InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: PMP22

Summary

InnateDB Gene

IDBG-31486.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PMP22

Gene Name

peripheral myelin protein 22

Synonyms

CMT1A; CMT1E; DSS; GAS-3; HMSNIA; HNPP; Sp110

Species

Homo sapiens

Ensembl Gene

ENSG00000109099

Encoded Proteins

IDBP-31488

peripheral myelin protein 22

IDBP-238521

peripheral myelin protein 22

IDBP-238523

peripheral myelin protein 22

IDBP-369431

peripheral myelin protein 22

IDBP-763964

IDBP-758135

IDBP-811261

peripheral myelin protein 22

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

This gene encodes an integral membrane protein that is a major component of myelin in the peripheral nervous system. Various mutations of this gene are causes of Charcot-Marie-Tooth disease Type IA, Dejerine-Sottas syndrome, and hereditary neuropathy with liability to pressure palsies. Alternative splicing of this gene results in three transcript variants that encode the same protein. [provided by RefSeq, Jul 2008]
This gene encodes an integral membrane protein that is a major component of myelin in the peripheral nervous system. Studies suggest two alternately used promoters drive tissue-specific expression. Various mutations of this gene are causes of Charcot-Marie-Tooth disease Type IA, Dejerine-Sottas syndrome, and hereditary neuropathy with liability to pressure palsies. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 17:15229777-15265326

Strand

Reverse strand

Band

p12

Transcripts

ENST00000312280	ENSP00000308937
ENST00000395938	ENSP00000379269
ENST00000395936	ENSP00000379268
ENST00000426385	ENSP00000409824
ENST00000494511	ENSP00000462782
ENST00000471150
ENST00000580497
ENST00000580584	ENSP00000464468
ENST00000612492	ENSP00000484631

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.

Experimentally validated
Total	3 [view]
Protein-Protein	3 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding

Biological Process

GO:0007268	synaptic transmission
GO:0007422	peripheral nervous system development
GO:0008219	cell death
GO:0008285	negative regulation of cell proliferation
GO:0010977	negative regulation of neuron projection development
GO:0030154	cell differentiation
GO:0032288	myelin assembly
GO:0042552	myelination

Cellular Component

GO:0005886	plasma membrane
GO:0005923	tight junction
GO:0016021	integral component of membrane
GO:0043218	compact myelin

Orthologs

No orthologs found for this gene

Pathways

NETPATH

REACTOME

KEGG

INOH

PID NCI

a6b1_a6b4_integrin_pathway

a6b1 and a6b4 Integrin signaling

Cross-References

SwissProt

Q01453

TrEMBL

B4DUL1 Q6FH25

UniProt Splice Variant

Entrez Gene

5376

UniGene

Hs.372031 Hs.619083

RefSeq

NM_000304 NM_001281456 NM_001281455 NM_153321 NM_153322

HUGO

HGNC:9118

OMIM

601097

CCDS

CCDS11168

HPRD

03059

IMGT

EMBL

AK290640 AK300690 BC019040 BC091499 CR541931 CR541953 D11428 L03203 M94048 S61788 X65968

GenPept

AAA36457 AAA58495 AAB26811 AAH19040 AAH91499 BAA01995 BAF83329 BAG62373 CAA46781 CAG46729 CAG46751

RNA Seq Atlas

5376