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    PMP22 peripheral myelin protein 22 [ Homo sapiens (human) ]

    Gene ID: 5376, updated on 28-Oct-2024

    Summary

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    Official Symbol
    PMP22provided by HGNC
    Official Full Name
    peripheral myelin protein 22provided by HGNC
    Primary source
    HGNC:HGNC:9118
    See related
    Ensembl:ENSG00000109099 MIM:601097; AllianceGenome:HGNC:9118
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DSS; CIDP; GAS3; HNPP; CMT1A; CMT1E; GAS-3; Sp110; HMSNIA
    Summary
    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]
    Expression
    Broad expression in small intestine (RPKM 54.6), placenta (RPKM 43.6) and 22 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PMP22 in Genome Data Viewer
    Location:
    17p12
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (15229779..15265326, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (15135787..15171333, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (15133096..15168643, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984976 Neighboring gene uncharacterized LOC105371547 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr17:15083139-15084083 Neighboring gene uncharacterized LOC124904126 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8211 Neighboring gene uncharacterized LOC124903931 Neighboring gene microRNA 4731 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:15181646-15182845 Neighboring gene uncharacterized LOC124903932 Neighboring gene RNA, U6 small nuclear 799, pseudogene Neighboring gene tektin 3 Neighboring gene RNA, 7SL, cytoplasmic 792, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. [Detection of duplications or deletions of the PMP22 gene using real-time quantitative PCR]. Zhang FF, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2005 Oct. PMID 16215943
    2. Increased severity over generations of Charcot-Marie-Tooth disease type 1A. Steiner I, et al. J Neurol, 2008 Jun. PMID 18438698
    3. Comparison of two PCR-based molecular methods in the diagnosis of CMT 1A and HNPP diseases in Chinese. Chen SR, et al. Clin Neurol Neurosurg, 2008 May. PMID 18353535
    4. Duplication analysis in Turkish Charcot-Marie-Tooth type 1A patients using short tandem repeat markers. Koç F, et al. Int J Neurosci, 2007 Nov. PMID 17917930
    5. Purification and initiation of structural characterization of human peripheral myelin protein 22, an integral membrane protein linked to peripheral neuropathies. Mobley CK, et al. Biochemistry, 2007 Oct 2. PMID 17824619

