MARCHF4

Summary

MARCHF4 (membrane associated ring-CH-type finger 4, HGNC:29269) is a protein-coding gene on chromosome 2q35, encoding E3 ubiquitin-protein ligase MARCHF4 (Q9P2E8). E3 ubiquitin-protein ligase that may mediate ubiquitination of MHC-I and CD4, and promote their subsequent endocytosis and sorting to lysosomes via multivesicular bodies.

MARCH4 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). MARCH enzymes add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their vesicular transport between membrane compartments. MARCH4 reduces surface accumulation of several membrane glycoproteins by directing them to the endosomal compartment (Bartee et al., 2004 [PubMed 14722266]).

Source: NCBI Gene 57574 — RefSeq curated summary.

At a glance

• GWAS associations: 7
• Clinical variants (ClinVar): 62 total
• MANE Select transcript: NM_020814

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29269
Approved symbol	MARCHF4
Name	membrane associated ring-CH-type finger 4
Location	2q35
Locus type	gene with protein product
Status	Approved
Aliases	KIAA1399, MARCH-IV, RNF174
Ensembl gene	ENSG00000144583
Ensembl biotype	protein_coding
OMIM	608208
Entrez	57574

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000273067

RefSeq mRNA: 1 — MANE Select: NM_020814 NM_020814

CCDS: CCDS33376

Canonical transcript exons

ENST00000273067 — 4 exons

Exon	Start	End
ENSE00001266267	216257865	216259679
ENSE00001266277	216369745	216372483
ENSE00001316970	216283574	216283729
ENSE00001641317	216277672	216277864

Expression profiles

Bgee: expression breadth broad, 87 present calls, max score 95.86.

FANTOM5 (CAGE): breadth broad, TPM avg 4.2780 / max 134.6185, expressed in 826 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
33769	1.4372	582
33772	1.3130	560
33768	0.7518	378
33770	0.4474	116
33771	0.2182	105
33767	0.1104	40

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cortical plate	UBERON:0005343	95.86	gold quality
oocyte	CL:0000023	92.22	gold quality
secondary oocyte	CL:0000655	88.45	gold quality
ganglionic eminence	UBERON:0004023	81.81	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	80.97	silver quality
Brodmann (1909) area 46	UBERON:0006483	80.00	gold quality
entorhinal cortex	UBERON:0002728	79.75	gold quality
prefrontal cortex	UBERON:0000451	77.25	gold quality
islet of Langerhans	UBERON:0000006	77.13	gold quality
stromal cell of endometrium	CL:0002255	77.06	gold quality
superior frontal gyrus	UBERON:0002661	76.91	gold quality
middle temporal gyrus	UBERON:0002771	76.82	gold quality
Brodmann (1909) area 23	UBERON:0013554	75.40	gold quality
postcentral gyrus	UBERON:0002581	75.18	gold quality
frontal cortex	UBERON:0001870	75.16	gold quality
neocortex	UBERON:0001950	74.61	gold quality
nucleus accumbens	UBERON:0001882	74.16	gold quality
cerebral cortex	UBERON:0000956	73.89	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	73.41	gold quality
temporal lobe	UBERON:0001871	73.00	gold quality
parietal lobe	UBERON:0001872	72.69	silver quality
primary visual cortex	UBERON:0002436	72.53	gold quality
right frontal lobe	UBERON:0002810	72.32	gold quality
forebrain	UBERON:0001890	71.79	gold quality
anterior cingulate cortex	UBERON:0009835	71.77	gold quality
caudate nucleus	UBERON:0001873	71.43	gold quality
Brodmann (1909) area 9	UBERON:0013540	70.49	gold quality
pituitary gland	UBERON:0000007	70.47	gold quality
putamen	UBERON:0001874	70.26	gold quality
amygdala	UBERON:0001876	69.84	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.80

