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

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	4359
Gene name Gene Name - the full gene name approved by the HGNC.	Myelin protein zero
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	MPZ
Synonyms (NCBI Gene) Gene synonyms aliases	CHM, CHN2, CMT1, CMT1B, CMT2I, CMT2J, CMT4E, CMTDI3, CMTDID, DSS, HMSNIB, MPP, P0
Chromosome Chromosome number	1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	1q23.3
Summary Summary of gene provided in NCBI Entrez Gene.	This gene is specifically expressed in Schwann cells of the peripheral nervous system and encodes a type I transmembrane glycoprotein that is a major structural protein of the peripheral myelin sheath. The encoded protein contains a large hydrophobic extr

Show/Hide all(114)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121913583	T>C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs121913584	G>A,C,T	Likely-pathogenic, pathogenic, uncertain-significance	Synonymous variant, coding sequence variant, missense variant
rs121913585	G>A,C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs121913586	C>G,T	Conflicting-interpretations-of-pathogenicity, pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs121913587	A>G	Pathogenic	Missense variant, coding sequence variant
rs121913588	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs121913589	C>A,G,T	Likely-pathogenic, uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs121913590	G>A,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs121913593	G>A	Pathogenic	Stop gained, coding sequence variant
rs121913594	T>A,C	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs121913595	G>A,T	Conflicting-interpretations-of-pathogenicity, pathogenic	Missense variant, coding sequence variant
rs121913596	C>A,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs121913597	T>A	Pathogenic	Missense variant, coding sequence variant
rs121913598	G>A,C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs121913599	G>T	Pathogenic	Missense variant, coding sequence variant
rs121913600	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs121913601	G>A,C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs121913602	T>A	Pathogenic	Missense variant, coding sequence variant
rs121913603	T>C,G	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs121913604	C>G	Pathogenic	Missense variant, coding sequence variant
rs121913605	G>C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs121913606	T>A	Pathogenic	Missense variant, coding sequence variant
rs121913608	C>A,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs121913609	G>C,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs144841836	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs201156403	C>T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs202176679	C>G,T	Uncertain-significance, benign, conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs267607241	A>G	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs267607242	T>G	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs267607243	C>T	Pathogenic, uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs267607244	A>G,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs267607245	C>T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs267607246	G>C,T	Pathogenic	Missense variant, coding sequence variant, synonymous variant
rs267607247	C>A	Pathogenic, uncertain-significance	Intron variant, missense variant, coding sequence variant
rs281865121	A>C,G	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs281865122	A>T	Pathogenic	Missense variant, coding sequence variant
rs281865123	G>A	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs281865124	A>G	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs281865125	T>-	Pathogenic, uncertain-significance	Coding sequence variant, frameshift variant
rs281865126	C>A	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs281865127	T>C	Pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs281865128	C>G,T	Pathogenic, uncertain-significance, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs281865129	->A	Pathogenic	Coding sequence variant, frameshift variant
rs281865130	T>C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs281865131	C>A	Pathogenic, uncertain-significance	Splice donor variant
rs281865132	G>A	Pathogenic, uncertain-significance	Intron variant, missense variant, coding sequence variant
rs281865133	C>A,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs371856018	T>C,G	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs377495735	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Intron variant
rs572010627	A>C,T	Pathogenic, likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs755446743	TCT>-	Not-provided, conflicting-interpretations-of-pathogenicity, likely-pathogenic, uncertain-significance	Intron variant, coding sequence variant, inframe deletion
rs760730366	GGGAGCCC>-	Pathogenic	Frameshift variant, coding sequence variant
rs770546306	G>A,C,T	Uncertain-significance, pathogenic	Synonymous variant, missense variant, coding sequence variant
rs786204119	T>C	Pathogenic, likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs786204215	G>A	Pathogenic	Missense variant, coding sequence variant
rs797044845	C>T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs797044941	C>G,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs863224449	G>A,C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs863225025	C>A,G,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs863225026	TCTGGGGGAGGGGCG>-	Pathogenic	Splice acceptor variant, coding sequence variant, intron variant
rs864622732	T>A,C	Pathogenic, likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs876661257	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs876661287	C>A	Pathogenic	Missense variant, coding sequence variant
rs879253858	T>G	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs879254038	T>C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs879254054	A>C	Pathogenic, uncertain-significance	Splice donor variant
rs879254109	GAG>-	Pathogenic, uncertain-significance	Coding sequence variant, inframe deletion
rs879254297	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1017715903	C>T	Pathogenic, uncertain-significance	Coding sequence variant, stop gained
rs1057518021	C>G,T	Likely-pathogenic, pathogenic	Splice acceptor variant
rs1057518839	A>C	Likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs1060503423	A>G	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1064795521	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1131691852	C>A	Likely-pathogenic	Coding sequence variant, synonymous variant
rs1182353109	A>-	Pathogenic, uncertain-significance	Frameshift variant, coding sequence variant
rs1407955132	C>A	Likely-pathogenic	Splice donor variant
rs1427063795	T>C	Pathogenic	Initiator codon variant, missense variant, coding sequence variant
rs1553259511	->T	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1553259529	->C	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553259536	T>A	Pathogenic	Splice acceptor variant
rs1553259566	->CTGC	Pathogenic	Frameshift variant, coding sequence variant
rs1553259568	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553259643	TACA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553259647	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1553259648	G>A,C,T	Likely-pathogenic, uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs1553259651	->TCAC	Pathogenic	Coding sequence variant, inframe indel, stop gained
rs1553259656	C>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1553259662	A>G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1553259663	G>A,C	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1553259683	G>A	Uncertain-significance, pathogenic	Coding sequence variant, stop gained
rs1553259697	->GTCAA	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553259703	G>A	Pathogenic	Coding sequence variant, stop gained
rs1553259707	T>C,G	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs1553259790	G>A	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs1553259792	CAG>-,CAGCAG	Likely-pathogenic, uncertain-significance	Coding sequence variant, inframe deletion, inframe insertion
rs1553260014	C>T	Pathogenic	Splice donor variant
rs1553260017	->CATAGCTGGGGCAGGGGCAGGGGCCCGGAGC	Pathogenic	Initiator codon variant, frameshift variant, 5 prime UTR variant
rs1558153994	G>A	Pathogenic, uncertain-significance	Coding sequence variant, synonymous variant
rs1558154010	G>A,C	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1558154149	C>G,T	Likely-pathogenic, uncertain-significance	Stop gained, coding sequence variant, missense variant
rs1558154193	C>T	Likely-pathogenic, pathogenic, uncertain-significance	Coding sequence variant, synonymous variant
rs1558154208	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1558154754	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1571817103	CACT>-	Likely-pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1571817544	CCT>G	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1571817911	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1571817966	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1571818248	G>-	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs1571819182	A>G	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs1571819324	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1571819906	G>T	Pathogenic	Coding sequence variant, stop gained
rs1571819946	C>T	Pathogenic	Coding sequence variant, stop gained
rs1571820100	C>G,T	Uncertain-significance, pathogenic	Coding sequence variant, stop gained, missense variant
rs1571820401	TGCAAGCAC>-	Pathogenic	Coding sequence variant, intron variant, splice acceptor variant

