Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	5375
Gene name	Peripheral myelin protein 2
Gene symbol	PMP2
Synonyms (NCBI Gene)	CMT1GFABP8M-FABPMP2P2
Chromosome	8
Chromosome location	8q21.13
Summary	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 g

Show/Hide all (3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs879253869	A>T	Pathogenic, likely-pathogenic	Intron variant, coding sequence variant, missense variant
rs1563518388	A>G	Likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs1563518390	T>G	Pathogenic	Coding sequence variant, intron variant, missense variant

Show/Hide all (78)

miRTarBase ID	miRNA	Experiments	Reference
MIRT025888	hsa-miR-7-5p	Microarray	17612493
MIRT1244566	hsa-miR-103b	CLIP-seq
MIRT1244567	hsa-miR-15a	CLIP-seq
MIRT1244568	hsa-miR-15b	CLIP-seq
MIRT1244569	hsa-miR-16	CLIP-seq
MIRT1244570	hsa-miR-195	CLIP-seq
MIRT1244571	hsa-miR-208a	CLIP-seq
MIRT1244572	hsa-miR-208b	CLIP-seq
MIRT1244573	hsa-miR-3074-5p	CLIP-seq
MIRT1244574	hsa-miR-3176	CLIP-seq
MIRT1244575	hsa-miR-3185	CLIP-seq
MIRT1244576	hsa-miR-3200-5p	CLIP-seq
MIRT1244577	hsa-miR-3202	CLIP-seq
MIRT1244578	hsa-miR-339-5p	CLIP-seq
MIRT1244579	hsa-miR-3617	CLIP-seq
MIRT1244580	hsa-miR-3662	CLIP-seq
MIRT1244581	hsa-miR-3674	CLIP-seq
MIRT1244582	hsa-miR-376a	CLIP-seq
MIRT1244583	hsa-miR-376b	CLIP-seq
MIRT1244584	hsa-miR-3922-3p	CLIP-seq
MIRT1244585	hsa-miR-409-3p	CLIP-seq
MIRT1244586	hsa-miR-424	CLIP-seq
MIRT1244587	hsa-miR-4281	CLIP-seq
MIRT1244588	hsa-miR-4310	CLIP-seq
MIRT1244589	hsa-miR-4318	CLIP-seq
MIRT1244590	hsa-miR-4475	CLIP-seq
MIRT1244591	hsa-miR-4477a	CLIP-seq
MIRT1244592	hsa-miR-4524	CLIP-seq
MIRT1244593	hsa-miR-4679	CLIP-seq
MIRT1244594	hsa-miR-4693-5p	CLIP-seq
MIRT1244595	hsa-miR-4699-3p	CLIP-seq
MIRT1244596	hsa-miR-4703-3p	CLIP-seq
MIRT1244597	hsa-miR-4704-3p	CLIP-seq
MIRT1244598	hsa-miR-4709-3p	CLIP-seq
MIRT1244599	hsa-miR-4722-3p	CLIP-seq
MIRT1244600	hsa-miR-4747-5p	CLIP-seq
MIRT1244601	hsa-miR-4775	CLIP-seq
MIRT1244602	hsa-miR-4781-3p	CLIP-seq
MIRT1244603	hsa-miR-489	CLIP-seq
MIRT1244604	hsa-miR-497	CLIP-seq
MIRT1244605	hsa-miR-499-5p	CLIP-seq
MIRT1244606	hsa-miR-503	CLIP-seq
MIRT1244607	hsa-miR-509-3p	CLIP-seq
MIRT1244608	hsa-miR-563	CLIP-seq
MIRT1244609	hsa-miR-590-3p	CLIP-seq
MIRT1244610	hsa-miR-641	CLIP-seq
MIRT1244611	hsa-miR-646	CLIP-seq
MIRT1244612	hsa-miR-656	CLIP-seq
MIRT1244613	hsa-miR-664	CLIP-seq
MIRT1244614	hsa-miR-885-5p	CLIP-seq
MIRT1244615	hsa-miR-892a	CLIP-seq
MIRT2072331	hsa-miR-3171	CLIP-seq
MIRT2072332	hsa-miR-3691-5p	CLIP-seq
MIRT2072333	hsa-miR-4307	CLIP-seq
MIRT2072334	hsa-miR-4491	CLIP-seq
MIRT2072335	hsa-miR-4657	CLIP-seq
MIRT2072336	hsa-miR-4752	CLIP-seq
MIRT2072337	hsa-miR-4764-5p	CLIP-seq
MIRT2072331	hsa-miR-3171	CLIP-seq
MIRT2299509	hsa-miR-3606	CLIP-seq
MIRT1244581	hsa-miR-3674	CLIP-seq
MIRT2072332	hsa-miR-3691-5p	CLIP-seq
MIRT2299510	hsa-miR-3692	CLIP-seq
MIRT2299511	hsa-miR-377	CLIP-seq
MIRT1244587	hsa-miR-4281	CLIP-seq
MIRT2072334	hsa-miR-4491	CLIP-seq
MIRT1244592	hsa-miR-4524	CLIP-seq
MIRT2072335	hsa-miR-4657	CLIP-seq
MIRT2072336	hsa-miR-4752	CLIP-seq
MIRT2072337	hsa-miR-4764-5p	CLIP-seq
MIRT2299512	hsa-miR-4789-3p	CLIP-seq
MIRT2299513	hsa-miR-568	CLIP-seq
MIRT2299514	hsa-miR-579	CLIP-seq
MIRT2299515	hsa-miR-587	CLIP-seq
MIRT1244611	hsa-miR-646	CLIP-seq
MIRT2072333	hsa-miR-4307	CLIP-seq
MIRT2596186	hsa-miR-3913-3p	CLIP-seq
MIRT1244603	hsa-miR-489	CLIP-seq

