MAP2

Summary

MAP2 (microtubule associated protein 2, HGNC:6839) is a protein-coding gene on chromosome 2q34, encoding Microtubule-associated protein 2 (P11137). The exact function of MAP2 is unknown but MAPs may stabilize the microtubules against depolymerization.

This gene encodes a protein that belongs to the microtubule-associated protein family. The proteins of this family are thought to be involved in microtubule assembly, which is an essential step in neurogenesis. The products of similar genes in rat and mouse are neuron-specific cytoskeletal proteins that are enriched in dentrites, implicating a role in determining and stabilizing dentritic shape during neuron development. A number of alternatively spliced variants encoding distinct isoforms have been described.

Source: NCBI Gene 4133 — RefSeq curated summary.

At a glance

• GWAS associations: 18
• Clinical variants (ClinVar): 263 total — 1 pathogenic
• Druggable target: yes
• MANE Select transcript: NM_001375505

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:6839
Approved symbol	MAP2
Name	microtubule associated protein 2
Location	2q34
Locus type	gene with protein product
Status	Approved
Aliases	MAP2A, MAP2B, MAP2C
Ensembl gene	ENSG00000078018
Ensembl biotype	protein_coding
OMIM	157130
Entrez	4133

Gene structure

Transcript identifiers

Ensembl transcripts: 51 — 43 protein_coding, 6 protein_coding_CDS_not_defined, 2 retained_intron

ENST00000199940, ENST00000360351, ENST00000361559, ENST00000392193, ENST00000392194, ENST00000445941, ENST00000447185, ENST00000452717, ENST00000461253, ENST00000464007, ENST00000471619, ENST00000473543, ENST00000475600, ENST00000478233, ENST00000481649, ENST00000482864, ENST00000673860, ENST00000682079, ENST00000704357, ENST00000907243, ENST00000907244, ENST00000907245, ENST00000907246, ENST00000907247, ENST00000907248, ENST00000907249, ENST00000907250, ENST00000907251, ENST00000907252, ENST00000907253, ENST00000907254, ENST00000907255, ENST00000907256, ENST00000907257, ENST00000907258, ENST00000907259, ENST00000907260, ENST00000938182, ENST00000938183, ENST00000938184, ENST00000938185, ENST00000938186, ENST00000958261, ENST00000958262, ENST00000958263, ENST00000958264, ENST00000958265, ENST00000958266, ENST00000958267, ENST00000958268, ENST00000958269

RefSeq mRNA: 58 — MANE Select: NM_001375505 NM_001039538, NM_001363910, NM_001363911, NM_001363913, NM_001375474, NM_001375493, NM_001375494, NM_001375495, NM_001375496, NM_001375497, NM_001375498, NM_001375499, NM_001375500, NM_001375501, NM_001375502, NM_001375503, NM_001375504, NM_001375505, NM_001375506, NM_001375507, NM_001375508, NM_001375509, NM_001375510, NM_001375526, NM_001375527, NM_001375528, NM_001375529, NM_001375530, NM_001375531, NM_001375532, NM_001375533, NM_001375534, NM_001375535, NM_001375536, NM_001375537, NM_001375538, NM_001375539, NM_001375540, NM_001375541, NM_001375542, NM_001375543, NM_001375544, NM_001375545, NM_001375546, NM_001375548, NM_001375551, NM_001375552, NM_001375553, NM_001375554, NM_001375555, NM_001375556, NM_001375557, NM_001375558, NM_001375559, NM_001375583, NM_002374, NM_031845, NM_031847

CCDS: CCDS2384, CCDS2385, CCDS33369, CCDS86916

Canonical transcript exons

ENST00000682079 — 16 exons

Exon	Start	End
ENSE00000934702	209653142	209653432
ENSE00001002769	209580036	209580100
ENSE00001002771	209625053	209625129
ENSE00001173452	209696917	209697051
ENSE00001173465	209692625	209696350
ENSE00001426753	209507592	209507641
ENSE00002269717	209729850	209729962
ENSE00003488583	209705580	209705727
ENSE00003502144	209678572	209678685
ENSE00003510474	209680750	209680827
ENSE00003550656	209700277	209700338
ENSE00003566567	209709914	209710254
ENSE00003569157	209725709	209725790
ENSE00003671028	209696542	209696748
ENSE00003919847	209730182	209734112
ENSE00003921376	209424047	209424276

Expression profiles

Bgee: expression breadth ubiquitous, 267 present calls, max score 99.83.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 76.5007 / max 8023.6704, expressed in 1255 samples.

FANTOM5 promoters (41 alternative TSS)

Promoter ID	TPM avg	Samples expressed
24931	31.9138	1215
24944	18.9604	266
24937	4.9049	202
24945	4.7034	203
24955	3.0460	220
24939	2.4010	243
24943	1.6624	144
24930	1.2417	281
24956	1.2047	167
24947	0.8379	132

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
Brodmann (1909) area 23	UBERON:0013554	99.83	gold quality
endothelial cell	CL:0000115	99.82	gold quality
superior vestibular nucleus	UBERON:0007227	99.81	gold quality
pons	UBERON:0000988	99.77	gold quality
substantia nigra pars compacta	UBERON:0001965	99.77	gold quality
entorhinal cortex	UBERON:0002728	99.77	gold quality
parietal lobe	UBERON:0001872	99.75	gold quality
postcentral gyrus	UBERON:0002581	99.72	gold quality
middle temporal gyrus	UBERON:0002771	99.71	gold quality
substantia nigra pars reticulata	UBERON:0001966	99.69	gold quality
lateral nuclear group of thalamus	UBERON:0002736	99.61	gold quality
cortical plate	UBERON:0005343	99.60	gold quality
lateral globus pallidus	UBERON:0002476	99.53	gold quality
ganglionic eminence	UBERON:0004023	99.52	gold quality
ventral tegmental area	UBERON:0002691	99.47	gold quality
ventricular zone	UBERON:0003053	99.22	gold quality
superior frontal gyrus	UBERON:0002661	99.08	gold quality
primary visual cortex	UBERON:0002436	98.75	gold quality
temporal lobe	UBERON:0001871	98.72	gold quality
nucleus accumbens	UBERON:0001882	98.54	gold quality
occipital lobe	UBERON:0002021	98.48	gold quality
right frontal lobe	UBERON:0002810	98.47	gold quality
prefrontal cortex	UBERON:0000451	98.09	gold quality
amygdala	UBERON:0001876	98.08	gold quality
anterior cingulate cortex	UBERON:0009835	98.01	gold quality
cingulate cortex	UBERON:0003027	97.97	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	97.81	gold quality
neocortex	UBERON:0001950	97.60	gold quality
cerebral cortex	UBERON:0000956	97.57	gold quality
telencephalon	UBERON:0001893	97.55	gold quality