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

102 targeting MARCHF4, 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-6867-5P	100.00	82.21	3464
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-3163	100.00	77.23	8605
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-25-3P	99.98	74.60	1817
HSA-MIR-363-3P	99.98	74.72	1821
HSA-MIR-367-3P	99.98	74.83	1819
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-23B-5P	99.98	66.07	587
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-23A-5P	99.94	65.39	468
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-218-5P	99.93	72.22	2103
HSA-MIR-497-5P	99.92	71.83	2674

Literature-anchored findings (GeneRIF, showing 1)

• Membrane-Associated RING-CH proteins MARCH VIII and MARCH IV associate with Bap31 and target CD81 and CD44 to lysosomes (PMID:21151997)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	marchf4a	ENSDARG00000055839
danio_rerio	marchf4b	ENSDARG00000056439
mus_musculus	Marchf4	ENSMUSG00000039372
rattus_norvegicus	Marchf4	ENSRNOG00000016472

Paralogs (6): MARCHF2 (ENSG00000099785), MARCHF9 (ENSG00000139266), MARCHF1 (ENSG00000145416), MARCHF8 (ENSG00000165406), MARCHF3 (ENSG00000173926), MARCHF11 (ENSG00000183654)

Protein

Protein identifiers

E3 ubiquitin-protein ligase MARCHF4 — Q9P2E8 (reviewed: Q9P2E8)

Alternative names: Membrane-associated RING finger protein 4, Membrane-associated RING-CH protein IV, RING finger protein 174, RING-type E3 ubiquitin transferase MARCHF4

All UniProt accessions (1): Q9P2E8

UniProt curated annotations — full annotation on UniProt →

Function. E3 ubiquitin-protein ligase that may mediate ubiquitination of MHC-I and CD4, and promote their subsequent endocytosis and sorting to lysosomes via multivesicular bodies. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfer the ubiquitin to targeted substrates.

Subcellular location. Golgi apparatus membrane.

Tissue specificity. Expressed in brain and placenta.

Domain organisation. The RING-CH-type zinc finger domain is required for E3 ligase activity.

Pathway. Protein modification; protein ubiquitination.

RefSeq proteins (1): NP_065865* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR011016	Znf_RING-CH	Domain
IPR013083	Znf_RING/FYVE/PHD	Homologous_superfamily
IPR046356	MARCHF4/9/11	Family
IPR047905	MARCHF4_RING_CH-C4HC3	Domain

Pfam: PF12906

UniProt features (20 total): binding site 8, compositionally biased region 4, region of interest 3, transmembrane region 2, signal peptide 1, chain 1, zinc finger region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9P2E8-F1	62.42	0.14

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 (8): 163; 166; 179; 181; 189; 192; 205; 208

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 89 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_DN, GOCC_TRANS_GOLGI_NETWORK, CORRE_MULTIPLE_MYELOMA_UP, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, TGTTTAC_MIR30A5P_MIR30C_MIR30D_MIR30B_MIR30E5P, SENESE_HDAC3_TARGETS_DN, GOCC_GOLGI_STACK, GOCC_ORGANELLE_SUBCOMPARTMENT, GOMF_ACYLTRANSFERASE_ACTIVITY, GOMF_AMINOACYLTRANSFERASE_ACTIVITY, GOMF_UBIQUITIN_LIKE_PROTEIN_LIGASE_ACTIVITY, DODD_NASOPHARYNGEAL_CARCINOMA_DN, MODULE_49, MEISSNER_NPC_HCP_WITH_H3K4ME2, MIKKELSEN_MEF_HCP_WITH_H3K27ME3

GO Biological Process (1): protein ubiquitination (GO:0016567)

GO Molecular Function (5): ubiquitin-protein transferase activity (GO:0004842), zinc ion binding (GO:0008270), ubiquitin protein ligase activity (GO:0061630), transferase activity (GO:0016740), metal ion binding (GO:0046872)

