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

Gene ID: 5376, updated on 19-Jul-2021

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
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

See PMP22 in Genome Data Viewer
Location:
17p12
Exon count:
7
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (15229779..15265326, complement)
105.20201022 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 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Charcot-Marie-Tooth disease and deafness
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
Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.
GeneReviews: Not available
Guillain-Barre syndrome, familial
MedGen: C4083008 OMIM: 139393 GeneReviews: Not available
Compare labs
Hereditary liability to pressure palsies Compare labs
Integrated Genome-wide Association, Coexpression Network, and Expression Single Nucleotide Polymorphism Analysis Identifies Novel Pathway in Allergic Rhinitis.
GeneReviews: Not available
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

Pathways from PubChem

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
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in bleb assembly IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cell death 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
PubMed 
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
 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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

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_000304.4NP_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
    UniProtKB/TrEMBL
    Q6FH25
    Related
    ENSP00000308937.3, ENST00000312280.9
    Conserved Domains (1) summary
    pfam00822
    Location:1153
    PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
  2. NM_001281455.2NP_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
    UniProtKB/TrEMBL
    Q6FH25
    Related
    ENSP00000502018.1, ENST00000675819.1
    Conserved Domains (1) summary
    pfam00822
    Location:1153
    PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
  3. NM_001281456.2NP_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
    UniProtKB/TrEMBL
    Q6FH25
    Related
    ENSP00000502601.1, ENST00000676221.1
    Conserved Domains (1) summary
    pfam00822
    Location:1153
    PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
  4. NM_001330143.2NP_001317072.1  peripheral myelin protein 22 isoform 2

    Status: REVIEWED

    Source sequence(s)
    DB504971, KR259963, KR259964
    Consensus CDS
    CCDS82078.1
    UniProtKB/TrEMBL
    A8MU75
    Related
    ENSP00000494871.1, ENST00000646419.2
    Conserved Domains (1) summary
    cl21598
    Location:22106
    PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
  5. NM_153321.3NP_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
    UniProtKB/TrEMBL
    Q6FH25
    Related
    ENSP00000501804.1, ENST00000674673.1
    Conserved Domains (1) summary
    pfam00822
    Location:1153
    PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
  6. NM_153322.3NP_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
    Related
    ENSP00000501727.1, ENST00000674651.1
    Conserved Domains (1) summary
    pfam00822
    Location:1153
    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: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    15229779..15265326 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, ENST00000395936.7
    Conserved Domains (1) summary
    cl21598
    Location:22106
    PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
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