PMP2

Summary

PMP2 (peripheral myelin protein 2, HGNC:9117) is a protein-coding gene on chromosome 8q21.13, encoding Myelin P2 protein (P02689). May play a role in lipid transport protein in Schwann cells.

The protein encoded by this gene localizes to myelin sheaths of the peripheral nervous system. The encoded protein can bind both the membrane layers of the sheaths and monomeric lipids, and is thought to provide stability to the sheath. A defect in this gene was shown to be a cause of dominant demyelinating CMT neuropathy.

Source: NCBI Gene 5375 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Charcot-Marie-Tooth disease, demyelinating, type 1G (Strong, GenCC) — +1 more curated relationship
• GWAS associations: 3
• Clinical variants (ClinVar): 137 total — 1 pathogenic, 2 likely-pathogenic
• Phenotypes (HPO): 23
• Druggable target: yes
• MANE Select transcript: NM_002677

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:9117
Approved symbol	PMP2
Name	peripheral myelin protein 2
Location	8q21.13
Locus type	gene with protein product
Status	Approved
Aliases	MP2, FABP8, M-FABP
Ensembl gene	ENSG00000147588
Ensembl biotype	protein_coding
OMIM	170715
Entrez	5375

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000256103, ENST00000519260, ENST00000910617

RefSeq mRNA: 2 — MANE Select: NM_002677 NM_001348381, NM_002677

CCDS: CCDS6229, CCDS87617

Canonical transcript exons

ENST00000256103 — 4 exons

Exon	Start	End
ENSE00000795004	81444817	81444989
ENSE00001385195	81440326	81443448
ENSE00002132278	81447314	81447439
ENSE00003511804	81444500	81444601

Expression profiles

Bgee: expression breadth ubiquitous, 209 present calls, max score 99.91.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 21.0846 / max 4377.8524, expressed in 155 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
93751	20.4379	153
93746	0.2211	41
93747	0.1815	39
93744	0.1640	30
93745	0.0802	13

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
olfactory bulb	UBERON:0002264	99.91	gold quality
superior vestibular nucleus	UBERON:0007227	99.81	gold quality
trigeminal ganglion	UBERON:0001675	99.78	gold quality
inferior vagus X ganglion	UBERON:0005363	99.76	gold quality
ventral tegmental area	UBERON:0002691	99.73	gold quality
subthalamic nucleus	UBERON:0001906	99.72	gold quality
medulla oblongata	UBERON:0001896	99.71	gold quality
lateral globus pallidus	UBERON:0002476	99.63	gold quality
substantia nigra pars reticulata	UBERON:0001966	99.58	gold quality
substantia nigra pars compacta	UBERON:0001965	99.57	gold quality
globus pallidus	UBERON:0001875	99.54	gold quality
medial globus pallidus	UBERON:0002477	99.51	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	99.39	gold quality
lateral nuclear group of thalamus	UBERON:0002736	99.34	gold quality
pons	UBERON:0000988	99.26	gold quality
cranial nerve II	UBERON:0000941	99.18	gold quality
inferior olivary complex	UBERON:0002127	99.17	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	99.01	gold quality
hypothalamus	UBERON:0001898	98.84	gold quality
spinal cord	UBERON:0002240	98.83	gold quality
midbrain	UBERON:0001891	98.70	gold quality
amygdala	UBERON:0001876	98.63	gold quality
substantia nigra	UBERON:0002038	98.61	gold quality
putamen	UBERON:0001874	98.46	gold quality
parietal lobe	UBERON:0001872	98.36	gold quality
postcentral gyrus	UBERON:0002581	98.29	gold quality
nucleus accumbens	UBERON:0001882	98.13	gold quality
corpus callosum	UBERON:0002336	98.11	gold quality
dorsal plus ventral thalamus	UBERON:0001897	98.05	gold quality
dorsal root ganglion	UBERON:0000044	98.02	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-GEOD-93593	yes	1509.20
E-GEOD-84465	yes	1491.62
E-MTAB-8894	yes	1231.64
E-ANND-3	yes	3.76

