Identity
HGNC
LOCATION
17q23.1
LOCUSID
ALIAS
BIT1,CFAP37,CGI-147,IMNEPD,PTH,PTH
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 51651
MIM: 608625
HGNC: 24265
Ensembl: ENSG00000141378
Variants:
dbSNP: 51651
ClinVar: 51651
TCGA: ENSG00000141378
COSMIC: PTRH2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000141378 | ENST00000393038 | Q9Y3E5 |
| ENSG00000141378 | ENST00000409433 | J3KQ48 |
| ENSG00000141378 | ENST00000470557 | Q9Y3E5 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37239392 | 2023 | PTRH2 Gene Variants: Recent Review of the Phenotypic Features and Their Bioinformatics Analysis. | 0 |
| 37239392 | 2023 | PTRH2 Gene Variants: Recent Review of the Phenotypic Features and Their Bioinformatics Analysis. | 0 |
| 35737738 | 2022 | Bit1 is involved in regulation between integrin and TGFβ signaling in lens epithelial cells. | 0 |
| 35737738 | 2022 | Bit1 is involved in regulation between integrin and TGFβ signaling in lens epithelial cells. | 0 |
| 31057140 | 2019 | Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease: Case and Review. | 9 |
| 31368047 | 2019 | Bit1-a novel regulator of astrocyte function during retinal development: proliferation, migration, and paracrine effects on vascular endothelial cell. | 2 |
| 31057140 | 2019 | Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease: Case and Review. | 9 |
| 31368047 | 2019 | Bit1-a novel regulator of astrocyte function during retinal development: proliferation, migration, and paracrine effects on vascular endothelial cell. | 2 |
| 29170133 | 2018 | Downregulation of Bit1 expression promotes growth, anoikis resistance, and transformation of immortalized human bronchial epithelial cells via Erk activation-dependent suppression of E-cadherin. | 7 |
| 29170133 | 2018 | Downregulation of Bit1 expression promotes growth, anoikis resistance, and transformation of immortalized human bronchial epithelial cells via Erk activation-dependent suppression of E-cadherin. | 7 |
| 28175314 | 2017 | PTRH2 gene mutation causes progressive congenital skeletal muscle pathology. | 7 |
| 28328138 | 2017 | Homozygous mutation in PTRH2 gene causes progressive sensorineural deafness and peripheral neuropathy. | 7 |
| 28488526 | 2017 | Preliminary evaluation for Bit1 as a potential biomarker for squamous cell carcinoma and adenocarcinoma of esophagus. | 0 |
| 28175314 | 2017 | PTRH2 gene mutation causes progressive congenital skeletal muscle pathology. | 7 |
| 28328138 | 2017 | Homozygous mutation in PTRH2 gene causes progressive sensorineural deafness and peripheral neuropathy. | 7 |
Citation
Dessen P
PTRH2 (peptidyl-tRNA hydrolase 2)
Atlas Genet Cytogenet Oncol Haematol. 2009-09-01
Online version: http://atlasgeneticsoncology.org/gene/51070/ptrh2-(peptidyl-trna-hydrolase-2)
