Gene Report

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Basic Info

Approved Symbol	CSRNP2
Previous Symbol	C12orf22, FAM130A1
Symbol Alias	C12ORF2, TAIP-12, PPP1R72
Approved Name	cysteine-serine-rich nuclear protein 2
Previous Name	chromosome 12 open reading frame 22, "family with sequence similarity 130, member A1"
Name Alias	protein phosphatase 1, regulatory subunit 72
Location	12q13.11-q13.12
Position	chr12:51061205-51083664, -1
External Links	HGNC: 16006 Entrez Gene: 81566 Ensembl: ENSG00000110925 UCSC: uc001rxu.2
No. of Studies	1 (Positive: 0; Negative: 1; trend: 0)
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
Strauss, K. A., 2014	SNP: rs11542510	The associated SNP in this gene showed no significant association with BD.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 10)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0043565	sequence-specific DNA binding	molecular function	IEA	29
GO:0005634	nucleus	cellular component	IDA[19389623]; ISS[17726538]	283
GO:0003700	sequence-specific DNA binding transcription factor activity	molecular function	ISS[17726538]	66

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0006915	apoptotic process	biological process	IEA	39
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	biological process	ISS[17726538]	91
GO:0001228	RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	molecular function	IEA	5
GO:0010923	negative regulation of phosphatase activity	biological process	IDA[19389623]	5
GO:0019902	phosphatase binding	molecular function	IDA[19389623]	9
GO:0006351	transcription, DNA-templated	biological process	IEA	103
GO:0005515	protein binding	molecular function	IPI[15231748]	563

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
CSRNP2	PPP1CA	NO	yeast 2-hybrid	15231748

Related other genetic factors

Gene related SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs11542510	chr12:51064071 - 51064071(1)	downstream_gene_variant; missense_variant	1(0/1/0)

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 2)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 12	chr12:0-133275309	3 (0/3/0)
12q	chr12:38200000-133851895	1 (1/0/0)

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

Gene relationship with SZ

Gene relationship with MDD

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Region: chr12:51061205..51083664 View in gBrowse