Pmp22 (peripheral myelin protein 22) - Rat Genome Database

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Gene: Pmp22 (peripheral myelin protein 22) Rattus norvegicus
Analyze
Symbol: Pmp22
Name: peripheral myelin protein 22
RGD ID: 3359
Description: Predicted to enable cytoskeletal motor activity. Involved in several processes, including myelination; negative regulation of cell population proliferation; and negative regulation of neuron projection development. Located in bicellular tight junction and compact myelin. Biomarker of sciatic neuropathy. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease (multiple); Guillain-Barre syndrome; and hereditary neuropathy with liability to pressure palsies. Orthologous to human PMP22 (peripheral myelin protein 22); INTERACTS WITH (20S)-20-hydroxypregn-4-en-3-one; 17alpha-ethynylestradiol; 17beta-estradiol.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: Gas-3; peripheral myelin protein; PMP-22; SAG; schwann cell membrane glycoprotein; SR13 myelin protein
RGD Orthologs
Human
Mouse
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: mRatBN7.2 - mRatBN7.2 Assembly
Position:
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81048,294,932 - 48,324,941 (+)NCBIGRCr8
mRatBN7.21047,795,709 - 47,825,715 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1047,795,709 - 47,825,714 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1052,499,025 - 52,528,991 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01051,989,555 - 52,019,509 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01047,492,979 - 47,522,935 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01049,538,588 - 49,568,583 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1049,538,588 - 49,568,583 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01049,317,000 - 49,346,995 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41049,305,835 - 49,335,864 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11049,319,457 - 49,349,487 (+)NCBI
Celera1047,038,544 - 47,068,443 (+)NCBICelera
Cytogenetic Map10q23NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (ISO)
(20S)-20-hydroxypregn-4-en-3-one  (EXP)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (EXP)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (EXP)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3,3',5-triiodo-L-thyronine  (ISO)
3,4-methylenedioxymethamphetamine  (EXP)
3-isobutyl-1-methyl-7H-xanthine  (ISO)
3-Nitrobenzanthrone  (ISO)
3alpha-hydroxy-5beta-pregnan-20-one  (EXP)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-aminolevulinic acid  (EXP)
5-aza-2'-deoxycytidine  (ISO)
6-propyl-2-thiouracil  (EXP)
afimoxifene  (ISO)
all-trans-retinoic acid  (ISO)
alpha-Zearalanol  (EXP)
ammonium chloride  (EXP)
arsane  (ISO)
arsenic atom  (ISO)
atrazine  (ISO)
benzo[a]pyrene  (ISO)
benzo[b]fluoranthene  (ISO)
beta-lapachone  (ISO)
beta-naphthoflavone  (EXP)
bilirubin IXalpha  (ISO)
bis(2-chloroethyl) sulfide  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bucladesine  (ISO)
cadmium dichloride  (EXP)
carbon nanotube  (ISO)
casticin  (ISO)
choline  (ISO)
chromium(6+)  (ISO)
chrysene  (ISO)
cisplatin  (ISO)
coumestrol  (ISO)
cyclosporin A  (ISO)
cytarabine  (ISO)
DDE  (ISO)
desferrioxamine B  (ISO)
dexamethasone  (ISO)
diallyl disulfide  (EXP,ISO)
diazinon  (EXP)
dibutyl phthalate  (EXP)
dichlorine  (EXP)
dieldrin  (EXP)
diuron  (EXP)
dorsomorphin  (ISO)
doxorubicin  (ISO)
endosulfan  (EXP)
epoxiconazole  (ISO)
ethanol  (EXP)
etoposide  (ISO)
fenvalerate  (EXP)
ferric ammonium citrate  (ISO)
flutamide  (EXP)
folic acid  (ISO)
furan  (EXP)
gallic acid  (ISO)
gentamycin  (EXP)
graphite  (EXP)
hemin  (ISO)
hydrogen peroxide  (ISO)
indole-3-methanol  (EXP)
indometacin  (ISO)
irinotecan  (EXP)
iron atom  (EXP,ISO)
iron(0)  (EXP,ISO)
L-ascorbic acid  (ISO)
L-methionine  (ISO)
lipopolysaccharide  (ISO)
lithium chloride  (ISO)
mitomycin C  (ISO)
N-butyl-N-(4-hydroxybutyl)nitrosamine  (ISO)
N-ethyl-N-nitrosourea  (ISO)
N-nitrosodiethylamine  (EXP)
nickel dichloride  (EXP)
nicotinamide  (ISO)
nitroglycerin  (EXP)
ochratoxin A  (EXP)
orphenadrine  (EXP)
oxaliplatin  (EXP)
ozone  (EXP,ISO)
paclitaxel  (ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
perfluorooctanoic acid  (EXP)
phenobarbital  (ISO)
pinostrobin  (ISO)
pirinixic acid  (ISO)
potassium chromate  (ISO)
progesterone  (EXP)
quercetin  (ISO)
raloxifene  (ISO)
resveratrol  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (ISO)
sarin  (ISO)
SB 431542  (ISO)
silicon dioxide  (ISO)
sirolimus  (ISO)
sodium arsenite  (ISO)
Soman  (EXP)
streptozocin  (EXP)
sunitinib  (ISO)
testosterone  (EXP,ISO)
tetrachloromethane  (ISO)
tetraphene  (ISO)
thioacetamide  (EXP)
thyroxine  (EXP,ISO)
titanium dioxide  (ISO)
topotecan  (EXP)
trichostatin A  (ISO)
trimellitic anhydride  (ISO)
valproic acid  (ISO)
vinclozolin  (EXP)
vincristine  (ISO)
zinc dichloride  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
actin cytoskeleton organization  (ISO)
adult locomotory behavior  (ISO)
adult walking behavior  (ISO)
aggresome assembly  (ISO)
apoptotic process  (ISO)
autophagy  (ISO)
axon development  (ISO)
basement membrane organization  (ISO)
bleb assembly  (ISO)
cell adhesion  (ISO)
cell differentiation  (IDA)
cellular response to heat  (ISO)
cellular response to unfolded protein  (ISO)
cholesterol metabolic process  (ISO)
fibroblast migration  (ISO)
gliogenesis  (ISO)
immune response  (ISO)
lamellipodium assembly  (ISO)
lipid metabolic process  (ISO)
mating  (ISO)
membrane raft organization  (ISO)
motor behavior  (ISO)
multicellular organism growth  (ISO)
muscle cell development  (ISO)
myelin assembly  (IBA,ISO)
myelination  (IDA,IMP,ISO)
myelination in peripheral nervous system  (ISO)
negative regulation of cell population proliferation  (IDA,IMP)
negative regulation of gene expression  (ISO)
negative regulation of neuron projection development  (IDA)
neuromuscular junction development, skeletal muscle fiber  (ISO)
neuromuscular process  (ISO)
neuronal action potential  (ISO)
neuronal action potential propagation  (ISO)
neuronal ion channel clustering  (ISO)
paranodal junction assembly  (ISO)
peripheral nervous system development  (IC,ISO)
peripheral nervous system neuron axonogenesis  (ISO)
positive regulation of gene expression  (ISO)
proteasomal protein catabolic process  (ISO)
proteasome-mediated ubiquitin-dependent protein catabolic process  (ISO)
regulation of apoptotic signaling pathway  (ISO)
regulation of cell cycle  (IEA)
regulation of gene expression  (ISO)
regulation of glial cell apoptotic process  (ISO)
regulation of inflammatory response  (ISO)
regulation of Schwann cell proliferation  (ISO)
response to bacterium  (ISO)
response to endoplasmic reticulum stress  (ISO)
Schwann cell development  (ISO)
Schwann cell differentiation  (ISO)
Schwann cell migration  (ISO)
striated muscle cell differentiation  (ISO)
transmission of nerve impulse  (ISO)
vestibular reflex  (ISO)

