REPS2

Summary

REPS2 (RALBP1 associated Eps domain containing 2, HGNC:9963) is a protein-coding gene on chromosome Xp22.2, encoding RalBP1-associated Eps domain-containing protein 2 (Q8NFH8). Involved in ligand-dependent receptor mediated endocytosis of the EGF and insulin receptors as part of the Ral signaling pathway.

The product of this gene is part of a protein complex that regulates the endocytosis of growth factor receptors. The encoded protein directly interacts with a GTPase activating protein that functions downstream of the small G protein Ral. Its expression can negatively affect receptor internalization and inhibit growth factor signaling. Multiple transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 9185 — RefSeq curated summary.

At a glance

• Gene–disease (curated): complex neurodevelopmental disorder (Moderate, GenCC)
• Clinical variants (ClinVar): 155 total — 1 pathogenic
• MANE Select transcript: NM_004726

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:9963
Approved symbol	REPS2
Name	RALBP1 associated Eps domain containing 2
Location	Xp22.2
Locus type	gene with protein product
Status	Approved
Aliases	POB1
Ensembl gene	ENSG00000169891
Ensembl biotype	protein_coding
OMIM	300317
Entrez	9185

Gene structure

Transcript identifiers

Ensembl transcripts: 15 — 12 protein_coding, 2 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000303843, ENST00000357277, ENST00000469714, ENST00000470686, ENST00000481792, ENST00000856229, ENST00000856230, ENST00000856231, ENST00000856232, ENST00000856233, ENST00000856234, ENST00000856235, ENST00000926451, ENST00000942316, ENST00000942317

RefSeq mRNA: 2 — MANE Select: NM_004726 NM_001080975, NM_004726

CCDS: CCDS14180, CCDS43919

Canonical transcript exons

ENST00000357277 — 18 exons

Exon	Start	End
ENSE00001150530	17069940	17069993
ENSE00001150535	17068402	17068471
ENSE00001150542	17062438	17062532
ENSE00001150546	17054808	17054950
ENSE00001150553	17052382	17052445
ENSE00001150561	17047347	17047482
ENSE00001150568	17029526	17029623
ENSE00001150575	17025059	17025185
ENSE00001201564	17077271	17077407
ENSE00001201572	17074114	17074159
ENSE00001898035	17147413	17153272
ENSE00002321724	16946658	16947134
ENSE00003465173	17135261	17135406
ENSE00003501872	17138856	17138961
ENSE00003522487	17022123	17022271
ENSE00003535244	17133824	17133907
ENSE00003578189	17006221	17006344
ENSE00003592399	17103718	17103779

Expression profiles

Bgee: expression breadth ubiquitous, 240 present calls, max score 93.98.

FANTOM5 (CAGE): breadth broad, TPM avg 3.9711 / max 483.1764, expressed in 629 samples.

FANTOM5 promoters (10 alternative TSS)

Promoter ID	TPM avg	Samples expressed
195658	1.2840	105
195652	1.2159	475
195654	0.9632	157
195651	0.2281	104
195653	0.1244	62
195659	0.0738	18
195666	0.0480	16
195657	0.0234	11
195656	0.0066	3
195655	0.0038	2

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
middle temporal gyrus	UBERON:0002771	93.98	gold quality
corpus epididymis	UBERON:0004359	93.78	gold quality
adrenal tissue	UBERON:0018303	92.76	gold quality
lateral nuclear group of thalamus	UBERON:0002736	92.50	gold quality
Brodmann (1909) area 23	UBERON:0013554	92.33	gold quality
postcentral gyrus	UBERON:0002581	90.30	gold quality
parietal lobe	UBERON:0001872	89.90	gold quality
sural nerve	UBERON:0015488	89.39	gold quality
superior frontal gyrus	UBERON:0002661	89.35	gold quality
blood	UBERON:0000178	89.22	gold quality
pons	UBERON:0000988	88.91	gold quality
corpus callosum	UBERON:0002336	88.48	gold quality
prefrontal cortex	UBERON:0000451	88.36	gold quality
entorhinal cortex	UBERON:0002728	88.11	gold quality
body of pancreas	UBERON:0001150	87.54	gold quality
right adrenal gland	UBERON:0001233	87.36	gold quality
substantia nigra pars compacta	UBERON:0001965	87.24	gold quality
right adrenal gland cortex	UBERON:0035827	87.10	gold quality
left adrenal gland	UBERON:0001234	86.76	gold quality
substantia nigra pars reticulata	UBERON:0001966	86.67	gold quality
left adrenal gland cortex	UBERON:0035825	86.63	gold quality
adrenal gland	UBERON:0002369	86.07	gold quality
endothelial cell	CL:0000115	85.68	gold quality
adrenal cortex	UBERON:0001235	85.68	gold quality
superior vestibular nucleus	UBERON:0007227	85.65	gold quality
primary visual cortex	UBERON:0002436	85.62	gold quality
frontal cortex	UBERON:0001870	85.51	gold quality
occipital lobe	UBERON:0002021	85.27	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	85.27	gold quality
right frontal lobe	UBERON:0002810	84.74	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): NFKB1, RELA

miRNA regulators (miRDB)

