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

Gene ID: 5376, updated on 2-Nov-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
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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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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
not available
Charcot-Marie-Tooth disease, type IA
MedGen: C0270911 OMIM: 118220 GeneReviews: Not available
not available
Dejerine-Sottas disease
MedGen: C0011195 OMIM: 145900 GeneReviews: Not available
not available
Guillain-Barre syndrome, familial
MedGen: C4083008 OMIM: 139393 GeneReviews: Not available
not available
Hereditary liability to pressure palsies
MedGen: C0393814 OMIM: 162500 GeneReviews: Hereditary Neuropathy with Liability to Pressure Palsies
not available
Roussy-Levy syndrome
MedGen: C0205713 OMIM: 180800 GeneReviews: Not available
not available

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)

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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