BHLHE40 Gene Summary [Human]
This gene encodes a basic helix-loop-helix protein expressed in various tissues. The encoded protein can interact with ARNTL or compete for E-box binding sites in the promoter of PER1 and repress CLOCK/ARNTL's transactivation of PER1. This gene is believed to be involved in the control of circadian rhythm and cell differentiation. [provided by RefSeq, Feb 2014]
Details
| Type | Retained Intron |
| Official Symbol | BHLHE40 |
| Official Name | basic helix-loop-helix family member e40 [Source:HGNC Symbol;Acc:HGNC:1046] |
| Ensembl ID | ENSG00000134107 |
| Bio databases IDs | |
| Aliases | basic helix-loop-helix family member e40, differentially expressed in chondrocytes 1, differentiated embryo chondrocyte expressed gene 1 |
| Synonyms | Basic helix loop helix, Basic helix-loop-helix domain containing, class b2, basic helix-loop-helix family member e40, basic helix-loop-helix family, member e40, BHLHB2, C130042M06Rik, Clast5, CR8, DEC1, HLHB2, SHARP-2, STRA13, Stra14 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human BHLHE40 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- transcription regulator
- nucleic acid binding
- helix 3-helix 4 domain
- basic Helix Loop Helix (bHLH) domain superfamily
- transcription factor binding
- protein domain specific binding
- protein binding
- sequence-specific DNA binding
- DNA binding
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional repressor activity
- double-stranded DNA binding
- helix loop helix domain
- protein homodimerization
- Hairy Orange
- helix-loop-helix domain
- Helix-loop-helix DNA-binding domain
- protein heterodimerization
Pathways
Biological processes and signaling networks where the BHLHE40 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- prostate cancer
- gout
- atopic dermatitis
- collagen-induced arthritis
- Huntington disease
- nonalcoholic fatty liver disease
- hyperplasia
- keratocystic odontogenic tumor
- keratocystic odontogenic tumors
- experimental autoimmune encephalomyelitis
role in cell
- production in
- quantity
- expression in
- apoptosis
- number
- activation in
- phosphorylation in
- activation
- binding in
- migration
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nucleoplasm
- nuclear bodies
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human BHLHE40 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of transcription from RNA polymerase II promoter
- circadian regulation of gene expression
- negative regulation of transcription, DNA-dependent
- entrainment of circadian clock by photoperiod
- anterior/posterior pattern specification
- regulation of transcription, DNA-dependent
- negative regulation of sequence-specific DNA binding transcription factor activity
- circadian rhythm
- regulation of circadian rhythm
- regulation of neurogenesis
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- nucleus
- nuclear body
- cytoplasm
- chromatin
Molecular Function
What the gene product does at the molecular level
- protein domain specific binding
- sequence-specific DNA binding transcription factor activity
- protein homodimerization activity
- protein binding
- protein heterodimerization activity
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription
- MRF binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity
- bHLH transcription factor binding
- E-box binding