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peripheral myelin protein 22

Summary

Gene Symbol

PMP22

Organism

Homo sapiens (human)

External Links

NCBI Gene

5376

PubChem

5376

Alliance of Genome Resources

HGNC:9118

Annotation

Keyword

Cell membrane
Charcot-Marie-Tooth disease
Deafness
Dejerine-Sottas syndrome
Disease variant
Glycoprotein
Neurodegeneration
Proteomics identification
Reference proteome
Transmembrane helix
Ubl conjugation

Proteins

Displaying **all 4** entries
UniProt	Protein Name
A8MU75
Q01453	Growth arrest-specific protein 3
Q6FH25
A0A2R8Y5L5

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 8 in total

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GO Term	Evidence Code	PMID
apoptotic process	IDA	12107182
chemical synaptic transmission	TAS	8275092
peripheral nervous system development	TAS	8275092
negative regulation of cell population proliferation	IEA
negative regulation of neuron projection development	IEA

GO Hierarchy

biological process

cellular process [inference]

cell communication [inference]

cell-cell signaling [inference]

synaptic signaling [inference]

trans-synaptic signaling [inference]

anterograde trans-synaptic signaling [inference]

chemical synaptic transmission

cell death [inference]

programmed cell death [inference]

apoptotic process

cellular developmental process [inference]

cell differentiation

cellular component organization or biogenesis [inference]

cellular component organization [inference]

cellular component assembly [inference]

cellular component assembly involved in morphogenesis [inference]

myelin assembly

cell projection assembly [inference]

plasma membrane bounded cell projection assembly [inference]

bleb assembly

cell projection organization [inference]

cell projection assembly [inference]

plasma membrane bounded cell projection assembly [inference]

bleb assembly

plasma membrane bounded cell projection organization [inference]

plasma membrane bounded cell projection assembly [inference]

bleb assembly

developmental process [inference]

anatomical structure formation involved in morphogenesis [inference]

cellular component assembly involved in morphogenesis [inference]

myelin assembly

anatomical structure development [inference]

system development [inference]

peripheral nervous system development

cellular developmental process [inference]

cell differentiation

biological regulation [inference]

regulation of biological process [inference]

signaling [inference]

cell-cell signaling [inference]

synaptic signaling [inference]

trans-synaptic signaling [inference]

anterograde trans-synaptic signaling [inference]

chemical synaptic transmission

negative regulation of biological process [inference]

negative regulation of cellular process [inference]

negative regulation of cell population proliferation

negative regulation of cellular component organization [inference]

negative regulation of cell projection organization [inference]

negative regulation of neuron projection development

regulation of cellular process [inference]

regulation of cell population proliferation [inference]

negative regulation of cell population proliferation

negative regulation of cellular process [inference]

negative regulation of cell population proliferation

negative regulation of cellular component organization [inference]

negative regulation of cell projection organization [inference]

negative regulation of neuron projection development

regulation of cellular component organization [inference]

regulation of cell projection organization [inference]

negative regulation of cell projection organization [inference]

negative regulation of neuron projection development

regulation of plasma membrane bounded cell projection organization [inference]

regulation of neuron projection development [inference]

negative regulation of neuron projection development

negative regulation of cellular component organization [inference]

negative regulation of cell projection organization [inference]

negative regulation of neuron projection development

Displaying entries **1 - 5** of 6 in total

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GO Term	Evidence Code	PMID
plasma membrane	TAS
plasma membrane	IDA	12107182
plasma membrane	IBA
bicellular tight junction	IEA
compact myelin	IEA

GO Hierarchy

cellular component

cellular anatomical entity [inference]

membrane [inference]

plasma membrane

cell junction [inference]

synapse

anchoring junction [inference]

cell-cell junction [inference]

tight junction [inference]

bicellular tight junction

compact myelin

Displaying 1 entry
GO Term	Evidence Code	PMID
protein binding	IPI	12107182 14709540 25416956 25910212 32296183 32814053

GO Hierarchy

molecular function

binding [inference]

protein binding

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

Peripheral myelin protein 22

Functional Category

L: Replication, recombination and repair
O: Posttranslational modification, protein turnover, chaperones
T: Signal transduction mechanisms

Displaying 1 entry
Gene Ontology
myelin assembly

Displaying **all 2** entries
InterPro
PMP-22/EMP/MP20/Claudin
PMP-22/EMP/MP20

Disease

Disease Ontology

Displaying **all 6** entries
DO ID	Disease Name	Source
DOID:0050540	Charcot-Marie-Tooth disease type 3	Alliance of Genome Resources
DOID:0060843	hereditary neuropathy with liability to pressure palsies	Alliance of Genome Resources
DOID:0110148	Charcot-Marie-Tooth disease type 1A	Alliance of Genome Resources
DOID:0110153	Charcot-Marie-Tooth disease type 1E	Alliance of Genome Resources
DOID:10595	Charcot-Marie-Tooth disease	Alliance of Genome Resources
DOID:12842	Guillain-Barre syndrome	Alliance of Genome Resources