Single-cell (SCXA)

Detected in 9 experiment(s), a significant marker in 6.

Experiment	Marker?	Max mean expression
E-HCAD-56	yes	1665.21
E-HCAD-35	yes	64.43
E-GEOD-137537	yes	15.51
E-HCAD-25	yes	9.30
E-GEOD-81547	yes	6.98
E-GEOD-93593	no	2997.70
E-GEOD-75140	no	1970.78
E-MTAB-7303	no	853.79
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CHD8, FOSB, HES1, HOXA1, MECOM, NEUROD1, NR2F1, PAX1, TP53, TXK, ZBTB18

miRNA regulators (miRDB)

292 targeting MAP2, 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-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-3163	100.00	77.23	8605
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-518D-5P	100.00	67.51	979
HSA-MIR-518E-5P	100.00	67.66	954
HSA-MIR-518F-5P	100.00	67.51	979
HSA-MIR-519A-5P	100.00	67.66	954
HSA-MIR-519B-5P	100.00	67.66	954
HSA-MIR-519C-5P	100.00	67.66	954
HSA-MIR-520C-5P	100.00	67.51	979
HSA-MIR-522-5P	100.00	67.66	954
HSA-MIR-523-5P	100.00	67.66	954
HSA-MIR-526A-5P	100.00	67.51	979
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-5692B	100.00	71.32	2622

Literature-anchored findings (GeneRIF, showing 40)

• MAP2 expression in astrocytomas is due predominantly to low molecular weight isoforms, evident in astrocytes as well as neurons; focal expression of hmw-MAP2 suggests that neuronal antigens may be expressed, particularly in high grade astrocytomas. (PMID:11922706)
• role of small cluster of charged residues in controlling filament morphology (PMID:12023276)
• beta-chains of tubulin and MAP-2 are expressed functionally in SCLC cell lines in association with the development of dendrite-like processes on PC-9 / ECM substrate (PMID:12079519)
• These results provide strong evidence suggesting that MAP2c and tau stabilize microtubules by binding along individual protofilaments, possibly by bridging the tubulin interfaces. (PMID:12082079)
• Immunoreactivity of MAP-2 has been demonstrated in most neuroendocrine and neuroectodermal related neoplasms such as small cell carcinoma, large cell neuroendocrine carcinoma, carcinoid tumor of the lung. (PMID:12605092)
• binding of dehydroepiandrosterone to MAP2C involves specific hydrogen bonds that orient the steroid into the pocket (PMID:12775713)
• The differential distribution of various epitopes suggests that the presence of the Phospho-Ser(262) epitope of tau either accelerates the transition form pre-tangle to tangle, or appears later than the other epitopes in the process of tangle formation. (PMID:12927759)
• over-expression of microtubule-associated protein 2 is associated with oral squamous cell carcinoma (PMID:14604896)
• These data point towards MAP2 as valuable diagnostic tool for pattern recognition and differential diagnosis of low-grade neuroepithelial tumors. (PMID:15146346)
• Decreased spinophilin but unchanged MAP2 expression provides molecular evidence for a hippocampal dendritic pathology in schizophrenia that preferentially affects the spines (PMID:15465982)
• determined that Fyn phosphorylated MAP-2c on tyrosine 67 (PMID:15536091)
• MAP2 is involved in the association of endoplasmic reticulum membranes with microtubules. (PMID:15623521)
• Independent of one another MAP-2c and Fyn are able to induce process outgrowth and in concert can initiate and enhance process outgrowth in an additive manner. (PMID:16145685)
• MAP-2 is expressed in the cytoplasm of non-tumorous adenohypophysial cells as well as of various pituitary adenoma types. (PMID:16195780)
• Tat action on MAP2 stability involved Tat-mediated translocation of the proteasome to the site of microtubule filaments. (PMID:16611822)
• Notch signaling, which is implicated in melanoma progression, and Hairy and Enhancer of Split (HES1) play a role in MAP2 gene regulation during melanoma progression. (PMID:16916793)
• An analysis was made of the weak interactions of ADP-Unc104 and ADP-kinesin with microtubules and their inhibition by MAP2. (PMID:17326138)
• Thus, our findings have not only identified a novel role of MAP2 in non-neuronal cells, but also provided the first implication of MAP2 in malignant oral cancer tissues. (PMID:18073143)
• Data show that the Sudden infant death syndrome group and hypoxic/ischemic group exhibites a general reduction in the number of MAP2 reactive neurons in comparison with the non-hypoxic/ischemic injury group. (PMID:19009302)
• Using shotgun mass spectrometry, we found this protein differentially expressed in the dorsolateral prefrontal cortex from patients with schizophrenia. (PMID:19165527)
• MAP-2 immunoexpression in gliomatosis cerebri (PMID:19309409)
• In contrast with the findings of previous studies, our data indicate that MAP-2 is a moderately positive predictor of the progression of superficial spreading melanomas. (PMID:19369632)
• MAP-2 is a sensitive and specific marker of neuroblastoma, both in the primary tumor and bone marrow biopsy settings. (PMID:19701075)
• Hyperactivation of BRAF-MEK signaling activates MAP2 expression in melanoma cells by two independent mechanisms, promoter demethylation or down-regulation of neuronal transcription repressor HES1. (PMID:19880519)
• The results of this study confirmed previous published data showing a schizophrenia-associated decrease in MAP2 in area 9 with no change in area 17 and no change in Huntington chorea. (PMID:20092829)
• Increased MAP2 expression in malignant melanoma cells significantly inhibits tumor cell growth and neoplasm invasiveness, and induces apoptosis and cell cycle arrest. (PMID:20100193)
• Data indicate that the decline of MAP2 is a common phenomenon in transmissible spongiform encephalopathies (TSEs), which seems to occur at an early stage of incubation period. (PMID:22272295)
• The protein phosphatase PP2A/Balpha binds to the microtubule-associated proteins Tau and MAP2 at a motif also recognized by the kinase Fyn. (PMID:22403409)
• Dysfunction of MAP2/tau family leads to disruption of microtubule structure and impairment of axonal transport, and eventually triggers apoptosis in neurons, which becomes an essential pathway for prion to induce the neuropathology. (PMID:22874672)
• MAP-2 and nestin participate in the regulation of the development of gastric tissues in human embryos. (PMID:22985576)
• Altered MAP2 and tau expression in mesial temporal lobe epilepsy (MTLE) and decreased tau expression in MTLE with psychosis were found. (PMID:24069608)
• MAP2 may play a significant role in neurotoxicity in the Alzheimer’s disease brain despite the absence of MAP2-aggregates. (PMID:24587039)
• Study suggests that many of the morphological changes detected in children’s brainstems regarding distributions of HIF-1alpha and MAP-2 could be due to age differences, but in some regions these distributions are more dependent on the hypoxic conditions (PMID:24780770)
• MAP 2 is a moderately sensitive marker of haemangioblastoma (PMID:24977729)
• SNCG, MAP2, SDF-1 and CXCR4 may play an important role in the carcinogenesis, progression, invasion and metastasis of gastric adenocarcinoma. (PMID:25400739)
• PP2A/striatin complex modulates microtubule dynamics by regulating MAP2 phosphorylation (PMID:25497017)
• MAP2 expression in ovarian teratomas does not appear to have a role in predictive the development of anti-NMDAR encephalitis. (PMID:25569473)
• Prolactin significantly increased the gene expression and protein levels of MAP2 in SK-N-SH neuroblastoma cells, while no significant changes were observed in U-87MG glioblastoma cells. (PMID:25629269)
• MAP2 expression is affected by actomyosin contractility during nanotopography-directed neuronal differentiation of human embryonic stem cells (PMID:25682157)
• Findings demonstrate that microtubule-associated protein 2-immunoreactivity loss is closely linked to dendritic spine pathology in schizophrenia. (PMID:25818630)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Map2	ENSMUSG00000015222
rattus_norvegicus	Map2	ENSRNOG00000011841