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

124 targeting PMP2, 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-4481	100.00	66.42	1669
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-511-3P	99.99	68.85	1467
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-485-3P	99.98	70.68	1585
HSA-MIR-539-3P	99.98	70.74	1616
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-4745-5P	99.98	65.95	1028
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-6888-3P	99.97	65.95	1170
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-3658	99.96	73.87	4379
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-3912-5P	99.95	66.11	925
HSA-MIR-141-3P	99.94	72.79	2421
HSA-MIR-200A-3P	99.94	72.68	2420
HSA-MIR-539-5P	99.93	70.30	2855
HSA-MIR-10527-5P	99.91	72.28	3754
HSA-MIR-10523-5P	99.91	69.22	2038
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-3529-3P	99.90	73.55	3045
HSA-MIR-6499-3P	99.90	66.38	1212
HSA-MIR-374A-5P	99.90	71.34	2923
HSA-MIR-374B-5P	99.90	69.98	2734
HSA-MIR-153-5P	99.89	73.86	6317

Literature-anchored findings (GeneRIF, showing 14)

• the structure and function of the P2 protein from human myelin, which is able to bind both monomeric lipids inside its cavity and membrane surfaces (PMID:20421974)
• The structure of human P2 refined at the ultrahigh resolution of 0.93 A allows detailed structural analyses, including the full organization of an internal hydrogen-bonding network. (PMID:24419389)
• A fully deuterated sample of myelin P2 protein was produced identifying the neutron crystal structure. (PMID:26527266)
• This report might expand the genetic and clinical features of Charcot-Marie-Tooth disease and a further mechanism study will enhance our understanding of PMP2-associated peripheral neuropathy. (PMID:26828946)
• Our genetic and clinical findings in these kindred demonstrate that dominant PMP2 mutations cause Charcot-Marie- Tooth disease type 1. (PMID:27009151)
• These findings demonstrate that altered biophysical properties and functional dynamics of P2 may cause myelin defects in Charcot-Marie-Tooth disease 1 patients. (PMID:28747762)
• SH3TC2, PMP2, and BSCL2 pathogenic variants might be rare in Chinese Charcot-Marie-Tooth (CMT) patients. (PMID:29336362)
• The structural characterization of the F57A mutant of P2 which shows changes in the portal region and helix alpha2 and an unfolded status upon lipid bilayer binding. Further results suggest a central role for Phe57 in regulating the opening of the portal region in human P2, and the F57A mutation disturbs dynamic cross-correlation networks in the portal region of P2. (PMID:29940944)
• High PMP2 expression is associated with melanoma cell invasion. (PMID:30506895)
• Peripheral myelin protein 2 - a novel cluster of mutations causing Charcot-Marie-Tooth neuropathy. (PMID:31412900)
• Cryo-EM, X-ray diffraction, and atomistic simulations reveal determinants for the formation of a supramolecular myelin-like proteolipid lattice. (PMID:32265298)
• Early onset demyelinating Charcot-Marie-Tooth disease caused by a novel in-frame isoleucine deletion in peripheral myelin protein 2. (PMID:32277537)
• Human myelin protein P2: from crystallography to time-lapse membrane imaging and neuropathy-associated variants. (PMID:34138518)
• PMP2/FABP8 induces PI(4,5)P2-dependent transbilayer reorganization of sphingomyelin in the plasma membrane. (PMID:34758297)

Cross-species orthologs

10 orthologs

Organism	Symbol	Gene ID
danio_rerio	fabp4b	ENSDARG00000002311
danio_rerio	fabp4a	ENSDARG00000017299
danio_rerio	rbp7a	ENSDARG00000091906
danio_rerio	rbp5	ENSDARG00000101481
danio_rerio		ENSDARG00000109259
mus_musculus	Pmp2	ENSMUSG00000052468
rattus_norvegicus	Pmp2	ENSRNOG00000022707
drosophila_melanogaster	fabp	FBGN0037913
caenorhabditis_elegans		WBGENE00002259
caenorhabditis_elegans		WBGENE00002260

Paralogs (15): RBP2 (ENSG00000114113), RBP1 (ENSG00000114115), FABP3 (ENSG00000121769), RBP5 (ENSG00000139194), CRABP2 (ENSG00000143320), FABP2 (ENSG00000145384), RBP7 (ENSG00000162444), FABP1 (ENSG00000163586), FABP7 (ENSG00000164434), FABP5 (ENSG00000164687), CRABP1 (ENSG00000166426), FABP6 (ENSG00000170231), FABP4 (ENSG00000170323), FABP12 (ENSG00000197416), FABP9 (ENSG00000205186)

Protein

Protein identifiers

Myelin P2 protein — P02689 (reviewed: P02689)

Alternative names: Peripheral myelin protein 2

All UniProt accessions (2): P02689, E5RH45

UniProt curated annotations — full annotation on UniProt →

Function. May play a role in lipid transport protein in Schwann cells. May bind cholesterol.

