PTRH2 (peptidyl-tRNA hydrolase 2)

2009-09-01  

Identity

HGNC
PTRH2
LOCATION
17q23.1
LOCUSID
51651
ALIAS
BIT1,CFAP37,CGI-147,IMNEPD,PTH,PTH
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 51651
MIM: 608625
HGNC: 24265
Ensembl: ENSG00000141378

Variants:

dbSNP: 51651
ClinVar: 51651
TCGA: ENSG00000141378
COSMIC: PTRH2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000141378ENST00000393038Q9Y3E5
ENSG00000141378ENST00000409433J3KQ48
ENSG00000141378ENST00000470557Q9Y3E5

Expression (GTEx)

0
5
10
15
20
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
DeubiquitinationREACTOMER-HSA-5688426
Ub-specific processing proteasesREACTOMER-HSA-5689880

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
372393922023PTRH2 Gene Variants: Recent Review of the Phenotypic Features and Their Bioinformatics Analysis.0
372393922023PTRH2 Gene Variants: Recent Review of the Phenotypic Features and Their Bioinformatics Analysis.0
357377382022Bit1 is involved in regulation between integrin and TGFβ signaling in lens epithelial cells.0
357377382022Bit1 is involved in regulation between integrin and TGFβ signaling in lens epithelial cells.0
310571402019Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease: Case and Review.9
313680472019Bit1-a novel regulator of astrocyte function during retinal development: proliferation, migration, and paracrine effects on vascular endothelial cell.2
310571402019Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease: Case and Review.9
313680472019Bit1-a novel regulator of astrocyte function during retinal development: proliferation, migration, and paracrine effects on vascular endothelial cell.2
291701332018Downregulation of Bit1 expression promotes growth, anoikis resistance, and transformation of immortalized human bronchial epithelial cells via Erk activation-dependent suppression of E-cadherin.7
291701332018Downregulation of Bit1 expression promotes growth, anoikis resistance, and transformation of immortalized human bronchial epithelial cells via Erk activation-dependent suppression of E-cadherin.7
281753142017PTRH2 gene mutation causes progressive congenital skeletal muscle pathology.7
283281382017Homozygous mutation in PTRH2 gene causes progressive sensorineural deafness and peripheral neuropathy.7
284885262017Preliminary evaluation for Bit1 as a potential biomarker for squamous cell carcinoma and adenocarcinoma of esophagus.0
281753142017PTRH2 gene mutation causes progressive congenital skeletal muscle pathology.7
283281382017Homozygous 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)