Show/Hide all(36)

miRTarBase ID	miRNA	Experiments	Reference
MIRT669027	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT669028	hsa-miR-4308	HITS-CLIP	23824327
MIRT669026	hsa-miR-4292	HITS-CLIP	23824327
MIRT669025	hsa-miR-6791-5p	HITS-CLIP	23824327
MIRT669024	hsa-miR-4485-5p	HITS-CLIP	23824327
MIRT669023	hsa-miR-1281	HITS-CLIP	23824327
MIRT669022	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT669021	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT669020	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT669019	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT669027	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT669028	hsa-miR-4308	HITS-CLIP	23824327
MIRT669026	hsa-miR-4292	HITS-CLIP	23824327
MIRT669025	hsa-miR-6791-5p	HITS-CLIP	23824327
MIRT669024	hsa-miR-4485-5p	HITS-CLIP	23824327
MIRT669023	hsa-miR-1281	HITS-CLIP	23824327
MIRT669022	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT669021	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT669020	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT669019	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT2045011	hsa-miR-3120-5p	CLIP-seq
MIRT2045012	hsa-miR-4279	CLIP-seq
MIRT2045013	hsa-miR-4768-5p	CLIP-seq
MIRT2045014	hsa-miR-593	CLIP-seq
MIRT2274199	hsa-miR-342-5p	CLIP-seq
MIRT2274200	hsa-miR-361-3p	CLIP-seq
MIRT2274201	hsa-miR-4286	CLIP-seq
MIRT2274202	hsa-miR-4313	CLIP-seq
MIRT2274203	hsa-miR-4447	CLIP-seq
MIRT2274204	hsa-miR-4472	CLIP-seq
MIRT2274205	hsa-miR-4651	CLIP-seq
MIRT2274206	hsa-miR-4664-5p	CLIP-seq
MIRT2274207	hsa-miR-579	CLIP-seq
MIRT2274208	hsa-miR-608	CLIP-seq
MIRT2274209	hsa-miR-625	CLIP-seq
MIRT2274210	hsa-miR-661	CLIP-seq