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Alterations in the Arf6-regulated plasma membrane endosomal recycling pathway in cells overexpressing the tetraspan protein Gas3/PMP22. Chies R, etal., J Cell Sci 2003 Mar 15;116(Pt 6):987-99.
2. Gene dosage effects in hereditary peripheral neuropathy. Expression of peripheral myelin protein 22 in Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies nerve biopsies. Gabriel JM, etal., Neurology 1997 Dec;49(6):1635-40.
3. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27.
4. Rat ISS GO annotations from GOA human gene data--August 2006 GOA data from the GO Consortium
5. Regional localization of rat peripheral myelin protein 22 (Pmp22) gene to chromosome 10q22 by FISH. Liehr T and Rautenstrauss B, Mamm Genome 1995 Jul;6(7):489
6. A novel point mutation in the peripheral myelin protein 22 (PMP22) gene associated with Charcot-Marie-Tooth disease type 1A. Marrosu MG, etal., Neurology 1997 Feb;48(2):489-93.
7. Rat ISS GO annotations from MGI mouse gene data--August 2006 MGD data from the GO Consortium
8. Electronic Transfer of LocusLink and RefSeq Data NCBI rat LocusLink and RefSeq merged data July 26, 2002
9. PMP22 transgenic dorsal root ganglia cultures show myelin abnormalities similar to those of human CMT1A. Nobbio L, etal., Ann Neurol 2001 Jul;50(1):47-55.
10. Peripheral myelin protein 22 is a constituent of intercellular junctions in epithelia. Notterpek L, etal., Proc Natl Acad Sci U S A 2001 Dec 4;98(25):14404-9.
11. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
12. GOA pipeline RGD automated data pipeline
13. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
14. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
15. A transgenic rat model of Charcot-Marie-Tooth disease. Sereda M, etal., Neuron. 1996 May;16(5):1049-60.
16. Characterization of a novel peripheral nervous system myelin protein (PMP-22/SR13). Snipes GJ, etal., J Cell Biol 1992 Apr;117(1):225-38.
17. Axon-regulated expression of a Schwann cell transcript that is homologous to a 'growth arrest-specific' gene. Spreyer P, etal., EMBO J 1991 Dec;10(12):3661-8.
18. Functional analysis for peripheral myelin protein PASII/PMP22: is it a member of claudin superfamily? Takeda Y, etal., Neurochem Res. 2001 Jun;26(6):599-607.
19. A myelin protein is encoded by the homologue of a growth arrest-specific gene. Welcher AA, etal., Proc Natl Acad Sci U S A 1991 Aug 15;88(16):7195-9.
20. Isolation of transcriptionally regulated sequences associated with neuronal and non-neuronal cell interactions. Welcher AA, etal., Prog Brain Res 1992;94:163-76.
21. Retroviral-mediated gene transfer of the peripheral myelin protein PMP22 in Schwann cells: modulation of cell growth. Zoidl G, etal., EMBO J 1995 Mar 15;14(6):1122-8.
Additional References at PubMed
PMID:1376775   PMID:2022965   PMID:11114256   PMID:11673320   PMID:12107182   PMID:12359155   PMID:14627652   PMID:15207917   PMID:15363066   PMID:15703401   PMID:15748170   PMID:16405874  
PMID:16436605   PMID:17174099   PMID:17971504   PMID:19170179   PMID:19290556   PMID:20071523   PMID:20122990   PMID:20427655   PMID:20553714   PMID:20731761   PMID:22190549   PMID:22337502  
PMID:23012479   PMID:23468528   PMID:23847051   PMID:25014022   PMID:25150498   PMID:25429154   PMID:25453108   PMID:27583434   PMID:28108290   PMID:29315582   PMID:29771329   PMID:33883545  
PMID:34837628  


