BHLHB2

Protein-coding gene in the species Homo sapiens
BHLHE40
Identifiers
AliasesBHLHE40, BHLHB2, DEC1, HLHB2, SHARP-2, STRA13, Stra14, basic helix-loop-helix family member e40, Clast5, SHARP2
External IDsOMIM: 604256 MGI: 1097714 HomoloGene: 2722 GeneCards: BHLHE40
Gene location (Human)
Chromosome 3 (human)
Chr.Chromosome 3 (human)[1]
Chromosome 3 (human)
Genomic location for BHLHE40
Genomic location for BHLHE40
Band3p26.1Start4,979,437 bp[1]
End4,985,323 bp[1]
Gene location (Mouse)
Chromosome 6 (mouse)
Chr.Chromosome 6 (mouse)[2]
Chromosome 6 (mouse)
Genomic location for BHLHE40
Genomic location for BHLHE40
Band6|6 E2Start108,637,590 bp[2]
End108,643,886 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • saphenous vein

  • vena cava

  • synovial joint

  • pericardium

  • gastric mucosa

  • human penis

  • gallbladder

  • lactiferous duct

  • trachea

  • mucosa of urinary bladder
Top expressed in
  • ankle

  • plantaris muscle

  • extensor digitorum longus muscle

  • cervix

  • iris

  • left lobe of liver

  • tibialis anterior muscle

  • ciliary body

  • triceps brachii muscle

  • quadriceps femoris 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
  • protein domain specific binding
  • DNA-binding transcription factor activity
  • 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
  • RNA polymerase II cis-regulatory region sequence-specific DNA binding
  • transcription factor binding
  • sequence-specific DNA binding
  • sequence-specific double-stranded DNA binding
Cellular component
  • cytoplasm
  • nucleus
  • nuclear body
Biological process
  • regulation of transcription, DNA-templated
  • response to light stimulus
  • rhythmic process
  • negative regulation of transcription by RNA polymerase II
  • circadian regulation of gene expression
  • transcription, DNA-templated
  • negative regulation of DNA-binding transcription factor activity
  • negative regulation of transcription, DNA-templated
  • entrainment of circadian clock by photoperiod
  • circadian rhythm
  • somitogenesis
  • Notch signaling pathway
  • cell differentiation
  • regulation of neurogenesis
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

8553

20893

Ensembl

ENSG00000134107

ENSMUSG00000030103

UniProt

O14503

O35185

RefSeq (mRNA)

NM_003670

NM_011498

RefSeq (protein)

NP_003661

NP_035628

Location (UCSC)Chr 3: 4.98 – 4.99 MbChr 6: 108.64 – 108.64 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Class E basic helix-loop-helix protein 40 is a protein that in humans is encoded by the BHLHE40 gene.[5][6][7][8]

Function

DEC1 encodes a basic helix-loop-helix protein expressed in various tissues. Expression in the chondrocytes is responsive to the addition of Bt2cAMP. Differentiated embryo chondrocyte expressed gene 1 is believed to be involved in the control of cell differentiation.[8]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000134107 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000030103 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Shen M, Kawamoto T, Yan W, Nakamasu K, Tamagami M, Koyano Y, Noshiro M, Kato Y (Jul 1997). "Molecular characterization of the novel basic helix-loop-helix protein DEC1 expressed in differentiated human embryo chondrocytes". Biochemical and Biophysical Research Communications. 236 (2): 294–8. doi:10.1006/bbrc.1997.6960. PMID 9240428.
  6. ^ Antonevich T, Taneja R (Oct 1999). "Assignment1 of the human Stra13 gene (STRA13) to chromosome 3p26 by in situ hybridization". Cytogenetics and Cell Genetics. 85 (3–4): 254–5. doi:10.1159/000015305. PMID 10449910. S2CID 25761427.
  7. ^ Stevens JD, Roalson EH, Skinner MK (Nov 2008). "Phylogenetic and expression analysis of the basic helix-loop-helix transcription factor gene family: genomic approach to cellular differentiation". Differentiation; Research in Biological Diversity. 76 (9): 1006–22. doi:10.1111/j.1432-0436.2008.00285.x. PMC 5728086. PMID 18557763.
  8. ^ a b "Entrez Gene: BHLHB2 basic helix-loop-helix domain containing, class B, 2".