Subunit / interactions. Monomer.

Subcellular location. Cytoplasm.

Disease relevance. Charcot-Marie-Tooth disease, demyelinating, type 1G (CMT1G) [MIM:618279] An autosomal dominant demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. CMT1G is characterized by distal muscle weakness and atrophy with onset in the first or second decade. The disease is caused by variants affecting the gene represented in this entry.

Domain organisation. Forms a beta-barrel structure that accommodates hydrophobic ligands in its interior.

Miscellaneous. P2 protein and myelin basic protein together constitute a major fraction of peripheral nervous system myelin protein.

Similarity. Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family.

RefSeq proteins (2): NP_001335310, NP_002668* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000463	Fatty_acid-bd	Domain
IPR000566	Lipocln_cytosolic_FA-bd_dom	Domain
IPR012674	Calycin	Homologous_superfamily
IPR031256	Myelin_P2	Family
IPR031259	ILBP	Family

Pfam: PF00061

UniProt features (27 total): strand 10, binding site 4, sequence variant 3, sequence conflict 3, helix 3, initiator methionine 1, chain 1, modified residue 1, disulfide bond 1

Structure

Experimental structures (PDB)

30 structures.

PDB	Method	Resolution (Å)
6S2M	X-RAY DIFFRACTION	0.72
6S2S	X-RAY DIFFRACTION	0.86
4BVM	X-RAY DIFFRACTION	0.93
4A1Y	X-RAY DIFFRACTION	1.2
6EW4	X-RAY DIFFRACTION	1.27
4D6A	X-RAY DIFFRACTION	1.45
7NSR	X-RAY DIFFRACTION	1.5
5N4P	X-RAY DIFFRACTION	1.53
6EW2	X-RAY DIFFRACTION	1.59
5N4M	X-RAY DIFFRACTION	1.59
6XU5	X-RAY DIFFRACTION	1.65
5N4Q	X-RAY DIFFRACTION	1.72
6XVQ	X-RAY DIFFRACTION	1.8
6XVS	X-RAY DIFFRACTION	1.8
6XVY	X-RAY DIFFRACTION	1.8
4A8Z	X-RAY DIFFRACTION	1.8
2WUT	X-RAY DIFFRACTION	1.85
3NR3	X-RAY DIFFRACTION	1.95
6EW5	X-RAY DIFFRACTION	1.95
6XVR	X-RAY DIFFRACTION	2
7NRW	X-RAY DIFFRACTION	2
7NTP	X-RAY DIFFRACTION	2.1
4D6B	X-RAY DIFFRACTION	2.12
4A1H	X-RAY DIFFRACTION	2.2
6XUA	X-RAY DIFFRACTION	2.3
6XUW	X-RAY DIFFRACTION	2.31
6XU9	X-RAY DIFFRACTION	2.7
6XW9	X-RAY DIFFRACTION	2.9
6STS	X-RAY DIFFRACTION	3
7O60	X-RAY DIFFRACTION, NEUTRON DIFFRACTION	2,2.4

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P02689-F1	96.49	0.95

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): 107; 107; 127–129; 127–129

Post-translational modifications (1): 2

Disulfide bonds (1): 118–125

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 166 (showing top): BROWNE_HCMV_INFECTION_4HR_UP, GOBP_ORGANIC_ACID_TRANSPORT, GOBP_ORGANIC_ANION_TRANSPORT, HOSHIDA_LIVER_CANCER_LATE_RECURRENCE_DN, NIKOLSKY_BREAST_CANCER_8Q12_Q22_AMPLICON, SCHLOSSER_SERUM_RESPONSE_DN, GOBP_MONOCARBOXYLIC_ACID_TRANSPORT, GOBP_MEMBRANE_ORGANIZATION, GOBP_LIPID_LOCALIZATION, GOBP_FATTY_ACID_TRANSPORT, GOCC_MYELIN_SHEATH, GOMF_STEROID_BINDING, GOMF_FATTY_ACID_BINDING, GOMF_ALCOHOL_BINDING, GOMF_STEROL_BINDING

GO Biological Process (2): fatty acid transport (GO:0015908), membrane organization (GO:0061024)