GO Cellular Component (5): Golgi membrane (GO:0000139), Golgi stack (GO:0005795), trans-Golgi network (GO:0005802), Golgi apparatus (GO:0005794), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
Golgi apparatus subcompartment	2
protein modification by small protein conjugation	1
ubiquitin-like protein transferase activity	1
transition metal ion binding	1
ubiquitin-protein transferase activity	1
ubiquitin-like protein ligase activity	1
catalytic activity	1
cation binding	1
Golgi apparatus	1
bounding membrane of organelle	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

628 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MARCHF4	UBE2H	P37286	681
MARCHF4	AP1M1	Q9BXS5	670
MARCHF4	MARCHF10	Q8NA82	582
MARCHF4	UBA1	P22314	490
MARCHF4	MARCHF6	O60337	474
MARCHF4	MARCHF7	Q9H992	474
MARCHF4	LIN7C	Q9NUP9	474
MARCHF4	RNF139	Q8WU17	464
MARCHF4	RNF5	Q99942	435
MARCHF4	UBE2QL1	A1L167	391
MARCHF4	UBE2E1	P51965	388
MARCHF4	MARCHF5	Q9NX47	379
MARCHF4	AMFR	P26442	374
MARCHF4	SYVN1	Q86TM6	364
MARCHF4	RNF223	E7ERA6	359

IntAct

120 interactions, top by confidence:

A	B	Type	Score
MARCHF4	GORASP2	psi-mi:“MI:0407”(direct interaction)	0.440
PATJ	MARCHF4	psi-mi:“MI:0407”(direct interaction)	0.440
MARCHF4	SNX27	psi-mi:“MI:0407”(direct interaction)	0.440
MARCHF4	DLG1	psi-mi:“MI:0407”(direct interaction)	0.440
MARCHF4	MAST2	psi-mi:“MI:0407”(direct interaction)	0.440
MARCHF4	PDZD7	psi-mi:“MI:0407”(direct interaction)	0.440
MARCHF4	DLG4	psi-mi:“MI:0407”(direct interaction)	0.440
MARCHF4	LNX2	psi-mi:“MI:0407”(direct interaction)	0.440
MARCHF4	DLG3	psi-mi:“MI:0407”(direct interaction)	0.440
MARCHF4	DLG2	psi-mi:“MI:0407”(direct interaction)	0.440
MAGI2	MARCHF4	psi-mi:“MI:0407”(direct interaction)	0.440
MARCHF4	SNTB1	psi-mi:“MI:0407”(direct interaction)	0.440
MARCHF4	SNTA1	psi-mi:“MI:0407”(direct interaction)	0.440
MARCHF4	MAGI3	psi-mi:“MI:0407”(direct interaction)	0.440
MARCHF4	GOPC	psi-mi:“MI:0407”(direct interaction)	0.440
MARCHF4	HTRA1	psi-mi:“MI:0407”(direct interaction)	0.440
MARCHF4	SNTG1	psi-mi:“MI:0407”(direct interaction)	0.440
ARHGEF12	MARCHF4	psi-mi:“MI:0407”(direct interaction)	0.440
MARCHF4	SYNJ2BP	psi-mi:“MI:0407”(direct interaction)	0.440
MARCHF4	MAGI1	psi-mi:“MI:0407”(direct interaction)	0.440
MARCHF4	TAX1BP3	psi-mi:“MI:0407”(direct interaction)	0.440
MARCHF4	HTRA4	psi-mi:“MI:0407”(direct interaction)	0.440
MARCHF4	RADIL	psi-mi:“MI:0407”(direct interaction)	0.440
SCRIB	MARCHF4	psi-mi:“MI:0407”(direct interaction)	0.440

