| Type | Description |
|---|---|
| Definition | proline rich transmembrane protein 2 |
| Date | Results | Publications |
|---|---|---|
| 2021-01-16 15:55:00 | Clinical spectrum and genotype-phenotype correlations in PRRT2 Italian patients. | 32651081 |
| 2020-09-05 13:53:00 | PRRT2 frameshift mutation reduces its mRNA stability resulting loss of function in paroxysmal kinesigenic dyskinesia. | 31785815 |
| 2020-05-02 11:36:00 | In 2 families with paroxysmal kinesigenic dyskinesia and epilepsy, 2 novel PRRT2 variants, p.His232Glnfs*10 and p.Leu298Pro, were found which caused impaired localization of both mutant proteins to the plasma membrane. Other reported missense variants revealed decreased protein targeting to the plasma membrane in eight of the 13 missense variants examined, but not in benign variants. | 30980674 |
| 2020-03-07 11:01:00 | in Japanese patients with benign infantile epilepsy and paroxysmal kinesigenic dyskinesia, the PRRT2 c.649dupC mutation was the most frequent, followed by the c.981C > G mutation. | 31154286 |
| 2020-01-18 12:15:00 | two novel variants c.282dupA and c.715_716dupCC probably underlie paroxysmal kinesigenic dyskinesia in the two children. | 31922585 |
| Type | IDs |
|---|---|
| Synonymous | BFIC2, BFIS2, DSPB3, DYT10, EKD1, FICCA, ICCA, IFITMD1, PKC |
| Gene |
UniProtKB-ID:
PRRT2_HUMAN
UniprotKB:
Q7Z6L0
UniParc:
UPI00001A946B,
UPI000006F0D6,
UPI00000712B6
EMBL:
AK074572,
AK292393,
AK092265,
BC053594,
BC011405,
CH471238,
AL834185
Ensembl:
ENSG00000167371
KO:
hsa:112476
|
| Nucleutide sequences |
EMBL-CDS:
BAC03843.1,
BAF85082.1,
EAW79991.1,
AAH53594.1,
BAC11067.1,
AAH11405.1,
CAD38881.1
Ensembl_TRS:
ENST00000647876,
ENST00000567659,
ENST00000636131,
ENST00000572820,
ENST00000300797,
ENST00000637064,
ENST00000358758
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000490826,
ENSP00000456226,
ENSP00000490390,
ENSP00000458291,
ENSP00000300797,
ENSP00000498021,
ENSP00000351608
RefSeq:
XP_016878377.1,
XP_011544017.1,
NP_001243372.1,
NP_660282.2,
XP_016878376.1,
NP_001243371.1,
XP_016878378.1
|
| Others |
UniRef100:
UniRef100_Q7Z6L0
UniRef90:
UniRef90_Q7Z6L0
UniRef50:
UniRef50_Q7Z6L0
UniGene:
Hs.655071
CCDS:
CCDS58445.1,
CCDS58446.1,
CCDS10654.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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