285 targeting REPS2, 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-4262	100.00	73.26	3931
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
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-4282	99.99	75.36	6408
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-433-3P	99.98	69.37	1203
HSA-MIR-3692-3P	99.98	70.27	2139
HSA-MIR-485-3P	99.98	70.68	1585
HSA-MIR-539-3P	99.98	70.74	1616

Literature-anchored findings (GeneRIF, showing 11)

• These results suggest that POB1 interacts with PAG2 through its proline-rich motif, thereby regulating cell migration. (PMID:12149250)
• POB1, through its influence on the Ral signalling pathway, is involved in growth factor signalling and consequently in control of cell proliferation (PMID:12771942)
• decreased expression of REPS2 might be a key factor, causing prostate cancer cells to become resistant to induction of apoptosis by androgen deprivation. (PMID:15184881)
• Decreased REPS2 expression is associated with androgen-independent state of advanced prostate cancer (PMID:15455380)
• These results show for the first time that POB1 can regulate the transport function of RLIP76 and are consistent with our previous studies showing that inhibition of RLIP76 induces apoptosis in cancer cells. (PMID:15707977)
• Hsf-1 causes specific and saturable inhibition of the transport activity of Ralbp1 and that the combination of Hsf-1 and POB1 causes nearly complete inhibition through specific bindings with Ralbp1. (PMID:18474607)
• REPS2 may be a useful tumor marker for favorable prognosis in breast cancer. (PMID:19776672)
• downregulation of REPS2 may contribute to malignant progression of esophageal squamous cell carcinoma and represent a novel prognostic marker and a potential therapeutic target for esophageal squamous cell carcinoma patients. (PMID:23803043)
• miR-675-5p might play an oncogenic role in esophageal squamous cell carcinoma (ESCC) through RalBP1/RAC1/CDC42 signaling pathway by inhibiting REPS2 and might serve as a valuable prognostic biomarker and therapeutic target for ESCC patients. (PMID:27120794)
• HIV-1 gp41 promotes viral endocytosis in a CD4-independent manner by interacting with the host protein POB1. (PMID:28579616)
• REPS2 downregulation facilitates FGF-induced adhesion and migration in human lens epithelial cells through FAK/Cdc42 signaling and contributes to posterior capsule opacification. (PMID:35690292)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	reps2	ENSDARG00000076768
danio_rerio		ENSDARG00000115013
mus_musculus	Reps2	ENSMUSG00000040855
rattus_norvegicus	Reps2	ENSRNOG00000061508

Paralogs (10): EHD3 (ENSG00000013016), EHD2 (ENSG00000024422), EPS15 (ENSG00000085832), EHD4 (ENSG00000103966), EHD1 (ENSG00000110047), EPS15L1 (ENSG00000127527), REPS1 (ENSG00000135597), SRL (ENSG00000185739), ITSN2 (ENSG00000198399), ITSN1 (ENSG00000205726)

Protein

Protein identifiers

RalBP1-associated Eps domain-containing protein 2 — Q8NFH8 (reviewed: Q8NFH8)

Alternative names: Partner of RalBP1, RalBP1-interacting protein 2

All UniProt accessions (1): Q8NFH8

UniProt curated annotations — full annotation on UniProt →

Function. Involved in ligand-dependent receptor mediated endocytosis of the EGF and insulin receptors as part of the Ral signaling pathway. By controlling growth factor receptors endocytosis may regulate cell survival. Through ASAP1 may regulate cell adhesion and migration.

Subunit / interactions. Interacts with EPN1; the interaction is direct. Interacts with EPS15; the interaction is direct. Interacts with EPS15L1. Interacts with RALBP1; can form a ternary complex with activated Ral (RALA or RALB). Interacts with ASAP1; the interaction is direct and this complex can bind paxillin. Also forms a ternary complex with RALBP1 and ASAP1. Interacts with GRB2.

Subcellular location. Cytoplasm.

Tissue specificity. Expressed at high levels in the cerebrum, cerebellum, lung, kidney, and testis. Weakly expressed in the kidney. Isoform 2 is down-regulated during progression of prostate cancer.