Genomics

Comparative Map Data
Pmp22
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81048,294,932 - 48,324,941 (+)NCBIGRCr8
mRatBN7.21047,795,709 - 47,825,715 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1047,795,709 - 47,825,714 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1052,499,025 - 52,528,991 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01051,989,555 - 52,019,509 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01047,492,979 - 47,522,935 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01049,538,588 - 49,568,583 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1049,538,588 - 49,568,583 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01049,317,000 - 49,346,995 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41049,305,835 - 49,335,864 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11049,319,457 - 49,349,487 (+)NCBI
Celera1047,038,544 - 47,068,443 (+)NCBICelera
Cytogenetic Map10q23NCBI
PMP22
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381715,229,779 - 15,265,326 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1715,229,773 - 15,272,292 (-)EnsemblGRCh38hg38GRCh38
GRCh371715,133,096 - 15,168,643 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361715,073,821 - 15,109,369 (-)NCBINCBI36Build 36hg18NCBI36
Build 341715,073,821 - 15,104,818NCBI
Celera1715,157,676 - 15,193,224 (-)NCBICelera
Cytogenetic Map17p12NCBI
HuRef1715,027,217 - 15,062,782 (-)NCBIHuRef
CHM1_11715,141,853 - 15,177,435 (-)NCBICHM1_1
T2T-CHM13v2.01715,135,787 - 15,171,333 (-)NCBIT2T-CHM13v2.0
Pmp22
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391163,019,808 - 63,050,373 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1163,019,808 - 63,050,373 (+)EnsemblGRCm39 Ensembl
GRCm381163,128,982 - 63,159,547 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1163,128,982 - 63,159,547 (+)EnsemblGRCm38mm10GRCm38
MGSCv371162,945,012 - 62,973,048 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361162,947,705 - 62,975,741 (+)NCBIMGSCv36mm8
Celera1170,064,333 - 70,092,386 (+)NCBICelera
Cytogenetic Map11B3NCBI
cM Map1138.99NCBI
Pmp22
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554672,423,659 - 2,457,307 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554672,422,181 - 2,456,925 (+)NCBIChiLan1.0ChiLan1.0
PMP22
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21958,488,213 - 58,523,897 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11763,294,798 - 63,330,410 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01736,389,549 - 36,425,161 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11741,038,286 - 41,073,872 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1741,038,302 - 41,073,872 (+)Ensemblpanpan1.1panPan2
PMP22
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1538,806,731 - 38,839,002 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl538,807,826 - 38,838,971 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha538,951,486 - 38,983,753 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0538,914,812 - 38,947,091 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl538,914,813 - 38,947,074 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1538,887,774 - 38,920,037 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0538,833,093 - 38,865,352 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0539,021,339 - 39,053,622 (-)NCBIUU_Cfam_GSD_1.0
Pmp22
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560257,777,101 - 57,810,336 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049367241,747,005 - 1,778,141 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049367241,747,015 - 1,780,298 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PMP22
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1258,679,775 - 58,707,925 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11258,679,773 - 58,734,195 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
PMP22
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11614,527,892 - 14,563,223 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1614,527,672 - 14,563,171 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660596,655,072 - 6,690,713 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pmp22
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248773,292,244 - 3,328,660 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248773,293,980 - 3,328,337 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in Pmp22
167 total Variants
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
Mir29arno-miR-29a-3pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI19170179

