Type | Description |
---|---|
Definition | junctophilin 3 |
Date | Results | Publications |
---|---|---|
2018-03-10 11:17:00 | Thus, JPH3 was identified as a novel tumor suppressor gene methylated in colorectal and gastric tumors which promotes mitochondrial-mediated apoptosis, also as a potential metastasis and survival biomarker for digestive cancers. | 28656064 |
2017-09-23 10:59:00 | The expression of JPH isoforms was examined in human and mouse pancreatic tissues, and JPH3 expression was found in both the beta cells. | 27336719 |
2017-06-03 11:44:00 | This study identified that abnormal CTG expansions in JPH3 in patient with Huntington Disease. | 27400454 |
2016-06-28 10:41:00 | The present study aimed to characterize the genetic basis of the Huntington disease phenotype in South Africans and to investigate the possible origin of the JPH3 mutation. | 26079385 |
2012-09-01 11:22:00 | JPH3 mutations should be considered in the differential diagnosis of early-onset dementia and hypokinetic-rigid syndromes in individuals of African descent. | 22447335 |
Type | IDs |
---|---|
Synonymous | CAGL237, HDL2, JP-3, JP3, TNRC22 |
Gene |
UniProtKB-ID:
JPH3_HUMAN,
Q96HD8_HUMAN,
B4DIC1_HUMAN,
F8W9A3_HUMAN
UniprotKB:
Q8WXH2,
Q96HD8,
B4DIC1,
F8W9A3
UniParc:
UPI000012DAC4,
UPI00017A72AB,
UPI00000715AF,
UPI000002AC68,
UPI00004569D5
EMBL:
AB042640,
BE042890,
BC008690,
CH471114,
BC036533,
AB042636,
AB593088,
AF429315,
AK295518
Ensembl:
ENSG00000154118
KO:
hsa:57338
|
Nucleutide sequences |
EMBL-CDS:
EAW95387.1,
BAB11987.1,
AAH36533.1,
AAL40941.1,
BAB11983.1,
EAW95386.1,
AAH08690.1,
BAG58433.1,
BAJ84028.1
Ensembl_TRS:
ENST00000284262
|
Protein sequencees |
Ensembl_PRO:
ENSP00000284262
RefSeq:
NP_001258534.1,
NP_001258533.1,
NP_065706.2
|
Others |
UniRef100:
UniRef100_Q8WXH2,
UniRef100_F8W9A3,
UniRef100_Q96HD8
UniRef90:
UniRef90_Q8WXH2-2,
UniRef90_Q96HD8,
UniRef90_Q8WXH2
UniRef50:
UniRef50_Q8WXH2-2,
UniRef50_Q96HD8,
UniRef50_Q8WXH2
UniGene:
Hs.592068,
Hs.733790
CCDS:
CCDS10962.1
|
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Refseq |
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