Post-translational modifications. Tyrosine-phosphorylated upon stimulation of cells with EGF. Phosphorylation on Tyr-residues induces its association with the EGF receptor probably indirectly through an adapter like GRB2.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8NFH8-1	1, REPS2a, Long	yes
Q8NFH8-4	2, REPS2b, Short

RefSeq proteins (2): NP_001074444, NP_004717* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000261	EH_dom	Domain
IPR002048	EF_hand_dom	Domain
IPR011992	EF-hand-dom_pair	Homologous_superfamily
IPR018247	EF_Hand_1_Ca_BS	Binding_site

Pfam: PF12763

UniProt features (31 total): strand 5, binding site 4, helix 4, region of interest 4, domain 3, modified residue 3, compositionally biased region 2, mutagenesis site 2, chain 1, splice variant 1, sequence variant 1, coiled-coil region 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
1IQ3	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NFH8-F1	59.55	0.18

Functional residue map

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

Ligand- & substrate-binding residues (4): 328; 330; 332; 339

Post-translational modifications (3): 254, 479, 493

Mutagenesis-validated functional residues (2):

Position	Phenotype
562	abolishes interaction with asap1.
565	abolishes interaction with asap1.

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-8856825	Cargo recognition for clathrin-mediated endocytosis
R-HSA-8856828	Clathrin-mediated endocytosis

MSigDB gene sets: 239 (showing top): WANG_CLIM2_TARGETS_UP, BENPORATH_ES_WITH_H3K27ME3, HNF3ALPHA_Q6, GCANCTGNY_MYOD_Q6, GOBP_VESICLE_MEDIATED_TRANSPORT, TAL1ALPHAE47_01, REACTOME_MEMBRANE_TRAFFICKING, CAGCTG_AP4_Q5, MORF_RAD51L3, MODULE_379, GOBP_ERBB_SIGNALING_PATHWAY, MORF_CTSB, SMID_BREAST_CANCER_LUMINAL_B_UP, MORF_IL4, HFH3_01

GO Biological Process (4): endocytosis (GO:0006897), epidermal growth factor receptor signaling pathway (GO:0007173), endosomal transport (GO:0016197), protein-containing complex assembly (GO:0065003)

GO Molecular Function (4): calcium ion binding (GO:0005509), protein-macromolecule adaptor activity (GO:0030674), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (3): cytoplasm (GO:0005737), cytosol (GO:0005829), plasma membrane (GO:0005886)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Clathrin-mediated endocytosis	1
Membrane Trafficking	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
vesicle-mediated transport	2
cellular anatomical structure	2
vesicle budding from membrane	1
membrane invagination	1
import into cell	1
ERBB signaling pathway	1
intracellular transport	1
cellular component assembly	1
protein-containing complex organization	1
metal ion binding	1
protein binding	1
molecular adaptor activity	1
binding	1
cation binding	1
intracellular anatomical structure	1
cytoplasm	1
membrane	1
cell periphery	1

Protein interactions and networks

STRING

816 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
REPS2	RALBP1	Q15311	943
REPS2	EPN1	Q9Y6I3	853
REPS2	EPN3	Q9H201	780
REPS2	EPN2	O95208	778
REPS2	RALA	P11233	774
REPS2	AP2A1	O95782	693
REPS2	RALGDS	Q12967	604
REPS2	RAI2	Q9Y5P3	512
REPS2	SNAP91	O60641	501
REPS2	CDC42	P21181	494
REPS2	AMER3	Q8N944	473
REPS2	REPS1	Q96D71	473
REPS2	NCK1	P16333	470
REPS2	LSMEM1	Q8N8F7	461
REPS2	ARF3	P16587	454

IntAct

64 interactions, top by confidence:

A	B	Type	Score
RALBP1	JUN	psi-mi:“MI:0914”(association)	0.640
EPN1	REPS2	psi-mi:“MI:0915”(physical association)	0.610
EPN1	REPS2	psi-mi:“MI:0407”(direct interaction)	0.610
BIN1	REPS2	psi-mi:“MI:0915”(physical association)	0.600
GRB2	REPS2	psi-mi:“MI:0915”(physical association)	0.600
GRB2	REPS2	psi-mi:“MI:0407”(direct interaction)	0.600
BIN1	REPS2	psi-mi:“MI:0407”(direct interaction)	0.600
TRAPPC2L	TRAPPC13	psi-mi:“MI:0914”(association)	0.560
TRAPPC2L	REPS2	psi-mi:“MI:0915”(physical association)	0.550
REPS2	Eps15	psi-mi:“MI:0407”(direct interaction)	0.540
Eps15	REPS2	psi-mi:“MI:0407”(direct interaction)	0.540
Eps15	REPS2	psi-mi:“MI:0915”(physical association)	0.540
REPS2	Eps15	psi-mi:“MI:0915”(physical association)	0.540

