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

    Gene ID: 5376, updated on 6-Jun-2017
    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; Vega:OTTHUMG00000058960
    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]
    Orthologs
    Location:
    17p12
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 17 NC_000017.11 (15229777..15265357, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (15133094..15168674, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984976 Neighboring gene uncharacterized LOC105371547 Neighboring gene microRNA 4731 Neighboring gene RNA, U6 small nuclear 799, pseudogene Neighboring gene tektin 3 Neighboring gene RNA, 7SL, cytoplasmic 792, pseudogene

    • Project title: 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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

    NHGRI GWAS Catalog

    Description
    Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.
    NHGRI GWA Catalog
    Integrated Genome-wide Association, Coexpression Network, and Expression Single Nucleotide Polymorphism Analysis Identifies Novel Pathway in Allergic Rhinitis.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC20769, DKFZp686P21116

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    bleb assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell death IDA
    Inferred from Direct Assay
    more info
    PubMed 
    chemical synaptic transmission TAS
    Traceable Author Statement
    more info
    PubMed 
    myelination IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of neuron projection development IEA
    Inferred from Electronic Annotation
    more info
     
    peripheral nervous system development TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    bicellular tight junction IEA
    Inferred from Electronic Annotation
    more info
     
    compact myelin IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    peripheral myelin protein 22
    Names
    growth arrest-specific protein 3
    peripheral myelin protein 22 kDa

    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_000304.3NP_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, DV460945
      Consensus CDS
      CCDS11168.1
      UniProtKB/Swiss-Prot
      Q01453
      UniProtKB/TrEMBL
      Q6FH25
      Related
      ENSP00000308937.3, OTTHUMP00000064923, ENST00000312280.7, OTTHUMT00000130379
      Conserved Domains (1) summary
      pfam00822
      Location:1153
      PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
    2. NM_001281455.1NP_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, DV460945
      Consensus CDS
      CCDS11168.1
      UniProtKB/Swiss-Prot
      Q01453
      UniProtKB/TrEMBL
      Q6FH25
      Related
      ENSP00000484631.1, ENST00000612492.4
      Conserved Domains (1) summary
      pfam00822
      Location:1153
      PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
    3. NM_001281456.1NP_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, DV460945
      Consensus CDS
      CCDS11168.1
      UniProtKB/Swiss-Prot
      Q01453
      UniProtKB/TrEMBL
      Q6FH25
      Conserved Domains (1) summary
      pfam00822
      Location:1153
      PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
    4. NM_001330143.1NP_001317072.1  peripheral myelin protein 22 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC005703, DB504971, KR259963, KR259964
      Consensus CDS
      CCDS82078.1
      UniProtKB/TrEMBL
      A8MU75
      Conserved Domains (1) summary
      cl21598
      Location:22106
      PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
    5. NM_153321.2NP_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, BX464118, DV460945
      Consensus CDS
      CCDS11168.1
      UniProtKB/Swiss-Prot
      Q01453
      UniProtKB/TrEMBL
      Q6FH25
      Related
      ENSP00000379269.2, OTTHUMP00000064922, ENST00000395938.6, OTTHUMT00000130378
      Conserved Domains (1) summary
      pfam00822
      Location:1153
      PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
    6. NM_153322.2NP_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
      UniProtKB/TrEMBL
      Q6FH25
      Conserved Domains (1) summary
      pfam00822
      Location:1153
      PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

    RNA

    1. NR_104017.1 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, DV460945
    2. NR_104018.1 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, DV460945, HY099893

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p7 Primary Assembly

      Range
      15229777..15265357 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017024775.1XP_016880264.1  peripheral myelin protein 22 isoform X1

    2. XM_017024776.1XP_016880265.1  peripheral myelin protein 22 isoform X2

      Related
      ENSP00000379268.1, OTTHUMP00000064924, ENST00000395936.5, OTTHUMT00000130380
      Conserved Domains (1) summary
      cl21598
      Location:22106
      PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

    Alternate CHM1_1.1

    Genomic

    1. NC_018928.2 Alternate CHM1_1.1

      Range
      15141853..15177435 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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