GO Molecular Function (4): fatty acid binding (GO:0005504), cholesterol binding (GO:0015485), protein binding (GO:0005515), lipid binding (GO:0008289)

GO Cellular Component (5): nucleus (GO:0005634), cytosol (GO:0005829), myelin sheath (GO:0043209), extracellular exosome (GO:0070062), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
binding	2
lipid transport	1
monocarboxylic acid transport	1
cellular component organization	1
lipid binding	1
monocarboxylic acid binding	1
sterol binding	1
alcohol binding	1
intracellular membrane-bounded organelle	1
cytoplasm	1
extracellular vesicle	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

1358 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PMP2	PRX	Q9BXM0	867
PMP2	GDAP1	Q8TB36	834
PMP2	CDH1	P12830	825
PMP2	HSCB	Q8IWL3	752
PMP2	CDH17	Q12864	748
PMP2	RNMT	O43148	748
PMP2	CTNND1	O60716	667
PMP2	FABP6	P51161	622
PMP2	GJB1	P08034	613
PMP2	PEX19	P40855	603
PMP2	EGR2	P11161	570
PMP2	GOT2	P00505	542
PMP2	AJM1	C9J069	542
PMP2	MBP	P02686	519
PMP2	NCMAP	Q5T1S8	511

IntAct

7 interactions, top by confidence:

A	B	Type	Score
CCNDBP1	PMP2	psi-mi:“MI:0915”(physical association)	0.670
PMP2	CCNDBP1	psi-mi:“MI:0915”(physical association)	0.670
APP	ESYT2	psi-mi:“MI:0914”(association)	0.350
PRNP	MBP	psi-mi:“MI:0914”(association)	0.350

BioGRID (9): CCNDBP1 (Two-hybrid), AKR1B1 (Co-fractionation), PMP2 (Co-fractionation), PMP2 (Co-fractionation), PMP2 (Co-fractionation), PMP2 (Co-fractionation), PMP2 (Co-fractionation), EZR (Cross-Linking-MS (XL-MS)), PMP2 (Cross-Linking-MS (XL-MS))

ESM2 similar proteins: A0A0K0MJ13, A0A0K0MJN3, A6YLM6, C4N147, O01812, O01814, O02772, O08716, O13008, O15540, O45035, O97788, P02689, P02690, P02691, P04117, P05413, P06768, P07483, P0C6G6, P10790, P11404, P15090, P24526, P29498, P41496, P41509, P48035, P50120, P50121, P51880, P55051, P55052, P55053, P70623, P80049, P86412, Q01469, Q02970, Q05423

Diamond homologs: A0A0K0MJ13, A0A0K0MJN3, A6NFH5, A6YLM6, A8MUU1, B7SUM8, C4N147, O01812, O01814, O02323, O02324, O02772, O08716, O13008, O15540, O42386, O45035, O76821, O97788, P02689, P02690, P02691, P02694, P02696, P04117, P05413, P06768, P07148, P07483, P09455, P0C6G6, P10790, P11404, P12710, P15090, P22935, P24526, P29373, P29498, P29762

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	2
Uncertain significance	76
Likely benign	40
Benign	10

Top pathogenic / likely-pathogenic (3)

Variant ID	HGVS	Classification
599407	NM_002677.5(PMP2):c.151A>C (p.Thr51Pro)	Pathogenic
2573196	NM_002677.5(PMP2):c.128T>G (p.Ile43Ser)	Likely pathogenic
3236607	NM_002677.5(PMP2):c.167G>T (p.Ser56Ile)	Likely pathogenic

SpliceAI

358 predictions. Top by Δscore:

Variant	Effect	Δscore
8:81444987:CAC:C	acceptor_gain	1.0000
8:81444990:C:CA	acceptor_loss	1.0000
8:81447312:AC:A	donor_gain	1.0000
8:81447313:CC:C	donor_gain	1.0000
8:81444493:CTCTT:C	donor_loss	0.9900
8:81444494:TCTTA:T	donor_loss	0.9900
8:81444495:CTTA:C	donor_loss	0.9900
8:81444496:TTAC:T	donor_loss	0.9900
8:81444497:T:TG	donor_loss	0.9900
8:81444498:A:AG	donor_loss	0.9900
8:81444598:TGCT:T	acceptor_gain	0.9900
8:81444600:CT:C	acceptor_gain	0.9900
8:81444602:C:CC	acceptor_gain	0.9900
8:81444811:GATTA:G	donor_loss	0.9900
8:81444812:ATTAC:A	donor_loss	0.9900
8:81444813:TTA:T	donor_loss	0.9900
8:81444814:TACC:T	donor_loss	0.9900
8:81444815:ACC:A	donor_loss	0.9900
8:81444816:CCTT:C	donor_loss	0.9900
8:81444985:CACAC:C	acceptor_gain	0.9900
8:81444990:C:CC	acceptor_gain	0.9900
8:81444991:T:C	acceptor_loss	0.9900
8:81447309:CTTAC:C	donor_loss	0.9900
8:81447310:TTA:T	donor_loss	0.9900
8:81447311:TACC:T	donor_loss	0.9900
8:81447312:A:AC	donor_gain	0.9900
8:81447312:A:C	donor_loss	0.9900
8:81447313:C:CC	donor_gain	0.9900
8:81444498:A:AC	donor_gain	0.9800
8:81444499:C:CC	donor_gain	0.9800

AlphaMissense

868 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:81444850:A:C	F71L	0.972
8:81444850:A:T	F71L	0.972
8:81444852:A:G	F71L	0.972
8:81444826:T:A	R79S	0.971
8:81444826:T:G	R79S	0.971
8:81444527:T:A	R107S	0.964
8:81444527:T:G	R107S	0.964
8:81444868:G:C	F65L	0.964
8:81444868:G:T	F65L	0.964
8:81444870:A:G	F65L	0.964
8:81447336:A:C	F17L	0.963
8:81447336:A:T	F17L	0.963
8:81447338:A:G	F17L	0.963
8:81447362:A:G	W9R	0.963
8:81447362:A:T	W9R	0.963
8:81443422:G:C	C125W	0.962
8:81447360:C:A	W9C	0.960
8:81447360:C:G	W9C	0.960
8:81444905:C:G	R53P	0.959
8:81443424:A:G	C125R	0.952
8:81444599:G:C	S83R	0.952
8:81444599:G:T	S83R	0.952
8:81444601:T:G	S83R	0.952
8:81444895:A:C	S56R	0.944
8:81444895:A:T	S56R	0.944
8:81444897:T:G	S56R	0.944
8:81447324:C:A	M21I	0.937
8:81447324:C:G	M21I	0.937
8:81447324:C:T	M21I	0.937
8:81444507:A:G	M114T	0.930

dbSNP variants (sampled 300 via entrez): RS1000255873 (8:81444169 A>T), RS1000615100 (8:81447649 A>G,T), RS1000708430 (8:81441798 T>A), RS1001049779 (8:81447967 A>C), RS1001737722 (8:81448151 A>C), RS1001835698 (8:81442279 A>C), RS1001870317 (8:81447666 G>A,T), RS1002222112 (8:81448454 C>A,T), RS1002521411 (8:81440017 T>C), RS1002596332 (8:81440336 G>C), RS1003140304 (8:81446192 A>C,G), RS1003962254 (8:81443491 C>A,T), RS1004545635 (8:81440358 G>A), RS1004605905 (8:81441494 A>G), RS1004980554 (8:81440623 A>T)

Disease associations

OMIM: gene MIM:170715 | disease phenotypes: MIM:618279, MIM:118300

GenCC curated gene-disease

Disease	Classification	Inheritance
Charcot-Marie-Tooth disease, demyelinating, type 1G	Strong	Autosomal dominant

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
Charcot-Marie-Tooth disease	Moderate	AD

Mondo (3): peripheral neuropathy (MONDO:0005244), Charcot-Marie-Tooth disease, demyelinating, type 1G (MONDO:0033135), Charcot-Marie-Tooth disease type 1E (MONDO:0007311)

Orphanet (2): PMP2-related Charcot-Marie-Tooth disease type 1 (Orphanet:476394), Charcot-Marie-Tooth disease type 1E (Orphanet:90658)

HPO phenotypes

23 total (23 of 23 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0001288	Gait disturbance
HP:0001761	Pes cavus
HP:0001765	Hammertoe
HP:0002359	Frequent falls
HP:0002378	Hand tremor
HP:0002460	Distal muscle weakness
HP:0002936	Distal sensory impairment
HP:0003376	Steppage gait
HP:0003383	Onion bulb formation
HP:0003438	Absent Achilles reflex
HP:0003487	Babinski sign
HP:0003621	Juvenile onset
HP:0003677	Slowly progressive
HP:0003693	Distal amyotrophy
HP:0006844	Absent patellar reflexes
HP:0006886	Impaired distal vibration sensation
HP:0007328	Impaired pain sensation
HP:0009053	Distal lower limb muscle weakness
HP:0011096	Peripheral demyelination
HP:0012548	Fatty replacement of skeletal muscle
HP:0025708	Early young adult onset
HP:0033383	Decreased compound muscle action potential amplitude