Transcription factors

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Transcription factor	Regulation	Reference
EGR2	Unknown	21179557
SOX10	Unknown	21179557

Show/Hide all(15)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005198	Function	Structural molecule activity	NAS	7693129
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	18337304
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	NAS	7693130
GO:0005886	Component	Plasma membrane	TAS	7506095
GO:0007268	Process	Chemical synaptic transmission	TAS	7693129
GO:0016020	Component	Membrane	IEA
GO:0042552	Process	Myelination	IBA
GO:0042552	Process	Myelination	IMP	10545037
GO:0043209	Component	Myelin sheath	IEA
GO:0045202	Component	Synapse	IEA
GO:0098742	Process	Cell-cell adhesion via plasma-membrane adhesion molecules	IBA
GO:0098742	Process	Cell-cell adhesion via plasma-membrane adhesion molecules	IMP	18337304
GO:0098743	Process	Cell aggregation	IMP	18337304

MIM	HGNC	e!Ensembl
159440	7225	ENSG00000158887

Protein

UniProt ID

P25189

Protein name

Myelin protein P0 (Myelin peripheral protein) (MPP) (Myelin protein zero)

Protein function

Is an adhesion molecule necessary for normal myelination in the peripheral nervous system. It mediates adhesion between adjacent myelin wraps and ultimately drives myelin compaction.

PDB

3OAI , 8IIA

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07686	V-set	33 → 147	Immunoglobulin V-set domain	Domain
PF10570	Myelin-PO_C	184 → 248	Myelin-PO cytoplasmic C-term p65 binding region	Domain

Tissue specificity

TISSUE SPECIFICITY: Found only in peripheral nervous system Schwann cells.

Sequence

MAPGAPSSSPSPILAVLLFSSLVLSPAQAIVVYTDREVHGAVGSRVTLHCSFWSSEWVSD
DISFTWRYQPEGGRDAISIFHYAKGQPYIDEVGTFKERIQWVGDPRWKDGSIVIHNLDYS
DNGTFTCDVKNPPDIVGKTSQVTLYVFEKVPTRYGVVLGAVIGGVLGVVLLLLLLFYVVR
YCWLRRQAALQRRLSAMEKGKLHKPGKDASKRGRQTPVLYAMLDHSRSTKAVSEKKAKGL
GESRKDKK

Sequence length

248

Interactions

View interactions

	KEGG		Reactome
	Cell adhesion molecules		EGR2 and SOX10-mediated initiation of Schwann cell myelination

Show/Hide Causal Diseases (8)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Charcot-Marie-Tooth disease	Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease, type 1b, with focally folded myelin sheaths, Charcot-Marie-Tooth disease dominant intermediate D	rs1571819964, rs1558154149, rs1553259511, rs1553259643, rs1057518021, rs1571820186, rs121913601, rs1553259697, rs879253858, rs797044941, rs121913594, rs1553259662, rs863224449, rs121913585, rs1060503423 View all (72 more)	N/A
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease, charcot-marie-tooth disease type 1b, Charcot-Marie-Tooth disease type 2J, Charcot-Marie-Tooth disease type 2I	rs797044845, rs864622732, rs281865121, rs121913594, rs121913597, rs281865125, rs1571817154, rs1571818819, rs573007540, rs121913589, rs786204215, rs879253858, rs1571819964, rs1558154149, rs1571818248 View all (63 more)	N/A
dejerine-sottas disease	Dejerine-Sottas disease	rs121913585, rs281865121, rs797044941, rs121913586, rs1553259656, rs1571819975, rs1558153994, rs1553259568, rs121913587, rs1553259566	N/A
Neuropathy	neuropathy, congenital hypomyelinating, 2	rs121913595, rs1553259568, rs121913593	N/A
Dejerine-Sottas Disease	Dejerine-Sottas syndrome, autosomal dominant	rs121913586, rs121913585	N/A
Distal Hereditary Motor Neuronopathy	distal hereditary motor neuropathy type 2	rs121913595	N/A
Mental retardation	intellectual disability	rs1571818248	N/A
Peripheral Neuropathy	peripheral neuropathy	rs1553259707	N/A

