Pmp22 MGI Mouse Gene Detail - MGI:97631 - peripheral myelin protein 22

Symbol

Pmp22
Name

peripheral myelin protein 22
Synonyms

Gas-3, TRE002

Feature Type

protein coding gene
IDs

MGI:97631
NCBI Gene: 18858
Alliance

gene page
Transcription Start Sites

26 TSS

Sequence Map

Chr11:63019808-63050373 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 11, 38.99 cM
Mapping Data

31 experiments

SNPs within 2kb

977 from dbSNP Build 142
Strain Annotations

18
PCR

4
RFLP

3

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_97631	protein coding gene	Chr11:63019808-63050373 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0018468	protein coding gene	Chr11:63227683-63258280 (+)
A/J	MGP_AJ_G0018437	protein coding gene	Chr11:60881456-60911955 (+)
AKR/J	MGP_AKRJ_G0018406	protein coding gene	Chr11:62759113-62789726 (+)
BALB/cJ	MGP_BALBcJ_G0018408	protein coding gene	Chr11:61153560-61184125 (+)
C3H/HeJ	MGP_C3HHeJ_G0018221	protein coding gene	Chr11:62729032-62761112 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0018860	protein coding gene	Chr11:65201465-65232013 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0016504	protein coding gene	Chr11:57951958-57982042 (+)
CAST/EiJ	MGP_CASTEiJ_G0017777	protein coding gene	Chr11:62888805-62920362 (+)
CBA/J	MGP_CBAJ_G0018195	protein coding gene	Chr11:68014488-68045625 (+)
DBA/2J	MGP_DBA2J_G0018304	protein coding gene	Chr11:60432522-60463134 (+)
FVB/NJ	MGP_FVBNJ_G0018294	protein coding gene	Chr11:60098730-60129260 (+)
LP/J	MGP_LPJ_G0018376	protein coding gene	Chr11:63763393-63793979 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0018318	protein coding gene	Chr11:68980487-69011043 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0018901	protein coding gene	Chr11:62916107-62949963 (+)
PWK/PhJ	MGP_PWKPhJ_G0017551	protein coding gene	Chr11:61055626-61082756 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0017341	protein coding gene	Chr11:62758163-62786721 (+)
WSB/EiJ	MGP_WSBEiJ_G0017830	protein coding gene	Chr11:62530287-62560815 (+)

Human Ortholog

PMP22, peripheral myelin protein 22

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

PMP22, peripheral myelin protein 22
Synonyms

CIDP, CMT1A, CMT1E, DSS, GAS-3, GAS3, HMSNIA, HNPP, Sp110
Links

HGNC:9118

NCBI Gene ID: 5376

neXtProt AC: NX_Q01453

UniProt: Q01453
Chr Location

17p12; chr17:15229773-15272292 (-) GRCh38

MGI Vertebrate Homology

Pmp22 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: PMP22
Gene Tree

Pmp22

Diseases

4 with Pmp22 mouse models; 6 with human PMP22 associations

Human Disease

Mouse Models

Charcot-Marie-Tooth disease type 1A

IDs

View 6 models

Charcot-Marie-Tooth disease type 1E

IDs

View 1 model

Charcot-Marie-Tooth disease type 3

IDs

View 1 model

hereditary neuropathy with liability to pressure palsies

IDs

View 3 models

Charcot-Marie-Tooth disease

IDs

Guillain-Barre syndrome

IDs

Click on a disease name to see all genes associated with that disease.

Mutations/Alleles

7 with disease annotations

References

9 with disease annotations

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Phenotype Summary

53 phenotypes from 14 alleles in 15 genetic backgrounds
115 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

18
Chemically induced (ENU)

5
Chemically induced (other)

1
Endonuclease-mediated

1
Spontaneous

4
Targeted

4
Transgenic

3
Genomic Mutations

1 involving Pmp22
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

33 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice with one or two copies of several mutations exhibit tremors, a tendency toward seizures, and partial paralysis associated with demyelination and loss of peripheral axons. Mutants have high juvenile mortality and males are often sterile.

