Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

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Basic Info

Approved Symbol	PAWR
Symbol Alias	par-4, PAR4
Approved Name	PRKC, apoptosis, WT1, regulator
Name Alias	prostate apoptosis response-4
Location	12q21.2
Position	chr12:79574979-79691097, -1
External Links	HGNC: 8614 Entrez Gene: 5074 Ensembl: ENSG00000177425 UCSC: uc001syx.3
No. of Studies	1 (Positive: 0; Negative: 1; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	YES

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Kishi, T., 2008 (a)	SNP: rs17005769, rs2400546, rs2463169, rs4842318, rs7305141 Haplotype: rs2463169 - rs2400546 - rs17005769 - rs4842318 - rs7305141(), rs2463169 - rs2400546 - rs17005769 - rs4842318 - rs7305141(GAGTA), rs2463169 - rs2400546 - rs17005769 - rs4842318 - rs7305141(GAACG), rs2463169 - rs2400546 - rs17005769 - rs4842318 - rs7305141(ATGCA), rs2463169 - rs2400546 - rs17005769 - rs4842318 - rs7305141(GAGCG), rs2463169 - rs2400546 - rs17005769 - rs4842318 - rs7305141(AAGCA)	Our results suggest that the PAWR does not play a major role in schizophrenia or mood disorders in the Japanese population.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 22)

GO terms by PBA (count: 4)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005634	nucleus	cellular component	IDA[14627703]	283
GO:0003779	actin binding	molecular function	ISS	24
GO:0003714	transcription corepressor activity	molecular function	TAS[8943350]	21
GO:0005886	plasma membrane	cellular component	IDA	360

GO terms by database search (count: 18)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0043065	positive regulation of apoptotic process	biological process	NAS[11585763]	25
GO:0005515	protein binding	molecular function	IPI[11755531]	563
GO:0005737	cytoplasm	cellular component	IDA[14627703]	322
GO:0043522	leucine zipper domain binding	molecular function	IPI[14627703]	2
GO:0015629	actin cytoskeleton	cellular component	IDA	18
GO:0042094	interleukin-2 biosynthetic process	biological process	IEA	1
GO:0005884	actin filament	cellular component	ISS	9
GO:0008285	negative regulation of cell proliferation	biological process	TAS[8943350]	41
GO:0006915	apoptotic process	biological process	ISS	39
GO:0042986	positive regulation of amyloid precursor protein biosynthetic process	biological process	IEA	1
GO:0097190	apoptotic signaling pathway	biological process	IEA	13
GO:0006351	transcription, DNA-templated	biological process	IEA	103
GO:0030889	negative regulation of B cell proliferation	biological process	IEA	5
GO:0042130	negative regulation of T cell proliferation	biological process	IEA	6
GO:0050860	negative regulation of T cell receptor signaling pathway	biological process	IEA	1
GO:0051017	actin filament bundle assembly	biological process	ISS	1
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	biological process	TAS[8943350]	62
GO:0019899	enzyme binding	molecular function	IDA[15671026]	34

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 11)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
PAWR	PRKCZ	YES	in vitro;in vivo	8797824
PAWR	TFPT	NO	in vitro;in vivo;yeast 2-hybrid	16229834
PAWR	WT1	NO	in vitro;in vivo;yeast 2-hybrid	8943350
PAWR	THAP1	NO	yeast 2-hybrid	12717420
PAWR	PML	NO	in vitro;in vivo	12717420
PAWR	HSPA5	YES	in vitro;in vivo	19632185
PAWR	AATF	NO	in vivo	14627703
PAWR	RRAS2	NO	yeast 2-hybrid	16169070
PAWR	ATP5C1	NO	yeast 2-hybrid	16169070
PAWR	SLC5A7	NO	in vitro;in vivo	15090548
PAWR	DAPK3	NO	in vitro;in vivo	12917339 , 10602480

Related other genetic factors

Gene related SNPs (count: 51)

Literature-origin SNPs (count: 5)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs2463169	chr12:79685268 - 79685268(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant	1(0/1/0)
rs2400546	chr12:79670586 - 79670586(1)	intron_variant; non_coding_transcript_variant	1(0/1/0)
rs4842318	chr12:79650387 - 79650387(1)	intron_variant; non_coding_transcript_variant	1(0/1/0)
rs7305141	chr12:79621793 - 79621793(1)	intron_variant; non_coding_transcript_variant	1(0/1/0)
rs17005769	chr12:79661347 - 79661347(1)	intron_variant; non_coding_transcript_variant	1(0/1/0)

