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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

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Peripheral Myelin Protein 221 2     HMSNIA2
Growth Arrest-Specific Protein 32 3     HNPP2
GAS-32 3     Sp1102
CMT1A2 5     GAS33
CMT1E2 5     PMP-223
DSS2 5     

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


(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 Gene:
This gene encodes an integral membrane protein that is a major component of myelin in the peripheral nervous
system. Studies suggest two alternately used promoters drive tissue-specific expression. 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 results in multiple transcript variants. (provided by
RefSeq, Jul 2013)

GeneCards Summary for PMP22 Gene: 
PMP22 (peripheral myelin protein 22) is a protein-coding gene. Diseases associated with PMP22 include hereditary neuropathies, and hereditary neuropathy with liability to pressure palsies. GO annotations related to this gene include protein binding. An important paralog of this gene is EMP1.

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) 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.2  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

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for PMP22 at MOPED 

PMP22 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

PMP22 Protein Expression

REFSEQ proteins (5 alternative transcripts): 
NP_000295.1  NP_001268384.1  NP_001268385.1  NP_696996.1  NP_696997.1  

ENSEMBL proteins: 
 ENSP00000379269   ENSP00000308937   ENSP00000462782   ENSP00000379268   ENSP00000464468  
 ENSP00000409824  

Human Recombinant Protein Products for PMP22: 
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OriGene Protein Over-expression Lysate for PMP22
OriGene MassSpec for 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 Sino Biological Cell Lysates 
Browse ProSpec Recombinant Proteins
Cloud-Clone Corp. 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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Abcam antibodies for PMP22
Cloud-Clone Corp. Antibodies for PMP22 
ThermoFisher Antibodies for PMP22
LSBio Antibodies in human, mouse, rat for PMP22 

Assay Products for PMP22: 
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GenScript Custom Assay Services for PMP22
Browse Enzo Life Sciences for kits & assays
Cloud-Clone Corp. ELISAs for PMP22 
Cloud-Clone Corp. CLIAs for PMP22


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
3 InterPro protein domains:
 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 domains:
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


PMP22 for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

     UniProtKB/Swiss-Prot Summary: 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

     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


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

     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

Animal Models:
     MGI mouse knock-out Pmp22tm1Ueli for PMP22

   inGenious Targeting Laboratory - Custom generated mouse model solutions for PMP22 
   inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for PMP22

   genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PMP22 
   genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PMP22 

miRNA
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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 plasmidPMP22 3' UTR sequence
Inhib. RNA
Products:
    
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QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PMP22

Gene Editing
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Sirion Biotech Customized adenovirus for overexpression of PMP22

Clone
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OriGene ORF clones in mouse, rat for PMP22
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)
Sino Biological Human cDNA Clone for PMP22
DNA2.0 Custom Codon Optimized Gene Synthesis Service for PMP22
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PMP22
Sirion Biotech Customized lentivirus for stable overexpression of PMP22 
                     Customized lentivirus expression plasmids for stable overexpression of PMP22 

Cell Line
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GenScript Custom overexpressing Cell Line Services for PMP22
Search LifeMap BioReagents cell lines for PMP22
In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PMP22


(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
About This Section

SuperPaths for PMP22 About                                                                                                See pathways by source

SuperPathContained pathways About
1Neural Crest Differentiation
Neural Crest Differentiation
2a6b1 and a6b4 Integrin signaling
a6b1 and a6b4 Integrin signaling


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



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 inferred 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

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for PMP22 gene (5 alternative transcripts): 
NM_000304.3  NM_001281455.1  NM_001281456.1  NM_153321.2  NM_153322.2  

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
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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 plasmidPMP22 3' UTR sequence
Inhib. RNA
Products:
     
Browse for Gene Knock-down Tools from EMD Millipore
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QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PMP22
Clone
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OriGene clones in human, mouse for PMP22 (see all 17)
OriGene ORF clones in mouse, rat for PMP22
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
Sirion Biotech Customized lentivirus for stable overexpression of PMP22 
                     Customized lentivirus expression plasmids for stable overexpression of PMP22 
Primer
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OriGene qPCR primer pairs and template standards for PMP22
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  QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PMP22
  QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PMP22

Additional mRNA 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):

CR611595 BM678503 CR618437 AA447860 BQ019972 AI280403 BC019040 BU150735 
AI128017 BF724099 AA058940 BF725606 AA455796 BF448833 BQ718802 CR591190 
NM_000304 H89348 AV656474 CR604692 CR593633 BQ694106 BQ718807 CR602788 

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

(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)      PMP22 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: ATCCTGTCGA
PMP22 Expression
About this image


PMP22 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database 
 5/25 selected tissues (see all 25) fully expand
 
 Brain (Nervous System)    fully expand to see all 19 entries
         Thalamus
         N2/LSB/S/F8-induced cells ( Generation of midbrain dopaminergic, forebrain and hypothalamic...
         Trigeminal Ganglion   
 
 Peripheral Nervous System (Nervous System)    fully expand to see all 7 entries
         Myelinating Schwann Cells Peripheral Nerve Domain
         Schwann cells
         PERIPHERAL NERVOUS SYSTEM   
 
 Heart (Cardiovascular System)    fully expand to see all 3 entries
         Cardiac Crescent Cells Cardiac Crescent
         Atrioventricular Node
 
