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The protein encoded by this gene localizes to myelin sheaths of the peripheral nervous system. The encoded protein can bind both the membrane layers of the sheaths and monomeric lipids, and is thought to provide stability to the sheath. A defect in this gene was shown to be a cause of dominant demyelinating CMT neuropathy. [provided by RefSeq, Jan 2017]
PMP2 (Peripheral Myelin Protein 2) is a Protein Coding gene. Diseases associated with PMP2 include Charcot-Marie-Tooth Disease, Demyelinating, Type 1G and Neuritis. Gene Ontology (GO) annotations related to this gene include transporter activity and cholesterol binding. An important paralog of this gene is FABP9.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH08J081447 | Promoter | 0.3 | EPDnew | 600.7 | 0.0 | -20 | 0.1 | PMP2 ENSG00000253859 FABP9 LOC101927118 | ||
GH08J081448 | Enhancer | 0.2 | Ensembl | 609.5 | -0.6 | -562 | 0.8 | PMP2 ENSG00000253859 FABP9 LOC101927118 | ||
GH08J081363 | Enhancer | 0.8 | Ensembl ENCODE | 16.5 | +83.1 | 83139 | 6.2 | ZNF692 IKZF2 RBAK JUND CEBPB USF1 GABPA FOS ELK4 ELF1 | PMP2 ZFAND1 ENSG00000254162 CHMP4C FABP4 IMPA1 HSALNG0066571 lnc-FABP5-1 FABP5 | |
GH08J081346 | Enhancer | 0.7 | Ensembl ENCODE | 14.9 | +96.9 | 96938 | 10.2 | POLR2A CEBPB MAFF EP300 JUN TRIM28 ZNF143 | HSALNG0066569 PMP2 FABP9 HSALNG0066567 LOC105375925 FABP5 | |
GH08J081421 | Enhancer | 0.4 | Ensembl ENCODE | 19.6 | +24.9 | 24927 | 1.9 | JUN | PMP2 FABP4 CHMP4C piR-33605-458 HSALNG0066572 FABP5 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005504 | fatty acid binding | IDA | 20421974 |
GO:0005515 | protein binding | IPI | 25416956 |
GO:0008289 | lipid binding | IEA | -- |
GO:0015485 | cholesterol binding | IDA | 20421974 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0043209 | myelin sheath | IEA | -- |
GO:0070062 | extracellular exosome | HDA | 23533145 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0061024 | membrane organization | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
oleic acid | Approved, Investigational, Vet_approved | Pharma | Agonist, Full agonist, Activator, Activation, Target | 0 | ||
Palmitic Acid | Approved | Pharma | Agonist, Full agonist, Target | 27 | ||
Dodecyldimethylamine N-oxide | Experimental | Pharma | Target | 0 | ||
S-Hydroxycysteine | Experimental | Pharma | Target | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | · | 4c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||
SP2: | |||||||||||||
SP3: | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PMP2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | PMP2 30 |
|
||
Cow (Bos Taurus) |
Mammalia | PMP2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Pmp2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Pmp2 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | PMP2 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | PMP2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | PMP2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | PMP2 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | LOC100536788 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | lbp-9 30 |
|
SNP ID | Clinical significance and condition | Chr 08 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
711896 | Benign: not provided | 81,444,914(-) | A/G | MISSENSE_VARIANT,INTRON_VARIANT | |
768248 | Benign: not provided | 81,443,432(-) | C/T | MISSENSE_VARIANT,THREE_PRIME_UTR_VARIANT | |
769341 | Benign: not provided | 81,444,884(-) | T/A | MISSENSE_VARIANT,INTRON_VARIANT | |
781142 | Benign: not provided | 81,444,492(-) | A/G | INTRON_VARIANT | |
810298 | Uncertain Significance: not provided | 81,447,314(-) | C/A | MISSENSE_VARIANT,NONSENSE |
Disorder | Aliases | PubMed IDs |
---|---|---|
charcot-marie-tooth disease, demyelinating, type 1g |
|
|
neuritis |
|
|
charcot-marie-tooth disease |
|
|
neuropathy |
|
|
encephalitozoonosis |
|
|