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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PMP22 Gene

protein-coding   GIFtS: 64
GCID: GC17M015133

peripheral myelin protein 22
 Explore 60 diseases affiliated with
PMP22 via
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our new
 Human Malady Compendium 
Biological research products
for PMP22    

Aliases
for PMP22 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Peripheral Myelin Protein 221 2     CMT1A2 5
GAS-31 2 3     CMT1E2 5
HNPP1 2     DSS2 5
Sp1101 2     HMSNIA2
Growth Arrest-Specific Protein 32 3     Growth Arrest-Specific 32
PMP-222 3     GAS33

External Ids:    HGNC: 91181   Entrez Gene: 53762   Ensembl: ENSG000001090997   OMIM: 6010975   UniProtKB: Q014533   

Export aliases for PMP22 gene to outside databases

Previous GC identifers: GC17M015499 GC17M016248 GC17M015076 GC17M015333 GC17M015073


Summaries
for PMP22 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for PMP22:
This gene encodes an integral membrane protein that is a major component of myelin in the peripheral nervous system.
Various mutations of this gene are causes of Charcot-Marie-Tooth disease Type IA, Dejerine-Sottas syndrome, and
hereditary neuropathy with liability to pressure palsies. Alternative splicing of this gene results in three
transcript variants that encode the same protein. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: PMP22_HUMAN, Q01453
Function: Might be involved in growth regulation, and in myelinization in the peripheral nervous system

Gene Wiki entry for PMP22 (Peripheral myelin protein 22)


Genomic Views
for PMP22 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.1  NT_010718.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PMP22 gene promoter:
         p53   AP-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): PMP22 promoter sequence
   Search SABiosciences Chromatin IP Primers for PMP22

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PMP22


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17p12   Ensembl cytogenetic band:  17p12   HGNC cytogenetic band: 17p12

PMP22 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PMP22 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M015133:  view genomic region     (about GC identifiers)

Start:
 15,133,095 bp from pter      End:
 15,168,644 bp from pter
Size:
 35,550 bases      Orientation:
 minus strand

Proteins
for PMP22 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: PMP22_HUMAN, Q01453 (See protein sequence)
Recommended Name: Peripheral myelin protein 22  
Size: 160 amino acids; 17891 Da
Subcellular location: Cell membrane; Multi-pass membrane protein
Secondary accessions: Q8WV01

Explore the universe of human proteins at neXtProt for PMP22: NX_Q01453

PMP22 Protein expression data from MOPED and PaxDb:    About this image 

Estimated protein expression log10 (pmol).

REFSEQ proteins (3 alternative transcripts): 
NP_000295.1  NP_696996.1  NP_696997.1  

ENSEMBL proteins: 
 ENSP00000379269   ENSP00000308937   ENSP00000462782   ENSP00000379268   ENSP00000464468  
 ENSP00000409824  

Human Recombinant Protein Products: 
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Browse recombinant and purified proteins available from Enzo Life Sciences
OriGene Purified Proteins (see all 2): PMP22
OriGene Protein Over-expression Lysate (see all 5): PMP22
OriGene Custom Protein Services for PMP22 
GenScript Custom Purified and Recombinant Proteins Services for PMP22
Novus Biologicals PMP22 Proteins
Novus Biologicals PMP22 Lysates
Browse Sino Biological Recombinant Proteins
Browse ProSpec Recombinant Proteins
Uscn Proteins for PMP22

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005886plasma membrane IEA--
GO:0005923tight junction IEA--
GO:0016021integral to membrane IEA--
GO:0043218compact myelin IEA--


PMP22 for ontologies           About GeneDecksing



PMP22 Antibody Products: 
EMD Millipore Mono- and Polyclonal Antibodies for the study of PMP22
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OriGene Antibodies (see all 2): PMP22
OriGene Custom Antibody Services for PMP22 
GenScript Custom Superior Antibodies Services for PMP22
Novus Biologicals PMP22 Antibodies
Abcam antibodies for PMP22 
Uscn Antibodies for PMP22
ThermoFisher Antibody for PMP22

Assay Products for PMP22: 
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OriGene Custom Immunoassay Development
Browse OriGene Fluorogenic Cell Assay Kits
Browse R&D Systems for biochemical assays
GenScript Custom Assay Services for PMP22
Browse Enzo Life Sciences for kits & assays
Uscn ELISAs and CLIAs for PMP22