Predicted Target Of
Summary Value
Count of predictions:463
Count of miRNA genes:244
Interacting mature miRNAs:297
Transcripts:ENSRNOT00000041606
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (mRatBN7.2)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
61441Btemp1Thermal response to stress QTL 14body temperature trait (VT:0005535)core body temperature (CMO:0001036)103539245763642539Rat
9589136Insul27Insulin level QTL 2710.460.001blood insulin amount (VT:0001560)plasma insulin level (CMO:0000342)101147401056474010Rat
152025229Scl83Serum cholesterol level QTL 834.33blood cholesterol amount (VT:0000180)103571058068663659Rat
1578779Tcas10Tongue tumor susceptibility QTL 103.12tongue integrity trait (VT:0010553)number of squamous cell tumors of the tongue with diameter greater than 3 mm (CMO:0001950)103129743976297439Rat
152025227Bw195Body weight QTL 1955.73body mass (VT:0001259)104698969968663659Rat
631564Apr3Acute phase response QTL 33.9blood interleukin-6 amount (VT:0008595)plasma interleukin-6 level (CMO:0001927)101527595560275955Rat
1298069Bp168Blood pressure QTL 1685.5blood pressure trait (VT:0000183)systolic blood pressure (CMO:0000004)102652195798003205Rat
631552Vetf2Vascular elastic tissue fragility QTL 24.50.0002aorta elastic tissue integrity trait (VT:0010556)artery internal elastic lamina non-tumorous lesion count (CMO:0001913)104114263386142633Rat
631554Bp133Blood pressure QTL 1330.005arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)1074336463851208Rat
631557Bp136Blood pressure QTL 1360.003arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)103063205375632053Rat
61325Aia5Adjuvant induced arthritis QTL 50.01joint integrity trait (VT:0010548)joint inflammation composite score (CMO:0000919)1023444813104060283Rat
1298078Stresp5Stress response QTL 52.990.00025blood corticosterone amount (VT:0005345)plasma corticosterone level (CMO:0001173)1042045676104670812Rat
1578761Stresp21Stress response QTL 213.3thymus mass (VT:0004954)thymus wet weight (CMO:0000855)10637574651375746Rat
2298544Neuinf9Neuroinflammation QTL 94.6nervous system integrity trait (VT:0010566)spinal cord complement component 1, q subcomponent, B chain mRNA level (CMO:0002126)10580199062146030Rat
61463Bp12Blood pressure QTL 126.30.0001arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)104133325886333258Rat
8694173Bw149Body weight QTL 1494.380.001body mass (VT:0001259)body weight gain (CMO:0000420)104444169989441699Rat
2300218Hpcl2Hepatic cholesterol level QTL 2liver cholesterol amount (VT:0010498)liver cholesterol level (CMO:0001597)104502965095600334Rat
1554317Bmd4Bone mineral density QTL 49.40.0001lumbar vertebra mineral mass (VT:0010511)volumetric bone mineral density (CMO:0001553)101981604299406971Rat
1598852Anxrr19Anxiety related response QTL 195.07body movement coordination trait (VT:0005424)number of rearing movements in an experimental apparatus (CMO:0001752)101816784163167841Rat
1581497Esta1Estrogen-induced thymic atrophy QTL 1thymus mass (VT:0004954)thymus wet weight (CMO:0000855)102132980561345413Rat
2313095Bss62Bone structure and strength QTL 621.50.0001tibia size trait (VT:0100001)tibia midshaft cross-sectional area (CMO:0001717)10538701450387014Rat
724527Bp148Blood pressure QTL 1480.0001arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)102845313673453136Rat
1358897Stresp6Stress response QTL 64.170.022blood norepinephrine amount (VT:0005663)plasma norepinephrine level (CMO:0001010)103539226764155584Rat
1331762Rf40Renal function QTL 403.873kidney blood vessel physiology trait (VT:0100012)absolute change in renal vascular resistance (CMO:0001900)102929950464155584Rat
2300171Bmd58Bone mineral density QTL 584.90.0001lumbar vertebra mineral mass (VT:0010511)volumetric bone mineral density (CMO:0001553)102694462871944628Rat
61354Pia10Pristane induced arthritis QTL 100.01joint integrity trait (VT:0010548)joint inflammation composite score (CMO:0000919)1023444813104060283Rat
2301967Cm73Cardiac mass QTL 734.55heart left ventricle mass (VT:0007031)heart left ventricle weight to body weight ratio (CMO:0000530)101448701189062041Rat
2303118Mamtr7Mammary tumor resistance QTL 70.003mammary gland integrity trait (VT:0010552)mammary tumor growth rate (CMO:0000344)109658275104670812Rat
70188BpQTLcluster1Blood pressure QTL cluster 14.864arterial blood pressure trait (VT:2000000)pulse pressure (CMO:0000292)14232313287323132Rat
2313104Bss61Bone structure and strength QTL 610.90.0001tibia area (VT:1000281)tibia midshaft cross-sectional area (CMO:0001717)10538701450387014Rat
9590310Scort19Serum corticosterone level QTL 196.30.001blood corticosterone amount (VT:0005345)plasma corticosterone level (CMO:0001173)101147401056474010Rat
9589030Epfw9Epididymal fat weight QTL 919.240.001epididymal fat pad mass (VT:0010421)epididymal fat pad weight to body weight ratio (CMO:0000658)104444169989441699Rat
10402859Bp381Blood pressure QTL 3810.002arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)102760646872606468Rat