Further reading

  • Teramoto M, Nakamasu K, Noshiro M, Matsuda Y, Gotoh O, Shen M, Tsutsumi S, Kawamoto T, Iwamoto Y, Kato Y (Mar 2001). "Gene structure and chromosomal location of a human bHLH transcriptional factor DEC1 x Stra13 x SHARP-2/BHLHB2". Journal of Biochemistry. 129 (3): 391–6. doi:10.1093/oxfordjournals.jbchem.a002869. PMID 11226878.
  • Ivanova AV, Ivanov SV, Danilkovitch-Miagkova A, Lerman MI (May 2001). "Regulation of STRA13 by the von Hippel-Lindau tumor suppressor protein, hypoxia, and the UBC9/ubiquitin proteasome degradation pathway". The Journal of Biological Chemistry. 276 (18): 15306–15. doi:10.1074/jbc.M010516200. PMID 11278694.
  • Sun H, Lu B, Li RQ, Flavell RA, Taneja R (Nov 2001). "Defective T cell activation and autoimmune disorder in Stra13-deficient mice". Nature Immunology. 2 (11): 1040–7. doi:10.1038/ni721. PMID 11668339. S2CID 26633291.
  • Yoon DY, Buchler P, Saarikoski ST, Hines OJ, Reber HA, Hankinson O (Nov 2001). "Identification of genes differentially induced by hypoxia in pancreatic cancer cells". Biochemical and Biophysical Research Communications. 288 (4): 882–6. doi:10.1006/bbrc.2001.5867. PMID 11688991.
  • Li Y, Zhang H, Xie M, Hu M, Ge S, Yang D, Wan Y, Yan B (Oct 2002). "Abundant expression of Dec1/stra13/sharp2 in colon carcinoma: its antagonizing role in serum deprivation-induced apoptosis and selective inhibition of procaspase activation". The Biochemical Journal. 367 (Pt 2): 413–22. doi:10.1042/BJ20020514. PMC 1222902. PMID 12119049.
  • St-Pierre B, Flock G, Zacksenhaus E, Egan SE (Nov 2002). "Stra13 homodimers repress transcription through class B E-box elements". The Journal of Biological Chemistry. 277 (48): 46544–51. doi:10.1074/jbc.M111652200. PMID 12297495.
  • Miyazaki K, Kawamoto T, Tanimoto K, Nishiyama M, Honda H, Kato Y (Dec 2002). "Identification of functional hypoxia response elements in the promoter region of the DEC1 and DEC2 genes". The Journal of Biological Chemistry. 277 (49): 47014–21. doi:10.1074/jbc.M204938200. PMID 12354771.
  • Shen M, Yoshida E, Yan W, Kawamoto T, Suardita K, Koyano Y, Fujimoto K, Noshiro M, Kato Y (Dec 2002). "Basic helix-loop-helix protein DEC1 promotes chondrocyte differentiation at the early and terminal stages". The Journal of Biological Chemistry. 277 (51): 50112–20. doi:10.1074/jbc.M206771200. PMID 12384505.
  • Honma S, Kawamoto T, Takagi Y, Fujimoto K, Sato F, Noshiro M, Kato Y, Honma K (Oct 2002). "Dec1 and Dec2 are regulators of the mammalian molecular clock". Nature. 419 (6909): 841–4. Bibcode:2002Natur.419..841H. doi:10.1038/nature01123. PMID 12397359. S2CID 4426418.
  • Li Y, Xie M, Song X, Gragen S, Sachdeva K, Wan Y, Yan B (May 2003). "DEC1 negatively regulates the expression of DEC2 through binding to the E-box in the proximal promoter". The Journal of Biological Chemistry. 278 (19): 16899–907. doi:10.1074/jbc.M300596200. PMID 12624110.
  • Giatromanolaki A, Koukourakis MI, Sivridis E, Turley H, Wykoff CC, Gatter KC, Harris AL (Jun 2003). "DEC1 (STRA13) protein expression relates to hypoxia- inducible factor 1-alpha and carbonic anhydrase-9 overexpression in non-small cell lung cancer". The Journal of Pathology. 200 (2): 222–8. doi:10.1002/path.1330. PMID 12754744. S2CID 26744393.
  • Ivanova AV, Ivanov SV, Zhang X, Ivanov VN, Timofeeva OA, Lerman MI (Jul 2004). "STRA13 interacts with STAT3 and modulates transcription of STAT3-dependent targets". Journal of Molecular Biology. 340 (4): 641–53. doi:10.1016/j.jmb.2004.05.025. PMID 15223310.
  • Sato F, Kawamoto T, Fujimoto K, Noshiro M, Honda KK, Honma S, Honma K, Kato Y (Nov 2004). "Functional analysis of the basic helix-loop-helix transcription factor DEC1 in circadian regulation. Interaction with BMAL1". European Journal of Biochemistry. 271 (22): 4409–19. doi:10.1111/j.1432-1033.2004.04379.x. PMID 15560782.
  • Ivanova AV, Ivanov SV, Lerman ML (Feb 2005). "Association, mutual stabilization, and transcriptional activity of the STRA13 and MSP58 proteins". Cellular and Molecular Life Sciences. 62 (4): 471–84. doi:10.1007/s00018-004-4423-2. PMID 15719173. S2CID 6528873.
  • Ivanova A, Liao SY, Lerman MI, Ivanov S, Stanbridge EJ (Jul 2005). "STRA13 expression and subcellular localisation in normal and tumour tissues: implications for use as a diagnostic and differentiation marker". Journal of Medical Genetics. 42 (7): 565–76. doi:10.1136/jmg.2004.029835. PMC 1736099. PMID 15994878.
  • Stelzl U, Worm U, Lalowski M, Haenig C, Brembeck FH, Goehler H, Stroedicke M, Zenkner M, Schoenherr A, Koeppen S, Timm J, Mintzlaff S, Abraham C, Bock N, Kietzmann S, Goedde A, Toksöz E, Droege A, Krobitsch S, Korn B, Birchmeier W, Lehrach H, Wanker EE (Sep 2005). "A human protein-protein interaction network: a resource for annotating the proteome". Cell. 122 (6): 957–68. doi:10.1016/j.cell.2005.08.029. hdl:11858/00-001M-0000-0010-8592-0. PMID 16169070. S2CID 8235923.

