| Type | Description |
|---|---|
| Definition | junctophilin 2 |
| Date | Results | Publications |
|---|---|---|
| 2020-11-21 13:34:00 | Analysis of enriched rare variants in JPH2-encoded junctophilin-2 among Greater Middle Eastern individuals reveals a novel homozygous variant associated with neonatal dilated cardiomyopathy. | 31227780 |
| 2020-08-29 12:46:00 | Junctophilin-2 expression rescues atrial dysfunction through polyadic junctional membrane complex biogenesis. | 31217359 |
| 2020-04-04 11:16:00 | The palmitoylatable Cys residues in JPH2 are conserved in other JPHs, suggesting that palmitoylation may also enhance ER/SR-PM tethering by these proteins. | 31337710 |
| 2019-07-20 10:04:00 | Junctophilin 2, as junctional membrane complex (JMC) protein, is an important regulator of the cardiac SK channels | 29055091 |
| 2019-02-23 10:51:00 | the heterozygous JPH2 p.(Thr161Lys) variant is a new Finnish mutation causing atypical hypertrophic cardiomyopathy. | 30235249 |
| Type | IDs |
|---|---|
| Synonymous | CMH17, JP-2, JP2 |
| Gene |
UniProtKB-ID:
JPH2_HUMAN,
Q86VZ3_HUMAN
UniprotKB:
Q9BR39,
Q86VZ3
UniParc:
UPI00001C1D57,
UPI000012DAC2,
UPI000002AC67
EMBL:
BC043206,
AL034419,
CH471077,
AL035447,
AL132999
Ensembl:
ENSG00000149596
KO:
hsa:57158
|
| Nucleutide sequences |
EMBL-CDS:
CAB61347.1,
EAW75943.1,
EAW75940.1,
AAH43206.2
Ensembl_TRS:
ENST00000372980,
ENST00000342272
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000362071,
ENSP00000344590
RefSeq:
XP_006723896.1,
NP_787109.2,
NP_065166.2
|
| Others |
UniRef100:
UniRef100_Q9BR39
UniRef90:
UniRef90_Q9BR39
UniRef50:
UniRef50_Q9BR39
UniGene:
Hs.441737
CCDS:
CCDS13325.1,
CCDS13326.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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