    See all (231) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. PMP22 duplication dysregulates lipid homeostasis and plasma membrane organization in developing human Schwann cells.
      Title: PMP22 duplication dysregulates lipid homeostasis and plasma membrane organization in developing human Schwann cells.
    2. [Genetic analysis of a Chinese pedigree affected with atypical Charcot-Marie-Tooth disease type 1A due to duplication of PMP22 gene].
      Title: [Genetic analysis of a Chinese pedigree affected with atypical Charcot-Marie-Tooth disease type 1A due to duplication of PMP22 gene].
    3. Enhancing the Reliability of PMP22 Copy Number Variation Detection with an Inherited Peripheral Neuropathy Panel.
      Title: Enhancing the Reliability of PMP22 Copy Number Variation Detection with an Inherited Peripheral Neuropathy Panel.
    4. Post-transcriptional microRNA repression of PMP22 dose in severe Charcot-Marie-Tooth disease type 1.
      Title: Post-transcriptional microRNA repression of PMP22 dose in severe Charcot-Marie-Tooth disease type 1.
    5. Downregulation of PMP22 ameliorates myelin defects in iPSC-derived human organoid cultures of CMT1A.
      Title: Downregulation of PMP22 ameliorates myelin defects in iPSC-derived human organoid cultures of CMT1A.
    6. How T118M peripheral myelin protein 22 predisposes humans to Charcot-Marie-Tooth disease.
      Title: How T118M peripheral myelin protein 22 predisposes humans to Charcot-Marie-Tooth disease.
    7. Young infants with PMP22 duplication can have minor nerve conduction study abnormalities.
      Title: Young infants with PMP22 duplication can have minor nerve conduction study abnormalities.
    8. Expanding the phenotypic spectrum of Dejerine-Sottas syndrome caused by the trembler mutation.
      Title: Expanding the phenotypic spectrum of Dejerine-Sottas syndrome caused by the trembler mutation.
    9. Peripheral Myelin Protein 22 Gene Mutations in Charcot-Marie-Tooth Disease Type 1E Patients.
      Title: Peripheral Myelin Protein 22 Gene Mutations in Charcot-Marie-Tooth Disease Type 1E Patients.
    10. Dosage effects of PMP22 on nonmyelinating Schwann cells in hereditary neuropathy with liability to pressure palsies.
      Title: Dosage effects of PMP22 on nonmyelinating Schwann cells in hereditary neuropathy with liability to pressure palsies.
    Submit: New GeneRIF Correction See all GeneRIFs (137)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Charcot-Marie-Tooth disease type 1E
    MedGen: C3495591 OMIM: 118300 GeneReviews: Not available
    		Compare labs
    Charcot-Marie-Tooth disease, type IA
    MedGen: C0270911 OMIM: 118220 GeneReviews: Not available
    		Compare labs
    Dejerine-Sottas disease
    MedGen: C0011195 OMIM: 145900 GeneReviews: Not available
    		Compare labs
    Guillain-Barre syndrome, familial
    MedGen: C4083008 OMIM: 139393 GeneReviews: Not available
    		Compare labs
    Hereditary liability to pressure palsies
    MedGen: C0393814 OMIM: 162500 GeneReviews: Hereditary Neuropathy with Liability to Pressure Palsies
    		Compare labs
    Roussy-Levy syndrome
    MedGen: C0205713 OMIM: 180800 GeneReviews: Not available
    		Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2012-07-12)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2012-07-12)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

    Description
    Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.
    EBI GWAS Catalog
    Integrated Genome-wide Association, Coexpression Network, and Expression Single Nucleotide Polymorphism Analysis Identifies Novel Pathway in Allergic Rhinitis.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC20769, DKFZp686P21116

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in apoptotic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in bleb assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in chemical synaptic transmission TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in myelin assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of cell population proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of neuron projection development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in peripheral nervous system development TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in bicellular tight junction IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in compact myelin IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in synapse IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    peripheral myelin protein 22
    Names
    Charcot-Marie-Tooth neuropathy 1A (greatly reduced nerve conduction velocity, hereditary motor sensory neuropathy Ia)
    growth arrest-specific protein 3
    peripheral myelin protein 22 kDa

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007949.1 RefSeqGene

      Range
      4971..40551
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_263

    mRNA and Protein(s)

    1. NM_000304.4 → NP_000295.1  peripheral myelin protein 22 isoform 1

      See identical proteins and their annotated locations for NP_000295.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform 1. Variants 1-5 encode the same isoform (1).
      Source sequence(s)
      BQ212717, CK818720, D11428, DB504971
      Consensus CDS
      CCDS11168.1
      UniProtKB/Swiss-Prot
      Q01453, Q8WV01
      UniProtKB/TrEMBL
      B4DUL1, Q6FH25
      Related
      ENSP00000308937.3, ENST00000312280.9
      Conserved Domains (1) summary
      pfam00822
      Location:1 → 153
      PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

    2. NM_001281455.2 → NP_001268384.1  peripheral myelin protein 22 isoform 1

      See identical proteins and their annotated locations for NP_001268384.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, compared to variant 1. Variants 1-5 encode the same isoform (1).
      Source sequence(s)
      BF725606, BQ212717, BX464118, CD519144, CK818720
      Consensus CDS
      CCDS11168.1
      UniProtKB/Swiss-Prot
      Q01453, Q8WV01
      UniProtKB/TrEMBL
      B4DUL1, Q6FH25
      Related
      ENSP00000502018.1, ENST00000675819.1
      Conserved Domains (1) summary
      pfam00822
      Location:1 → 153
      PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