Protein Domains /
Families
for PMP22 gene

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
PMP22 for domains           About GeneDecksing

3 InterPro domains/families:
 IPR004032 PMP22_EMP_MP20
 IPR003936 PMP22
 IPR004031 PMP22/EMP/MP20/Claudin

Graphical View of Domain Structure for InterPro Entry Q01453

ProtoNet protein and cluster: Q01453

2 Blocks protein families:
IPB003936 Peripheral myelin protein PMP22 signature
IPB004032 PMP-22/EMP/MP20 family


UniProtKB/Swiss-Prot: PMP22_HUMAN, Q01453
Similarity: Belongs to the PMP-22/EMP/MP20 family


Function
for PMP22 gene

(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section
Function Summary:

     UniProtKB/Swiss-Prot: PMP22_HUMAN, Q01453
Function: Might be involved in growth regulation, and in myelinization in the peripheral nervous system

     Genatlas biochemistry entry for PMP22:
growth arrest specific gene 3,expressed in Schwann cells of the peripheral myelin protein and in cochlea,involved in
formation and maintenance of compacting myelin,homologous to Pmp-22 peripheral myelin protein,mutated in trembler
mouse,involved in normal axonal cytoskeletal organization

miRNA
Products:    		 OriGene 3'-UTR Clone (see all 3): PMP22
Browse MicroRNA Expression Plasmids
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PMP22
8/25 QIAGEN miScript miRNA Assays for microRNAs that regulate PMP22 (see all 25):
hsa-miR-411* hsa-miR-4317 hsa-miR-379* hsa-miR-139-5p hsa-miR-29c hsa-miR-29a hsa-miR-767-5p hsa-miR-340
SwitchGear 3'UTR luciferase reporter plasmid: PMP22 3' UTR sequence
Inhib. RNA
Products:    		Browse for Gene Knock-down Tools from EMD Millipore
OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PMP22 (see all 7)
OriGene shRNA RFP: PMP22
OriGene siRNA: PMP22
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PMP22

Gene Editing
Products:		DNA2.0 Custom Protein Engineering Service for PMP22

Clone
Products:     		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PMP22 (see all 5)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PMP22 (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
GenScript: all cDNA clones in your preferred vector (see all 3): PMP22 (NM_153321)
Browse Sino Biological Human cDNA Clones
DNA2.0 Custom Codon Optimized Gene Synthesis Service for PMP22
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PMP22 

Cell Line
Products:     		GenScript Custom overexpressing Cell Line Services for PMP22
Search LifeMap BioReagents cell lines for PMP22

In Situ Assay
Products:   
 		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PMP22

Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005515protein binding IPI14709540


PMP22 for ontologies           About GeneDecksing


2 GenomeRNAi human phenotypes for PMP22:
 Increased gamma-H2AX phosphory  Upregulation of Wnt/beta-caten 

Animal Models:
     Mouse knock-out Pmp22tm1Ueli for PMP22
     7 MGI mutant phenotypes (inferred from 9 alleles) (MGI details for Pmp22):
 behavior/neurological  cellular  growth/size  mortality/aging  muscle 
 nervous system  reproductive system 

PMP22 for phenotypes           About GeneDecksing


Pathways & Interactions
for PMP22 gene

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways  About this table 
See pathways by source

Super-pathwaycontained gene-specific pathways
1Neural Crest Differentiation
Neural Crest Differentiation1.00
2a6b1 and a6b4 Integrin signaling
a6b1 and a6b4 Integrin signaling1.00


2 BioSystems Pathways for PMP22 
    Neural Crest Differentiation
a6b1 and a6b4 Integrin signaling


Interactions:

    SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PMP22

STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

5/6 Interacting proteins for PMP22 (Q014533 ENSP000003089374) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
InteractantInteraction Details
GeneCardExternal ID(s)
MPZP251893, ENSP000003536344I2D: score=3 STRING: ENSP00000353634
CANXP278243, ENSP000002474614I2D: score=2 STRING: ENSP00000247461
PEX19P408553, ENSP000003570514I2D: score=2 STRING: ENSP00000357051
SIVA1ENSP000003292134STRING: ENSP00000329213
ELAVL1ENSP000003852694STRING: ENSP00000385269
About this table

Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0007268synaptic transmission TAS8275092
GO:0007422peripheral nervous system development TAS8275092
GO:0008285negative regulation of cell proliferation IEA--
GO:0010977negative regulation of neuron projection development IEA--
GO:0030154cell differentiation ----


PMP22 for ontologies           About GeneDecksing



Drugs & Compounds
for PMP22 gene

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

PMP22 for compounds           About GeneDecksing

Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for PMP22
10/18 Novoseek chemical compound relationships for PMP22 gene (see all 18)    About this table
Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
dihydroprogesterone 64 6 15850671 (1), 10340743 (1), 17187935 (1), 12943718 (1)
tetradecylthioacetic acid 48 3 11583144 (2)
progesterone 23 26 9751213 (3), 15850671 (2), 10340743 (2), 10453050 (2) (see all 12)
bamhi 21.9 2 7955724 (1), 7612387 (1)
ascorbic acid 17.3 9 16969156 (1), 19427269 (1), 20225028 (1), 15034573 (1) (see all 6)
ganglioside 6.05 2 11796774 (1)
forskolin 0 3 15207283 (1), 7929285 (1)
steroid 0 5 11599299 (1), 15850671 (1), 10806367 (1), 12943718 (1)
steroidal 0 1 11599299 (1)
leucine 0 4 15363066 (1), 9004143 (1), 7675244 (1)

Search CenterWatch for drugs/clinical trials and news about PMP22 

Transcripts
for PMP22 gene

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section
REFSEQ mRNAs for PMP22 gene (3 alternative transcripts): 
NM_000304.2  NM_153321.1  NM_153322.1  

Unigene Cluster for PMP22:

Peripheral myelin protein 22
Hs.372031  [show with all ESTs]
Unigene Representative Sequence: NM_000304
8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000395938(uc002gok.3) ENST00000312280(uc002goj.3 uc002gol.3)
ENST00000494511 ENST00000395936 ENST00000580584 ENST00000426385 ENST00000580497
ENST00000471150

miRNA
Products:     		 OriGene 3'-UTR Clone (see all 3): PMP22
Browse OriGene MicroRNA Expression Plasmids
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PMP22
8/25 QIAGEN miScript miRNA Assays for microRNAs that regulate PMP22 (see all 25):
hsa-miR-411* hsa-miR-4317 hsa-miR-379* hsa-miR-139-5p hsa-miR-29c hsa-miR-29a hsa-miR-767-5p hsa-miR-340
SwitchGear 3'UTR luciferase reporter plasmid: PMP22 3' UTR sequence
Inhib. RNA
Products:     		Browse for Gene Knock-down Tools from EMD Millipore
OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PMP22 (see all 7)
OriGene shRNA RFP: PMP22
OriGene siRNA: PMP22
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PMP22
Clone
Products:     		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PMP22 (see all 5)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PMP22 (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
GenScript: all cDNA clones in your preferred vector (see all 3): PMP22 (NM_153321)
DNA2.0 Custom Codon Optimized Gene Synthesis Service for PMP22
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PMP22 
Primer
Products:    		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PMP22
Browse OriGene validated miRNA SYBR primer pairs
SABiosciences RT2 qPCR Primer Assay in human, mouse, rat PMP22
  QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PMP22
  QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PMP22

Additional cDNA sequence: 

AK290640.1 AK300690.1 BC019040.2 BC091499.1 CR541931.1 CR541953.1 D11428.1 L03203.1 
M94048.1 X65968.1 

18 DOTS entries:

DT.100030448  DT.95337581  DT.100849683  DT.92438382  DT.100800630  DT.100874649  DT.100675240  DT.95337578 
DT.120950721  DT.99965533  DT.100724570  DT.100849841  DT.75190858  DT.92438375  DT.92438376  DT.95301607 
DT.95337576  DT.95337577 

24/518 AceView cDNA sequences (see all 518):

BQ019972 AI818514 CR604834 CR611493 BM997649 H89348 AI280403 CR602976 
AA447704 CR604692 BG939651 CR597127 BF725606 BQ720776 CR618628 CR610349 
AI126521 AA447860 NM_153322 BF445587 CR615858 AI128017 H89532 AA470407 

