768-3P	99.14	67.38	1319
HSA-MIR-3160-3P	99.07	64.78	955

Literature-anchored findings (GeneRIF, showing 7)

• novel role for the RFX family of transcription factors as modulators of Ras signalling in epithelial cells. (PMID:15024578)
• We show binding of RFX proteins to an evolutionarily conserved X-box in the ALMS1 proximal promoter and present evidence that these proteins are responsible for ALMS1 transcription during growth arrest (PMID:20381594)
• Taken together, this study suggests ciliogenic RFX transcription factors regulate FGF-1B promoter activity and the maintenance of F1BGFP(+) NSPCs and GBM-SCs. (PMID:22415835)
• Rfx2 coordinates multiple, distinct gene expression programs in multi-ciliated epithelial cells, regulating genes that control cell movement, ciliogenesis, and cilia function. (PMID:24424412)
• Androglobin gene expression patterns and FOXJ1-dependent regulation indicate its functional association with ciliogenesis. (PMID:33453283)
• Novel variations in spermatogenic transcription regulators RFX2 and TAF7 increase risk of azoospermia. (PMID:34762273)
• RFX2 promotes tumor cell stemness through epigenetic regulation of PAF1 in spinal ependymoma. (PMID:38057505)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	rfx2	ENSDARG00000013575
mus_musculus	Rfx2	ENSMUSG00000024206
rattus_norvegicus	Rfx2	ENSRNOG00000045846
drosophila_melanogaster	Rfx	FBGN0020379

Paralogs (7): RFX3 (ENSG00000080298), RFX4 (ENSG00000111783), RFX1 (ENSG00000132005), RFX5 (ENSG00000143390), RFX7 (ENSG00000181827), RFX6 (ENSG00000185002), RFX8 (ENSG00000196460)

Protein

Protein identifiers

DNA-binding protein RFX2 — P48378 (reviewed: P48378)

Alternative names: Regulatory factor X 2

All UniProt accessions (11): P48378, K7EIN5, K7EJD4, K7EJE4, K7ELD5, K7ELQ7, K7ENC9, K7EQA0, K7EQU2, K7EQY9, K7ES56

UniProt curated annotations — full annotation on UniProt →

Function. Transcription factor that acts as a key regulator of spermatogenesis. Acts by regulating expression of genes required for the haploid phase during spermiogenesis, such as genes required for cilium assembly and function. Recognizes and binds the X-box, a regulatory motif with DNA sequence 5’-GTNRCC(0-3N)RGYAAC-3’ present on promoters. Probably activates transcription of the testis-specific histone gene H1-6.

Subunit / interactions. Homodimer; probably only forms homodimers in testis. Heterodimer; heterodimerizes with RFX1 and RFX3.

Subcellular location. Nucleus. Cytoplasm.

Similarity. Belongs to the RFX family.

Isoforms (2)

UniProt ID	Names	Canonical?
P48378-1	1	yes
P48378-2	2

RefSeq proteins (2): NP_000626, NP_602309 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003150	DNA-bd_RFX	Domain
IPR007668	RFX1_trans_act	Domain
IPR036388	WH-like_DNA-bd_sf	Homologous_superfamily
IPR036390	WH_DNA-bd_sf	Homologous_superfamily
IPR039779	RFX-like	Family
IPR057321	RFX1-4/6/8-like_BCD	Domain

Pfam: PF02257, PF04589, PF25340

UniProt features (18 total): sequence variant 4, sequence conflict 3, region of interest 3, compositionally biased region 3, modified residue 2, chain 1, DNA-binding region 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P48378-F1	68.73	0.46

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): 28, 416

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 153 (showing top): GOBP_RESPONSE_TO_PEPTIDE, GOBP_VESICLE_ORGANIZATION, LINDGREN_BLADDER_CANCER_CLUSTER_3_DN, GOBP_MALE_GAMETE_GENERATION, GOBP_SECRETORY_GRANULE_ORGANIZATION, GOBP_CELLULAR_COMPONENT_ASSEMBLY_INVOLVED_IN_MORPHOGENESIS, GOBP_CILIUM_ORGANIZATION, GOBP_ACROSOME_ASSEMBLY, GOBP_ORGANELLE_ASSEMBLY, MODULE_123, GOBP_CELLULAR_PROCESS_INVOLVED_IN_REPRODUCTION_IN_MULTICELLULAR_ORGANISM, GOBP_ENDOMEMBRANE_SYSTEM_ORGANIZATION, P300_01, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION, GOBP_CELL_PROJECTION_ORGANIZATION

