Gene Report

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Basic Info

Approved Symbol	PTRH2
Symbol Alias	BIT1, CGI-147, PTH2, CFAP37
Approved Name	peptidyl-tRNA hydrolase 2
Name Alias	Bcl-2 inhibitor of transcription, "cilia and flagella associated protein 37"
Location	17q23.2
Position	chr17:59674636-59707626, -1
External Links	HGNC: 24265 Entrez Gene: 51651 Ensembl: ENSG00000141378 UCSC: uc002ixt.3
No. of Studies	1 (Positive: 0; Negative: 0; trend: 1)
Overlap with SZ?	NO
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Georgieva, L., 2014		A de novo CNV in this gene was detected in BD.	Trend	Comment on Study

Gene functional annotation

Gene related GO terms (count: 10)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0016020	membrane	cellular component	IDA[19946888]	137

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0010629	negative regulation of gene expression	biological process	IMP[15006356]	12
GO:0008152	metabolic process	biological process	IBA; IEA	50
GO:2000210	positive regulation of anoikis	biological process	IMP[15006356]	1
GO:0005515	protein binding	molecular function	IPI[15006356]	563
GO:0006915	apoptotic process	biological process	IEA	39
GO:0005739	mitochondrion	cellular component	IDA; IMP[22952044]	75
GO:0004045	aminoacyl-tRNA hydrolase activity	molecular function	IBA	1
GO:2000811	negative regulation of anoikis	biological process	IMP[21383007]	3
GO:0005829	cytosol	cellular component	IMP[15006356]	223

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 1)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
PTRH2	AES	NO	in vitro;in vivo;yeast 2-hybrid	15006356

Related other genetic factors

Gene related SNPs (count: 0)

Gene related CNVs (count: 1)

ID	Location	Size	Band	Type	Inheritance
CNV_Lyudmila Georgieva[2014]_11	chr17:57696973-57779678 (UCSC build 37, hg19)	82705	17q23.1	deletion

Gene related other variants (count: 0)

Gene related regions (count: 4)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
17q11-q23	chr17:25100000-64600000	1 (0/1/0)
17q23-q24	chr17:59500000-72900000	1 (0/1/0)
17q11-25	chr17:25100000-83257441	1 (1/0/0)
Chr 17	chr17:0-83257441	3 (0/3/0)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Gene relationship with MDD

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Region: chr17:59674636..59707626 View in gBrowse