 Spinal Cord (Nervous System)    fully expand to see all 3 entries
         Superior Cervical Ganglion   
 
 Fibroblast
         Human Pulmonary Fibroblasts (HPF)   

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 qPCR primer pairs and template standards for PMP22
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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 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 5/11 species (see all 11)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Pmp221 , 5 peripheral myelin protein 221, 5 86.87(n)1
86.25(a)1
  11 (38.99 cM)5
188581  NM_008885.21  NP_032911.11 
 631289825 
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
Uncharacterized protein
79(a)
1 ↔ 1
2(106438156-106478264)
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 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



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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

10/867 SNPs in PMP22 are shown (see all 867)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 17 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
VAR_0299674
Dejerine-Sottas syndrome (DSS)4--see VAR_0299672 L R mis40--------
VAR_0063654
Dejerine-Sottas syndrome (DSS)4--see VAR_0063652 S W mis40--------
VAR_0063644
Dejerine-Sottas syndrome (DSS)4--see VAR_0063642 S P mis40--------
VAR_0299644
Charcot-Marie-Tooth disease 1A (CMT1A)4--see VAR_0299642 V F mis40--------
VAR_0299684
Dejerine-Sottas syndrome (DSS)4--see VAR_0299682 C R mis40--------
VAR_0096614
Charcot-Marie-Tooth disease 1E (CMT1E)4--see VAR_0096612 A P mis40--------
VAR_0299634
Charcot-Marie-Tooth disease 1E (CMT1E)4--see VAR_0299632 W R mis40--------
VAR_0299604
Hereditary neuropathy with liability to pressure palsies (HNPP)4--see VAR_0299602 S F mis40--------
VAR_0063784
Dejerine-Sottas syndrome (DSS)4--see VAR_0063782 G C mis40--------
VAR_0063734
Dejerine-Sottas syndrome (DSS)4--see VAR_0063732 L R mis40--------

HapMap Linkage Disequilibrium report for PMP22 (15133095 - 15168644 bp)

Structural Variations
     Database of Genomic Variants (DGV) 1 variation for PMP22:    About this table     
Variant IDTypeSubtypePubMed ID
nsv1991CNV Insertion18451855


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
SeqTarget long-range PCR primers for resequencing PMP22
DNA2.0 Custom Variant and Variant Library Synthesis for PMP22

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
OMIM gene information: 601097   
OMIM disorders: 118220  145900  162500  118300  180800  
UniProtKB/Swiss-Prot: PMP22_HUMAN, Q01453
  • Charcot-Marie-Tooth disease 1A (CMT1A) [MIM:118220]: A 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.
    Note=The disease is caused by mutations affecting the gene represented in this entry
  • Dejerine-Sottas syndrome (DSS) [MIM:145900]: A severe degenerating neuropathy of the demyelinating
    Charcot-Marie-Tooth disease category, with onset by age 2 years. 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. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Hereditary neuropathy with liability to pressure palsies (HNPP) [MIM:162500]: A neurologic disorder
    characterized by transient episodes of decreased perception or peripheral nerve palsies after slight traction,
    compression or minor traumas. Note=The disease is caused by mutations affecting the gene represented in this
    entry
  • Charcot-Marie-Tooth disease 1E (CMT1E) [MIM:118300]: An autosomal dominant form of Charcot-Marie-Tooth
    disease characterized by the association of sensorineural hearing loss with peripheral demyelinating neuropathy.
    Note=The disease is caused by mutations affecting the gene represented in this entry
  • Inflammatory demyelinating polyneuropathy (IDP) [MIM:139393]: Putative autoimmune disorder presenting in
    an acute (AIDP) or chronic form (CIDP). The acute form is also known as Guillain-Barre syndrome. Note=The disease
    may be caused by mutations affecting the gene represented in this entry

  • 20/61 diseases for PMP22 (see all 61):    About MalaCards
    hereditary neuropathies    hereditary neuropathy with liability to pressure palsies    hereditary neuropathy with liability to pressure palsy    charcot-marie-tooth disease type 1a
    charcot-marie-tooth neuropathy type 1a    polyradiculoneuropathy    guillain-barre syndrome    charcot-marie-tooth neuropathy type 1e
    neuropathy, recurrent, with pressure palsies    charcot-marie-tooth disease type 1e    charcot-marie-tooth disease    carpal tunnel syndrome
    mononeuropathy    brachial plexus lesion    charcot-marie-tooth disease type 1b    foot drop
    charcot-marie-tooth disease type 1    charcot-marie-tooth neuropathy type 1    inherited peripheral neuropathy    sensory neuropathy type 1

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

    PMP22 for disorders           About GeneDecksing

    10/52 Novoseek inferred 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
    GeneReviews: PMP22
    Genetic Association Database (GAD): PMP22
    Human Genome Epidemiology (HuGE) Navigator: PMP22 (17 documents)

    Export disorders for PMP22 gene to outside databases

    (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 466):
    (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. Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations. (PubMed id 19259128)1, 4, 9 Miltenberger-Miltenyi G....Janecke A.R. (2009)
    10. A novel PMP22 point mutation causing HNPP phenotype: studies on nerve xenografts. (PubMed id 9748013)1, 2, 9 Sahenk Z.... Freimer M. (1998)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    (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

    (According to HUGE)
    About This Section
      --

    (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

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

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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