2316949Gluco60Glucose level QTL 603.7blood glucose amount (VT:0000188)blood glucose level (CMO:0000046)1014487011107057807Rat
70198BpQTLcluster9Blood pressure QTL cluster 92.94arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)104232313287323132Rat
6893352Bw100Body weight QTL 1000.330.6body mass (VT:0001259)body weight (CMO:0000012)11590666560906665Rat
724556Pur2Proteinuria QTL 25.5urine protein amount (VT:0005160)urine protein level (CMO:0000591)102242750090627625Rat
8662860Vetf10Vascular elastic tissue fragility QTL 10artery integrity trait (VT:0010639)number of ruptures of the internal elastic lamina of the abdominal aorta and iliac arteries (CMO:0002562)10615418273453136Rat
2313066Bss63Bone structure and strength QTL 631.40.0001tibia strength trait (VT:1000284)bone polar moment of inertia (CMO:0001558)10538701450387014Rat
2313064Bmd71Bone mineral density QTL 710.90.0001tibia mineral mass (VT:1000283)compact volumetric bone mineral density (CMO:0001730)10538701450387014Rat
70223Bp57Blood pressure QTL 575arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)10180676123Rat
1354587Kidm21Kidney mass QTL 213.3kidney mass (VT:0002707)right kidney wet weight (CMO:0000082)101502851360430477Rat
6893350Bw99Body weight QTL 990.870.16body mass (VT:0001259)body weight (CMO:0000012)11590666560906665Rat
2317043Aia7Adjuvant induced arthritis QTL 73.82joint integrity trait (VT:0010548)left rear ankle joint diameter (CMO:0002149)103756507982565079Rat
70224Eae3Experimental allergic encephalomyelitis QTL 34.1nervous system integrity trait (VT:0010566)experimental autoimmune encephalomyelitis incidence/prevalence measurement (CMO:0001046)102652195761345413Rat
2317042Aia20Adjuvant induced arthritis QTL 203.38joint integrity trait (VT:0010548)right rear ankle joint diameter (CMO:0002150)103756507982565079Rat
2313081Bss64Bone structure and strength QTL 641.30.0001tibia strength trait (VT:1000284)tibia total energy absorbed before break (CMO:0001736)10538701450387014Rat
1331791Cm31Cardiac mass QTL 313.84606heart mass (VT:0007028)heart wet weight (CMO:0000069)1029299504107211142Rat
2313087Bmd80Bone mineral density QTL 803.20.0001tibia mineral mass (VT:1000283)total volumetric bone mineral density (CMO:0001728)101960648364606483Rat
1354614Hpcl1Hepatic cholesterol level QTL 13.3liver cholesterol amount (VT:0010498)liver cholesterol level (CMO:0001597)103539226751793994Rat
631532Cm50Cardiac mass QTL 506.6heart mass (VT:0007028)calculated heart weight (CMO:0000073)101790711351786432Rat
1576319Cia29Collagen induced arthritis QTL 29joint integrity trait (VT:0010548)joint inflammation composite score (CMO:0000919)103397392178973921Rat
8552805Bw145Body weight QTL 1452.2body mass (VT:0001259)change in body weight to body weight ratio (CMO:0002216)104194452678307017Rat
631267Cia20Collagen induced arthritis QTL 203.2joint integrity trait (VT:0010548)joint inflammation composite score (CMO:0000919)1023444813104060283Rat
1600371Mcs21Mammary carcinoma susceptibility QTL 213mammary gland integrity trait (VT:0010552)mammary tumor growth rate (CMO:0000344)102887565052200160Rat
1576308Schws1Schwannoma susceptibility QTL 10.0041nervous system integrity trait (VT:0010566)percentage of study population developing trigeminal nerve neurilemmomas during a period of time (CMO:0002017)1040035094102359817Rat
631269Cia22Collagen induced arthritis QTL 228.9joint integrity trait (VT:0010548)joint inflammation composite score (CMO:0000919)1040035094104060283Rat
631268Cia21Collagen induced arthritis QTL 213.1joint integrity trait (VT:0010548)joint inflammation composite score (CMO:0000919)1014487011104060283Rat
9590268Scort13Serum corticosterone level QTL 133.260.001blood corticosterone amount (VT:0005345)plasma corticosterone level (CMO:0001173)101147401056474010Rat
1576311Pia26Pristane induced arthritis QTL 26joint integrity trait (VT:0010548)joint inflammation composite score (CMO:0000919)103122402675632053Rat
631270Cia23Collagen induced arthritis QTL 233.9joint integrity trait (VT:0010548)joint inflammation composite score (CMO:0000919)1040035094104060283Rat
7411614Foco18Food consumption QTL 180.001eating behavior trait (VT:0001431)feed conversion ratio (CMO:0001312)104444169989441699Rat
631547Bp87Blood pressure QTL 874.5arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)104736947092369470Rat
61427Cia16Collagen induced arthritis QTL 163.2joint integrity trait (VT:0010548)joint inflammation composite score (CMO:0000919)10635789696121100Rat
6893342Cm78Cardiac mass QTL 780.10.88heart mass (VT:0007028)heart weight to body weight ratio (CMO:0000074)104287676679813922Rat
2292441Bp308Blood pressure QTL 308arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)102760646872606468Rat
2313055Bw96Body weight QTL 963.60.0001body mass (VT:0001259)body weight (CMO:0000012)101960648364606483Rat
631542Bp82Blood pressure QTL 826.8arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)102652195798952741Rat

