DISEASES

Disease-gene associations mined from literature

Literature associating BHLHE40 and autosomal genetic disease

BHLHE40 [ENSP00000256495]

Class E basic helix-loop-helix protein 40; Transcriptional repressor involved in the regulation of the circadian rhythm by negatively regulating the activity of the clock genes and clock-controlled genes . Acts as the negative limb of a novel autoregulatory feedback loop (DEC loop) which differs from the one formed by the PER and CRY transcriptional repressors (PER/CRY loop) . Both these loops are interlocked as it represses the expression of PER1/2 and in turn is repressed by PER1/2 and CRY1/2 . Represses the activity of the circadian transcriptional activator: CLOCK- ARNTL/BMAL1|ARNTL2/BMAL2 heterodimer by competing for the binding to E- box elements (5'-CACGTG-3') found within the promoters of its target genes . Negatively regulates its own expression and the expression of DBP and BHLHE41/DEC2 . Acts as a corepressor of RXR and the RXR-LXR heterodimers and represses the ligand-induced RXRA and NR1H3/LXRA transactivation activity . May be involved in the regulation of chondrocyte differentiation via the cAMP pathway . Represses the transcription of NR0B2 and attentuates the transactivation of NR0B2 by the CLOCK-ARNTL/BMAL1 complex . Drives the circadian rhythm of blood pressure through transcriptional repression of ATP1B1 in the cardiovascular system . ECO:0000269|PubMed:15193144, ECO:0000269|PubMed:15560782, ECO:0000269|PubMed:18411297, ECO:0000269|PubMed:19786558,

Synonyms:  BHLHE40,  BHLHE40p,  hBHLHE40,  BHLHB2,  O14503 ...

Linkouts:  STRING  Pharos  UniProt  OMIM