BioGRID (113): HSPA5 (Affinity Capture-MS), BAG2 (Affinity Capture-MS), PON2 (Affinity Capture-MS), STUB1 (Affinity Capture-MS), DNAJB12 (Affinity Capture-MS), NCSTN (Affinity Capture-MS), GLA (Affinity Capture-MS), CLPTM1L (Affinity Capture-MS), SORT1 (Affinity Capture-MS), ZMPSTE24 (Affinity Capture-MS), ERLEC1 (Affinity Capture-MS), DNAJC16 (Affinity Capture-MS), SDF2L1 (Affinity Capture-MS), PREB (Affinity Capture-MS), TMEM33 (Affinity Capture-MS)

ESM2 similar proteins: A0A0U1RQ45, A0A1B0GWB2, A2A9T0, A6QPA0, A7MCY6, D3ZFB6, E9PUL5, E9Q0B3, F5GYI3, F5H4A9, J3QNX5, O70142, P0C1G7, P81408, P97764, P98077, Q148V8, Q15654, Q2KI80, Q3SX26, Q3SZL6, Q4V9L6, Q5FVJ4, Q5FW56, Q5RAC1, Q5T7N3, Q6DG50, Q6PAJ3, Q6PJ61, Q6ZMQ8, Q6ZNR0, Q6ZRV2, Q75VX8, Q7Z6L0, Q86UK7, Q86VE0, Q8BGW2, Q8BRJ3, Q8BX43, Q8C0R7

Diamond homologs: A0JN69, A6NNE9, A6P320, F4JKK0, O60103, O60337, P40318, P90489, P90495, Q0IH10, Q0P496, Q0VD59, Q1LVZ2, Q28EX7, Q32L65, Q3TZ87, Q5I0I2, Q5PQ35, Q5R9W1, Q5T0T0, Q5XIE5, Q5XIV2, Q68FA7, Q6NZQ8, Q6ZQ89, Q80TE3, Q86UD3, Q86YJ5, Q8BRX9, Q8CBH7, Q8TCQ1, Q99M02, Q9DBD2, Q9P0N8, Q9P2E8, Q0X0A5, Q28IK8, Q3KNM2, Q3ZC24, Q5R9W2

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
Ub:E2	“up-regulates activity”	MARCHF4	ubiquitination

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 74 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
Assembly and cell surface presentation of NMDA receptors	8	43.2×	8e-10
Neurexins and neuroligins	9	37.7×	3e-10
Protein-protein interactions at synapses	5	28.2×	5e-05
Signaling by Rho GTPases	7	5.1×	4e-03
Signaling by Rho GTPases, Miro GTPases and RHOBTB3	7	5.0×	4e-03

GO biological processes:

GO term	Partners	Fold	FDR
establishment or maintenance of epithelial cell apical/basal polarity	9	72.6×	1e-12
protein localization to synapse	5	53.2×	2e-06
receptor clustering	6	52.0×	2e-07
regulation of postsynaptic membrane neurotransmitter receptor levels	6	41.3×	6e-07
cell-cell adhesion	8	11.3×	3e-05
protein-containing complex assembly	6	9.5×	1e-03
protein localization to plasma membrane	5	7.5×	8e-03
chemical synaptic transmission	7	7.5×	1e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	53
Likely benign	6
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

1398 predictions. Top by Δscore:

