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	HES1
Previous Symbol	HRY
Symbol Alias	FLJ20408, HES-1, Hes1, bHLHb39
Approved Name	hes family bHLH transcription factor 1
Previous Name	hairy homolog (Drosophila), "hairy and enhancer of split 1, (Drosophila)"
Location	3q28-q29
Position	chr3:194136145-194138732, 1
External Links	HGNC: 5192 Entrez Gene: 3280 Ensembl: ENSG00000114315 UCSC: uc003ftq.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
Schosser, A.,2011	SNP: rs2368041, rs2368048	No significant association was observed.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 81)

GO terms by PBA (count: 6)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0003700	sequence-specific DNA binding transcription factor activity	molecular function	IDA[17681138]	66
GO:0043565	sequence-specific DNA binding	molecular function	ISS	29
GO:0007399	nervous system development	biological process	TAS[8020957]	40
GO:0005634	nucleus	cellular component	ISS	283
GO:0003677	DNA binding	molecular function	TAS[7906273]	83
GO:0007155	cell adhesion	biological process	IEA	42

GO terms by database search (count: 75)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0006366	transcription from RNA polymerase II promoter	biological process	IEA	31
GO:0003266	regulation of secondary heart field cardioblast proliferation	biological process	ISS	1
GO:0035019	somatic stem cell maintenance	biological process	IEA	6
GO:0071820	N-box binding	molecular function	ISS	1
GO:1903955	positive regulation of protein targeting to mitochondrion	biological process	IMP[24270810]	7
GO:0030513	positive regulation of BMP signaling pathway	biological process	IEA	1
GO:0048844	artery morphogenesis	biological process	ISS	6
GO:0021861	forebrain radial glial cell differentiation	biological process	ISS	2
GO:0048711	positive regulation of astrocyte differentiation	biological process	ISS	1
GO:0045608	negative regulation of auditory receptor cell differentiation	biological process	IEA	1
GO:0003281	ventricular septum development	biological process	ISS	3
GO:0030324	lung development	biological process	IEA	9
GO:0061626	pharyngeal arch artery morphogenesis	biological process	ISS	1
GO:0030901	midbrain development	biological process	IEA	6
GO:2000978	negative regulation of forebrain neuron differentiation	biological process	ISS	1
GO:0003143	embryonic heart tube morphogenesis	biological process	ISS	2
GO:2000974	negative regulation of pro-B cell differentiation	biological process	IMP[12032823]	1
GO:0003151	outflow tract morphogenesis	biological process	ISS	4
GO:0048469	cell maturation	biological process	IEA	1
GO:0045892	negative regulation of transcription, DNA-templated	biological process	IDA[12535671]	43
GO:0021984	adenohypophysis development	biological process	IEA	3
GO:0005515	protein binding	molecular function	IPI[12535671]	563
GO:0007219	Notch signaling pathway	biological process	IDA[16160079]; IMP[19682396]; TAS	14
GO:0060412	ventricular septum morphogenesis	biological process	ISS	3
GO:0097150	neuronal stem cell maintenance	biological process	IEP[19682396]	2
GO:0042668	auditory receptor cell fate determination	biological process	IEA	1
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	biological process	IDA[12032823]	62
GO:0061106	negative regulation of stomach neuroendocrine cell differentiation	biological process	IEA	1
GO:0072282	metanephric nephron tubule morphogenesis	biological process	IEA	1
GO:0046331	lateral inhibition	biological process	IEA	1
GO:0007224	smoothened signaling pathway	biological process	IEA	5
GO:0005737	cytoplasm	cellular component	IEA	322
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	biological process	ISS	91
GO:2000737	negative regulation of stem cell differentiation	biological process	IMP[19682396]	1
GO:0097084	vascular smooth muscle cell development	biological process	ISS	2
GO:0045598	regulation of fat cell differentiation	biological process	IEA	4
GO:0021557	oculomotor nerve development	biological process	IEA	1
GO:0061009	common bile duct development	biological process	IEA	1
GO:0001889	liver development	biological process	IEA	14
GO:0007262	STAT protein import into nucleus	biological process	ISS	1
GO:0035910	ascending aorta morphogenesis	biological process	ISS	1
GO:0021558	trochlear nerve development	biological process	IEA	1
GO:0048667	cell morphogenesis involved in neuron differentiation	biological process	IEA	2
GO:0060675	ureteric bud morphogenesis	biological process	IEA	1
GO:0072012	glomerulus vasculature development	biological process	IEA	1
GO:0021575	hindbrain morphogenesis	biological process	IEA	2
GO:0072049	comma-shaped body morphogenesis	biological process	IEA	1
GO:0045747	positive regulation of Notch signaling pathway	biological process	IEA	1
GO:0072141	renal interstitial fibroblast development	biological process	IEA	1
GO:0021537	telencephalon development	biological process	IEA	5
GO:0016477	cell migration	biological process	IEA	17
GO:0046427	positive regulation of JAK-STAT cascade	biological process	ISS	3
GO:2000227	negative regulation of pancreatic A cell differentiation	biological process	IEA	1
GO:0001078	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription	molecular function	ISS	14
GO:0042102	positive regulation of T cell proliferation	biological process	IEA	6
GO:0051087	chaperone binding	molecular function	IEA	10
GO:0006461	protein complex assembly	biological process	ISS	11
GO:0060253	negative regulation of glial cell proliferation	biological process	ISS	3
GO:0048715	negative regulation of oligodendrocyte differentiation	biological process	ISS	3
GO:0005654	nucleoplasm	cellular component	IDA; TAS	163
GO:0042826	histone deacetylase binding	molecular function	IPI[12535671]	13
GO:0060716	labyrinthine layer blood vessel development	biological process	IEA	2
GO:0043388	positive regulation of DNA binding	biological process	ISS	4
GO:0021555	midbrain-hindbrain boundary morphogenesis	biological process	IEA	1
GO:0048538	thymus development	biological process	ISS	5
GO:0090102	cochlea development	biological process	IEA	7
GO:0008134	transcription factor binding	molecular function	NAS[17611704]	28
GO:0042517	positive regulation of tyrosine phosphorylation of Stat3 protein	biological process	ISS	2
GO:0072050	S-shaped body morphogenesis	biological process	IEA	1
GO:0060164	regulation of timing of neuron differentiation	biological process	IEA	2
GO:0031018	endocrine pancreas development	biological process	TAS	6
GO:0045977	positive regulation of mitotic cell cycle, embryonic	biological process	ISS	1
GO:0061309	cardiac neural crest cell development involved in outflow tract morphogenesis	biological process	ISS	1
GO:0008284	positive regulation of cell proliferation	biological process	ISS	44
GO:0042803	protein homodimerization activity	molecular function	ISS	71

