BHLHE41

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Basic helix-loop-helix family, member e41
Identifiers
Symbols BHLHE41 ; BHLHB3; DEC2; SHARP1; hDEC2
External IDs OMIM606200 MGI1930704 HomoloGene11549 GeneCards: BHLHE41 Gene
RNA expression pattern
PBB GE BHLHB3 221530 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 79365 79362
Ensembl ENSG00000123095 ENSMUSG00000030256
UniProt Q9C0J9 Q99PV5
RefSeq (mRNA) NM_030762 NM_001271768
RefSeq (protein) NP_110389 NP_001258697
Location (UCSC) Chr 12:
26.27 – 26.28 Mb
Chr 6:
145.86 – 145.87 Mb
PubMed search [1] [2]

"Basic helix-loop-helix family, member e41", or BHLHE41, is a gene that encodes, as the name implies, a basic helix-loop-helix protein in various tissues of both humans and mice.[1] [2][3][4][5] It also known as DEC2, hDEC2, and SHARP1, and was previously known as "basic helix-loop-helix domain containing, class B, 3", or BHLHB3.[6]

Function[edit]

This gene encodes a transcription factor that belongs to the Hairy/Enhancer of Split subfamily of basic helix-loop-helix factors. The encoded protein functions as a transcriptional repressor and as a regulator of molecular clock.[5]

Clinical significance[edit]

Defects in this gene are associated with the short sleep phenotype.[5] A particular genetic variation in the gene affects sleep duration in humans, and introduction of the human gene into mice also reduces their sleep requirements.[7]

References[edit]

  1. ^ "BHLHE41 basic helix-loop-helix family, member e41 [ Homo sapiens (human) ]". National Center for Biotechnology Information. Retrieved 2014-05-27. 
  2. ^ "Bhlhe41 basic helix-loop-helix family, member e41 [ Mus musculus (house mouse) ]". NCBI. Retrieved 2014-05-27. 
  3. ^ Fujimoto K, Shen M, Noshiro M, Matsubara K, Shingu S, Honda K, Yoshida E, Suardita K, Matsuda Y, Kato Y (February 2001). "Molecular cloning and characterization of DEC2, a new member of basic helix-loop-helix proteins". Biochem Biophys Res Commun 280 (1): 164–71. doi:10.1006/bbrc.2000.4133. PMID 11162494. 
  4. ^ Stevens JD, Roalson EH, Skinner MK (December 2008). "Phylogenetic and expression analysis of the basic helix-loop-helix transcription factor gene family: genomic approach to cellular differentiation". Differentiation 76 (9): 1006–22. doi:10.1111/j.1432-0436.2008.00285.x. PMID 18557763. 
  5. ^ a b c "Entrez Gene: BHLHB3 basic helix-loop-helix domain containing, class B, 3". 
  6. ^ "Basic Helix-Loop-Helix Family, Member E41". Weizmann Institute of Science. Retrieved 2014-05-27. 
  7. ^ He Y, Jones CR, Fujiki N, Xu Y, Guo B, Holder JL, Rossner MJ, Nishino S, Fu YH (August 2009). "The transcriptional repressor DEC2 regulates sleep length in mammals". Science 325 (5942): 866–70. doi:10.1126/science.1174443. PMC 2884988. PMID 19679812. 

Further reading[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.