External links

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

  • v
  • t
  • e
(1) Basic domains
(1.1) Basic leucine zipper (bZIP)
(1.2) Basic helix-loop-helix (bHLH)
Group A
Group B
Group C
bHLH-PAS
Group D
Group E
Group F
bHLH-COE
(1.3) bHLH-ZIP
(1.4) NF-1
(1.5) RF-X
(1.6) Basic helix-span-helix (bHSH)
(2) Zinc finger DNA-binding domains
(2.1) Nuclear receptor (Cys4)
subfamily 1
subfamily 2
subfamily 3
subfamily 4
subfamily 5
subfamily 6
subfamily 0
(2.2) Other Cys4
(2.3) Cys2His2
(2.4) Cys6
(2.5) Alternating composition
(2.6) WRKY
(3) Helix-turn-helix domains
(3.1) Homeodomain
Antennapedia
ANTP class
protoHOX
Hox-like
metaHOX
NK-like
other
(3.2) Paired box
(3.3) Fork head / winged helix
(3.4) Heat shock factors
(3.5) Tryptophan clusters
(3.6) TEA domain
  • transcriptional enhancer factor
(4) β-Scaffold factors with minor groove contacts
(4.1) Rel homology region
(4.2) STAT
(4.3) p53-like
(4.4) MADS box
(4.6) TATA-binding proteins
(4.7) High-mobility group
(4.9) Grainyhead
(4.10) Cold-shock domain
(4.11) Runt
(0) Other transcription factors
(0.2) HMGI(Y)
(0.3) Pocket domain
(0.5) AP-2/EREBP-related factors
(0.6) Miscellaneous
see also transcription factor/coregulator deficiencies


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