Show/Hide Text Mining Associations (65)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adrenal Hyperplasia Congenital	Associate	36583008
Alcoholic Neuropathy	Associate	14742601, 17940173
Ataxia	Associate	12845552
Auditory neuropathy	Associate	12805115, 17765268
Autonomic Nervous System Diseases	Associate	26234237
Basal Ganglia Diseases	Associate	15377707
Bilateral Vestibulopathy	Associate	11080236
Charcot Marie Tooth Disease	Associate	10329755, 10764043, 11080236, 11080237, 11160475, 11545686, 12845552, 14742601, 15377707, 15716547, 16252242, 16543539, 16844954, 16912585, 17765268 View all (29 more)
Charcot Marie Tooth Disease Dominant Intermediate D	Associate	33825325
Charcot Marie Tooth disease Type 2B	Associate	10764043, 15377707, 20350294, 33179255, 37581289
Charcot Marie Tooth disease Type 2I	Associate	33825325
Charcot Marie Tooth disease Type 2J	Associate	26234237
Charcot Marie Tooth disease Type 4A	Associate	30257968, 37581289
Charcot Marie Tooth disease Type 4A axonal form	Associate	19293842
Charcot Marie Tooth disease Type 4E	Associate	10764043, 11080236, 16252242, 17940173, 20621479, 22176150, 37581289, 8816708
Charcot Marie Tooth disease X linked recessive 2	Associate	10764043
Colorectal Neoplasms	Associate	37728516
Colorectal Neoplasms Hereditary Nonpolyposis	Associate	37728516
Deafness	Associate	11080237, 12805115, 15377707
Demyelinating Diseases	Associate	11080236, 17940173, 19293842, 22176150, 22451207, 24053775, 31769568, 8871588
Disease	Associate	12805115, 16543539
Dyspnea	Associate	21840889
Endometrial Neoplasms	Associate	37728516
Facial Nerve Diseases	Associate	11080236
Foot Deformities	Associate	15716547
Genetic Diseases Inborn	Associate	10727485
Glucosephosphate Dehydrogenase Deficiency	Associate	37728516
Hashimoto's encephalitis	Associate	11080236
Hearing Disorders	Associate	12805115
Hearing Loss	Associate	16844954, 17765268
Hemifacial Spasm	Associate	30920665
Hereditary Sensory and Autonomic Neuropathies	Associate	37372933
Hereditary Sensory and Motor Neuropathy	Associate	10329755, 10406984, 10764043, 11080236, 12805115, 16252242, 16844954, 17940173, 29670817, 31173589, 8816708
Hypesthesia	Associate	15716547
Immune System Diseases	Associate	10727485
Inherited Peripheral Neuropathy	Associate	37581289
Monoclonal Gammopathy of Undetermined Significance	Associate	11876747
Multiple Sclerosis Relapsing Remitting	Associate	28032003
Muscle Cramp	Associate	15716547, 27088055
Muscle Hypotonia	Associate	21840889, 22176150, 27353517
Muscle Weakness	Associate	11080236, 11080237, 12845552
Muscular Atrophy	Associate	11080237
Neoplastic Syndromes Hereditary	Associate	11080236, 12845552, 21840889, 22704856, 28902413, 36567457, 37372933, 37581289
Nerve Degeneration	Associate	12845552
Nervous System Diseases	Associate	11080237, 16252242, 16844954, 22176150, 22704856, 22734905, 26310628, 31173589, 37581289
Neuralgia	Associate	22704856
Neurofibroma Plexiform	Associate	15255999
Neuromuscular Diseases	Associate	32154989
Neuropathy Painful	Associate	16844954
Peripheral Nervous System Diseases	Associate	14742601, 16252242, 17940173, 26310628
Polyneuropathies	Associate	11876747, 17940173, 27164712, 30677751
Polyradiculoneuropathy Chronic Inflammatory Demyelinating	Associate	11080236, 28257655
Polyradiculopathy	Associate	33179255
Pupil Disorders	Associate	12845552, 15377707, 27088055
Radiculopathy	Associate	27088055, 33179255
Recurrence	Associate	11160475
Reflex Abnormal	Associate	12845552
Restless Legs Syndrome	Associate	16844954
Scoliosis	Associate	26310628
Sensation Disorders	Associate	11080237, 12845552
Spinal Diseases	Associate	33179255
Squamous Cell Carcinoma of Head and Neck	Associate	37876534
Tonic Pupil	Associate	11080237
Trigeminal Neuralgia	Associate	30920665
Usher syndrome type 1E	Associate	35886002

MPZ (myelin protein zero)