    3. NM_001281456.2 → NP_001268385.1  peripheral myelin protein 22 isoform 1

      See identical proteins and their annotated locations for NP_001268385.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR, compared to variant 1. Variants 1-5 encode the same isoform (1).
      Source sequence(s)
      BQ212717, BQ694106, CD519144, CK818720, DB504971
      Consensus CDS
      CCDS11168.1
      UniProtKB/Swiss-Prot
      Q01453, Q8WV01
      UniProtKB/TrEMBL
      B4DUL1, Q6FH25
      Related
      ENSP00000502601.1, ENST00000676221.1
      Conserved Domains (1) summary
      pfam00822
      Location:1 → 153
      PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

    4. NM_001330143.2 → NP_001317072.1  peripheral myelin protein 22 isoform 2

      Status: REVIEWED

      Source sequence(s)
      DB504971, KR259963, KR259964
      Consensus CDS
      CCDS82078.1
      UniProtKB/TrEMBL
      A8MU75, J3KQW0
      Related
      ENSP00000494871.1, ENST00000646419.2
      Conserved Domains (1) summary
      cl21598
      Location:22 → 106
      PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

    5. NM_153321.3 → NP_696996.1  peripheral myelin protein 22 isoform 1

      See identical proteins and their annotated locations for NP_696996.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1-5 encode the same isoform (1).
      Source sequence(s)
      BC019040
      Consensus CDS
      CCDS11168.1
      UniProtKB/Swiss-Prot
      Q01453, Q8WV01
      UniProtKB/TrEMBL
      B4DUL1, Q6FH25
      Related
      ENSP00000501804.1, ENST00000674673.1
      Conserved Domains (1) summary
      pfam00822
      Location:1 → 153
      PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

    6. NM_153322.3 → NP_696997.1  peripheral myelin protein 22 isoform 1

      See identical proteins and their annotated locations for NP_696997.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1-5 encode the same isoform (1).
      Source sequence(s)
      BG424796, DV460945, HY119295, M94048
      Consensus CDS
      CCDS11168.1
      UniProtKB/Swiss-Prot
      Q01453, Q8WV01
      UniProtKB/TrEMBL
      B4DUL1, Q6FH25
      Related
      ENSP00000501727.1, ENST00000674651.1
      Conserved Domains (1) summary
      pfam00822
      Location:1 → 153
      PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

    RNA

    1. NR_104017.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks an alternate internal exon, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.
      Source sequence(s)
      BQ212717, BQ232542, CK818720, DB466564, DB504971
      Related
      ENST00000580584.3

    2. NR_104018.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) lacks two alternate internal exons, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.
      Source sequence(s)
      BQ212717, CK818720, DB504971, HY099893
      Related
      ENST00000494511.7

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      15229779..15265326 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047436306.1 → XP_047292262.1  peripheral myelin protein 22 isoform X1

      UniProtKB/TrEMBL
      A0A2R8Y5L5
      Related
      ENSP00000494628.1, ENST00000643451.2

    2. XM_024450806.2 → XP_024306574.1  peripheral myelin protein 22 isoform X2

      UniProtKB/TrEMBL
      A8MU75, J3KQW0
      Related
      ENSP00000379268.1, ENST00000395936.7
      Conserved Domains (1) summary
      cl21598
      Location:22 → 106
      PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      15135787..15171333 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054316516.1 → XP_054172491.1  peripheral myelin protein 22 isoform X1

      UniProtKB/TrEMBL
      A0A2R8Y5L5

    2. XM_054316517.1 → XP_054172492.1  peripheral myelin protein 22 isoform X2

      UniProtKB/TrEMBL
      A8MU75
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q01453.1 GenPept UniProtKB/Swiss-Prot:Q01453

    Gene LinkOut

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