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST001941_13	Ovarian cancer	6.000000e-09
GCST001941_17	Ovarian cancer	7.000000e-10
GCST003542_123	Night sleep phenotypes	7.000000e-06

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C537986	Charcot-Marie-Tooth disease, Type 1E (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL3826864 (SINGLE PROTEIN)

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

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: other protein — Fatty acid-binding proteins

CTD chemical–gene interactions

17 total (human), top 17 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, decreases methylation	4
bisphenol A	decreases methylation, affects cotreatment	1
sodium arsenite	affects methylation	1
S-(1,2-dichlorovinyl)cysteine	increases expression	1
entinostat	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
theaflavin-3,3’-digallate	affects expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Benzo(a)pyrene	decreases methylation	1
Etoposide	affects response to substance	1
Folic Acid	decreases expression	1
Lead	affects expression	1
Dronabinol	increases expression	1
Urethane	decreases expression	1
Asbestos, Serpentine	increases methylation	1
Lactic Acid	increases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL3828899	Binding	Displacement of 1,8-ANS from His6-tagged FABP8 (unknown origin) expressed in Escherichia coli BL21(DE3) cells at 25 uM by fluorescence assay relative to control	The discovery of novel and selective fatty acid binding protein 4 inhibitors by virtual screening and biological evaluation. — Bioorg Med Chem