Markers in Region
PMC64694P1  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.21047,825,195 - 47,825,620 (+)MAPPERmRatBN7.2
Rnor_6.01049,568,064 - 49,568,488NCBIRnor6.0
Rnor_5.01049,346,476 - 49,346,900UniSTSRnor5.0
RGSC_v3.41049,335,346 - 49,335,770UniSTSRGSC3.4
Celera1047,067,925 - 47,068,349UniSTS
Cytogenetic Map10q22UniSTS
Pmp22-rs  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.21047,825,363 - 47,825,567 (+)MAPPERmRatBN7.2
Rnor_6.01049,568,232 - 49,568,435NCBIRnor6.0
Rnor_5.01049,346,644 - 49,346,847UniSTSRnor5.0
RGSC_v3.41049,335,514 - 49,335,717UniSTSRGSC3.4
Celera1047,068,093 - 47,068,296UniSTS
Cytogenetic Map10q22UniSTS
RH127495  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.21047,825,358 - 47,825,568 (+)MAPPERmRatBN7.2
Rnor_6.01049,568,227 - 49,568,436NCBIRnor6.0
Rnor_5.01049,346,639 - 49,346,848UniSTSRnor5.0
RGSC_v3.41049,335,509 - 49,335,718UniSTSRGSC3.4
Celera1047,068,088 - 47,068,297UniSTS
RH 3.4 Map10544.3UniSTS
Cytogenetic Map10q22UniSTS
RH94848  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.21047,824,997 - 47,825,187 (+)MAPPERmRatBN7.2
Rnor_6.01049,567,866 - 49,568,055NCBIRnor6.0
Rnor_5.01049,346,278 - 49,346,467UniSTSRnor5.0
RGSC_v3.41049,335,148 - 49,335,337UniSTSRGSC3.4
Celera1047,067,727 - 47,067,916UniSTS
Cytogenetic Map10q22UniSTS
RH94849  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.21047,825,216 - 47,825,364 (+)MAPPERmRatBN7.2
Rnor_6.01049,568,085 - 49,568,232NCBIRnor6.0
Rnor_5.01049,346,497 - 49,346,644UniSTSRnor5.0
RGSC_v3.41049,335,367 - 49,335,514UniSTSRGSC3.4
Celera1047,067,946 - 47,068,093UniSTS
Cytogenetic Map10q22UniSTS
RH138695  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.21047,824,423 - 47,824,646 (+)MAPPERmRatBN7.2
Rnor_6.01049,567,292 - 49,567,514NCBIRnor6.0
Rnor_5.01049,345,704 - 49,345,926UniSTSRnor5.0
RGSC_v3.41049,334,574 - 49,334,796UniSTSRGSC3.4
Celera1047,067,153 - 47,067,375UniSTS
RH 3.4 Map10551.9UniSTS
Cytogenetic Map10q22UniSTS
Pmp22  
Rat AssemblyChrPosition (strand)SourceJBrowse
RGSC_v3.41049,334,983 - 49,335,611UniSTSRGSC3.4
RGSC_v3.41049,334,575 - 49,334,897UniSTSRGSC3.4
Celera1047,067,562 - 47,068,190UniSTS
Celera1047,067,154 - 47,067,476UniSTS
Pmp22  
Rat AssemblyChrPosition (strand)SourceJBrowse
Rnor_5.01049,346,113 - 49,346,741UniSTSRnor5.0
RGSC_v3.41049,334,983 - 49,335,611UniSTSRGSC3.4
Celera1047,067,562 - 47,068,190UniSTS
Cytogenetic Map10q22UniSTS
Pmp22  
Rat AssemblyChrPosition (strand)SourceJBrowse
Rnor_5.01049,345,705 - 49,346,027UniSTSRnor5.0
RGSC_v3.41049,334,575 - 49,334,897UniSTSRGSC3.4
Celera1047,067,154 - 47,067,476UniSTS
Cytogenetic Map10q22UniSTS


