Gene Report

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Basic Info

Approved Symbol	PTBP2
Symbol Alias	brPTB, nPTB, PTB, PTBLP
Approved Name	polypyrimidine tract binding protein 2
Location	1p21.3
Position	chr1:96721665-96823738, 1
External Links	HGNC: 17662 Entrez Gene: 58155 Ensembl: ENSG00000117569 UCSC: uc001drq.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
Yosifova, A.,2011	SNP: rs10875032	Suggestive association of this gene was found.	Trend	Comment on Study

Gene functional annotation

Gene related GO terms (count: 7)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0006376	mRNA splice site selection	biological process	IEA	2
GO:2000177	regulation of neural precursor cell proliferation	biological process	IEA	2
GO:0005681	spliceosomal complex	cellular component	IEA	6
GO:0003729	mRNA binding	molecular function	IEA	5
GO:0044822	poly(A) RNA binding	molecular function	IDA[22658674]	44
GO:0000166	nucleotide binding	molecular function	IEA	17
GO:0033119	negative regulation of RNA splicing	biological process	IDA[18335065]	1

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 3)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
PTBP2	CALCOCO2	NO	yeast 2-hybrid	16189514
PTBP2	RBM10	NO	yeast 2-hybrid	16189514
PTBP2	PCBP3	NO	yeast 2-hybrid	16713569

Related other genetic factors

Gene related SNPs (count: 14)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs10875032	chr1:96732775 - 96732775(1)	intron_variant; non_coding_transcript_variant	1(0/0/1)

rs_ID	Location	Functional Annotation
rs4949941	chr1:96718297 - 96718297(1)	upstream_gene_variant
rs7552545	chr1:96722838 - 96722838(1)	intron_variant; non_coding_transcript_variant
rs7531045	chr1:96723003 - 96723003(1)	intron_variant; non_coding_transcript_variant
rs3762411	chr1:96723535 - 96723535(1)	intron_variant; non_coding_transcript_variant
rs6661004	chr1:96730928 - 96730928(1)	intron_variant; non_coding_transcript_variant
rs2088251	chr1:96738647 - 96738647(1)	intron_variant; non_coding_transcript_variant
rs273877	chr1:96750780 - 96750780(1)	intron_variant; non_coding_transcript_variant
rs7548031	chr1:96761217 - 96761217(1)	intron_variant; non_coding_transcript_variant
rs273876	chr1:96755215 - 96755215(1)	intron_variant; non_coding_transcript_variant
rs541461	chr1:96787385 - 96787385(1)	intron_variant; non_coding_transcript_variant
rs3762409	chr1:96770574 - 96770574(1)	intron_variant; non_coding_transcript_variant
rs273885	chr1:96814136 - 96814136(1)	3_prime_UTR_variant; downstream_gene_variant
rs6683362	chr1:96790216 - 96790216(1)	intron_variant; non_coding_transcript_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 5)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
1p21	chr1:94300000-106700000	1 (0/1/0)
1p22-p21	chr1:84400000-106700000	1 (0/0/1)
1p22-21	chr1:84400000-106700000	1 (0/0/1)
1p32.1-q31.1	chr1:58500000-190800000	1 (0/1/0)
Chr 1	chr1:0-248956422	2 (0/2/0)

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

Gene relationship with SZ

Gene relationship with MDD

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Region: chr1:96721665..96823738 View in gBrowse