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This gene encodes a transmembrane protein containing a proline-rich domain in its N-terminal half. Studies in mice suggest that it is predominantly expressed in brain and spinal cord in embryonic and postnatal stages. Mutations in this gene are associated with episodic kinesigenic dyskinesia-1. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
PRRT2 (Proline Rich Transmembrane Protein 2) is a Protein Coding gene. Diseases associated with PRRT2 include Episodic Kinesigenic Dyskinesia 1 and Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis. An important paralog of this gene is ENSG00000280893.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0017075 | syntaxin-1 binding | ISS | -- |
GO:0017124 | SH3 domain binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | IEA,IDA | -- |
GO:0008021 | synaptic vesicle | ISS | -- |
GO:0016020 | membrane | IBA | 21873635 |
GO:0016021 | integral component of membrane | IEA | -- |
GO:0030054 | cell junction | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0031629 | synaptic vesicle fusion to presynaptic active zone membrane | ISS | -- |
GO:0035544 | negative regulation of SNARE complex assembly | ISS | -- |
GO:0050884 | neuromuscular process controlling posture | IMP | 22101681 |
GO:0099502 | calcium-dependent activation of synaptic vesicle fusion | IEA | -- |
GO:1905513 | negative regulation of short-term synaptic potentiation | ISS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
bryostatin | Pharma | inhibitor | 0 |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | · | 1f | ^ | 2a | · | 2b | ^ | 3a | · | 3b | · | 3c | · | 3d | ^ | 4a | · | 4b | ^ | 5a | · | 5b | ^ | 6a | · | 6b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||||||||||||||
SP3: | - | ||||||||||||||||||||||||||||||||||
SP4: | - | - | - | ||||||||||||||||||||||||||||||||
SP5: | - | - | |||||||||||||||||||||||||||||||||
SP6: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PRRT2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | PRRT2 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Prrt2 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Prrt2 30 17 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | PRRT2 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | PRRT2 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | PRRT2 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | PRRT2 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 16 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
31173 | Pathogenic: Seizures, benign familial infantile, 2 | 29,813,938(+) | G/A | MISSENSE_VARIANT,INTRON_VARIANT | |
639189 | Uncertain Significance: Paroxysmal kinesigenic dyskinesia | 29,814,631(+) | A/G | MISSENSE_VARIANT,THREE_PRIME_UTR_VARIANT | |
639782 | Uncertain Significance: Paroxysmal kinesigenic dyskinesia | 29,813,925(+) | G/A | MISSENSE_VARIANT | |
640387 | Pathogenic: Paroxysmal kinesigenic dyskinesia | 29,813,353(+) | GC/G | FRAMESHIFT_VARIANT | |
641115 | Uncertain Significance: Paroxysmal kinesigenic dyskinesia | 29,813,487(+) | C/T | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
episodic kinesigenic dyskinesia 1 |
|
|
convulsions, familial infantile, with paroxysmal choreoathetosis |
|
|
seizures, benign familial infantile, 2 |
|
|
benign familial infantile epilepsy |
|
|
paroxysmal nonkinesigenic dyskinesia 1 |
|