Paralogs (1): MAPT (ENSG00000186868)

Protein

Protein identifiers

Microtubule-associated protein 2 — P11137 (reviewed: P11137)

All UniProt accessions (6): P11137, A0A024R3Z1, A0A669KB77, A8MZ31, E7EV03, H7BZB9

UniProt curated annotations — full annotation on UniProt →

Function. The exact function of MAP2 is unknown but MAPs may stabilize the microtubules against depolymerization. They also seem to have a stiffening effect on microtubules.

Subunit / interactions. Interacts with KNDC1 (via KIND2); the interaction enhances MAP2 phosphorylation and localizes KNDC1 to dendrites. Interacts with DPYSL5.

Subcellular location. Cytoplasm. Cytoskeleton. Cell projection. Dendrite.

Post-translational modifications. Phosphorylated at serine residues in K-X-G-S motifs by MAP/microtubule affinity-regulating kinase (MARK1 or MARK2), causing detachment from microtubules, and their disassembly. Isoform 2 is probably phosphorylated by PKA at Ser-323, Ser-354 and Ser-386 and by FYN at Tyr-67. The interaction with KNDC1 enhances MAP2 threonine phosphorylation.

Isoforms (4)

UniProt ID	Names	Canonical?
P11137-1	1, MAP2b	yes
P11137-2	2, MAP2c
P11137-3	3
P11137-4	4

RefSeq proteins (58): NP_001034627, NP_001350839, NP_001350840, NP_001350842, NP_001362403, NP_001362422, NP_001362423, NP_001362424, NP_001362425, NP_001362426, NP_001362427, NP_001362428, NP_001362429, NP_001362430, NP_001362431, NP_001362432, NP_001362433, NP_001362434, NP_001362435, NP_001362436, NP_001362437, NP_001362438, NP_001362439, NP_001362455, NP_001362456, NP_001362457, NP_001362458, NP_001362459, NP_001362460, NP_001362461, NP_001362462, NP_001362463, NP_001362464, NP_001362465, NP_001362466, NP_001362467, NP_001362468, NP_001362469, NP_001362470, NP_001362471, NP_001362472, NP_001362473, NP_001362474, NP_001362475, NP_001362477, NP_001362480, NP_001362481, NP_001362482, NP_001362483, NP_001362484, NP_001362485, NP_001362486, NP_001362487, NP_001362488, NP_001362512, NP_002365, NP_114033, NP_114035 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001084	MAP_tubulin-bd_rpt	Repeat
IPR013588	MAP2_projctn	Domain
IPR027324	MAP2/MAP4/Tau	Family

Pfam: PF00418, PF08377

UniProt features (108 total): modified residue 46, compositionally biased region 23, region of interest 14, sequence conflict 8, sequence variant 8, splice variant 5, repeat 3, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P11137-F1	40.46	0.00