Show/Hide all (13)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005504	Function	Fatty acid binding	IBA
GO:0005504	Function	Fatty acid binding	IDA	20421974
GO:0005515	Function	Protein binding	IPI	25416956, 31515488
GO:0005634	Component	Nucleus	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0008289	Function	Lipid binding	IEA
GO:0015485	Function	Cholesterol binding	IDA	20421974
GO:0015908	Process	Fatty acid transport	IBA
GO:0043209	Component	Myelin sheath	IEA
GO:0061024	Process	Membrane organization	IEA
GO:0061024	Process	Membrane organization	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145

MIM	HGNC	e!Ensembl
170715	9117	ENSG00000147588

P02689

Protein name

Myelin P2 protein (Peripheral myelin protein 2)

Protein function

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

PDB

2WUT , 3NR3 , 4A1H , 4A1Y , 4A8Z , 4BVM , 4D6A , 4D6B , 5N4M , 5N4P , 5N4Q , 6EW2 , 6EW4 , 6EW5 , 6S2M , 6S2S , 6STS , 6XU5 , 6XU9 , 6XUA , 6XUW , 6XVQ , 6XVR , 6XVS , 6XVY , 6XW9 , 7NRW , 7NSR , 7NTP , 7O60

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00061	Lipocalin	6 → 132	Lipocalin / cytosolic fatty-acid binding protein family	Domain

Sequence

MSNKFLGTWKLVSSENFDDYMKALGVGLATRKLGNLAKPTVIISKKGDIITIRTESTFKN
TEISFKLGQEFEETTADNRKTKSIVTLQRGSLNQVQRWDGKETTIKRKLVNGKMVAECKM
KGVVCTRIYEKV

Sequence length

132

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Charcot-Marie-Tooth disease, demyelinating, type 1G	Likely pathogenic; Pathogenic	rs879253869, rs2487481768, rs1563518388, rs1563518390	RCV000736030 RCV003482922 RCV004555990 RCV000736031 RCV000736032	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Peripheral neuropathy	Likely pathogenic; Pathogenic	rs2129708244, rs879253869	RCV001814440 RCV000235076	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
CHARCOT-MARIE-TOOTH DISEASE	—	ClinGen, Disgenet, GWAS catalog ClinGen, Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1E	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTANEOUS MASTOCYTOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL MYELIN PROTEIN 2-RELATED CHARCOT-MARIE-TOOTH DISEASE TYPE 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PMP2-RELATED CHARCOT-MARIE-TOOTH DISEASE TYPE 1	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PMP2-related disorder	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (22)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alzheimer Disease	Alzheimer disease	Pubtator	37149819	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	BEFREE	26828946, 29336362, 31412900		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1G	Charcot-Marie-Tooth disease	UNIPROT_DG	26257172, 26828946, 27009151, 30249361		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1G	Charcot-Marie-Tooth disease	ORPHANET_DG	26828946		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1G	Charcot-Marie-Tooth disease	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1G	Charcot-Marie-Tooth disease	GENOMICS_ENGLAND_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)	Charcot-Marie-Tooth disease	BEFREE	8530038		★★★★★ ★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	27009151	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gingival Diseases	Gingival diseases	Pubtator	31743516	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Motor and Sensory Neuropathy Type I	Hereditary motor and sensory neuropathy	BEFREE	27009151		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	19141834		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	30506895		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	30249361, 34138518	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	26828946, 30249361, 31412900		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	26828946, 31412900		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	31412900	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	CLINVAR_DG	26257172		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	26828946, 31412900		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PMP2-related Charcot-Marie-Tooth disease type 1	Charcot-Marie-Tooth Disease	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polyneuropathies	Polyneuropathy	Pubtator	31412900	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	16213148		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	16213148		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

PMP2 (peripheral myelin protein 2)