GeneLoc Exon Structure

5/7 Alternative Splicing Database (ASD) splice patterns (SP) for PMP22 (see all 7)    About this scheme

ExUns: 1 ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c · 7d
SP1:        -     -     -     -                 -           -     -                           
SP2:                    -     -                 -           -     -                           
SP3:                                            -           -                                 
SP4:                    -     -                 -                                             
SP5:                                            -           -     -                           


ECgene alternative splicing isoforms for PMP22

Expression
for PMP22 gene

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

PMP22 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ATCCTGTCGA

Microarray
RNAseq (Illumina Body Map)
(100×FPKM)½
SAGE (Serial Analysis of Gene Expression)
About this image

PMP22 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
3 LifeMap In Vivo Development Anatomical Compartments/Cells 
Tissue Anatomical Compartment CellCategory (developmental path)
Extraembryonic MesodermExtraembryonic Capillary PlexusExtraembryonic AngioblastsEndothelium
BoneMandibular ProcessBone
Skeletal MuscleExtraocular MusclesSkeletal Muscle
Expression: Positive    Negative     Selective marker
Experimental details: Curated     Microarrays     In-situ hybridization

See PMP22 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for PMP22

SOURCE GeneReport for Unigene cluster: Hs.372031
    SABiosciences Expression via Pathway-Focused PCR Arrays including PMP22: 
          Cell Cycle in human mouse rat
          Multiple Sclerosis in human mouse rat
          Polycomb & Trithorax Target Genes in human mouse rat

Primer
Products:		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PMP22
Browse OriGene validated miRNA SYBR primer pairs
SABiosciences RT2 qPCR Primer Assay in human, mouse, rat PMP22
QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PMP22
QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PMP22
In Situ
Assay Products: 
 		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PMP22

Orthologs
for PMP22 gene

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section
This gene was present in the common ancestor of chordates.

Orthologs for PMP22 gene from 4/11 species (see all 11)    About this table
Organism Taxonomic
classification		 Gene Description Human
Similarity		 Orthology
Type		 Details
chicken
(Gallus gallus)		 Aves PMP221 peripheral myelin protein 22 77.99(n)
79.25(a)		   417327  XM_001231972.2  XP_001231973.1 
lizard
(Anolis carolinensis)		 Reptilia PMP226
 --
 79(a)
 1 ↔ 1
 2(106441252-106475830)
African clawed frog
(Xenopus laevis)		 Amphibia pmp22-prov2 peripheral myelin protein, 22 kDa 79.78(n)    BC041727.1 
zebrafish
(Danio rerio)		 Actinopterygii pmp222 peripheral myelin protein 22 70.25(n)   334817  BC062526.1 


ENSEMBL Gene Tree for PMP22 (if available)
TreeFam Gene Tree for PMP22 (if available) 

Paralogs
for PMP22 gene

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for PMP22 gene
EMP12  EMP22  EMP32  
3 SIMAP similar genes for PMP22 using alignment to 7 protein entries:     PMP22_HUMAN (see all proteins):
EMP1    EMP2    EMP3

PMP22 for paralogs           About GeneDecksing



Genomic Variants
for PMP22 gene

(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/689 NCBI SNPs in PMP22 are shown (see all 689)     About this table
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance		Chr 17 posSequence#AA
Chg		TypeMore#Allele
freq		PopTotal
sample		More
----------
rs289366821,2
Cpathogenic15028371(-) TCTTGC/TGGAAA 6 R W mis1 ese32Minor allele frequency- T:0.00NA 4
rs1048946241,2
Cpathogenic15028392(-) TCAGCG/TGTGTC 6 G C mis10--------
rs1048946191,2
C,F,pathogenic15028487(-) CTACAC/TGGTGA 6 T M mis12Minor allele frequency- T:0.00NA EU 5719
rs803387631,2
Cpathogenic15036948(-) GGGGG-/GCAGGT 6 G GQ fra10--------
rs1048946181,2
Cpathogenic15036994(-) TCTGTC/GTCTGT 6 S C mis10--------
rs1048946201,2
Cpathogenic15037024(-) CACCAA/TGATCC 6 K M mis10--------
rs1048946231,2
Cpathogenic15037031(-) TCCAGA/C/GCCACC 9 T P A mis10--------
rs1048946251,2
Cpathogenic15058074(-) CGTCTC/TCACGA 6 S F mis10--------
rs1048946171,2
Cpathogenic15058092(-) GGTGCC/TGGTGC 6 P L mis10--------
rs1048946221,2
Cpathogenic15058103(-) CTCCAA/CGTCGC 6 Q H mis10--------