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 (46): 67, 323, 354, 386, 136, 140, 143, 285, 498, 601, 605, 610, 629, 725, 729, 733, 736, 738, 745, 821 …

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 0 (showing top):

GO Biological Process (12): microtubule cytoskeleton organization (GO:0000226), dendrite development (GO:0016358), central nervous system neuron development (GO:0021954), negative regulation of axon extension (GO:0030517), regulation of microtubule polymerization (GO:0031113), negative regulation of microtubule polymerization (GO:0031115), neuron projection development (GO:0031175), regulation of protein localization (GO:0032880), dendrite morphogenesis (GO:0048813), positive regulation of anterograde dense core granule transport (GO:1901953), regulation of organelle transport along microtubule (GO:1902513), positive regulation of anterograde synaptic vesicle transport (GO:1903744)

GO Molecular Function (7): dystroglycan binding (GO:0002162), structural molecule activity (GO:0005198), calmodulin binding (GO:0005516), microtubule binding (GO:0008017), tau protein binding (GO:0048156), protein binding (GO:0005515), tubulin binding (GO:0015631)

GO Cellular Component (24): cytoplasm (GO:0005737), cytosol (GO:0005829), microtubule (GO:0005874), microtubule associated complex (GO:0005875), plasma membrane (GO:0005886), cilium (GO:0005929), dendrite (GO:0030425), dendrite cytoplasm (GO:0032839), neuron projection (GO:0043005), neuronal cell body (GO:0043025), axon initial segment (GO:0043194), dendritic shaft (GO:0043198), axon hillock (GO:0043203), dendritic growth cone (GO:0044294), dendritic branch (GO:0044307), basal dendrite (GO:0097441), primary dendrite (GO:0150001), distal dendrite (GO:0150002), apical distal dendrite (GO:0150014), dendritic filopodium (GO:1902737), proximal dendrite (GO:1990635), proximal neuron projection (GO:1990769), cytoskeleton (GO:0005856), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
dendrite	7
cellular anatomical structure	5
neuron development	2
microtubule polymerization	2
positive regulation of vesicle transport along microtubule	2
protein binding	2
cytoskeletal protein binding	2
microtubule cytoskeleton	2
plasma membrane bounded cell projection	2
neuron projection	2
cytoskeleton organization	1
microtubule-based process	1
neuron projection development	1
anatomical structure development	1
central nervous system neuron differentiation	1
negative regulation of cell growth	1
regulation of axon extension	1
negative regulation of developmental growth	1
axon extension	1
negative regulation of axonogenesis	1
regulation of microtubule polymerization or depolymerization	1
regulation of protein polymerization	1
regulation of supramolecular fiber organization	1
negative regulation of microtubule polymerization or depolymerization	1
regulation of microtubule polymerization	1
negative regulation of protein polymerization	1
negative regulation of supramolecular fiber organization	1
plasma membrane bounded cell projection organization	1
intracellular protein localization	1
regulation of localization	1
dendrite development	1
cell morphogenesis involved in neuron differentiation	1
neuron projection morphogenesis	1
regulation of anterograde dense core granule transport	1
positive regulation of dense core granule transport	1
anterograde neuronal dense core vesicle transport	1
regulation of intracellular transport	1
regulation of microtubule-based movement	1
organelle transport along microtubule	1
anterograde synaptic vesicle transport	1

Protein interactions and networks

STRING

2820 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MAP2	SYP	P08247	861
MAP2	DLG4	P78352	803
MAP2	NES	P48681	801
MAP2	GFAP	P14136	794
MAP2	RBFOX3	A6NFN3	789
MAP2	MBP	P02686	774
MAP2	GAP43	P17677	771
MAP2	NEFL	P07196	747
MAP2	CHAT	P28329	730
MAP2	SYN1	P17600	729
MAP2	DCX	O43602	729
MAP2	TUBB3	Q13509	713
MAP2	BDNF	P23560	712
MAP2	ENO2	P09104	683
MAP2	VDAC1	P21796	671

IntAct

57 interactions, top by confidence:

A	B	Type	Score
NFE2L2	MAFG	psi-mi:“MI:0914”(association)	0.940
MED21	MED19	psi-mi:“MI:0914”(association)	0.880
	PRKAR1A	psi-mi:“MI:0914”(association)	0.700
MAP2	GRB2	psi-mi:“MI:0407”(direct interaction)	0.670
MAP2	GRB2	psi-mi:“MI:0915”(physical association)	0.670
GRB2	MAP2	psi-mi:“MI:0407”(direct interaction)	0.670
GRB2	MAP2	psi-mi:“MI:0914”(association)	0.670
GRB2	MAP2	psi-mi:“MI:2364”(proximity)	0.670
YWHAG	BLTP3B	psi-mi:“MI:2364”(proximity)	0.640
YWHAH	BLTP3B	psi-mi:“MI:2364”(proximity)	0.570
SYNGAP1	IGF2BP3	psi-mi:“MI:0914”(association)	0.530
NUFIP1	PDE2A	psi-mi:“MI:0914”(association)	0.530
PRKAR2B	AMY1A	psi-mi:“MI:0914”(association)	0.530
ITCH	MAP2	psi-mi:“MI:0407”(direct interaction)	0.440
MAP2	CalpB	psi-mi:“MI:0194”(cleavage reaction)	0.440
MAP2	HSD17B12	psi-mi:“MI:0915”(physical association)	0.400
CCP110	MAP2	psi-mi:“MI:0915”(physical association)	0.370
MAPT	MEX3A	psi-mi:“MI:0914”(association)	0.350
Prdm16	ESYT2	psi-mi:“MI:0914”(association)	0.350
MAPT	SHTN1	psi-mi:“MI:0914”(association)	0.350
CEP135	WDR91	psi-mi:“MI:0914”(association)	0.350
GPM6A	KIF2A	psi-mi:“MI:0914”(association)	0.350
HAX1	DNM1L	psi-mi:“MI:0914”(association)	0.350
DGUOK	BIN1	psi-mi:“MI:0914”(association)	0.350
ARMC1	DCX	psi-mi:“MI:0914”(association)	0.350