GO Biological Process (10): acrosome assembly (GO:0001675), regulation of transcription by RNA polymerase II (GO:0006357), spermatid development (GO:0007286), cilium assembly (GO:0060271), cellular response to leukemia inhibitory factor (GO:1990830), regulation of DNA-templated transcription (GO:0006355), spermatogenesis (GO:0007283), cell projection organization (GO:0030030), cell differentiation (GO:0030154), positive regulation of transcription by RNA polymerase II (GO:0045944)

GO Molecular Function (8): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228), DNA binding (GO:0003677), DNA-binding transcription factor activity (GO:0003700), sequence-specific double-stranded DNA binding (GO:1990837), RNA polymerase II transcription regulatory region sequence-specific DNA binding (GO:0000977), protein binding (GO:0005515)

GO Cellular Component (3): chromatin (GO:0000785), nucleus (GO:0005634), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
RNA polymerase II transcription regulatory region sequence-specific DNA binding	3
developmental process involved in reproduction	2
organelle assembly	2
regulation of DNA-templated transcription	2
transcription by RNA polymerase II	2
regulation of transcription by RNA polymerase II	2
transcription cis-regulatory region binding	2
cellular anatomical structure	2
spermatid development	1
cellular component assembly involved in morphogenesis	1
cellular process involved in reproduction in multicellular organism	1
secretory granule organization	1
germ cell development	1
spermatid differentiation	1
axoneme assembly	1
intraciliary transport involved in cilium assembly	1
cilium organization	1
protein localization to cilium	1
trans-Golgi to periciliary membrane compartment transport	1
plasma membrane bounded cell projection assembly	1
ciliary transition zone assembly	1
cellular response to cytokine stimulus	1
response to leukemia inhibitory factor	1
DNA-templated transcription	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
male gamete generation	1
cellular component organization	1
cellular developmental process	1
positive regulation of DNA-templated transcription	1
cis-regulatory region sequence-specific DNA binding	1
chromatin	1
DNA-binding transcription factor activity	1
DNA-binding transcription factor activity, RNA polymerase II-specific	1
DNA-binding transcription activator activity	1
positive regulation of transcription by RNA polymerase II	1
nucleic acid binding	1
transcription regulator activity	1
double-stranded DNA binding	1
sequence-specific DNA binding	1

Protein interactions and networks

STRING

1126 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RFX2	FOXJ1	Q92949	867
RFX2	IFT88	Q13099	813
RFX2	RPL30	P04645	774
RFX2	MCIDAS	D6RGH6	700
RFX2	RFXAP	O00287	677
RFX2	RFXANK	O14593	659
RFX2	GMNC	A6NCL1	644
RFX2	SS18L1	O75177	612
RFX2	DTX2	Q86UW9	581
RFX2	CCNK	O75909	569
RFX2	POU3F4	P49335	558
RFX2	ODAD4	Q96NG3	551
RFX2	RFX6	Q8HWS3	525
RFX2	CIITA	P33076	520
RFX2	FUT5	Q11128	497

IntAct

61 interactions, top by confidence:

A	B	Type	Score
RFX2	FOXJ1	psi-mi:“MI:0915”(physical association)	0.800
RFX3	RFX1	psi-mi:“MI:0914”(association)	0.730
FOXN2	RFX1	psi-mi:“MI:0914”(association)	0.710
RFX2	RFX6	psi-mi:“MI:0915”(physical association)	0.670
RFX2	FOXN4	psi-mi:“MI:0915”(physical association)	0.560
PIAS2	RFX2	psi-mi:“MI:0915”(physical association)	0.560
EYA2	RFX2	psi-mi:“MI:0915”(physical association)	0.560
RFX2	NFKBID	psi-mi:“MI:0915”(physical association)	0.560
FBXL3	RFX1	psi-mi:“MI:0914”(association)	0.530
FOXJ1	PEX14	psi-mi:“MI:0914”(association)	0.530
FOXN3	RFX1	psi-mi:“MI:0914”(association)	0.530
RRP8	MAGEB2	psi-mi:“MI:0914”(association)	0.530
	RFX2	psi-mi:“MI:0915”(physical association)	0.370
CCL1	RFX2	psi-mi:“MI:0915”(physical association)	0.370
CCL3L1	RFX2	psi-mi:“MI:0915”(physical association)	0.370
IFNA10	RFX2	psi-mi:“MI:0915”(physical association)	0.370
IFNA17	RFX2	psi-mi:“MI:0915”(physical association)	0.370
IL25	RFX2	psi-mi:“MI:0915”(physical association)	0.370
IL31	RFX2	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (33): RFX2 (Affinity Capture-MS), RFX6 (Two-hybrid), RFX2 (Two-hybrid), C1orf94 (Two-hybrid), RFX2 (Affinity Capture-MS), RFX2 (Affinity Capture-MS), RFX2 (Affinity Capture-MS), RFX2 (Affinity Capture-MS), RFX2 (Affinity Capture-MS), RFX2 (Affinity Capture-MS), RFX2 (Two-hybrid), RFX2 (Two-hybrid), FOXJ1 (Two-hybrid), FOXN4 (Two-hybrid), NFKBID (Two-hybrid)

