InnateDB Protein
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IDBP-752997.3
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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PRRT2
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Protein Name
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000456226
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InnateDB Gene
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IDBG-24754 (PRRT2)
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Protein Structure
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Function |
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Subcellular Localization |
Cell membrane {ECO:0000269PubMed:22101681}; Multi-pass membrane protein {ECO:0000269PubMed:22101681}. Cell junction, synapse {ECO:0000250}.
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Disease Associations |
Episodic kinesigenic dyskinesia 1 (EKD1) [MIM:128200]: An autosomal dominant 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:0000269PubMed:22101681, ECO:0000269PubMed:22120146, ECO:0000269PubMed:22131361, ECO:0000269PubMed:22209761}. Note=The disease is caused by mutations 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 cytosplasm (PubMed:22101681). {ECO:0000269PubMed:22101681}.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:0000269PubMed:22243967}. Note=The disease is caused by mutations affecting the gene represented in this entry.Seizures, benign familial infantile 2 (BFIS2) [MIM:605751]: An autosomal dominant disorder in which afebrile seizures occur in clusters during the first year of life, without neurologic sequelae. {ECO:0000269PubMed:22243967, ECO:0000269PubMed:22399141, ECO:0000269PubMed:22623405}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
1
[view]
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Protein-Protein |
1
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR007593
CD225/Dispanin family
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PFAM |
PF04505
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q7Z6L0
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PhosphoSite |
PhosphoSite-Q7Z6L0
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TrEMBL |
H3BN10
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UniProt Splice Variant |
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Entrez Gene |
112476
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UniGene |
Hs.655071
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RefSeq |
NP_001243371
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HUGO |
HGNC:30500
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OMIM |
614386
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CCDS |
CCDS58445
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HPRD |
13995
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IMGT |
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EMBL |
AC009133
AK074572
AK092265
AK292393
AL834185
BC011405
BC053594
CH471238
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GenPept |
AAH11405
AAH53594
BAC03843
BAC11067
BAF85082
CAD38881
EAW79991
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