Variant	Effect	Δscore
2:216259687:A:T	acceptor_gain	1.0000
2:216259689:C:CT	acceptor_gain	1.0000
2:216277702:T:TA	donor_gain	1.0000
2:216277703:C:A	donor_gain	1.0000
2:216277860:TGCCA:T	acceptor_gain	1.0000
2:216277861:GCCA:G	acceptor_gain	1.0000
2:216277862:CCA:C	acceptor_gain	1.0000
2:216277862:CCAC:C	acceptor_gain	1.0000
2:216277863:CA:C	acceptor_gain	1.0000
2:216277863:CAC:C	acceptor_gain	1.0000
2:216277864:AC:A	acceptor_loss	1.0000
2:216277865:C:CC	acceptor_gain	1.0000
2:216283569:TGTA:T	donor_loss	1.0000
2:216283570:GTACC:G	donor_loss	1.0000
2:216283572:A:T	donor_loss	1.0000
2:216283573:C:CT	donor_loss	1.0000
2:216283726:CCCC:C	acceptor_gain	1.0000
2:216283727:CCC:C	acceptor_gain	1.0000
2:216283727:CCCC:C	acceptor_gain	1.0000
2:216283728:CC:C	acceptor_gain	1.0000
2:216283728:CCC:C	acceptor_gain	1.0000
2:216283729:CC:C	acceptor_gain	1.0000
2:216283729:CCT:C	acceptor_loss	1.0000
2:216283730:C:CA	acceptor_loss	1.0000
2:216283730:C:CC	acceptor_gain	1.0000
2:216283731:T:C	acceptor_loss	1.0000
2:216259680:C:CG	acceptor_loss	0.9900
2:216259681:T:C	acceptor_loss	0.9900
2:216259686:C:CT	acceptor_gain	0.9900
2:216259690:A:T	acceptor_gain	0.9900

AlphaMissense

2658 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:216259609:C:A	W312C	1.000
2:216259609:C:G	W312C	1.000
2:216259611:A:G	W312R	1.000
2:216259611:A:T	W312R	1.000
2:216259632:A:G	W305R	1.000
2:216259632:A:T	W305R	1.000
2:216259676:A:G	L290P	1.000
2:216277678:A:G	C287R	1.000
2:216277688:C:A	M283I	1.000
2:216277688:C:G	M283I	1.000
2:216277688:C:T	M283I	1.000
2:216277718:G:C	F273L	1.000
2:216277718:G:T	F273L	1.000
2:216277720:A:G	F273L	1.000
2:216277777:A:G	W254R	1.000
2:216277777:A:T	W254R	1.000
2:216277784:A:C	S251R	1.000
2:216277784:A:T	S251R	1.000
2:216277786:T:G	S251R	1.000
2:216277807:C:G	G244R	1.000
2:216277836:T:A	E234V	1.000
2:216277864:A:G	W225R	1.000
2:216277864:A:T	W225R	1.000
2:216283611:T:C	Y212C	1.000
2:216283612:A:C	Y212D	1.000
2:216283612:A:G	Y212H	1.000
2:216283622:G:C	C208W	1.000
2:216283623:C:A	C208F	1.000
2:216283623:C:G	C208S	1.000
2:216283623:C:T	C208Y	1.000

dbSNP variants (sampled 300 via entrez): RS1000008380 (2:216333793 G>A), RS1000063618 (2:216335058 T>C), RS1000064920 (2:216323559 G>T), RS1000115392 (2:216283995 C>T), RS1000122748 (2:216289662 T>C), RS1000162782 (2:216332251 G>A), RS1000167039 (2:216268441 TC>T), RS1000180752 (2:216359219 G>A), RS1000224265 (2:216372777 A>G), RS1000240683 (2:216352460 T>G), RS1000292510 (2:216318538 G>A), RS1000296703 (2:216338827 C>T), RS1000305635 (2:216361107 T>C), RS1000328191 (2:216295982 C>T), RS1000468010 (2:216284268 C>T)

Disease associations

OMIM: gene MIM:608208 | disease phenotypes:

GenCC curated gene-disease

Mondo (2): primary ovarian failure (MONDO:0005387), frontotemporal dementia (MONDO:0017276)

Orphanet (2): Frontotemporal dementia (Orphanet:282), NON RARE IN EUROPE: Primary ovarian failure (Orphanet:619)

HPO phenotypes

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

GWAS associations

7 associations (top):

Study	Trait	p-value
GCST001563_7	Migraine	1.000000e-06
GCST010698_88	Subcortical volume (min-P)	1.000000e-18
GCST010699_97	Brain morphology (min-P)	5.000000e-12
GCST010700_52	Cortical thickness (MOSTest)	4.000000e-10
GCST010701_122	Cortical surface area (MOSTest)	7.000000e-11
GCST010702_157	Subcortical volume (MOSTest)	4.000000e-24
GCST010703_234	Brain morphology (MOSTest)	2.000000e-12