ESM2 similar proteins: A0JMF8, A2RSY1, A6QLW9, B1WAV2, B2GV50, O60271, O75069, O77627, P05412, P05627, P0C090, P17325, P22670, P48377, P48378, P48379, P48380, P48381, P56432, Q0V989, Q0V9K5, Q16656, Q32NR3, Q3KR73, Q499B3, Q49GP3, Q4R3I8, Q4R3Z4, Q4V872, Q4VGL6, Q58A65, Q5EAP5, Q5EY87, Q5RDR2, Q5RJA1, Q5TC82, Q62739, Q66IV1, Q6NRE7, Q6NUC6

Diamond homologs: A0A1L8GWK2, A0A1L8H0H2, A0JMF8, A2BGA0, A6QLW9, B1WAV2, B2GV50, D2HNW6, F8VPJ6, P22670, P48377, P48378, P48379, P48380, P48381, P48382, P48743, Q09555, Q0V9K5, Q2KHR2, Q32NR3, Q33E94, Q4R3I8, Q4R3Z4, Q59V88, Q5EAP5, Q5RDR2, Q5RJA1, Q7TNK1, Q8C7R7, Q8HWS3, Q9JL61, D3YU81, P48383, Q6ZV50, Q5AMQ6

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
RFX2	up-regulates	Cilium_assembly

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	38
Likely benign	2
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

5339 predictions. Top by Δscore:

Variant	Effect	Δscore
19:5995598:TA:T	donor_loss	1.0000
19:5995599:A:C	donor_loss	1.0000
19:5995600:C:A	donor_loss	1.0000
19:5995639:TTGAA:T	acceptor_gain	1.0000
19:5995640:TGAA:T	acceptor_gain	1.0000
19:5995644:C:CC	acceptor_gain	1.0000
19:5997054:CCTCA:C	donor_loss	1.0000
19:5997055:CTCA:C	donor_loss	1.0000
19:5997056:TCACC:T	donor_loss	1.0000
19:5997057:CACC:C	donor_loss	1.0000
19:5997058:A:C	donor_loss	1.0000
19:5997059:CCT:C	donor_gain	1.0000
19:6001810:CTAA:C	donor_loss	1.0000
19:6001811:TAA:T	donor_loss	1.0000
19:6001812:AAC:A	donor_loss	1.0000
19:6001813:A:C	donor_loss	1.0000
19:6001814:C:A	donor_loss	1.0000
19:6001885:TCAGG:T	donor_gain	1.0000
19:6002019:TGCTC:T	acceptor_gain	1.0000
19:6002021:CTC:C	acceptor_gain	1.0000
19:6002022:TC:T	acceptor_gain	1.0000
19:6002023:CC:C	acceptor_gain	1.0000
19:6002024:C:CA	acceptor_loss	1.0000
19:6002024:C:CC	acceptor_gain	1.0000
19:6002716:GTCAC:G	donor_loss	1.0000
19:6002717:TCACC:T	donor_loss	1.0000
19:6002718:CACC:C	donor_loss	1.0000
19:6002719:A:C	donor_loss	1.0000
19:6002723:G:A	donor_gain	1.0000
19:6002867:CCAC:C	acceptor_gain	1.0000

AlphaMissense

4753 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:5997118:A:G	L652P	1.000
19:5997133:T:A	E647V	1.000
19:5997134:C:T	E647K	1.000
19:5997136:T:A	D646V	1.000
19:5997136:T:G	D646A	1.000
19:5997137:C:A	D646Y	1.000
19:5997137:C:G	D646H	1.000
19:5997142:A:G	L644P	1.000
19:5997145:A:C	L643R	1.000
19:5997145:A:G	L643P	1.000
19:5997145:A:T	L643Q	1.000
19:5997148:C:G	R642P	1.000
19:5997154:A:C	L640R	1.000
19:5997154:A:G	L640P	1.000
19:5997154:A:T	L640H	1.000
19:5997155:G:A	L640F	1.000
19:5997156:G:C	H639Q	1.000
19:5997156:G:T	H639Q	1.000
19:5997157:T:C	H639R	1.000
19:5997158:G:C	H639D	1.000
19:5997159:G:C	F638L	1.000
19:5997159:G:T	F638L	1.000
19:5997160:A:G	F638S	1.000
19:5997161:A:G	F638L	1.000
19:5997166:C:A	G636V	1.000
19:5997166:C:T	G636D	1.000
19:5997167:C:A	G636C	1.000
19:5997167:C:G	G636R	1.000
19:5997168:G:C	F635L	1.000
19:5997168:G:T	F635L	1.000

