Pmp2 MGI Mouse Gene Detail - MGI:102667 - peripheral myelin protein 2

Symbol

Pmp2
Name

peripheral myelin protein 2
Synonyms

P2

Feature Type

protein coding gene
IDs

MGI:102667
NCBI Gene: 18857
Alliance

gene page
Transcription Start Sites

1 TSS

Sequence Map

Chr3:10244911-10248945 bp, - strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 3, 2.54 cM

SNPs within 2kb

208 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_102667	protein coding gene	Chr3:10244911-10248989 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0027060	protein coding gene	Chr3:7145580-7149657 (-)
A/J	MGP_AJ_G0027024	protein coding gene	Chr3:7304542-7308620 (-)
AKR/J	MGP_AKRJ_G0026994	protein coding gene	Chr3:7206023-7210100 (-)
BALB/cJ	MGP_BALBcJ_G0027033	protein coding gene	Chr3:7002204-7006282 (-)
C3H/HeJ	MGP_C3HHeJ_G0026773	protein coding gene	Chr3:7511698-7515776 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0027477	protein coding gene	Chr3:7782542-7786620 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0024839	protein coding gene	Chr3:6186041-6190128 (-)
CAST/EiJ	MGP_CASTEiJ_G0026231	protein coding gene	Chr3:7534651-7538711 (-)
CBA/J	MGP_CBAJ_G0026751	protein coding gene	Chr3:7790988-7795066 (-)
DBA/2J	MGP_DBA2J_G0026887	protein coding gene	Chr3:6868936-6873014 (-)
FVB/NJ	MGP_FVBNJ_G0026854	protein coding gene	Chr3:6797476-6801553 (-)
LP/J	MGP_LPJ_G0026997	protein coding gene	Chr3:7667738-7671815 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0026875	protein coding gene	Chr3:8818158-8822236 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0027537	protein coding gene	Chr3:7067212-7071290 (-)
PWK/PhJ	MGP_PWKPhJ_G0025966	protein coding gene	Chr3:7097235-7101282 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0025769	protein coding gene	Chr3:7209184-7213215 (-)
WSB/EiJ	MGP_WSBEiJ_G0026302	protein coding gene	Chr3:7096951-7101038 (-)

Human Ortholog

PMP2, peripheral myelin protein 2

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

PMP2, peripheral myelin protein 2
Synonyms

CMT1G, FABP8, M-FABP, MP2, P2
Links

HGNC:9117

NCBI Gene ID: 5375

neXtProt AC: NX_P02689

UniProt: P02689
Chr Location

8q21.13; chr8:81440326-81447439 (-) GRCh38

MGI Vertebrate Homology

Pmp2 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: PMP2
Gene Tree

Pmp2

Diseases

1 with human PMP2 associations

				Human Disease	Mouse Models
				Charcot-Marie-Tooth disease type 1G IDs Charcot-Marie-Tooth disease type 1G DOID:0111560 OMIM:618279 ORDO:476394

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

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Phenotype Summary

3 phenotypes from 1 allele in 1 genetic background
4 phenotypes from multigenic genotypes
6 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

6
Endonuclease-mediated

2
Targeted

4
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

13 strains or lines available

Mice homozygous for a knock-out allele exhibit a temporary reduction in motor nerve conduction velocity and transitory alterations in the lipid profile of peripheral myelin but no major defects in general PNS myelin structure.

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All GO Annotations

11
GO References

6

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

706
cDNA Data

3
Literature Summary

2

Tissue x Stage Matrix

Other Mouse Links

GEO

Expression Atlas
Other Vertebrate Links

Xenbase pmp2

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All Sequences

30
RefSeq

2
UniProt

1
CCDS

CCDS17236.1

Ensembl

ENSMUSG00000052468 (Evidence)
NCBI Gene

18857

			Length	Strain/Species	Flank
genomic	18857	NCBI Gene Model \| MGI Sequence Detail	4035	C57BL/6J	± kb
transcript	NM_001030305	RefSeq \| MGI Sequence Detail	1364	ZRU/MplStud
polypeptide	P24526	UniProt \| EBI \| MGI Sequence Detail	132	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000012909 myelin P2 protein

(term hierarchy)
InterPro Domains

IPR012674 Calycin

IPR000463 Cytosolic fatty-acid binding

IPR031259 Intracellular lipid binding protein

IPR000566 Lipocalin/cytosolic fatty-acid binding domain

IPR031256 Myelin P2 protein

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All nucleic 6

Genomic 2

cDNA 4

Microarray probesets 2

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MGD-MRK-19568

Summaries

All 27

Developmental Gene Expression 2

Gene Ontology 6

Phenotypes 6
Earliest

J:11254 Narayanan V, et al., Structure of the mouse myelin P2 protein gene. J Neurochem. 1991 Jul;57(1):75-80
Latest

J:345924 Hong J, et al., PMP2 regulates myelin thickening and ATP production during remyelination. Glia. 2024 Feb 5;

TSS for Pmp2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr32600	Chr3:10248983-10248987 (-)	-40 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 11/12/2024 MGI 6.24