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00380965	PHASE4	COMPLETED	Evaluation of the Efficacy of Cesamet™ for the Treatment of Pain in Patients With Chemotherapy-Induced Neuropathy
NCT00487981	PHASE4	TERMINATED	Spinal Cord Stimulation for Painful Diabetic Neuropathy
NCT00904202	PHASE4	COMPLETED	A Study Of Lidocaine Patch 5% Alone, Gabapentin Alone, And Lidocaine Patch 5% And Gabapentin In Combination For The Relief Of Pain In Patients With Diverse Peripheral Neuropathic Pain Conditions
NCT01192113	PHASE4	COMPLETED	Safety and Efficacy of Mecobalamin Injection in Peripheral Neuropathies Patients (Study JGAZSY091109)
NCT01373983	PHASE4	COMPLETED	Intrathecal Bolus Doses of Ziconotide
NCT01458015	PHASE4	TERMINATED	Tapentadol Versus Oxycodone - a Mechanism-based Treatment Approach in Neuropathic Pain
NCT02074267	PHASE4	COMPLETED	Clinical Study for Assessment of the Efficacy of Gabapentin (Carbatin and Neurontin) in Patients With Neuropathy Pain
NCT02372149	PHASE4	UNKNOWN	IVIg for Demyelination in Diabetes Mellitus
NCT02670161	PHASE4	ENROLLING_BY_INVITATION	Quality Improvement and Practice Based Research in Neurology Using the EMR
NCT07022938	PHASE4	COMPLETED	Nutritional Supplement for Treating Chemotherapy Induced Neuropathy
NCT07025005	PHASE4	RECRUITING	Fenofibrate Role in the Prophylaxis From Peripheral Neuropathy Induced by Bortezomib, Lenalidomide and Dexamethasone (VRd) Protocol in the Treatment of Patients With Multiple Myeloma (MM)
NCT00058071	PHASE3	COMPLETED	Amifostine in Treating Peripheral Neuropathy in Patients Who Have Received Chemotherapy for Cancer
NCT00125268	PHASE3	TERMINATED	Near Infrared Light for the Treatment of Painful Peripheral Neuropathy
NCT00195013	PHASE3	COMPLETED	Randomized Placebo-Controlled Trial of Glutamine for Breast Cancer Patients With Peripheral Neuropathy
NCT00232141	PHASE3	COMPLETED	Study of Pregabalin Versus Placebo in the Treatment of Nerve Pain Associated With HIV Neuropathy
NCT00264875	PHASE3	COMPLETED	Open Label Safety And Efficacy Study Of Pregabalin In Subjects With Nerve Pain Asociated With Human Immunodeficiency Virus (HIV) Neuropathy
NCT00369564	PHASE3	COMPLETED	Glutamic Acid in Reducing Nerve Damage Caused by Vincristine in Young Patients With Cancer
NCT00471445	PHASE3	COMPLETED	Topical Amitriptyline and Ketamine Cream in Treating Peripheral Neuropathy Caused by Chemotherapy in Cancer Patients
NCT00489411	PHASE3	COMPLETED	Duloxetine in Treating Peripheral Neuropathy Caused by Chemotherapy in Patients With Cancer
NCT00710554	PHASE3	COMPLETED	A Study of Sativex® for Pain Relief of Peripheral Neuropathic Pain, Associated With Allodynia
NCT00711880	PHASE3	COMPLETED	A Study of Sativex® for Relief of Peripheral Neuropathic Pain Associated With Allodynia.
NCT00713323	PHASE3	COMPLETED	A Study to Compare the Safety and Tolerability of Sativex® in Patients With Neuropathic Pain.
NCT00713817	PHASE3	COMPLETED	A Study to Determine the Maintenance of Effect After Long-term Treatment of Sativex® in Subjects With Neuropathic Pain
NCT00775645	PHASE3	COMPLETED	S0715: Acetyl-L-Carnitine in Preventing Neuropathy in Women With Stage I, II, or IIIA Breast Cancer Undergoing Chemo
NCT00872352	PHASE3	UNKNOWN	Evaluation of Bortezomib Induced Peripheral Neuropathy of Multiple Myeloma (MM) Patients
NCT00998738	PHASE3	TERMINATED	Calcium and Magnesium in Preventing Peripheral Neuropathy Caused by Ixabepilone in Patients With Breast Cancer
NCT01049217	PHASE3	TERMINATED	Pregabalin Versus Placebo In The Treatment Of Neuropathic Pain Associated With HIV Neuropathy
NCT01099449	PHASE3	COMPLETED	Calcium Gluconate and Magnesium Sulfate in Preventing Neurotoxicity in Patients With Colon Cancer or Rectal Cancer Receiving Oxaliplatin-Based Combination Chemotherapy
NCT01288937	PHASE3	TERMINATED	A Placebo Controlled, Randomized, Double Blind Trial of Milnacipran for the Treatment of Idiopathic Neuropathy Pain
NCT01492920	PHASE3	WITHDRAWN	Acetyl-L-Carnitine Hydrochloride in Preventing Peripheral Neuropathy in Patients With Recurrent Ovarian Epithelial Cancer, Primary Peritoneal Cavity Cancer, or Fallopian Tube Cancer Undergoing Chemotherapy
NCT01775449	PHASE3	COMPLETED	Prevention of Oxaliplatin-induced Neuropathic Pain by a Specific Diet
NCT02024191	PHASE3	UNKNOWN	The Role of Glutamine for Preventing Oxaliplatin-Induced Peripheral Neuropathy
NCT02217267	PHASE3	COMPLETED	Long Term Outcome After Serial Lidocaine Infusion in Peripheral Neuropathic Pain
NCT02294149	PHASE3	UNKNOWN	Vit D3 and Omega 3 in Chemo Induced Neuropathy
NCT02311907	PHASE3	COMPLETED	Glutathione in Preventing Peripheral Neuropathy Caused by Paclitaxel and Carboplatin in Patients With Ovarian Cancer, Fallopian Tube Cancer, and/or Primary Peritoneal Cancer
NCT06071936	PHASE3	UNKNOWN	Efficacy and Tolerability of AP707 in Patients With Chronic Pain Due to Traumatic or Post-operative Peripheral Neuropathy
NCT06071975	PHASE3	UNKNOWN	Long Term Efficacy and Tolerability of AP707 in Patients With Chronic Pain Due to Diabetic Polyneuropathy
NCT06071988	PHASE3	UNKNOWN	Long Term Efficacy and Tolerability of AP707 in Patients With Chronic Pain Due to Traumatic or Post-operative Peripheral Neuropathy
NCT06072573	PHASE3	UNKNOWN	Efficacy and Tolerability of AP707 in Patients With Chronic Pain Due to Diabetic Polyneuropathy
NCT07287592	PHASE3	NOT_YET_RECRUITING	Glutamine for the Prophylaxis of Vincristine-induced Neuropathy in Children and Adolescents With Cancer.