BioGRID (116): MAP2 (Affinity Capture-MS), MAP2 (Affinity Capture-MS), MAP2 (Affinity Capture-MS), MAP2 (Affinity Capture-MS), MAP2 (Affinity Capture-MS), MAP2 (Affinity Capture-MS), MAP2 (Proximity Label-MS), MAP2 (Biochemical Activity), MAP2 (Affinity Capture-MS), MAP2 (Affinity Capture-MS), MAP2 (Affinity Capture-MS), MAP2 (Affinity Capture-MS), MAP2 (Affinity Capture-MS), MAP2 (Affinity Capture-RNA), MAP2 (Biochemical Activity)

ESM2 similar proteins: A2ARZ3, A4FU69, A4IH95, A5WUN7, A6H5Y1, A7MC64, D3Z8E6, E9Q309, O75969, O95197, P11137, P15146, P20357, P86839, Q01613, Q0P5X5, Q16799, Q2M2Z5, Q2T9M9, Q498L0, Q52KN3, Q53TS8, Q5IS59, Q5MY90, Q5RHB5, Q5SW79, Q5T5Y3, Q5VT06, Q62394, Q64548, Q6A065, Q6DFV7, Q6RJR6, Q6ZQ06, Q6ZVD7, Q76I76, Q7TS75, Q8BYM7, Q8BZJ8, Q8C5W0

Diamond homologs: O02828, P10636, P10637, P11137, P15146, P19332, P20357, P27546, P27816, P29172, P36225, P57786, Q5M7W5, Q5S6V2, Q5YCV9, Q5YCW0, Q5YCW1, Q6TS35, Q9MYX8

SIGNOR signaling

15 interactions.

A	Effect	B	Mechanism
PRKACA	“down-regulates activity”	MAP2	phosphorylation
DPYSL5	“down-regulates activity”	MAP2	binding
MAP2	“up-regulates quantity by stabilization”	Microtubule_polimerization	binding
KNDC1	“up-regulates activity”	MAP2	phosphorylation
PRKACA	up-regulates	MAP2	phosphorylation
CHD8	“down-regulates quantity”	MAP2	“transcriptional regulation”
MARK1	“down-regulates activity”	MAP2	phosphorylation
estramustine	“down-regulates activity”	MAP2	“chemical inhibition”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 58 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
Activation of BAD and translocation to mitochondria	6	99.3×	4e-09
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	6	87.6×	4e-09
SARS-CoV-1 targets host intracellular signalling and regulatory pathways	6	87.6×	4e-09
Activation of BH3-only proteins	6	64.8×	2e-08
RHO GTPases activate PKNs	6	41.4×	3e-07
Intrinsic Pathway for Apoptosis	6	38.2×	3e-07
FOXO-mediated transcription	5	36.5×	5e-06
FCGR3A-mediated IL10 synthesis	5	31.8×	9e-06

GO biological processes:

GO term	Partners	Fold	FDR
intracellular protein localization	7	13.8×	2e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	205
Likely benign	23
Benign	12

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
150477	GRCh38/hg38 2q33.3-34(chr2:207058886-211245603)x1	Pathogenic

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000005188 (2:209576215 T>C), RS1000012948 (2:209475038 G>A,C), RS1000018228 (2:209510151 A>G), RS1000019962 (2:209722489 A>G), RS1000023771 (2:209446419 C>A,G,T), RS1000026924 (2:209484710 A>C), RS1000029839 (2:209675632 T>G), RS1000048194 (2:209553498 A>G), RS1000050069 (2:209621622 A>G), RS1000059755 (2:209469725 C>T), RS1000072304 (2:209596029 A>C), RS1000081284 (2:209666354 T>C), RS1000084891 (2:209568460 G>A), RS1000105674 (2:209527500 T>A), RS1000160289 (2:209704357 G>C,T)

Disease associations

OMIM: gene MIM:157130 | disease phenotypes: MIM:312750

GenCC curated gene-disease

Mondo (1): Rett syndrome (MONDO:0010726)

Orphanet (2): Atypical Rett syndrome (Orphanet:3095), Rett syndrome (Orphanet:778)

HPO phenotypes

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

GWAS associations

18 associations (top):

Study	Trait	p-value
GCST007324_101	Adventurousness	9.000000e-09
GCST007325_109	General risk tolerance (MTAG)	3.000000e-10
GCST007592_1	Handedness (Left-handed vs. non-left-handed)	4.000000e-08
GCST008103_179	Bipolar disorder	8.000000e-06
GCST008158_128	Body mass index	8.000000e-06
GCST008163_239	Height	6.000000e-07
GCST008818_3	Handedness (Left-handed vs. non-left-handed)	5.000000e-08
GCST008819_1	Handedness (left-handed vs. right-handed)	3.000000e-08
GCST010698_62	Subcortical volume (min-P)	2.000000e-09
GCST010699_39	Brain morphology (min-P)	1.000000e-08
GCST010700_2	Cortical thickness (MOSTest)	9.000000e-21
GCST010701_46	Cortical surface area (MOSTest)	3.000000e-19
GCST010702_16	Subcortical volume (MOSTest)	5.000000e-08
GCST010703_138	Brain morphology (MOSTest)	4.000000e-08
GCST011741_70	LDL cholesterol levels in HIV infection	1.000000e-05
GCST90010427_6	Left–right brain asymmetry	1.000000e-10
GCST90013411_1	Skin and soft tissue infections	2.000000e-06
GCST90013421_25	Left-handedness	2.000000e-30

EFO canonical traits (7, from GWAS)

