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

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

View in gBrowse

Region: chr3:194136145..194138732 View in gBrowse