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PMP22 Gene

protein-coding   GIFtS: 65
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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 charcot-marie-tooth neuropathy type 1a, and charcot-marie-tooth neuropathy type 1. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000017.11  NC_018928.2  NT_010718.17  
Regulatory elements:
   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 Chromatin IP Primers for PMP22

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: PMP22_HUMAN, Q01453 (See protein sequence)
Recommended Name: Peripheral myelin protein 22  
Size: 160 amino acids; 17891 Da
Secondary accessions: Q8WV01

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

Post-translational modifications: 

  • Glycosylation2 at Asn41
  • 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  

    PMP22 Human Recombinant Protein Products:

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    Novus Biologicals PMP22 Proteins
    Novus Biologicals PMP22 Lysates
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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for PMP22

    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

    PMP22 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    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)
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    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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    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 

         10 MGI mutant phenotypes (inferred from 10 alleles(MGI details for Pmp22):
     behavior/neurological  cellular  growth/size/body  hearing/vestibular/ear  limbs/digits/tail 
     mortality/aging  muscle  nervous system  reproductive system  vision/eye 

    PMP22 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Pmp22tm1Ueli for PMP22

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PMP22
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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
    Products:
        
    miRTarBase miRNAs that target PMP22:
    hsa-mir-26b-5p (MIRT029747), hsa-mir-122-5p (MIRT023386)

    Block miRNA regulation of human, mouse, rat PMP22 using miScript Target Protectors
    Selected qRT-PCR 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:
        
    OriGene RNAi products in human, mouse, rat for PMP22
    Predesigned siRNA for gene silencing in human, mouse, rat PMP22

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

    Clone
    Products:
         
    OriGene clones in human, mouse for PMP22 (see all 19)
    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

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for PMP22
    Browse ESI BIO Cell Lines and PureStem Progenitors for PMP22 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PMP22


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PMP22_HUMAN, Q01453: Cell membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytoskeleton2
    endoplasmic reticulum2
    extracellular1

    Gene Ontology (GO): 4 cellular component terms:    About this table

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

    PMP22 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    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



        Pathway & Disease-focused RT2 Profiler PCR Arrays including PMP22: 
              Cell Cycle in human mouse rat
              Multiple Sclerosis in human mouse rat
              Polycomb & Trithorax Target Genes in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for PMP22

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

    Selected 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): Selected biological process terms (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, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PMP22

    Selected 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)



    PMP22 for compounds           About GeneDecksing



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    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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    Block miRNA regulation of human, mouse, rat PMP22 using miScript Target Protectors
    Selected qRT-PCR 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
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    OriGene RNAi products in human, mouse, rat for PMP22
    Predesigned siRNA for gene silencing in human, mouse, rat PMP22
    Clone
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    OriGene clones in human, mouse for PMP22 (see all 19)
    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
    Primer
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    OriGene qPCR primer pairs and template standards for PMP22
    OriGene qSTAR qPCR primer pairs in human, mouse for PMP22
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PMP22
      QuantiTect SYBR Green Assays in human, mouse, rat PMP22
      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 

    Selected AceView cDNA sequences (see all 518):

    BQ020007 AA447860 AA243132 AA025711 BQ718807 CR621373 BM997649 AI126521 
    BQ638617 AA470407 AA447704 AA218622 AA133447 CR615858 BU145874 CR541931 
    BU157708 W96388 CR597311 BM673822 AV725345 BQ878709 AA009739 CR615033 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    PMP22 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 16) fully expand
     
     Peripheral Nervous System (Nervous System)    fully expand to see all 7 entries
             Myelinating Schwann Cells Peripheral Nerve Domain
             Schwann cells
             Schwann-like cells
     
     Schwann Cells (Nervous System)    fully expand to see all 4 entries
             Schwann cells
             Schwann-like cells
     
     Brain (Nervous System)    fully expand to see all 9 entries
             Cerebral Cortex
             N2/LSB/S/F8-induced cells
     
     Heart (Cardiovascular System)    fully expand to see all 3 entries
             Cardiac Crescent Cells Cardiac Crescent
             Heart Tube
     
     Gonad
             Primordial Germ Cells Allantois
             Primordial germ cell-like cells
    PMP22 Protein expression data from MOPED1, PaxDb2 and MaxQB3 --

    SOURCE GeneReport for Unigene cluster: Hs.372031
        Pathway & Disease-focused RT2 Profiler 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
    OriGene qSTAR qPCR primer pairs in human, mouse for PMP22
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PMP22
    QuantiTect SYBR Green Assays in human, mouse, rat PMP22
    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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for PMP22 gene from Selected 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 88.01(n)1
    87.05(a)1
      11 (38.99 cM)5
    188581  NM_008885.21  NP_032911.11 
     631289825 
    chicken
    (Gallus gallus)
    Aves PMP221 peripheral myelin protein 22 78.26(n)
    78.26(a)
      417327  NM_001277072.1  NP_001264001.1 
    lizard
    (Anolis carolinensis)
    Reptilia PMP226
    peripheral myelin protein 22
    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)
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    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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PMP22 (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
    ----------
    rs289366821,2,,4
    CDejerine-Sottas syndrome (DSS)4 pathogenic115121469(-) TCTTGC/TGGAAA 6 R W mis1 ese30--------
    rs1048946191,2,,4
    C,FCharcot-Marie-Tooth disease 1A (CMT1A)4 pathogenic115121585(-) CTACAC/TGGTGA 6 T M mis12Minor allele frequency- T:0.00NA EU 5719
    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--------

    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

    Site Specific Mutation Identification with PCR Assays
    1 Copy Number PCR Panel 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 601097   
    OMIM disorders: 118220  145900  162500  118300  180800  139393  
    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

  • Selected diseases for PMP22 (see all 65):    
    About MalaCards
    charcot-marie-tooth neuropathy type 1a    charcot-marie-tooth neuropathy type 1    polyradiculoneuropathy    hereditary neuropathies
    charcot-marie-tooth neuropathy type 1e    hereditary neuropathy with liability to pressure palsies    hereditary neuropathy with liability to pressure palsy    carpal tunnel syndrome
    mononeuropathy    brachial plexus lesion    neuropathy, recurrent, with pressure palsies    charcot-marie-tooth disease type 1e
    inherited peripheral neuropathy    neuropathy, inflammatory demyelinating    charcot-marie-tooth disease    foot drop
    charcot-marie-tooth disease type 1    charcot-marie-tooth disease type 1a    sensory neuropathy type 1    chronic inflammatory demyelinating polyradiculoneuropathy

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

    PMP22 for disorders           About GeneDecksing

    Selected 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

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    PubMed articles for PMP22 gene, integrated from 10 sources (see all 472):
    (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. (N. Engl. J. Med. 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. (Ann. Neurol. 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. (Hum. Mutat. 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. (Neurology 1997)
    5. Sequence of human GAS3/PMP22 full-length cDNA. (PubMed id 8482547)1, 2, 3 Edomi P.... Schneider C. (Gene 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. (Biochem. Biophys. Res. Commun. 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. (Rinsho Shinkeigaku 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. (Neurology 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. (Eur. J. Hum. Genet. 2009)
    10. A novel PMP22 point mutation causing HNPP phenotype: studies on nerve xenografts. (PubMed id 9748013)1, 2, 9 Sahenk Z.... Freimer M. (Neurology 1998)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 5376 HGNC: 9118 AceView: PMP22 Ensembl:ENSG00000109099 euGenes: HUgn5376
    ECgene: PMP22 H-InvDB: PMP22

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    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/books/NBK1116/?term=PMP22[genesymbol]

    (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

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



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