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004346	neuroimaging measurement
EFO:0004840	cortical thickness

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D057180	Frontotemporal Dementia	C10.228.140.380.266.299; C10.574.950.300.299; C18.452.845.800.300.299; F03.615.400.380.299
D016649	Primary Ovarian Insufficiency	C12.050.351.500.056.630.750; C12.100.250.056.630.750; C19.391.630.750

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases expression, affects cotreatment	3
Air Pollutants	increases expression, increases abundance	2
Valproic Acid	increases expression	2
Aflatoxin B1	decreases methylation, increases methylation	2
aristolochic acid I	increases expression	1
Esketamine	decreases expression	1
sotorasib	affects cotreatment, decreases expression	1
propionaldehyde	increases expression	1
trichostatin A	increases expression	1
butyraldehyde	increases expression	1
pentanal	increases expression	1
CGP 52608	affects binding, increases reaction	1
2-palmitoylglycerol	increases expression	1
abrine	increases expression	1
ormosil	increases expression, affects binding	1
jinfukang	affects cotreatment, decreases expression	1
trametinib	affects cotreatment, decreases expression	1
(+)-JQ1 compound	decreases expression	1
NVP-BKM120	decreases expression, affects cotreatment	1
Resveratrol	affects cotreatment, decreases expression	1
Arsenic Trioxide	increases expression	1
Aldehydes	increases expression	1
Benzo(a)pyrene	increases methylation	1
Cisplatin	affects cotreatment, decreases expression	1
Dexamethasone	affects cotreatment, decreases expression	1
Diethylhexyl Phthalate	increases expression	1
Dust	increases abundance, increases expression	1
Estradiol	affects cotreatment, increases expression	1
Formaldehyde	decreases expression	1
Indomethacin	affects cotreatment, decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00417066	PHASE4	COMPLETED	Flexible GnRH Antagonist vs Flare up GnRH Agonist Protocol in Poor Responders
NCT00732693	PHASE4	COMPLETED	Evaluation of Physiologic and Standard Sex Steroid Replacement Regimens in Women With Premature Ovarian Failure
NCT00837616	PHASE4	COMPLETED	Estrogen Dosing in Turner Syndrome: Pharmacology and Metabolism
NCT01853501	PHASE4	UNKNOWN	Effects of ADSC Therapy in Women With POF
NCT02783937	PHASE4	COMPLETED	Filgrastim for Premature Ovarian Insufficiency
NCT03535480	PHASE4	UNKNOWN	Autologous Bone Marrow Stem Cell Ovarian Transplantation to Restore Ovarian Function in Premature Ovarian Failure
NCT00376051	PHASE4	COMPLETED	Serotonergic Function and Behavioural and Psychological Symptoms of Frontotemporal Dementia
NCT00950430	PHASE4	ENROLLING_BY_INVITATION	Imaging of Brain Amyloid Plaques in the Aging Population
NCT06093126	PHASE4	RECRUITING	Lemborexant for Insomnia in a Patient With Dementia: An N-of-1 Trial
NCT00140998	PHASE3	COMPLETED	Estrogen Treatment (Oral vs. Patches) in Turner Syndrome
NCT00594737	PHASE3	COMPLETED	Open Label Pilot Study of the Effects of Memantine on FDG-PET in Frontotemporal Dementia
NCT03682185	PHASE3	COMPLETED	The Healthy Patterns Sleep Study
