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	PAX8
Approved Name	paired box 8
Previous Name	paired box gene 8
Location	2q13
Position	chr2:113215997-113278950, -1
External Links	HGNC: 8622 Entrez Gene: 7849 Ensembl: ENSG00000125618 UCSC: uc010yxt.2
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
Gonzalez, S., 2014	SNP: rs895415	It showed nominal evidence for association with BD.	Trend	Comment on Study

Gene functional annotation

Gene related GO terms (count: 41)

GO terms by PBA (count: 4)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0007417	central nervous system development	biological process	IEP[15494458]	21
GO:0003677	DNA binding	molecular function	IDA[15961562]; IMP[9590296]	83
GO:0005634	nucleus	cellular component	IDA[15961562]	283
GO:0003700	sequence-specific DNA binding transcription factor activity	molecular function	IDA[9388203]	66

GO terms by database search (count: 37)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0001822	kidney development	biological process	IEP[15494458]	13
GO:0071599	otic vesicle development	biological process	IEP[15494458]	1
GO:0042472	inner ear morphogenesis	biological process	ISS	8
GO:0001655	urogenital system development	biological process	ISS	1
GO:0072207	metanephric epithelium development	biological process	IEP[7856737]	1
GO:0004996	thyroid-stimulating hormone receptor activity	molecular function	TAS[9590296]	2
GO:2000612	regulation of thyroid-stimulating hormone secretion	biological process	IMP[15356023]	1
GO:0072108	positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis	biological process	ISS	2
GO:0000979	RNA polymerase II core promoter sequence-specific DNA binding	molecular function	IDA[9388203]	9
GO:0072278	metanephric comma-shaped body morphogenesis	biological process	IEP[1337742]	1
GO:0072307	regulation of metanephric nephron tubule epithelial cell differentiation	biological process	ISS	1
GO:1900218	negative regulation of apoptotic process involved in metanephric nephron tubule development	biological process	ISS	1
GO:0071371	cellular response to gonadotropin stimulus	biological process	IDA[15961562]	5
GO:0042981	regulation of apoptotic process	biological process	ISS	10
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	biological process	IDA[9388203]	91
GO:2000611	positive regulation of thyroid hormone generation	biological process	IMP[15356023]	1
GO:0072305	negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis	biological process	ISS	1
GO:0003337	mesenchymal to epithelial transition involved in metanephros morphogenesis	biological process	IEP[8861958]	2
GO:0001823	mesonephros development	biological process	ISS	1
GO:0044212	transcription regulatory region DNA binding	molecular function	IDA[15356023]	17
GO:0038194	thyroid-stimulating hormone signaling pathway	biological process	TAS[9590296]	2
GO:0048793	pronephros development	biological process	ISS	1
GO:1900215	negative regulation of apoptotic process involved in metanephric collecting duct development	biological process	ISS	1
GO:0072289	metanephric nephron tubule formation	biological process	ISS	1
GO:0072284	metanephric S-shaped body morphogenesis	biological process	IEP[1337742]	1
GO:0005515	protein binding	molecular function	IPI[19010321]	563
GO:0072221	metanephric distal convoluted tubule development	biological process	ISS	2
GO:0009653	anatomical structure morphogenesis	biological process	TAS[9590296]	6
GO:0030878	thyroid gland development	biological process	IEP[1337742]; IMP[9590296]	3
GO:2000594	positive regulation of metanephric DCT cell differentiation	biological process	ISS	1
GO:0001658	branching involved in ureteric bud morphogenesis	biological process	IEP[1337742]	6
GO:1900212	negative regulation of mesenchymal cell apoptotic process involved in metanephros development	biological process	ISS	1
GO:0090190	positive regulation of branching involved in ureteric bud morphogenesis	biological process	ISS	3
GO:0039003	pronephric field specification	biological process	ISS	1
GO:0005654	nucleoplasm	cellular component	IDA; ISS	163
GO:0045893	positive regulation of transcription, DNA-templated	biological process	IDA[15356023]; ISS	58
GO:0006351	transcription, DNA-templated	biological process	IDA[8413205]	103

Gene related KEGG pathways (count: 1)

KEGG pathways by PBA (count: 0)

KEGG pathways by database search (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa05216	Thyroid cancer	4

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 5)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
PAX8	SMAD3	NO	in vitro;in vivo	14623893
PAX8	NKX2-1	NO	in vitro;in vivo	12441357 , 14970209
PAX8	EP300	NO	in vitro	10924503
PAX8	ID2	NO	in vitro	11134340
PAX8	WBP2	NO	in vitro;in vivo	14531730

Related other genetic factors

Gene related SNPs (count: 1)

Literature-origin SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs895415	chr2:113265640 - 113265640(1)	downstream_gene_variant; intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant	1(0/0/1)

LD-proxies (count: 0)

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)
2q12.3-q22.1	chr2:106700000-141500000	1 (0/1/0)
Chr 2	chr2:0-242193529	3 (0/3/0)
2p11-q14	chr2:83100000-129100000	1 (0/0/1)

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

Gene relationship with SZ

Gene relationship with MDD

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Region: chr2:113215997..113278950 View in gBrowse