HapMap Linkage Disequilibrium report for PMP22 (15133095 - 15168644 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for PMP22
     2 CNVs: 35432 49816
Human Gene Mutation Database (HGMD): PMP22

Locus Specific Mutation Databases (LSDB): PMP22

SABiosciences Cancer Mutation PCR Assays
1 SABiosciences qBiomarker Copy Number PCR Array containing PMP22:
Birth Defects
QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PMP22
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Disorders / Diseases
for PMP22 gene

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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PMP22 for disorders           About GeneDecksing

OMIM gene information: 601097   
OMIM disorders: 118220  145900  162500  118300  180800  
UniProtKB/Swiss-Prot: PMP22_HUMAN, Q01453
  • Defects in PMP22 are the cause of Charcot-Marie-Tooth disease type 1A (CMT1A) [MIM:118220]; also known as
    • hereditary motor and sensory neuropathy IA. CMT1A is a form of Charcot-Marie-Tooth disease, the most common inherited
    disorder of the peripheral nervous system. Charcot-Marie-Tooth disease is classified in two main groups on the basis
    of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathy or CMT1, and primary
    peripheral axonal neuropathy or CMT2. Neuropathies of the CMT1 group 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.
    CMT1A inheritance is autosomal dominant
  • Defects in PMP22 are a cause of Dejerine-Sottas syndrome (DSS) [MIM:145900]; also known as Dejerine-Sottas
    • neuropathy (DSN) or hereditary motor and sensory neuropathy III (HMSN3). DSS is a severe degenerating neuropathy of
    the demyelinating Charcot-Marie-Tooth disease category, with onset by age 2 years. DSS is characterized by motor and
    sensory neuropathy with very slow nerve conduction velocities, increased cerebrospinal fluid protein concentrations,
    hypertrophic nerve changes, delayed age of walking as well as areflexia. There are both autosomal dominant and
    autosomal recessive forms of Dejerine-Sottas syndrome
  • Defects in PMP22 are a cause of hereditary neuropathy with liability to pressure palsies (HNPP) [MIM:162500];
    • an autosomal dominant disorder characterized by transient episodes of decreased perception or peripheral nerve palsies
    after slight traction, compression or minor traumas
  • Defects in PMP22 are the cause of Charcot-Marie-Tooth disease type 1E (CMT1E) [MIM:118300]; also known as
    • Charcot-Marie-Tooth disease and deafness autosomal dominant. CMT1E is an autosomal dominant form of
    Charcot-Marie-Tooth disease characterized by the association of sensorineural hearing loss with peripheral
    demyelinating neuropathy
  • Defects in PMP22 may be a cause of inflammatory demyelinating polyneuropathy (IDP) [MIM:139393]. IDP is a
    • putative autoimmune disorder presenting in an acute (AIDP) or chronic form (CIDP). The acute form is also known as
    Guillain-Barre syndrome

    20/60 diseases for PMP22 (see all 60):    About MalaCards
    charcot-marie-tooth disease    hereditary neuropathy with liability to pressure palsies    hereditary neuropathy with liability to pressure palsy    charcot-marie-tooth disease type 1
    charcot-marie-tooth neuropathy type 1    charcot-marie-tooth neuropathy    charcot-marie-tooth neuropathy type 1a    charcot-marie-tooth disease type 1e
    charcot-marie-tooth disease type 1a    tooth disease    hereditary neuropathies    roussy-levy syndrome
    neuropathy    charcot-marie-tooth disease type 1b    keratosis follicularis spinulosa decalvans    slowed nerve conduction velocity
    guillain-barre syndrome    neuropathy, recurrent, with pressure palsies    hereditary neuralgic amyotrophy    carpal tunnel syndrome

    4 diseases from the University of Copenhagen DISEASES database for PMP22:
    Neuropathy     Myopathy     Polyneuropathy     Brachial plexus neuropathy

