Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

ADD to My Gene Set

Comment on Gene

View All Comments on Gene

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	ID2	NO	in vitro	11134340
PAX8	EP300	NO	in vitro	10924503
PAX8	NKX2-1	NO	in vitro;in vivo	12441357 , 14970209
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

View in gBrowse

Region: chr2:113215997..113278950 View in gBrowse