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Gene Information
Gene ID:5376
Symbol:PMP22
Full Name:peripheral myelin protein 22
Alias:CMT1A|CMT1E|DSS|GAS-3|HMSNIA|HNPP|MGC20769|Sp110
Organism:Homo sapiens (Human)
Chromosome:17
Genetic Location:17p12-p11.2
Physical Location:15073820-15109368 on NC_000017.9, complement
Gene Type:protein-coding
Orthologs:This gene has Mouse: 18858 ortholog(s) in other dataset(s).
Gene in Ethanol Study Datasets
Gene Information
Original ID1:D11428
Fold Change:2.12
Dataset Information
Name:15236863
Method:Microarray
Tissue:Prefrontal cortex
Phenotype:Alcohol dependence (AD)/Alcohol abuse/Alcoholism
Publication:Iwamoto et al. Neurosci Res. (2004) Decreased expression of NEFH and PCP4/PEP19 in the prefrontal cortex of alcoholics. PubMed
Summary:We have performed oligonucleotide microarray analysis in postmortem prefrontal cortices of alcoholics. Among about 12,000 genes represented on microarray, a total of 79 genes showed differential expression changes in alcoholics compared with control subjects, consisting of 54 up- and 25 down-regulated genes.
Gene Information
Original ID1:AA128253
Fold Change:0.68
P Value:1.00E-03
Tissue:Prefrontal cortex
Dataset Information
Name:15816859
Method:Microarray
Tissue:Prefrontal cortex and nucleus accumbens
Phenotype:Alcohol dependence (AD)/Alcohol abuse/Alcoholism
Publication:Flatscher-Bader et al. J Neurochem.(2005) Alcohol-responsive genes in the frontal cortex and nucleus accumbens of human alcoholics. PubMed
Summary:Genes with a mean fold change > 1.5 or < 0.7 were selected and annotated. Values are taken from microarray analysis and represent mean ratios of alcoholic cases compared with matched control cases(n = 6). P values were from t-test.
Gene Information
Original ID1:Hs.372031
Note:"Class II, down-regulated gene"
Dataset Information
Name:16292326
Method:Microarray
Tissue:Frontal cortex
Phenotype:Alcohol dependence (AD)/Alcohol abuse/Alcoholism
Publication:Liu et al. Neuropsychopharmacology. (2006) Patterns of gene expression in the frontal cortex discriminate alcoholic from nonalcoholic individuals. PubMed
Summary:In the present study, microarray analysis (approximately 47,000 elements) was performed on the superior frontal cortex of 27 individual human cases (14 well characterized alcoholics and 13 matched controls). A classification system was developed in which differentially expressed genes were divided into two classes. Class I genes were qualitatively different, that is, they were predominantly detected in one group but not the other. Multiple criteria were used to define Class II genes. First, only the genes detected on over 80% of the arrays in both groups. Class II were then defined as those consistently detected in both groups having absolute PLS loadings scores of >2.0 and t- probabilities of <0.05.
Gene Information
Original ID1:PMP22
Dataset Information
Name:Literature Search
Method:Literature search
Summary:We search all human protein coding gene names and the keywords Alcohol or Ethanol or Alcoholism in the title or abstract of all PUBMED publications. For those gene name less than 3 characters or search result hits more than 100, we use the full name to search again and manually check the results to reduce false positive.
Gene Information
Original ID1:AA128253
Fold Change:0.65
P Value:5.00E-03
Tissue:Nucleus accumbens
Dataset Information
Name:15816859
Method:Microarray
Tissue:Prefrontal cortex and nucleus accumbens
Phenotype:Alcohol dependence (AD)/Alcohol abuse/Alcoholism
Publication:Flatscher-Bader et al. J Neurochem.(2005) Alcohol-responsive genes in the frontal cortex and nucleus accumbens of human alcoholics. PubMed
Summary:Genes with a mean fold change > 1.5 or < 0.7 were selected and annotated. Values are taken from microarray analysis and represent mean ratios of alcoholic cases compared with matched control cases(n = 6). P values were from t-test.
Linkage Dataset
MarkerLODP valueLocation (bp)
D17S1857  16355942
Region:14355942-18355942
Phenotype:Alcoholism phenotype along with age, gender, and P300 or constraint
Name:15211641
Method:Linkage
Publication:Hill et al. Am J Med Genet B Neuropsychiatr Genet. (2004) A genome wide search for alcoholism susceptibility genes. PubMed
Summary:A total of 360 markers for 22 autosomes were spaced at an average distance of 9.4cMand genotyping performed for 330 members of these multiplex families. Extensive clinical data, personality variation, and event-related potential characteristics were available for reducing heterogeneity and detecting robust linkage signals. Multipoint linkage analysis using different analytic strategies give strong support for loci on chromosomes 1, 2, 6, 7, 10, 12, 14, 16, and 17. Thirty five markers with LOD score >2.0 at baseline using the binary alcoholism phenotype along with age, gender, and P300 or constraint (Table III). Here we listed the genes between two near markers or genes near a separate marker (within 2Mb).
Gene Refseq Sequence Annotation
mRNAProteinReference assembly Genomic
NM_000304.2NP_000295.1NC_000017.9 range: 15073820..15109368, complement
NM_153321.1NP_696996.1NC_000017.9 range: 15073820..15109368, complement
NM_153322.1NP_696997.1NC_000017.9 range: 15073820..15109368, complement
Gene Ontology (GO) Annotation
GO IDGO TermCategoryEvidence (PubMed)
GO:0005887integral to plasma membraneCellular ComponentNR
GO:0016020membraneCellular ComponentIEA
GO:0007268synaptic transmissionBiological ProcessTAS (8275092)
GO:0007422peripheral nervous system developmentBiological ProcessTAS (8275092)
GO:0007605sensory perception of soundBiological ProcessIEA
GO:0007638mechanosensory behaviorBiological ProcessIEA
GO:0008285negative regulation of cell proliferationBiological ProcessNR
Other Database Cross Links
NCBI Entrez Gene:5376
HGNC:9118
Ensembl:ENSG00000109099
MIM:601097
HPRD:03059
HuGE Navigator:5376
dbSNP:PMP22
GeneCard:PMP22
AceView:PMP22