Gene related KEGG pathways (count: 2)

KEGG pathways by PBA (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04330	Notch signaling pathway	7

KEGG pathways by database search (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04950	Maturity onset diabetes of the young	3

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 19)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
HES1	ID3	NO	yeast 2-hybrid	11756408
HES1	FANCE	YES	in vivo;yeast 2-hybrid	18550849
HES1	ID1	YES	in vivo;yeast 2-hybrid	11756408
HES1	FOXG1	NO	in vitro;in vivo	11238932
HES1	HES6	YES	in vitro;in vivo	10851137
HES1	STAT3	NO	in vitro;in vivo	15156153
HES1	FANCF	NO	in vivo;yeast 2-hybrid	18550849
HES1	HMGB1	NO	in vitro	11748221
HES1	PRKCA	NO	in vitro	9389649
HES1	HEY2	NO	in vitro;in vivo	11486045
HES1	JAK2	NO	in vitro;in vivo	15156153
HES1	ID2	NO	in vivo;yeast 2-hybrid	11756408
HES1	FANCG	NO	in vivo;yeast 2-hybrid	18550849
HES1	FANCA	YES	in vivo;yeast 2-hybrid	18550849
HES1	ID4	NO	yeast 2-hybrid	11756408
HES1	TLE1	NO	in vitro;yeast 2-hybrid	8687460
HES1	FANCL	NO	in vivo;yeast 2-hybrid	18550849
HES1	UBQLN1	NO	yeast 2-hybrid	15492808
HES1	SIRT1	YES	in vivo	12535671

Related other genetic factors

Gene related SNPs (count: 3)

Literature-origin SNPs (count: 2)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs2368041	chr3:194082743 - 194082743(1)	downstream_gene_variant	1(0/1/0)
rs2368048	chr3:194137172 - 194137172(1)	intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant	1(0/1/0)

LD-proxies (count: 1)

rs_ID	Literature-origin SNPs with LD	Location	Functional Annotation
rs4686673		chr3:194143453 - 194143453(1)	downstream_gene_variant; upstream_gene_variant

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 3	chr3:0-198295559	2 (0/2/0)
3q29	chr3:192600000-198295559	2 (1/0/1)

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

Gene relationship with SZ

Gene relationship with MDD

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Region: chr3:194136145..194138732 View in gBrowse