    10/52 Novoseek disease relationships for PMP22 gene (see all 52)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    charcot-marie-tooth disease 98.2 224 7512319 (5), 8752424 (2), 8821490 (2), 15207283 (2) (see all 99)
    hereditary neuropathy 98.1 146 12207933 (4), 15955700 (4), 14555828 (3), 9403478 (2) (see all 86)
    dejerine-sottas disease 96.1 55 10211478 (2), 10663978 (2), 9544841 (2), 7728152 (2) (see all 36)
    hereditary peripheral neuropathy 92.8 9 8757248 (1), 9672419 (1), 15635102 (1), 7693873 (1) (see all 5)
    charcot-marie-tooth neuropathy, type 1a 92.7 22 7753126 (2), 10489052 (2), 8931571 (1), 9678509 (1) (see all 13)
    neuropathy, congenital hypomyelinating 87.7 1 15625576 (1)
    sensory neuropathy 86.9 25 1552943 (1), 9678509 (1), 11355152 (1), 7745607 (1) (see all 19)
    hmsn type i 85.4 5 7541290 (1), 9408592 (1), 18090092 (1)
    paralysis 84.1 136 12207933 (4), 15955700 (4), 9403478 (2), 9703447 (2) (see all 79)
    tomaculous neuropathy 83.9 1 9169527 (1)

    GeneTests: PMP22
    Hereditary Neuropathy with Liability to Pressure Palsies
    Charcot-Marie-Tooth Neuropathy Type 1

    Genetic Association Database (GAD): PMP22
    Human Genome Epidemiology (HuGE) Navigator: PMP22 (17 documents)

    Export disorders for PMP22 gene to outside databases

    Publications
    for PMP22 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for PMP22 gene, integrated from 9 sources (see all 459):
    (articles sorted by number of sources associating them with PMP22)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene. (PubMed id 8510709)1, 2, 4, 9 Roa B.B.... Lupski J.R. (1993)
    2. Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. (PubMed id 11835375)1, 2, 4, 9 Boerkoel C.F.... Lupski J.R. (2002)
    3. Dejerine-Sottas neuropathy is associated with a de novo PMP22 mutation. (PubMed id 7728152)1, 2, 4, 9 Valentijn L.J.... Nicholson G.A. (1995)
    4. A novel point mutation in the peripheral myelin protein 22 (PMP22) gene associated with Charcot-Marie-Tooth disease type 1A. (PubMed id 9040744)1, 2, 4 Marrosu M.G....Muntoni F. (1997)
    5. Sequence of human GAS3/PMP22 full-length cDNA. (PubMed id 8482547)1, 2, 3 Edomi P.... Schneider C. (1993)
    6. Isolation and sequence determination of cDNA encoding PMP-22 (PAS-II/SR13/Gas-3) of human peripheral myelin. (PubMed id 1497668)1, 2, 3 Hayasaka K....Takada G. (1992)
    7. A case of hereditary motor and sensory neuropathy type I with a new type of peripheral myelin protein (PMP)-22 mutation. (PubMed id 8777804)1, 2, 9 Ohnishi A.... Fukushima Y. (1995)
    8. Myelin uncompaction in Charcot-Marie-Tooth neuropathy type 1A with a point mutation of peripheral myelin protein-22. (PubMed id 10489052)1, 2, 9 Fabrizi G.M.... Rizzuto N. (1999)
    9. A novel PMP22 point mutation causing HNPP phenotype: studies on nerve xenografts. (PubMed id 9748013)1, 2, 9 Sahenk Z.... Freimer M. (1998)
    10. Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies. (PubMed id 9187667)1, 2, 9 Bort S.... Palau F. (1997)

    External Searches for PMP22 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Genome Databases showing PMP22 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5376 HGNC: 9118 AceView: PMP22 Ensembl:ENSG00000109099 euGenes: HUgn5376
    ECgene: PMP22 H-InvDB: PMP22

    Other Databases showing PMP22 gene

    (According to HUGE)
    About This Section
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    Specialized Databases showing PMP22 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PMP22 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PMP22 Genetics and Cytogenetics in Oncology and Haematology
    Inherited peripheral neuropathies mutation dbhttp://www.molgen.ua.ac.be/CMTMutations/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PMP22

    Intellectual Property
    for PMP22 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    		Patent Information for PMP22 gene:
    Search GeneIP for patents involving PMP22

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