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The protein encoded by this gene belongs to the PMP-22/EMP/MP20 family of proteins. The protein contains four transmembrane domains and two N-linked glycosylation sites. It is thought to be involved in cell proliferation, cell-cell interactions and function as a tumor suppressor. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
EMP3 (Epithelial Membrane Protein 3) is a Protein Coding gene. Diseases associated with EMP3 include Charcot-Marie-Tooth Disease, Axonal, Type 2B2 and Subglottis Neoplasm. An important paralog of this gene is PMP22.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 12107182 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | IBA,IDA | 12107182 |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0008219 | cell death | IDA | 12107182 |
GO:0032060 | bleb assembly | IDA | 12107182 |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | · | 4c | · | 4d | ^ | 5 | ^ | 6a | · | 6b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||
SP4: | - | - | - | - | |||||||||||||||||||
SP5: | - | - | - | ||||||||||||||||||||
SP6: | - | ||||||||||||||||||||||
SP7: | - | - | - | - | - | - |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | EMP3 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | EMP3 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | EMP3 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Emp3 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Emp3 30 |
|
||
Lizard (Anolis carolinensis) |
Reptilia | EMP3 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | emp3 30 |
|
||
Str.8279 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | emp3-prov 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | zgc:114127 30 |
|
||
EMP3 (2 of 2) 31 |
|
OneToMany | |||
EMP3 (1 of 2) 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs4893 | - | p.Ile125Val |
Disorder | Aliases | PubMed IDs |
---|---|---|
charcot-marie-tooth disease, axonal, type 2b2 |
|
|
subglottis neoplasm |
|
|
adult oligodendroglioma |
|
|
charcot-marie-tooth disease |
|
|
giant cell glioblastoma |
|
|