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

Gene ID: 5376, updated on 5-Aug-2018

Summary

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]
Expression
Broad expression in small intestine (RPKM 54.6), placenta (RPKM 43.6) and 22 other tissues See more
Orthologs

Genomic context

See PMP22 in Genome Data Viewer
Location:
17p12
Exon count:
7
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (15229777..15265373, 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

Genomic regions, transcripts, and products

Expression

  • 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

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

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

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 
myelin assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
myelination IBA
Inferred from Biological aspect of Ancestor
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
peripheral myelin protein 22
Names
growth arrest-specific protein 3
peripheral myelin protein 22 kDa

NCBI Reference Sequences (RefSeq)

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, ENST00000312280.8, 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
    Related
    ENSP00000494871.1, ENST00000646419.1
    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 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

    Range
    15229777..15265373 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024450806.1XP_024306574.1  peripheral myelin protein 22 isoform X1

    Related
    ENSP00000379268.1, ENST00000395936.6
    Conserved Domains (1) summary
    cl21598
    Location:22106
    PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
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