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All GO Annotations

108
GO References

30

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

761
Tissues

42
cDNA Data

69
Literature Summary

16

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GENSAT

GEO

Expression Atlas
Other Vertebrate Links

Xenbase pmp22

ZFIN pmp22a

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All Sequences

89
RefSeq

46
UniProt

2
CCDS

CCDS24837.1

Ensembl

ENSMUSG00000018217 (Evidence)
NCBI Gene

18858

			Length	Strain/Species	Flank
genomic	18858	NCBI Gene Model \| MGI Sequence Detail	30566	C57BL/6J	± kb
transcript	NM_001404288	RefSeq \| MGI Sequence Detail	2003	ZRU/MplStud
polypeptide	P16646	UniProt \| EBI \| MGI Sequence Detail	161	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000012910 peripheral myelin protein 22

(term hierarchy)
InterPro Domains

IPR050579 Peripheral Myelin Protein 22/Epithelial Membrane Protein

IPR003936 Peripheral myelin protein PMP22

IPR004032 PMP-22/EMP/MP20

IPR004031 PMP-22/EMP/MP20/Claudin
GlyGen

P16646 1 site

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All nucleic 82

Genomic 4

cDNA 69

Primer pair 7

Other 2

Microarray probesets 4

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MGD-MRK-13371, MGD-MRK-15215, MGD-MRK-9988, MGI:5426059

Summaries

All 214

Developmental Gene Expression 16

Diseases 9

Gene Ontology 30

Phenotypes 115
Earliest

J:13038 Falconer DS, Two new mutants, "trembler" and "reeler," with neurological actions in the house mouse. J Genet. 1951;50(2):192-201
Latest

J:355223 Cassinotti LR, et al., Hidden hearing loss in a Charcot-Marie-Tooth type 1A mouse model. JCI Insight. 2024 Oct 8;9(19)

TSS for Pmp22:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr102081	Chr11:63019799-63019816 (+)	0 bp
Tssr102082	Chr11:63019821-63019832 (+)	19 bp
Tssr102083	Chr11:63019853-63019862 (+)	50 bp
Tssr102084	Chr11:63022328-63022335 (+)	2,524 bp
Tssr102085	Chr11:63022342-63022365 (+)	2,546 bp
Tssr102086	Chr11:63022379-63022396 (+)	2,580 bp
Tssr102087	Chr11:63023474-63023503 (+)	3,681 bp
Tssr102088	Chr11:63023894-63023901 (+)	4,090 bp
Tssr102089	Chr11:63023918-63023955 (+)	4,129 bp
Tssr102090	Chr11:63023962-63023971 (+)	4,159 bp
Tssr102091	Chr11:63023998-63024003 (+)	4,193 bp
Tssr102092	Chr11:63025280-63025294 (+)	5,479 bp
Tssr102093	Chr11:63037468-63037472 (+)	17,662 bp
Tssr102094	Chr11:63041939-63041971 (+)	22,147 bp
Tssr102095	Chr11:63042039-63042060 (+)	22,242 bp
Tssr102096	Chr11:63048700-63048704 (+)	28,894 bp
Tssr102097	Chr11:63049169-63049194 (+)	29,374 bp
Tssr102098	Chr11:63049240-63049260 (+)	29,442 bp
Tssr102099	Chr11:63049267-63049286 (+)	29,469 bp
Tssr102100	Chr11:63049297-63049308 (+)	29,495 bp
Tssr102101	Chr11:63049340-63049385 (+)	29,555 bp
Tssr102102	Chr11:63049388-63049422 (+)	29,597 bp
Tssr102103	Chr11:63049468-63049528 (+)	29,690 bp
Tssr102104	Chr11:63049583-63049609 (+)	29,788 bp
Tssr102105	Chr11:63049622-63049637 (+)	29,822 bp
Tssr102106	Chr11:63049642-63049657 (+)	29,842 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 12/10/2024 MGI 6.24