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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 and Neuroblastoma 1. 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:0016049 | cell growth | IEA | -- |
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 33 32 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | EMP3 33 32 |
|
OneToOne | |
cow (Bos Taurus) |
Mammalia | EMP3 33 32 |
|
OneToOne | |
mouse (Mus musculus) |
Mammalia | Emp3 17 33 32 |
|
||
rat (Rattus norvegicus) |
Mammalia | Emp3 32 |
|
||
lizard (Anolis carolinensis) |
Reptilia | EMP3 33 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | emp3 32 |
|
||
Str.8279 32 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | emp3-prov 32 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | zgc:114127 32 |
|
||
EMP3 (2 of 2) 33 |
|
OneToMany | |||
EMP3 (1 of 2) 33 |
|
OneToMany |
SNP ID | Clin | Chr 19 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1000049741 | -- | 48,325,625(+) | C/T | genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant | |
rs1000103620 | -- | 48,330,695(+) | G/A/T | downstream_transcript_variant | |
rs1000622336 | -- | 48,330,970(+) | C/G | downstream_transcript_variant | |
rs1000910810 | -- | 48,325,120(+) | C/A | upstream_transcript_variant | |
rs1001354085 | -- | 48,330,181(+) | A/C/G | intron_variant |
Disorder | Aliases | PubMed IDs |
---|---|---|
charcot-marie-tooth disease |
|
|
neuroblastoma 1 |
|
|