| Type | Description |
|---|---|
| Definition | peptidyl-tRNA hydrolase 2 |
| Date | Results | Publications |
|---|---|---|
| 2020-06-06 12:45:00 | We report three brothers born to consanguineous parents of Syrian descent, with a homozygous novel c.324G>A (p.W108*) mutation in PTRH2 that encodes peptidyl-tRNA hydrolase 2, causing infantile-onset multisystem neurologic, endocrine, and pancreatic disease | 31057140 |
| 2020-02-29 10:45:00 | Bit1 may serve as a novel regulator of astrocyte biological behaviors interplaying with vascular endothelial cell during retinal development. | 31368047 |
| 2018-02-17 11:43:00 | studies indicate Bit1 is an inhibitor of EMT and metastasis in lung cancer and hence can serve as a molecular target in curbing lung cancer aggressiveness | 27655370 |
| 2017-12-30 11:05:00 | These collective findings indicate that loss of Bit1 expression contributes to the acquisition of malignant phenotype of human lung epithelial cells via Erk activation-induced suppression of E-cadherin expression. | 29170133 |
| 2017-12-09 12:30:00 | This study reports on five infantile-onset multisystem neurologic, endocrine, and pancreatic disease (IMNEPD) patients with a different homozygous PTRH2 mutation, broaden the phenotypic spectrum of the disease and differentiate common symptoms and interindividual variability in IMNEPD associated with a unique mutation. | 27129381 |
| Type | IDs |
|---|---|
| Synonymous | BIT1, CFAP37, CGI-147, IMNEPD, PTH, PTH 2, PTH2 |
| Gene |
UniProtKB-ID:
PTH2_HUMAN,
J3KQ48_HUMAN
UniprotKB:
Q9Y3E5,
J3KQ48
UniParc:
UPI000013A5FA,
UPI000049438A
EMBL:
AK098219,
AC091271,
AL137322,
CH471109,
BC006807,
AF151905
Ensembl:
ENSG00000141378
KO:
hsa:51651
|
| Nucleutide sequences |
EMBL-CDS:
BAG53596.1,
EAW94394.1,
AAH06807.1,
AAD34142.1,
CAB70696.1
Gene_ORFName:
CGI-147
Ensembl_TRS:
ENST00000470557,
ENST00000393038,
ENST00000409433
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000376758,
ENSP00000464327,
ENSP00000387180
RefSeq:
NP_001015509.1,
NP_057161.1,
XP_011523189.1
|
| Others |
UniRef100:
UniRef100_Q9Y3E5
UniRef90:
UniRef90_Q9Y3E5
UniRef50:
UniRef50_Q9Y3E5
UniGene:
Hs.12677
CCDS:
CCDS11618.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| 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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