PRRT2
entrez
112476
canonical
uniprot
Q7Z6L0
canonical
ensembl
ENSG00000167371
resolver
ensp
ENSP00000300797
resolver
ensp
ENSP00000351608
resolver
ensp
ENSP00000456226
resolver
ensp
ENSP00000458291
resolver
ensp
ENSP00000498021
resolver
ensp
ENSP00000531937
resolver
genesymbol
PRRT2
resolver
hgnc
HGNC:30500
resolver
uniprot
A8K8M8
resolver
uniprot
Q8N2N8
resolver
uniprot
Q8NAQ7
resolver
uniprot
Q8ND36
resolver
uniprot
Q96FA8
resolver
uniprot_entry
PRRT2_HUMAN
resolver
uniprot_sec
A8K8M8
resolver
uniprot_sec
Q8N2N8
resolver
uniprot_sec
Q8NAQ7
resolver
uniprot_sec
Q8ND36
resolver
uniprot_sec
Q96FA8
resolver
amino_acid_sequence
MAASSSEISEMKGVEESPKVPGEGPGHSEAETGPPQVLAGVPDQPEAPQPGPNTTAAPVDSGPKAGLAPETTETPAGASETAQATDLSLSPGGESKANCSPEDPCQETVSKPEVSKEATADQGSRLESAAPPEPAPEPAPQPDPRPDSQPTPKPALQPELPTQEDPTPEILSESVGEKQENGAVVPLQAGDGEEGPAPEPHSPPSKKSPPANGAPPRVLQQLVEEDRMRRAHSGHPGSPRGSLSRHPSSQLAGPGVEGGEGTQKPRDYIILAILSCFCPMWPVNIVAFAYAVMSRNSLQQGDVDGAQRLGRVAKLLSIVALVGGVLIIIASCVINLGVYK
uniprot
proteins
disease_involvement
DISEASE: Episodic kinesigenic dyskinesia 1 (EKD1) [MIM:128200]: An autosomal dominant form of paroxysmal kinesigenic dyskinesia, a neurologic condition characterized by recurrent and brief attacks of abnormal involuntary movements, triggered by sudden voluntary movement. These attacks usually have onset during childhood or early adulthood and can involve dystonic postures, chorea, or athetosis. {ECO:0000269|PubMed:22101681, ECO:0000269|PubMed:22120146, ECO:0000269|PubMed:22131361, ECO:0000269|PubMed:22209761, ECO:0000269|PubMed:25915028, ECO:0000269|PubMed:27172900}. Note=The disease is caused by variants affecting the gene represented in this entry. Disease-causing mutations that produce truncation of the C-terminus of the protein alter subcellular location, from plasma membrane to cytoplasm (PubMed:22101681). {ECO:0000269|PubMed:22101681}.; DISEASE: Convulsions, familial infantile, with paroxysmal choreoathetosis (ICCA) [MIM:602066]: A syndrome characterized by clinical features of benign familial infantile seizures and episodic kinesigenic dyskinesia. Benign familial infantile seizures is a disorder characterized by afebrile seizures occurring during the first year of life, without neurologic sequelae. Paroxysmal choreoathetosis is a disorder of involuntary movements characterized by attacks that occur spontaneously or are induced by a variety of stimuli. {ECO:0000269|PubMed:22243967, ECO:0000269|PubMed:22832103}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Seizures, benign familial infantile, 2 (BFIS2) [MIM:605751]: A form of benign familial infantile epilepsy, a neurologic disorder characterized by afebrile seizures occurring in clusters during the first year of life, without neurologic sequelae. BFIS2 inheritance is autosomal dominant. {ECO:0000269|PubMed:22243967, ECO:0000269|PubMed:22399141, ECO:0000269|PubMed:22623405}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: As a component of the outer core of AMPAR complex, may be involved in synaptic transmission in the central nervous system. In hippocampal neurons, in presynaptic terminals, plays an important role in the final steps of neurotransmitter release, possibly by regulating Ca(2+)-sensing. In the cerebellum, may inhibit SNARE complex formation and down-regulate short-term facilitation. {ECO:0000250|UniProtKB:E9PUL5}.
uniprot
proteins
mass_dalton
34945
uniprot
proteins
protein_family
CD225/Dispanin family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16303743
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
22101681
uniprot
proteins
pubmed
22120146
uniprot
proteins
pubmed
22131361
uniprot
proteins
pubmed
22209761
uniprot
proteins
pubmed
22243967
uniprot
proteins
pubmed
22363774
uniprot
proteins
pubmed
22399141
uniprot
proteins
pubmed
22623405
uniprot
proteins
pubmed
22832103
uniprot
proteins
pubmed
25915028
uniprot
proteins
pubmed
27172900
uniprot
proteins
sequence_length
340
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:22101681, ECO:0000269|PubMed:25915028, ECO:0000269|PubMed:27172900}; Single-pass membrane protein {ECO:0000250|UniProtKB:E9PUL5}. Presynaptic cell membrane {ECO:0000250|UniProtKB:E9PUL5}; Single-pass membrane protein {ECO:0000250|UniProtKB:E9PUL5}. Synapse {ECO:0000250|UniProtKB:E9PUL5}. Cell projection, axon {ECO:0000269|PubMed:22832103}. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane {ECO:0000250|UniProtKB:D3ZFB6}. Postsynaptic density membrane {ECO:0000250|UniProtKB:D3ZFB6}. Cell projection, dendritic spine {ECO:0000250|UniProtKB:D3ZFB6}.
uniprot
proteins
transmembrane_region
TRANSMEM 318..338; /note="Helical"; /evidence="ECO:0000250|UniProtKB:E9PUL5, ECO:0000255
uniprot
proteins