dbSNP variants (sampled 300 via entrez): RS1000040811 (19:6047577 T>C), RS1000056740 (19:6085194 T>C), RS1000113679 (19:6078498 C>T), RS1000125464 (19:5998176 C>T), RS1000136310 (19:6035542 C>T), RS1000161172 (19:6012151 G>A), RS1000207007 (19:6023207 G>C), RS1000247729 (19:6065153 T>C,G), RS1000279278 (19:6019072 G>A), RS1000288781 (19:6108580 A>G), RS1000297636 (19:6011303 G>A), RS1000309615 (19:6017217 C>A,T), RS1000333568 (19:6096320 T>C), RS1000333833 (19:6047677 A>G), RS1000356848 (19:6017439 T>A,C)

Disease associations

OMIM: gene MIM:142765 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
cerebral palsy	Limited	Autosomal dominant

Mondo (1): cerebral palsy (MONDO:0006497)

Orphanet (0):

HPO phenotypes

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

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST004599_140	Mean platelet volume	2.000000e-10
GCST006979_741	Heel bone mineral density	1.000000e-09
GCST90002395_579	Mean platelet volume	2.000000e-19
GCST90002401_245	Platelet distribution width	9.000000e-12

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0009270	heel bone mineral density
EFO:0007984	platelet component distribution width

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D002547	Cerebral Palsy	C10.228.140.140.254

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

28 total (human), top 28 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression	4
Benzo(a)pyrene	affects methylation, increases expression	3
mercuric bromide	decreases expression, affects cotreatment	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Smoke	affects expression, increases abundance, increases expression	2
p-Chloromercuribenzoic Acid	affects cotreatment, decreases expression	2
triphenyl phosphate	affects expression	1
trichostatin A	affects expression	1
benzo(e)pyrene	affects methylation	1
aflatoxin B2	affects methylation	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression, increases expression	1
abrine	increases expression	1
dorsomorphin	affects cotreatment, decreases expression, increases expression	1
Resveratrol	increases phosphorylation	1
Acetaminophen	increases expression	1
Air Pollutants	increases abundance, increases expression	1
Cisplatin	decreases expression	1
Estradiol	decreases expression	1
Methapyrilene	affects methylation	1
Silicon Dioxide	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Urethane	increases expression	1
Cyclosporine	increases expression	1
Aflatoxin B1	affects methylation	1
Cadmium Chloride	increases expression	1
Okadaic Acid	increases expression	1