EFO ID	Trait name
EFO:0008579	risk-taking behaviour
EFO:0009902	handedness
EFO:0004340	body mass index
EFO:0004346	neuroimaging measurement
EFO:0004840	cortical thickness
EFO:0004611	low density lipoprotein cholesterol measurement
EFO:1001489	skin and soft tissue Staphylococcus aureus infection

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D015518	Rett Syndrome	C10.597.606.360.455.937; C16.320.322.500.937; C16.320.400.525.937

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL2390810 (SINGLE PROTEIN)

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

ChEMBL bioactivities

31 potent at pChembl≥5 of 39 total, top 31 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
8.70	IC50	1.995	nM	CHEMBL4746468
8.50	IC50	3.162	nM	CHEMBL4762949
8.30	IC50	5.012	nM	CHEMBL4796852
8.20	IC50	6.31	nM	CHEMBL4743507
7.60	IC50	25.12	nM	CHEMBL4800438
7.60	IC50	25.12	nM	CHEMBL4791887
7.30	IC50	50.12	nM	CHEMBL4756420
7.20	IC50	63.1	nM	CHEMBL4751717
7.00	IC50	100	nM	CHEMBL4777059
7.00	IC50	100	nM	CHEMBL4760584
6.90	IC50	125.9	nM	CHEMBL4789033
6.60	IC50	251.2	nM	CHEMBL4752469
6.60	IC50	251.2	nM	CHEMBL4747815
6.50	IC50	316.2	nM	CHEMBL4744483
6.50	IC50	316.2	nM	CHEMBL4752192
6.40	IC50	398.1	nM	CHEMBL4791945
6.40	IC50	398.1	nM	CHEMBL4748280
6.30	IC50	501.2	nM	CHEMBL4739940
6.20	IC50	631	nM	CHEMBL4788981
6.20	IC50	631	nM	CHEMBL4763098
6.00	IC50	1000	nM	CHEMBL4791336
5.90	IC50	1259	nM	CHEMBL4764145
5.80	IC50	1585	nM	CHEMBL4751163
5.60	IC50	2512	nM	CHEMBL4754200
5.52	IC50	3000	nM	CHEMBL3586452
5.40	IC50	4000	nM	CHEMBL3586455
5.40	IC50	3981	nM	CHEMBL4747043
5.30	IC50	5000	nM	CHEMBL3586457
5.20	IC50	6310	nM	CHEMBL4740679
5.10	IC50	8000	nM	CHEMBL3586456
5.10	IC50	7943	nM	CHEMBL4792430