LD-proxies (count: 46)

rs_ID	Location	Functional Annotation
rs2307220	chr12:79592094 - 79592094(1)	3_prime_UTR_variant; downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs3789994	chr12:79592875 - 79592875(1)	intron_variant; non_coding_transcript_variant
rs7971769	chr12:79570412 - 79570412(1)	downstream_gene_variant
rs7968442	chr12:79631291 - 79631291(1)	intron_variant; non_coding_transcript_variant
rs8176857	chr12:79623496 - 79623496(1)	intron_variant; non_coding_transcript_variant
rs7294911	chr12:79629330 - 79629330(1)	intron_variant; non_coding_transcript_variant
rs10778683	chr12:79630240 - 79630240(1)	intron_variant; non_coding_transcript_variant
rs9651966	chr12:79634958 - 79634958(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs10778681	chr12:79617884 - 79617884(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs8176875	chr12:79620408 - 79620408(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs7305134	chr12:79621779 - 79621779(1)	intron_variant; non_coding_transcript_variant
rs7306065	chr12:79621813 - 79621813(1)	intron_variant; non_coding_transcript_variant
rs7953683	chr12:79599924 - 79599924(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs6539469	chr12:79603314 - 79603314(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs7979987	chr12:79604857 - 79604857(1)	intron_variant; non_coding_transcript_variant
rs7955388	chr12:79612913 - 79612913(1)	intron_variant; non_coding_transcript_variant
rs11503488	chr12:79575731 - 79575731(1)	intron_variant; non_coding_transcript_variant
rs11114185	chr12:79576559 - 79576559(1)	intron_variant; non_coding_transcript_variant
rs8176914	chr12:79590919 - 79590919(1)	3_prime_UTR_variant; downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs1553526	chr12:79584560 - 79584560(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs4842316	chr12:79580785 - 79580785(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs12827748	chr12:79694798 - 79694798(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs2808356	chr12:79666818 - 79666818(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs1880884	chr12:79662191 - 79662191(1)	intron_variant; non_coding_transcript_variant
rs1880883	chr12:79661986 - 79661986(1)	intron_variant; non_coding_transcript_variant
rs7134813	chr12:79661452 - 79661452(1)	intron_variant; non_coding_transcript_variant
rs10778686	chr12:79678175 - 79678175(1)	intron_variant; non_coding_transcript_variant
rs10778685	chr12:79672400 - 79672400(1)	intron_variant; non_coding_transcript_variant
rs2177973	chr12:79670877 - 79670877(1)	intron_variant; non_coding_transcript_variant
rs7300145	chr12:79668376 - 79668376(1)	intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant
rs11114201	chr12:79645399 - 79645399(1)	intron_variant; non_coding_transcript_variant
rs2463168	chr12:79643021 - 79643021(1)	intron_variant; non_coding_transcript_variant
rs4441080	chr12:79636927 - 79636927(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs2049589	chr12:79635736 - 79635736(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs10862007	chr12:79656185 - 79656185(1)	intron_variant; non_coding_transcript_variant
rs3842842	chr12:79655109 - 79655109(1)	intron_variant; non_coding_transcript_variant
rs2491341	chr12:79651713 - 79651713(1)	intron_variant; non_coding_transcript_variant
rs2049590	chr12:79649380 - 79649380(1)	intron_variant; non_coding_transcript_variant
rs11114178	chr12:79570394 - 79570394(1)	downstream_gene_variant
rs11114183	chr12:79573943 - 79573943(1)	downstream_gene_variant
rs2430866	chr12:79686838 - 79686838(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs8176805	chr12:79690012 - 79690012(1)	downstream_gene_variant; missense_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant
rs7307647	chr12:79682638 - 79682638(1)	intron_variant; non_coding_transcript_variant
rs2463108	chr12:79684644 - 79684644(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs2694831	chr12:79693000 - 79693000(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs6539471	chr12:79695615 - 79695615(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 3)

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)
12q21	chr12:71100000-92200000	2 (0/2/0)

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

Gene relationship with SZ

Overlap with SZ from cross-disorder studies (count: 0)

Overlap with SZ from candidate gene intersection analysis (count: 2)

Reference	ID in SZGene	Result Category
18281137	656	Positive
18085546	656	Negative

Gene relationship with MDD

Overlap with MDD from cross-disorder studies (count: 1)

Reference	Description	Category in MDD
18085546	Our results suggest that the PAWR does not play a major role in mood disorders in the Japanese population.	Negative

Overlap with MDD from candidate gene intersection analysis (count: 2)

Reference	Description	Category in MDD	Link in MK4MDD
20735158	Rs7305141-rs2307223-rs8176874 were significantly associated with MDD after correction for multiple testing (corrected P < 0.05).	Pos	PAWR

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Region: chr12:79574979..79691097 View in gBrowse