BHLHE41

"Basic helix-loop-helix family, member e41", or BHLHE41, is a gene that encodes a basic helix-loop-helix transcription factor repressor protein in various tissues of both humans and mice.[5][6][7][8] It is also known as DEC2, hDEC2, and SHARP1, and was previously known as "basic helix-loop-helix domain containing, class B, 3", or BHLHB3.[9] BHLHE41 is known for its role in the circadian molecular mechanisms that influence sleep quantity as well as its role in immune function and the maturation of T helper type 2 cell lineages associated with humoral immunity.[10][11]

Quick facts: BHLHE41, Identifiers, Aliases, External IDs, ... ▼

BHLHE41
Identifiers
Aliases	BHLHE41, DEC2, SHARP1, BHLHe41, HDEC2, SHARP-1, BHLHB3, Basic Helix-Loop-Helix Family Member E41, Basic Helix-Loop-Helix Family, Member E41, Class E Basic Helix-Loop-Helix Protein 41, Class B Basic Helix-Loop-Helix Protein 3, Basic Helix-Loop-Helix Domain Containing, Class B, 3, Differentially Expressed In Chondrocytes 2, Differentially Expressed In Chondrocytes Protein 2, Enhancer-Of-Split And Hairy-Related Protein 1, FNSS1
External IDs	OMIM: 606200 MGI: 1930704 HomoloGene: 137401 GeneCards: BHLHE41
Gene location (Human) Chr. Chromosome 12 (human)[1] Band 12p12.1 Start 26,120,030 bp[1] End 26,125,037 bp[1]
Gene location (Mouse) Chr. Chromosome 6 (mouse)[2] Band 6 G3|6 77.7 cM Start 145,803,969 bp[2] End 145,811,284 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right uterine tube inferior ganglion of vagus nerve Achilles tendon optic nerve subthalamic nucleus spinal cord corpus callosum external globus pallidus superior vestibular nucleus caput epididymis Top expressed in superior frontal gyrus cerebellar cortex skeletal muscle tissue interventricular septum lip Jacobson's organ vastus lateralis muscle thyroid gland triceps brachii muscle sternocleidomastoid muscle More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA binding protein dimerization activity protein homodimerization activity MRF binding transcription corepressor activity histone deacetylase binding RNA polymerase II cis-regulatory region sequence-specific DNA binding DNA-binding transcription repressor activity, RNA polymerase II-specific bHLH transcription factor binding E-box binding protein binding protein heterodimerization activity transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding DNA-binding transcription factor activity, RNA polymerase II-specific RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor binding sequence-specific DNA binding sequence-specific double-stranded DNA binding Cellular component nucleus Biological process cell differentiation regulation of transcription, DNA-templated rhythmic process negative regulation of transcription by competitive promoter binding negative regulation of transcription by RNA polymerase II circadian regulation of gene expression transcription, DNA-templated negative regulation of myotube differentiation animal organ morphogenesis cell population proliferation negative regulation of transcription, DNA-templated circadian rhythm somitogenesis Notch signaling pathway regulation of neurogenesis anterior/posterior pattern specification Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 79365 79362 Ensembl ENSG00000123095 ENSMUSG00000030256 UniProt Q9C0J9 Q99PV5 RefSeq (mRNA) NM_030762 NM_001271768 NM_024469 RefSeq (protein) NP_110389 NP_001258697 NP_077789 Location (UCSC) Chr 12: 26.12 – 26.13 Mb Chr 6: 145.8 – 145.81 Mb PubMed search [3] [4]
Wikidata
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