Cellosaurus cell lines

3 cell lines: 3 embryonic stem cell

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_A5V3	SEES3-1V human RFX2, clone1	Embryonic stem cell	Male
CVCL_A5V4	SEES3-1V human RFX2, clone2	Embryonic stem cell	Male
CVCL_A5V5	SEES3-1V human RFX2, clone3	Embryonic stem cell	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00154830	PHASE4	COMPLETED	Alterations of Functional Activities and Leg Stiffness After Hamstring Lengthening in Cerebral Palsy Children
NCT00432055	PHASE4	COMPLETED	Effects of Botulinum Toxin Type A in Adults With Cerebral Palsy
NCT00549471	PHASE4	TERMINATED	Improvement After Botulinum Toxin Injections to the Arms in Children With Cerebral Palsy
NCT00752934	PHASE4	TERMINATED	Does Oral Baclofen Improve Care and Comfort in Spastic Children in Nursing Homes?
NCT00964639	PHASE4	COMPLETED	Postoperative Pain in Children With Cerebral Palsy After Pelvic and Femoral Osteotomies
NCT01386255	PHASE4	WITHDRAWN	Placebo Controlled Study of Baclofen for GERD in Children With Cerebral Palsy
NCT02546999	PHASE4	COMPLETED	Does Botulinum Toxin A Make Walking Easier in Children With Cerebral Palsy?
NCT02633241	PHASE4	COMPLETED	A Pilot Study of Dexmedetomidine-Propofol in Children Undergoing Magnetic Resonance Imaging
NCT03117322	PHASE4	COMPLETED	Synbiotic, Prebiotics and Probiotics in Children With Cerebral Palsy and Constipation
NCT03648658	PHASE4	UNKNOWN	Paracetamol Study in Patients With Low Muscle Mass
NCT04074265	PHASE4	COMPLETED	Peri-operative Use of a Pain Injection in Pediatric Patients With Cerebral Palsy
NCT04273737	PHASE4	TERMINATED	Amantadine in Treating Cognitive & Motor Impairments in Adolescents and Adults With Cerebral Palsy
NCT04523935	PHASE4	COMPLETED	Excessive Crying in Children With Cerebral Palsy and Communication Deficits
NCT05887765	PHASE4	COMPLETED	Effect of Systematic Dexamethasone on the Duration of Popliteal Nerve Block for Anesthesia After Pediatric Ankle Surgery
NCT06176430	PHASE4	UNKNOWN	Comparison of Twice Weekly Versus Daily Iron Therapy in Treating Anemia in Children With Cerebral Palsy
NCT06189781	PHASE4	RECRUITING	Pain Injection Versus Epidural Anesthesia for Hip Surgery in Pediatric Patients With Cerebral Palsy
NCT00014989	PHASE3	COMPLETED	Beneficial Effects of Antenatal Magnesium Sulfate (BEAM Trial)
NCT00065949	PHASE3	UNKNOWN	Magnesium Sulfate to Prevent Brain Injury in Premature Infants
NCT00367068	PHASE3	COMPLETED	Dutch National ITB Study in Children With Cerebral Palsy
NCT00491894	PHASE3	COMPLETED	Safety and Efficacy Study of Oral Glycopyrrolate Liquid for the Treatment of Pathologic (Chronic Moderate to Severe) Drooling in Pediatric Patients 3 to 18 Years of Age With Cerebral Palsy or Other Neurologic Conditions
NCT00632528	PHASE3	COMPLETED	MEOPA to Improve Physical Therapy Results After Multilevel Surgery
NCT00822029	PHASE3	TERMINATED	Use of Oral Bisphosphonates in the Treatment of Osteoporosis of Non-walking Children With Cerebral Palsy
NCT00922077	PHASE3	COMPLETED	Individualized Neurodevelopmental Treatment
NCT01249417	PHASE3	COMPLETED	Dysport® Pediatric Lower Limb Spasticity Study
NCT01251380	PHASE3	COMPLETED	Dysport® Pediatric Lower Limb Spasticity Follow-on Study
NCT01437644	PHASE3	COMPLETED	The Post-Operative Pain in Cerebral Palsy (POPPIES) Trial
NCT01492608	PHASE3	COMPLETED	Magnesium Sulphate for Preterm Birth (MASP Study)
NCT01603602	PHASE3	COMPLETED	BOTOX® Treatment in Pediatric Upper Limb Spasticity
NCT01603615	PHASE3	COMPLETED	BOTOX® Open-Label Treatment in Pediatric Upper Limb Spasticity
NCT01603628	PHASE3	COMPLETED	BOTOX® Treatment in Pediatric Lower Limb Spasticity
NCT01603641	PHASE3	COMPLETED	BOTOX® Open-Label Treatment in Pediatric Lower Limb Spasticity
NCT01633736	PHASE3	UNKNOWN	Targeted Hip Strength Training in Children With Cerebral Palsy (CP)
NCT01898520	PHASE3	COMPLETED	A Safety, Efficacy and Tolerability Study of Sativex for the Treatment of Spasticity in Children Aged 8 to 18 Years
NCT01929434	PHASE3	COMPLETED	Efficacy of Stem Cell Transplantation Compared to Rehabilitation Treatment of Patients With Cerebral Paralysis
NCT02002884	PHASE3	COMPLETED	Dose-response Study of Efficacy and Safety of Botulinum Toxin Type A to Treat Spasticity of the Arm(s) or of Arm(s) and Leg(s) in Cerebral Palsy
NCT02270736	PHASE3	COMPLETED	Clinical Study to Investigate the Efficacy and Safety of NT 201 Compared to Placebo in the Treatment of Chronic Troublesome Drooling Associated With Neurological Disorders and/or Intellectual Disability
NCT02839785	PHASE3	TERMINATED	Analgesia and Physiotherapy in Children With Cerebral Palsy (ANTALKINECP)
NCT03110341	PHASE3	UNKNOWN	Effect of Erythropoietin in Premature Infants on White Matter Lesions and Neurodevelopmental Outcome
NCT03302871	PHASE3	COMPLETED	Integrated Management Enhances Functional Gains in Children With Cerebral Palsy Treated by BoNT-A
NCT03306212	PHASE3	COMPLETED	Efficacy of Intermittent Serial Casting on Spastic Wrist Flexion Deformity