BHLHE40 (basic helix-loop-helix family member e40)

2009-01-01  

Identity

HGNC
LOCATION
3p26.1
LOCUSID
ALIAS
BHLHB2,Clast5,DEC1,HLHB2,SHARP-2,SHARP2,STRA13,Stra14
FUSION GENES

Other Information

Locus ID:

NCBI: 8553
MIM: 604256
HGNC: 1046
Ensembl: ENSG00000134107

Variants:

dbSNP: 8553
ClinVar: 8553
TCGA: ENSG00000134107
COSMIC: BHLHE40

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000134107ENST00000256495O14503
ENSG00000134107ENST00000256495Q6IB83

Expression (GTEx)

0
100
200
300
400
500
600

Pathways

PathwaySourceExternal ID
Circadian rhythmKEGGko04710
Circadian rhythmKEGGhsa04710
Circadian ClockREACTOMER-HSA-400253
BMAL1:CLOCK,NPAS2 activates circadian gene expressionREACTOMER-HSA-1368108

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
123973592002Dec1 and Dec2 are regulators of the mammalian molecular clock.184
200721162010Differential association of circadian genes with mood disorders: CRY1 and NPAS2 are associated with unipolar major depression and CLOCK and VIP with bipolar disorder.91
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
123547712002Identification of functional hypoxia response elements in the promoter region of the DEC1 and DEC2 genes.61
182285282008Clock genes may influence bipolar disorder susceptibility and dysfunctional circadian rhythm.60
182285282008Clock genes may influence bipolar disorder susceptibility and dysfunctional circadian rhythm.60
184112972008DEC1 modulates the circadian phase of clock gene expression.51
180250812008DEC1, a basic helix-loop-helix transcription factor and a novel target gene of the p53 family, mediates p53-dependent premature senescence.49
164627712006The expression of antiapoptotic protein survivin is transcriptionally upregulated by DEC1 primarily through multiple sp1 binding sites in the proximal promoter.40
126241102003DEC1 negatively regulates the expression of DEC2 through binding to the E-box in the proximal promoter.37

Citation

Dessen P

BHLHE40 (basic helix-loop-helix family member e40)

Atlas Genet Cytogenet Oncol Haematol. 2009-01-01

Online version: http://atlasgeneticsoncology.org/gene/50621/bhlhe40