BioGRID (47): GNL2 (Co-fractionation), REPS2 (Affinity Capture-MS), REPS2 (Affinity Capture-MS), REPS2 (Affinity Capture-MS), REPS2 (Affinity Capture-MS), REPS2 (Affinity Capture-MS), REPS2 (Affinity Capture-MS), REPS2 (Affinity Capture-MS), REPS2 (Affinity Capture-MS), REPS2 (Affinity Capture-MS), REPS2 (Affinity Capture-MS), REPS2 (Affinity Capture-MS), REPS2 (Affinity Capture-MS), REPS2 (Affinity Capture-MS), REPS2 (Affinity Capture-RNA)

ESM2 similar proteins: A0A088MLT8, A2AQ25, B3KU38, B5DF41, E9PSK7, O15079, O35274, P0DPB3, P0DPB4, P12755, P49140, P85299, Q0D2I5, Q14DQ1, Q1LY51, Q3B7M3, Q3SYW5, Q4KMA0, Q4R3X1, Q50H33, Q5F3L9, Q5FVG6, Q5RD40, Q5XKK7, Q60698, Q6ZNC4, Q6ZUS6, Q6ZWB6, Q80U23, Q80U62, Q80XA6, Q812A5, Q86YI8, Q8BXL9, Q8K2W6, Q8ND83, Q8NFH8, Q8QFX1, Q8TEK3, Q924W7

Diamond homologs: A1CD74, A1CPG1, A1D2B8, A1DC51, A1DDY6, A2QRG2, A2R180, A3LN86, A3M008, A4R8N4, A5DF78, A5DP36, A5DVD6, A5DXI9, A6R7X5, A6RFP4, A6S9N4, A6SIJ6, A7E7N7, A7EKZ0, B0XR88, B0YC95, B2AS96, B2AWS3, L7IIY8, O42287, O54916, O94685, P0CT09, P32521, P42566, P42567, Q0CPW4, Q0D0N9, Q1DQC1, Q1DUU2, Q2H2V8, Q2H922, Q2UCH0, Q2UDY8

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
CDK1	“down-regulates activity”	REPS2	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 44 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 NTRK1 (TRKA)	5	34.0×	5e-06
Cargo recognition for clathrin-mediated endocytosis	9	32.5×	7e-10
Signaling by NTRKs	5	31.2×	7e-06
Clathrin-mediated endocytosis	10	29.4×	2e-10
EPH-Ephrin signaling	5	28.5×	1e-05
G2/M DNA damage checkpoint	5	20.7×	4e-05
Potential therapeutics for SARS	5	19.7×	5e-05
Signaling by WNT	5	19.3×	5e-05

GO biological processes:

GO term	Partners	Fold	FDR
synaptic vesicle endocytosis	5	65.5×	2e-06
intracellular protein localization	5	15.9×	1e-03
intracellular protein transport	5	9.8×	8e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	52
Likely benign	10
Benign	1

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
253615	GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3	Pathogenic

SpliceAI

4526 predictions. Top by Δscore:

Variant	Effect	Δscore
X:16979814:ACATG:A	acceptor_gain	1.0000
X:17006219:A:AG	acceptor_gain	1.0000
X:17006220:G:GG	acceptor_gain	1.0000
X:17006342:GTG:G	donor_gain	1.0000
X:17022112:T:TA	acceptor_gain	1.0000
X:17029519:GTTTC:G	acceptor_loss	1.0000
X:17029521:TTCA:T	acceptor_loss	1.0000
X:17029522:TCA:T	acceptor_loss	1.0000
X:17029523:CAGC:C	acceptor_loss	1.0000
X:17029524:A:AG	acceptor_gain	1.0000
X:17029524:A:C	acceptor_loss	1.0000
X:17029525:G:GA	acceptor_gain	1.0000
X:17029525:GC:G	acceptor_gain	1.0000
X:17029525:GCA:G	acceptor_gain	1.0000
X:17029525:GCAC:G	acceptor_gain	1.0000
X:17029525:GCACC:G	acceptor_gain	1.0000
X:17029621:CGGG:C	donor_loss	1.0000
X:17029622:GG:G	donor_gain	1.0000
X:17029623:GG:G	donor_gain	1.0000
X:17029623:GGT:G	donor_loss	1.0000
X:17029624:G:T	donor_loss	1.0000
X:17029625:T:A	donor_loss	1.0000
X:17044616:GCTCA:G	donor_gain	1.0000
X:17047345:A:AG	acceptor_gain	1.0000
X:17047346:G:GT	acceptor_gain	1.0000
X:17047346:GT:G	acceptor_gain	1.0000
X:17047346:GTC:G	acceptor_gain	1.0000
X:17047346:GTCC:G	acceptor_gain	1.0000
X:17047346:GTCCT:G	acceptor_gain	1.0000
X:17047479:TCAGG:T	donor_loss	1.0000