NCT04374136	PHASE3	TERMINATED	A Phase 3 Study to Evaluate Efficacy and Safety of AL001 in Frontotemporal Dementia (INFRONT-3)
NCT00001951	PHASE2	COMPLETED	Hormone Replacement in Young Women With Premature Ovarian Failure
NCT00370019	PHASE2	WITHDRAWN	Effects of an Estrogen Replacement Therapy Skin Patch on Ovulation in Women With Premature Ovarian Failure
NCT00429494	PHASE2	COMPLETED	GnRH Analogue for Ovarian Function Preservation in Hematopoietic Stem Cell Transplantation Patients
NCT03816852	PHASE2	SUSPENDED	The Safety and Efficiency Study of Mesenchymal Stem Cell (19#iSCLife®-POI) in Premature Ovarian Insufficiency
NCT04536467	PHASE2	UNKNOWN	Prevention of Chemotherapy-Induced Ovarian Failure With Goserelin in Premenopausal Lymphoma Patients
NCT06117982	PHASE2	COMPLETED	The Impact of Granulocyte Colony Stimulating Factor on Premature Ovarian Insufficiency
NCT00416169	PHASE2	COMPLETED	A Pilot Study to Explore the Safety and Tolerability of Galantamine HBr in the Treatment of Pick Complex/Frontotemporal Dementia
NCT01890343	PHASE2	COMPLETED	Imaging Characteristics of Florbetapir 18F in Patients With Frontotemporal Dementia, Alzheimer’s Disease and Normal Controls.
NCT01937013	PHASE2	COMPLETED	Impact of Emotional Mimicry and Oxytocin on Frontotemporal Dementia
NCT02676843	PHASE2	COMPLETED	Tau PET Imaging With 18F-AV-1451 in Subjects With MAPT Mutations
NCT02862210	PHASE2	COMPLETED	Low-Dose Lithium for the Treatment of Behavioral Symptoms in Frontotemporal Dementia
NCT03260920	PHASE2	UNKNOWN	Intranasal Oxytocin for Frontotemporal Dementia
NCT03987295	PHASE2	COMPLETED	A Phase 2 Study to Evaluate Safety of Long-term AL001 Dosing in Frontotemporal Dementia (FTD) Patients (INFRONT-2)
NCT04220021	PHASE2	ACTIVE_NOT_RECRUITING	Safety and Therapeutic Potential of the FDA-approved Drug Metformin for C9orf72 ALS/FTD
NCT04489017	PHASE2	COMPLETED	Palmitoylethanolamide Combined With Luteoline in Frontotemporal Dementia Patients. A Randomized Controlled Trial
NCT04937452	PHASE2	COMPLETED	Dopaminergic Therapy for Frontotemporal Dementia Patients
NCT04993755	PHASE2	COMPLETED	A Phase 2a Study of TPN-101 in Patients With C9ORF72 ALS/FTD
NCT05742698	PHASE2	RECRUITING	Nabilone for Agitation in Frontotemporal Dementia
NCT06604520	PHASE2	RECRUITING	Vortioxetine for the Treatment of Mood and Cognitive Symptoms in Frontotemporal Dementia
NCT07154485	PHASE2	NOT_YET_RECRUITING	Investigator Initiated Study for the Safety and Efficacy in Frontotemporal Dementia
NCT02912104	PHASE1	COMPLETED	A Therapeutic Trial of Human Amniotic Epithelial Cells Transplantation for Primary Ovarian Failure
NCT03178695	PHASE1	COMPLETED	Inovium Ovarian Rejuvenation Trials
NCT04815213	PHASE1	ACTIVE_NOT_RECRUITING	The Use of Expandeded Mesenchymal Stromal Cells (MSC) in Premature Ovarian Failure (POF) in Adult Humans
NCT05138367	PHASE1	COMPLETED	Effects of UCA-PSCs in Women With POF
NCT06132542	PHASE1	UNKNOWN	Autologous ADMSC Transplantation in Patients With POI
NCT01386333	PHASE1	COMPLETED	Safety Study of Intranasal Oxytocin in Frontotemporal Dementia
NCT03040713	PHASE1	COMPLETED	Flortaucipir PET Imaging in Subjects With FTD