PubChem BioAssay actives

31 with measured affinity, of 50 total; 31 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
5,6-difluoro-3-(4-piperazin-1-yl-2-propan-2-yloxyphenyl)-1H-indole-2-carboxamide	1676454: Inhibition of MetAP2 (unknown origin)	ic50	0.0020	uM
5-chloro-6-fluoro-3-(4-piperazin-1-yl-2-propan-2-yloxyphenyl)-1H-indole-2-carboxamide	1676454: Inhibition of MetAP2 (unknown origin)	ic50	0.0032	uM
5-chloro-6-fluoro-3-(2-propan-2-yloxyphenyl)-1H-indole-2-carboxamide	1676454: Inhibition of MetAP2 (unknown origin)	ic50	0.0050	uM
5-chloro-6-fluoro-3-(2-methoxyphenyl)-1H-indole-2-carboxamide	1676454: Inhibition of MetAP2 (unknown origin)	ic50	0.0063	uM
5-chloro-3-[4-(4-methylpiperazin-1-yl)phenyl]-1H-indole-2-carboxamide	1676454: Inhibition of MetAP2 (unknown origin)	ic50	0.0251	uM
5-chloro-3-(2-propan-2-yloxyphenyl)-1H-indole-2-carboxamide	1676454: Inhibition of MetAP2 (unknown origin)	ic50	0.0251	uM
5-chloro-3-(4-morpholin-4-ylphenyl)-1H-indole-2-carboxamide	1676454: Inhibition of MetAP2 (unknown origin)	ic50	0.0501	uM
5-chloro-6-fluoro-3-phenyl-1H-indole-2-carboxamide	1676454: Inhibition of MetAP2 (unknown origin)	ic50	0.0631	uM
5-chloro-3-(2-methoxyphenyl)-1H-indole-2-carboxamide	1676454: Inhibition of MetAP2 (unknown origin)	ic50	0.1000	uM
5-chloro-3-[4-(dimethylamino)phenyl]-1H-indole-2-carboxamide	1676454: Inhibition of MetAP2 (unknown origin)	ic50	0.1000	uM
5-chloro-3-(4-methoxyphenyl)-1H-indole-2-carboxamide	1676454: Inhibition of MetAP2 (unknown origin)	ic50	0.1259	uM
5-chloro-3-[4-(1H-pyrazol-5-yl)phenyl]-1H-indole-2-carboxamide	1676454: Inhibition of MetAP2 (unknown origin)	ic50	0.2512	uM
5-chloro-3-[4-(pyrrolidine-1-carbonyl)phenyl]-1H-indole-2-carboxamide	1676454: Inhibition of MetAP2 (unknown origin)	ic50	0.2512	uM
5-chloro-3-(2-methylphenyl)-1H-indole-2-carboxamide	1676454: Inhibition of MetAP2 (unknown origin)	ic50	0.3162	uM
5-chloro-3-phenyl-1H-indole-2-carboxamide	1676454: Inhibition of MetAP2 (unknown origin)	ic50	0.3162	uM
5-chloro-3-(4-chlorophenyl)-1H-indole-2-carboxamide	1676454: Inhibition of MetAP2 (unknown origin)	ic50	0.3981	uM
5-chloro-3-[2-(trifluoromethoxy)phenyl]-1H-indole-2-carboxamide	1676454: Inhibition of MetAP2 (unknown origin)	ic50	0.3981	uM
5-chloro-3-(4-cyanophenyl)-1H-indole-2-carboxamide	1676454: Inhibition of MetAP2 (unknown origin)	ic50	0.5012	uM
5-chloro-7-fluoro-3-phenyl-1H-indole-2-carboxamide	1676454: Inhibition of MetAP2 (unknown origin)	ic50	0.6310	uM
5-fluoro-3-phenyl-1H-indole-2-carboxamide	1676454: Inhibition of MetAP2 (unknown origin)	ic50	0.6310	uM
5-chloro-3-[4-[(dimethylamino)methyl]phenyl]-1H-indole-2-carboxamide	1676454: Inhibition of MetAP2 (unknown origin)	ic50	1.0000	uM
5-chloro-3-phenyl-1H-pyrrolo[2,3-b]pyridine-2-carboxamide	1676454: Inhibition of MetAP2 (unknown origin)	ic50	1.2589	uM
1-(5-chloro-3-phenyl-1H-indol-2-yl)ethanone	1676454: Inhibition of MetAP2 (unknown origin)	ic50	1.5849	uM
3-phenyl-1H-indole-2-carboxamide	1676454: Inhibition of MetAP2 (unknown origin)	ic50	2.5119	uM
7-(2-methylphenyl)-5-(2,2,2-trifluoroethyl)-1H-pyrazolo[4,5-c][1,5]naphthyridin-4-one	1230704: Inhibition of human METAP2 using Met-Pro-Arg-pNa substrate by para-nitroanilide chromophore release detection assay	ic50	3.0000	uM
5-chloro-4-fluoro-3-phenyl-1H-indole-2-carboxamide	1676454: Inhibition of MetAP2 (unknown origin)	ic50	3.9811	uM
N-methyl-2-[4-oxo-5-(2,2,2-trifluoroethyl)-1H-pyrazolo[4,5-c][1,5]naphthyridin-7-yl]benzenesulfonamide	1230704: Inhibition of human METAP2 using Met-Pro-Arg-pNa substrate by para-nitroanilide chromophore release detection assay	ic50	4.0000	uM
7-[6-(4-methylpiperazin-1-yl)-3-pyridinyl]-5-(2,2,2-trifluoroethyl)-1H-pyrazolo[4,5-c][1,5]naphthyridin-4-one	1230704: Inhibition of human METAP2 using Met-Pro-Arg-pNa substrate by para-nitroanilide chromophore release detection assay	ic50	5.0000	uM
3-phenyl-1H-pyrrolo[2,3-c]pyridine-2-carboxamide	1676454: Inhibition of MetAP2 (unknown origin)	ic50	6.3096	uM
7-chloro-3-phenyl-1H-indole-2-carboxamide	1676454: Inhibition of MetAP2 (unknown origin)	ic50	7.9433	uM
N-[2-[4-oxo-5-(2,2,2-trifluoroethyl)-1H-pyrazolo[4,5-c][1,5]naphthyridin-7-yl]phenyl]methanesulfonamide	1230704: Inhibition of human METAP2 using Met-Pro-Arg-pNa substrate by para-nitroanilide chromophore release detection assay	ic50	8.0000	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, affects cotreatment, increases expression, increases reaction, decreases expression	10
Tretinoin	increases reaction, affects cotreatment, decreases expression, affects expression, affects reaction (+1 more)	9
sodium arsenite	decreases expression, increases abundance, increases expression	6
bisphenol A	decreases expression, increases methylation	5
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression, increases reaction, decreases reaction	4
(+)-JQ1 compound	decreases expression, increases expression	4
LDN 193189	affects cotreatment, increases expression, increases reaction, decreases reaction	3
Arsenic	increases expression, affects methylation, decreases expression, increases abundance	3
methylmercuric chloride	decreases expression, increases expression	2
trichostatin A	affects expression, increases expression	2
monomethylarsonous acid	increases expression	2
Alitretinoin	decreases expression, increases expression	2
Panobinostat	affects cotreatment, increases expression	2
Doxorubicin	decreases expression, increases expression	2
Phenylmercuric Acetate	increases expression, affects cotreatment	2
Progesterone	decreases expression, increases expression	2
Rotenone	decreases reaction, increases expression, decreases expression, affects cotreatment	2
Aflatoxin B1	decreases methylation, decreases expression	2
aristolochic acid I	decreases expression	1
6,7-dimethoxy-2-(pyrrolidin-1-yl)-N-(5-(pyrrolidin-1-yl)pentyl)quinazolin-4-amine	increases expression	1
FR900359	affects phosphorylation	1
aminomethylphosphonic acid (AMPA)	decreases expression	1
THJ-018	affects expression	1
lead acetate	increases expression, decreases reaction	1
2,4,5,2’,4’,5’-hexachlorobiphenyl	increases expression	1
sulforaphane	increases expression	1
bis(2,3,3,3-tetrachloropropyl) ether	increases expression, affects cotreatment	1
butyraldehyde	decreases expression	1
16 alpha-ethyl-21-hydroxy-19-nor-4-pregnene-3,20-dione	increases expression	1
nickel chloride	increases expression, increases reaction	1

ChEMBL screening assays

3 unique, capped per target: 3 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL3586886	Binding	Inhibition of human METAP2 using Met-Pro-Arg-pNa substrate by para-nitroanilide chromophore release detection assay	Pyridinonaphthyridinone Inhibitors of Type 2 Methionine Aminopeptidase. — ACS Med Chem Lett

