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	BHLHE41
Previous Symbol	BHLHB3
Symbol Alias	DEC2, SHARP-1, SHARP1, bHLHe41
Approved Name	basic helix-loop-helix family, member e41
Previous Name	basic helix-loop-helix domain containing, class B, 3
Name Alias	differentially expressed in chondrocytes 2, "Enhancer-of-split and hairy-related protein 1"
Location	12p12.1
Position	chr12:26120026-26125127, -1
External Links	HGNC: 16617 Entrez Gene: 79365 Ensembl: ENSG00000123095 UCSC: uc001rhb.3
No. of Studies	3 (Positive: 2; Negative: 1; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	YES

Gene related studies (count: 3)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Byrne, E. M., 2014		P-value=0.03. The evidence for a role for common risk variants in circadian genes is slightly stronger for BPD, with two genesâ€”BHLHB3 and DBP1â€”showing nominal significance for the gene-based test and nine genes harboring a SNP with a P-value <0.01.	Positive	Comment on Study
Soria, V.,2010	SNP: rs4963954	Significant associations of BHLHE41 gene were found in BPD patients.	Positive	Comment on Study
Mansour, H. A.,2009		Gene-based tests:X<sup>2</sup>=0.786, P-value = 0.708 in additive model, X<sup>2</sup>=0.86, P-value = 0.717 in dominant model, X<sup>2</sup>=0.471, P-value = 0.868 in recessive model in BPI. No significant association was observed using neither single SNP-based analyses nor gene-based tests in BPI.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 24)

GO terms by PBA (count: 3)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0003714	transcription corepressor activity	molecular function	IDA[19786558]	21
GO:0005634	nucleus	cellular component	IEA	283
GO:0030154	cell differentiation	biological process	NAS[11162494]	31

GO terms by database search (count: 21)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0010832	negative regulation of myotube differentiation	biological process	ISS	2
GO:0000978	RNA polymerase II core promoter proximal region sequence-specific DNA binding	molecular function	ISS	23
GO:0008283	cell proliferation	biological process	NAS[11162494]	37
GO:0043426	MRF binding	molecular function	ISS	2
GO:0001191	RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription	molecular function	ISS	3
GO:0043425	bHLH transcription factor binding	molecular function	IPI[15193144]; ISS	3
GO:0046982	protein heterodimerization activity	molecular function	IPI[15193144]; ISS	42
GO:0032922	circadian regulation of gene expression	biological process	IEA	22
GO:0070888	E-box binding	molecular function	IDA[14672706]; ISS	7
GO:0045892	negative regulation of transcription, DNA-templated	biological process	ISS	43
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	biological process	IDA[14672706]	62
GO:0007623	circadian rhythm	biological process	TAS	40
GO:0009887	organ morphogenesis	biological process	NAS[11162494]	9
GO:0003705	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity	molecular function	ISS	7
GO:0010944	negative regulation of transcription by competitive promoter binding	biological process	ISS	2
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:0001102	RNA polymerase II activating transcription factor binding	molecular function	ISS	5
GO:0005515	protein binding	molecular function	IPI[19786558]	563
GO:0042803	protein homodimerization activity	molecular function	ISS	71
GO:0006366	transcription from RNA polymerase II promoter	biological process	IEA	31
GO:0042826	histone deacetylase binding	molecular function	ISS	13

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 2)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
BHLHE41	BHLHE40	NO	in vivo	15193144
BHLHE41	MYOD1	NO	in vitro	12657651

Related other genetic factors

Gene related SNPs (count: 2)

Literature-origin SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs4963954	chr12:26113698 - 26113698(1)		1(1/0/0)

LD-proxies (count: 1)

rs_ID	Literature-origin SNPs with LD	Location	Functional Annotation
rs10842678		chr12:26119891 - 26119891(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 12	chr12:0-133275309	3 (0/3/0)
12p12	chr12:14600000-26300000	1 (0/0/1)

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

Gene relationship with SZ

Overlap with SZ from cross-disorder studies (count: 2)

Reference	Description	Result Category
24687905	P-value=0.60. Gene-based tests show no significant association between this gene and SZ.	Negative
19839995	Gene-based tests:X<sup>2</sup>=0.6, P-value = 0.829 in recessive model in SZ/SZA, X<sup>2</sup>=0.282, P-value = 0.94 in dominant model in SZ/SZA, X<sup>2</sup>=0.1, P-value = 0.985 in additive model in SZ/SZA.No association was observed using neither single SNP-based analyses nor gene-based tests in SZ/SZA.	Negative

Overlap with SZ from candidate gene intersection analysis (count: 1)

Reference	ID in SZGene	Result Category
19839995	877	Negative

Gene relationship with MDD

Overlap with MDD from cross-disorder studies (count: 2)

Reference	Description	Category in MDD
20072116	No significant associations of BHLHE41 gene were found in MDD patients.	Negative
24687905	P-value=0.74. Gene-based tests show no significant association between this gene and MDD.	Negative

Overlap with MDD from candidate gene intersection analysis (count: 0)

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Region: chr12:26120026..26125127 View in gBrowse