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Cancer Genome Characterization Initiative

Visit the database of genomic characterization data for multiple tumor types.


Gene Info

Gene Information For:Hs. PMP22, peripheral myelin protein 22
Sequence ID:NM_000304
NM_153321
NM_153322
RefSeqGene ID:NG_007949
Entrez Gene ID:5376
Ensembl ID:ENSG00000109099

Database Links

UniGeneEntrez GeneOMIMEnsembl GeneHPRDVegaDTPSNPSNP: GeneViewSNP: VarViewAssembliesCancer AberrationsRNAi

Gene Expression Data

  • This gene is found in these cDNA libraries from the following tissue types:
    adrenal cortex, bone, bone marrow, brain, cartilage, cerebrum, cervix, colon, ear, embryonic tissue, endocrine, eye, fetus, gastrointestinal tract, heart, kidney, liver, lung, lymphoreticular, mammary gland, muscle, nervous, ovary, pancreas, pancreatic islet, parathyroid, peripheral nervous system, pineal gland, pituitary gland, placenta, pooled tissue, prostate, retina, skin, soft tissue, stem cell, stomach, t-cell, testis, thymus, thyroid, uncharacterized tissue, uterus
  • SAGE Anatomic Viewer
  • SAGE Digital Northern

  • Monochromatic SAGE/cDNA Virtual Northern

  • Two-dimensional array displays (similar expression pattern in NCI60 microarray data or SAGE data)

Associated Diseases (from OMIM)

DiseaseOther Genes
CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A 
CHARCOT-MARIE-TOOTH DISEASE, TYPE 1E 
DEJERINE-SOTTASDISEASEEGR2
MPZ
PRX
NEUROPATHY, INFLAMMATORY DEMYELINATING 
NEUROPATHY, RECURRENT, WITH PRESSURE PALSIES 
ROUSSY-LEVY SYNDROMEMPZ

Cytogenetic Location (from UniGene)

Cytogenetic Location:17p12Mitelman Breakpoint Data

Chromosomal Position (from UCSC)

Chromosomal Position:17: 15133807 - 15165861

 Exon Info From UCSC:
NM_000304
NM_153321
NM_153322

Full-Length MGC Clones for This Gene

IMAGE IdStatusAccession GenBank Def Line
4588473Full LengthBC019040peripheral myelin protein 22
30395315Full LengthBC091499peripheral myelin protein 22

Protein Similarities Based on Shared Motif Content

Find gene products sharing protein motifs with:  NP_000295  NP_696997  NP_696996  

Protein Infomation

RefSeq
mRNAProteinSwissProtPfam
NM_000304 NP_000295 Q6FH25
Q01453
PMP22_Claudin
NM_153321 NP_696996 Q6FH25
Q01453
PMP22_Claudin
NM_153322 NP_696997 Q6FH25
Q01453
PMP22_Claudin

Related Sequences

 
mRNAGenPeptSwissProt
M94048 AAA36457 Q6FH25
Q01453
L03203 AAA58495 Q6FH25
Q01453
BC019040 AAH19040 Q6FH25
Q01453
BC091499 AAH91499 Q6FH25
Q01453
DQ892623 ABM83549  
DQ895863 ABM86789  
D11428 BAA01995 Q6FH25
Q01453
AK290640 BAF83329 Q6FH25
AK300690 BAG62373 B4DUL1
X65968 CAA46781 Q01453
CR541931 CAG46729 Q6FH25
Q01453
CR541953 CAG46751 Q6FH25
Q01453

Homologs (from HomoloGene)
Note: Both orthologs and paralogs are included.
Organism Symbol Protein Homolog Similarity
(% aa unchanged)
Organism Symbol Entrez
Gene
Gene Info Protein
H.sapiens PMP22 NP_696996 R.norvegicus Pmp22 24660   NP_058733 86
M.musculus Pmp22 18858 Gene Info NP_032911 86

Gene Ontology
Gene classification by the European Bioinformatics Institute, as recorded in GOA (GO Annotation@EBI)