Cellosaurus cell lines

3 cell lines: 3 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_D1TI	Abcam U-87MG MAP2 KO	Cancer cell line	Male
CVCL_SW35	HAP1 MAP2 (-) 1	Cancer cell line	Male
CVCL_SW36	HAP1 MAP2 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00069550	PHASE3	UNKNOWN	Independent Studies of Dextromethorphan and of Donepezil Hydrochloride for Rett Syndrome
NCT00261508	PHASE3	COMPLETED	A Study of the Effectiveness and Safety of Risperidone Versus Placebo in the Treatment of Children With Autistic Disorder and Other Pervasive Developmental Disorders (PDD)
NCT03848832	PHASE3	TERMINATED	Efficacy and Safety of Cannabidiol Oral Solution (GWP42003-P, CBD-OS) in Patients With Rett Syndrome
NCT03941444	PHASE3	COMPLETED	ANAVEX2-73 Study in Patients With Rett Syndrome
NCT04181723	PHASE3	COMPLETED	Study of Trofinetide for the Treatment of Girls and Women With Rett Syndrome (LAVENDER™)
NCT04252586	PHASE3	TERMINATED	A Long-term Safety Study of Cannabidiol Oral Solution (GWP42003-P, CBD-OS) in Patients With Rett Syndrome
NCT04279314	PHASE3	COMPLETED	Open-Label Extension Study of Trofinetide for the Treatment of Girls and Women With Rett Syndrome
NCT04776746	PHASE3	TERMINATED	Open-Label Extension Study of Trofinetide for Rett Syndrome
NCT05606614	PHASE3	RECRUITING	A Phase 1/2/3 Study of TSHA-102 Gene Therapy in Females With Rett Syndrome (REVEAL Pivotal Study)
NCT05898620	PHASE3	RECRUITING	A Novel, Regulated Gene Therapy (NGN-401) Study for Females With Rett Syndrome
NCT06840496	PHASE3	RECRUITING	To Investigate the Efficacy of Treatment With Oral NA-921 (Bionetide) Versus Placebo in Females With Rett Syndrome
NCT07480564	PHASE3	RECRUITING	Safety and Preliminary Efficacy of TSHA-102 Gene Therapy in Pediatric Females Aged >2 to <4 Years With Rett Syndrome
NCT07503444	PHASE3	NOT_YET_RECRUITING	A Phase 3 Study of Fenfluramine Hydrochloride in Rett Syndrome
NCT00593957	PHASE2	TERMINATED	Trial of Dextromethorphan in Rett Syndrome
NCT00990691	PHASE2	COMPLETED	Pilot Study of the Effects of the Desipramine on the Neurovegetative Parameters of the Child With Rett Syndrome
NCT01520363	PHASE2	COMPLETED	Placebo Controlled Trial of Dextromethorphan in Rett Syndrome
NCT01703533	PHASE2	COMPLETED	A Safety Study of NNZ-2566 in Patients With Rett Syndrome
NCT01777542	PHASE2	COMPLETED	Treatment of Rett Syndrome With Recombinant Human IGF-1
NCT01822249	PHASE2	COMPLETED	Phase 2 Study of EPI-743 for Treatment of Rett Syndrome
NCT02153723	PHASE2	COMPLETED	Pharmacological Treatment of Rett Syndrome With Glatiramer Acetate (Copaxone)
NCT02563860	PHASE2	COMPLETED	Pharmacological Treatment of Rett Syndrome With Statins
NCT02696044	PHASE2	UNKNOWN	Treatment of Mitochondrial Dysfunction in Rett Syndrome With Triheptanoin
NCT02715115	PHASE2	COMPLETED	A Safety Study of NNZ-2566 in Pediatric Rett Syndrome
NCT03059160	PHASE2	UNKNOWN	Open Label Trial of Triheptanoin (UX007) in Treatment of Rett Syndrome.
NCT03633058	PHASE2	COMPLETED	A Study to Evaluate Ketamine for the Treatment of Rett Syndrome
NCT03758924	PHASE2	COMPLETED	Study of ANAVEX2-73 in Patients With Rett Syndrome
NCT04041713	PHASE2	NOT_YET_RECRUITING	A Pilot Study of an Antioxidant Cocktail vs. Placebo in the Treatment of Children and Adolescents With Rett Syndrome
NCT05625568	PHASE2	UNKNOWN	Study of VYNT-0126 in the Treatment of Rett Syndrome in Adult Patients
NCT01253317	PHASE1	COMPLETED	Treatment of Rett Syndrome With rhIGF-1 (Mecasermin [rDNA]Injection)
NCT02023424	PHASE1	UNKNOWN	An Open Label, Exploratory Study to Investigate the Treatment Effect of Glatiramer Acetate on Girls Woth Rett Syndrome
NCT02562820	PHASE1	TERMINATED	An Exploratory Trial of Ketamine for the Treatment of Rett Syndrome
NCT07150013	PHASE1	RECRUITING	Rett REVOLUTION Trial: An Exploratory Evaluation of the Safety and Efficacy of Vorinostat in Rett Syndrome
NCT02790034	PHASE2/PHASE3	TERMINATED	Evaluation of the Efficacy, Safety, and Tolerability of Sarizotan in Rett Syndrome With Respiratory Symptoms
NCT04304482	PHASE2/PHASE3	COMPLETED	ANAVEX2-73 Study in Pediatric Patients With Rett Syndrome
NCT04988867	PHASE2/PHASE3	TERMINATED	An Open-Label Study of Trofinetide for the Treatment of Girls Two to Five Years of Age Who Have Rett Syndrome
NCT06849973	PHASE2/PHASE3	COMPLETED	To Study the Efficacy & Safety of Oral NA-921 (Bionetide) in Girls and Women with Rett Syndrome
NCT07257978	PHASE2/PHASE3	NOT_YET_RECRUITING	Efficacy and Safety of NTI164 in Children and Young Adults With Rett Syndrome
NCT06152237	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Safety and Efficacy of TSHA-102 in Pediatric Females With Rett Syndrome (REVEAL Pediatric Study)
NCT06621043	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Assessing the Safety and Efficacy of Full-Spectrum Medicinal Cannabis Plant Extract 0.08% THC (NTI164) in the Treatment of Rett Syndrome (RTT)
NCT06199700	EARLY_PHASE1	COMPLETED	Esketamine for the Treatment of Rett Syndrome