AlphaMissense

4261 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:17047401:T:A	W276R	1.000
X:17047401:T:C	W276R	1.000
X:17047444:T:C	F290S	1.000
X:17047477:T:A	I301N	1.000
X:17052382:G:A	G303D	1.000
X:17052391:C:A	A306D	1.000
X:17052395:G:C	K307N	1.000
X:17052395:G:T	K307N	1.000
X:17052403:T:C	F310S	1.000
X:17052418:T:C	L315P	1.000
X:17052433:T:A	L320H	1.000
X:17052433:T:C	L320P	1.000
X:17052442:T:A	I323K	1.000
X:17052442:T:G	I323R	1.000
X:17052444:T:A	W324R	1.000
X:17052444:T:C	W324R	1.000
X:17052445:G:C	W324S	1.000
X:17054808:G:C	W324C	1.000
X:17054808:G:T	W324C	1.000
X:17054813:T:C	L326P	1.000
X:17054819:A:T	D328V	1.000
X:17054840:T:A	L335Q	1.000
X:17054840:T:C	L335P	1.000
X:17054854:T:C	F340L	1.000
X:17054855:T:C	F340S	1.000
X:17054856:C:A	F340L	1.000
X:17054856:C:G	F340L	1.000
X:17054864:C:A	A343E	1.000
X:17054869:C:G	H345D	1.000
X:17054873:T:C	L346P	1.000

dbSNP variants (sampled 300 via entrez): RS1000012663 (X:17095861 A>G), RS1000053222 (X:17129482 G>A), RS1000058631 (X:16963472 A>C,G), RS1000063816 (X:17140586 C>A), RS1000070511 (X:16997727 G>A), RS1000081602 (X:17170960 C>G), RS1000085012 (X:17072175 A>G), RS1000102985 (X:17002953 C>G), RS1000123046 (X:16962172 G>A), RS1000125355 (X:17138842 G>A,T), RS1000141667 (X:17042707 C>T), RS1000157089 (X:17176667 A>G), RS1000191275 (X:17074556 A>G), RS1000202887 (X:17164574 G>C), RS1000215347 (X:16958058 G>A)

Disease associations

OMIM: gene MIM:300317 | disease phenotypes: MIM:308350

GenCC curated gene-disease

Disease	Classification	Inheritance
complex neurodevelopmental disorder	Moderate	X-linked

Mondo (2): developmental and epileptic encephalopathy, 1 (MONDO:0010632), complex neurodevelopmental disorder (MONDO:0100038)

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases expression, affects methylation	4
sodium arsenite	decreases expression, increases expression	2
Nickel	decreases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Valproic Acid	increases expression, increases methylation	2
Aflatoxin B1	decreases methylation, decreases expression	2
p-Chloromercuribenzoic Acid	decreases expression, affects cotreatment	2
aristolochic acid I	decreases expression	1
FR900359	increases phosphorylation	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	increases expression	1
2,5,2’,5’-tetrachlorobiphenyl	decreases expression	1
arsenite	affects binding, increases reaction	1
aflatoxin B2	decreases methylation	1
nickel sulfate	increases expression	1
mercuric bromide	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
Am 580	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	decreases expression, affects cotreatment	1
dorsomorphin	affects cotreatment, decreases expression	1
bisphenol S	decreases methylation	1
Rosiglitazone	decreases expression	1
Sunitinib	decreases expression	1
Zoledronic Acid	increases expression	1
Norethindrone Acetate	affects cotreatment, increases expression	1
Amphotericin B	decreases expression	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Estradiol	affects cotreatment, increases expression	1
Ethinyl Estradiol	affects expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT06310681	Not specified	COMPLETED	Pilot Testing of a Co-adapted Group Programme for Parents/Carers of Children With Complex Neurodisability
NCT07303049	Not specified	NOT_YET_RECRUITING	Cognitive Benefit of Intensive Rehabilitation Using Rhythmic Music Training in Children With Complex Neurodevelopmental Disorder