Expression

RNA-SEQ Expression

alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
nervous system
renal system
reproductive system
respiratory system
9 11 49 113 91 90 59 25 59 6 218 97 93 45 60 31

Sequence


Ensembl Acc Id: ENSRNOT00000041606   ⟹   ENSRNOP00000051201
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl1047,800,754 - 47,825,714 (+)Ensembl
Rnor_6.0 Ensembl1049,541,051 - 49,568,583 (+)Ensembl
Ensembl Acc Id: ENSRNOT00000081415   ⟹   ENSRNOP00000069909
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl1047,795,709 - 47,825,714 (+)Ensembl
Rnor_6.0 Ensembl1049,538,588 - 49,568,582 (+)Ensembl
RefSeq Acc Id: NM_017037   ⟹   NP_058733
RefSeq Status: PROVISIONAL
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr81048,294,932 - 48,324,940 (+)NCBI
mRatBN7.21047,795,709 - 47,825,714 (+)NCBI
Rnor_6.01049,538,588 - 49,568,582 (+)NCBI
Rnor_5.01049,317,000 - 49,346,995 (+)NCBI
RGSC_v3.41049,305,835 - 49,335,864 (+)RGD
Celera1047,038,544 - 47,068,443 (+)RGD
Sequence:
RefSeq Acc Id: XM_006246584   ⟹   XP_006246646
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr81048,297,418 - 48,324,941 (+)NCBI
mRatBN7.21047,798,177 - 47,825,715 (+)NCBI
Rnor_6.01049,541,059 - 49,568,583 (+)NCBI
Rnor_5.01049,317,000 - 49,346,995 (+)NCBI
Sequence:
RefSeq Acc Id: XM_039085208   ⟹   XP_038941136
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr81048,298,732 - 48,324,941 (+)NCBI
mRatBN7.21047,799,473 - 47,825,715 (+)NCBI
RefSeq Acc Id: NP_058733   ⟸   NM_017037
- UniProtKB: P25094 (UniProtKB/Swiss-Prot),   A6HFD7 (UniProtKB/TrEMBL),   A0A8L2QPH3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006246646   ⟸   XM_006246584
- Peptide Label: isoform X1
- Sequence:
Ensembl Acc Id: ENSRNOP00000051201   ⟸   ENSRNOT00000041606
Ensembl Acc Id: ENSRNOP00000069909   ⟸   ENSRNOT00000081415
RefSeq Acc Id: XP_038941136   ⟸   XM_039085208
- Peptide Label: isoform X1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P25094-F1-model_v2 AlphaFold P25094 1-160 view protein structure

