| Gene Symbol | BHLHE40 |
|---|---|
| Entrez Gene | 8553 |
| Alt Symbol | BHLHB2, DEC1, HLHB2, SHARP-2, STRA13, Stra14 |
| Species | Human |
| Gene Type | protein-coding |
| Description | basic helix-loop-helix family, member e40 |
| Other Description | basic helix-loop-helix domain containing, class B, 2|class B basic helix-loop-helix protein 2|class E basic helix-loop-helix protein 40|differentially expressed in chondrocytes 1|differentially expressed in chondrocytes protein 1|differentiated embryo chondrocyte expressed gene 1|enhancer-of-split and hairy-related protein 2|stimulated by retinoic acid gene 13 protein |
| Swissprots | O14503 Q96TD3 |
| Accessions | ABM64206 BAB18565 CBX47607 EAW63916 EAW63917 O14503 AA632164 AB004066 BAA21720 AK293205 BAG56745 AK309173 AK312509 BAG35410 BC068292 BC082238 AAH82238 BI962730 CR456921 CAG33202 DB144350 EU446668 ABZ92197 NM_003670 NP_003661 |
| Function | 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. {ECO:0000269|Pub |
| Subcellular Location | Cytoplasm. Nucleus. Nucleus, nucleolus. Note=Predominantly localized in the nucleus. |
| Tissue Specificity | Expressed in cartilage, spleen, intestine, lung, and to a lesser extent in heart, brain, liver, muscle and stomach. |
| Top Pathways | Circadian rhythm |