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

Gene ID: 5376, updated on 19-Jul-2014
Official Symbol
PMP22provided by HGNC
Official Full Name
peripheral myelin protein 22provided by HGNC
Primary source
HGNC:9118
See related
Ensembl:ENSG00000109099; HPRD:03059; 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; 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]
See PMP22 in Epigenomics, MapViewer
Location:
17p12
Exon count:
6
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 LOC101928475 Neighboring gene CMT1A duplicated region transcript 7 (non-protein coding) Neighboring gene CMT1A duplicated region transcript 8 Neighboring gene microRNA 4731 Neighboring gene tektin 3 Neighboring gene TVP23C-CDRT4 readthrough Neighboring gene ribosomal protein L9 pseudogene 2 Neighboring gene CMT1A duplicated region transcript 4

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Copy number response

Description
Copy number response
Triplosensitivity

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

ISCA Genome Curation Page
Haploinsufficency

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

ISCA Genome Curation PagePubMed

NHGRI GWAS Catalog

Description
Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.
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
cell death IEA
Inferred from Electronic Annotation
more info
 
myelin assembly 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 
synaptic transmission TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
compact myelin IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 
tight junction IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
peripheral myelin protein 22
Names
peripheral myelin protein 22
growth arrest-specific protein 3

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 

    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

    See proteins identical to NP_000295.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the functional protein. Variants 1, 2, 3 ,4, and 5 encode the same protein.
    Source sequence(s)
    BQ212717, CK818720, D11428, DB504971, DV460945
    Consensus CDS
    CCDS11168.1
    UniProtKB/Swiss-Prot
    Q01453
    UniProtKB/TrEMBL
    Q6FH25
    Related
    ENSP00000308937, OTTHUMP00000064923, ENST00000312280, OTTHUMT00000130379
    Conserved Domains (1) summary
    pfam00822
    Location:1153
    Blast Score: 386
    PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
  2. NM_001281455.1NP_001268384.1  peripheral myelin protein 22

    See proteins identical to NP_001268384.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, compared to variant 1. Variants 1, 2, 3 ,4, and 5 encode the same protein.
    Source sequence(s)
    BF725606, BQ212717, BX464118, CD519144, CK818720, DV460945
    Consensus CDS
    CCDS11168.1
    UniProtKB/Swiss-Prot
    Q01453
    UniProtKB/TrEMBL
    Q6FH25
    Conserved Domains (1) summary
    pfam00822
    Location:1153
    Blast Score: 386
    PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
  3. NM_001281456.1NP_001268385.1  peripheral myelin protein 22

    See proteins identical to NP_001268385.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR, compared to variant 1. Variants 1, 2, 3 ,4, and 5 encode the same protein.
    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
    Blast Score: 386
    PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
  4. NM_153321.2NP_696996.1  peripheral myelin protein 22

    See proteins identical to NP_696996.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1, 2, 3 ,4, and 5 encode the same protein.
    Source sequence(s)
    BC019040, BX464118, DV460945
    Consensus CDS
    CCDS11168.1
    UniProtKB/Swiss-Prot
    Q01453
    UniProtKB/TrEMBL
    Q6FH25
    Related
    ENSP00000379269, OTTHUMP00000064922, ENST00000395938, OTTHUMT00000130378
    Conserved Domains (1) summary
    pfam00822
    Location:1153
    Blast Score: 386
    PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
  5. NM_153322.2NP_696997.1  peripheral myelin protein 22

    See proteins identical to NP_696997.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1, 2, 3 ,4, and 5 encode the same protein.
    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
    Blast Score: 386
    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 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000017.11 

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

Alternate HuRef

Genomic

  1. AC_000149.1 

    Range
    15027217..15062782
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018928.2 

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