Transcriptome

eQTL   View at Phenogen
WGCNA   View at Phenogen
Tissue/Strain Expression   View at Phenogen

Promoters
RGD ID:13697281
Promoter ID:EPDNEW_R7806
Type:multiple initiation site
Name:Pmp22_2
Description:peripheral myelin protein 22
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_R7807  
Experiment Methods:Single-end sequencing.
Position:
Rat AssemblyChrPosition (strand)Source
Rnor_6.01049,538,588 - 49,538,648EPDNEW
RGD ID:13697283
Promoter ID:EPDNEW_R7807
Type:initiation region
Name:Pmp22_1
Description:peripheral myelin protein 22
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_R7806  
Experiment Methods:Single-end sequencing.
Position:
Rat AssemblyChrPosition (strand)Source
Rnor_6.01049,541,085 - 49,541,145EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene RGD:3359 AgrOrtholog
BioCyc Gene G2FUF-24738 BioCyc
Ensembl Genes ENSRNOG00000003338 Ensembl, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSRNOG00055031007 UniProtKB/Swiss-Prot
  ENSRNOG00060021811 UniProtKB/Swiss-Prot
  ENSRNOG00065008129 UniProtKB/Swiss-Prot
Ensembl Transcript ENSRNOT00000041606.4 UniProtKB/TrEMBL
  ENSRNOT00000081415.2 UniProtKB/Swiss-Prot
  ENSRNOT00055053784 UniProtKB/Swiss-Prot
  ENSRNOT00060037859 UniProtKB/Swiss-Prot
  ENSRNOT00065012865 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.140.150 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
InterPro PMP-22/EMP/MP20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PMP22 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PMP22/EMP/MP20/Claudin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PMP22_EMP_MP20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report rno:24660 UniProtKB/Swiss-Prot
NCBI Gene 24660 ENTREZGENE
PANTHER EPITHELIAL MEMBRANE PROTEIN-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10671:SF7 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PMP22_Claudin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PhenoGen Pmp22 PhenoGen
PRINTS EPMEMFAMILY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PMYELIN22 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE PMP22_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PMP22_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
RatGTEx ENSRNOG00000003338 RatGTEx
  ENSRNOG00055031007 RatGTEx
  ENSRNOG00060021811 RatGTEx
  ENSRNOG00065008129 RatGTEx
UniProt A0A8L2QPH3 ENTREZGENE, UniProtKB/TrEMBL
  A6HFD7 ENTREZGENE, UniProtKB/TrEMBL
  P25094 ENTREZGENE, UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2004-12-14 Pmp22  peripheral myelin protein 22      Symbol and Name status set to approved 1299863 APPROVED
2002-06-10 Pmp22  peripheral myelin protein 22      Name updated 70585 PROVISIONAL

RGD Curation Notes
Note Type Note Reference
gene_disease defects in Pmp22 are responsible for the majority of heritable demyelinating peripheral neuropathies, including Charcot-Marie-Tooth disease 61486
gene_disease defects in Pmp22 are responsible for the majority of heritable demyelinating peripheral neuropathies, including Charcot-Marie-Tooth disease 70581
gene_disease over dosage causes Charcot-Marie-Tooth disease, decreased dosage results in neuropathy with liability to pressure palsies 61486
gene_disease over dosage causes Charcot-Marie-Tooth disease, decreased dosage results in neuropathy with liability to pressure palsies 70581
gene_disease transgenic dorsal root ganglia cultures show myelin abnormalities similar to those of human Charcot-Marie-Tooth 1A (CMT1A) neuropathy 729622
gene_expression expression highest in myolin-forming Schwann cells 61486
gene_expression expression highest in myolin-forming Schwann cells 70581
gene_expression found in lungs, intestines and epithelia 61486
gene_expression found in lungs, intestines and epithelia 70581
gene_function tetraspan glycoprotein component of intercellular junctions of epithelia 61486
gene_function tetraspan glycoprotein component of intercellular junctions of epithelia 70581