• Gene id: 8553

Gene Summary

• Gene Symbol: BHLHE40   Gene   UCSC   Ensembl
• Aliases: BHLHB2, Clast5, DEC1, HLHB2, SHARP-2, SHARP2, STRA13, Stra14
• Gene name: basic helix-loop-helix family member e40
• Alternate names: class E basic helix-loop-helix protein 40, basic helix-loop-helix domain containing, class B, 2, class B basic helix-loop-helix protein 2, differentially expressed in chondrocytes 1, differentially expressed in chondrocytes protein 1, differentiated embryo cho,
• Gene location: 3p26.1 (179365703: 179554734)     Exons: 34     NC_000001.11
• Gene summary(Entrez): 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 believe
• OMIM: 604256

Protein Summary

• Protein general information: O14503  
  • Name: Class E basic helix loop helix protein 40 (bHLHe40) (Class B basic helix loop helix protein 2) (bHLHb2) (Differentially expressed in chondrocytes protein 1) (DEC1) (Enhancer of split and hairy related protein 2) (SHARP 2) (Stimulated by retinoic acid gene
  • Length: 412  
  • Mass: 45510
  • Tissue specificity: Expressed in cartilage, spleen, intestine, lung, and to a lesser extent in heart, brain, liver, muscle and stomach.
• Sequence:

  MERIPSAQPPPACLPKAPGLEHGDLPGMYPAHMYQVYKSRRGIKRSEDSKETYKLPHRLIEKKRRDRINECIAQL
  KDLLPEHLKLTTLGHLEKAVVLELTLKHVKALTNLIDQQQQKIIALQSGLQAGELSGRNVETGQEMFCSGFQTCA
  REVLQYLAKHENTRDLKSSQLVTHLHRVVSELLQGGTSRKPSDPAPKVMDFKEKPSSPAKGSEGPGKNCVPVIQR
  TFAHSSGEQSGSDTDTDSGYGGESEKGDLRSEQPCFKSDHGRRFTMGERIGAIKQESEEPPTKKNRMQLSDDEGH
  FTSSDLISSPFLGPHPHQPPFCLPFYLIPPSATAYLPMLEKCWYPTSVPVLYPGLNASAAALSSFMNPDKISAPL
  LMPQRLPSPLPAHPSVDSSVLLQALKPIPPLNLETKD

• Structural information:
  • Protein Domains: (52..10-)
    (/note="bHLH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00981-)
    (142..17-)
    (/note="Orange-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00380"-)
  • Interpro: IPR011598  IPR036638  IPR003650  
  • Prosite: PS50888 PS51054
  • CDD: cd00083
  • DIP: 36698
  • STRING: ENSP00000256495
• Other Databases: GeneCards:  BHLHE40  Malacards:  BHLHE40

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0009952	anterior/posterior pattern specification	IBA	biological process
GO:0030154	cell differentiation	IBA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IBA	biological process
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0032922	circadian regulation of gene expression	IBA	biological process
GO:0050767	regulation of neurogenesis	IBA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0007623	circadian rhythm	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0070888	E-box binding	IDA	molecular function
GO:0045892	negative regulation of transcription, DNA-templated	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0042752	regulation of circadian rhythm	ISS	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0046983	protein dimerization activity	IEA	molecular function
GO:0048511	rhythmic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0043153	entrainment of circadian clock by photoperiod	IEA	biological process
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0070888	E-box binding	IEA	molecular function
GO:0043426	MRF binding	IEA	molecular function
GO:0042752	regulation of circadian rhythm	IEA	biological process
GO:0032922	circadian regulation of gene expression	IEA	biological process
GO:0009416	response to light stimulus	IEA	biological process
GO:0007623	circadian rhythm	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003714	transcription corepressor activity	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA	molecular function
GO:0001102	RNA polymerase II activating transcription factor binding	IEA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IDA	molecular function
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	molecular function
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	molecular function
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	molecular function
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	molecular function
GO:0070888	E-box binding	IDA	molecular function
GO:0070888	E-box binding	IDA	molecular function
GO:0070888	E-box binding	IDA	molecular function
GO:0070888	E-box binding	IDA	molecular function
GO:0070888	E-box binding	IDA	molecular function
GO:0070888	E-box binding	IDA	molecular function
GO:0043425	bHLH transcription factor binding	IPI	molecular function
GO:0043425	bHLH transcription factor binding	IPI	molecular function
GO:0043425	bHLH transcription factor binding	IPI	molecular function
GO:0001102	RNA polymerase II activating transcription factor binding	ISS	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISS	molecular function
GO:0019904	protein domain specific binding	IPI	molecular function
GO:0043426	MRF binding	ISS	molecular function
GO:0046982	protein heterodimerization activity	IPI	molecular function
GO:0046982	protein heterodimerization activity	IPI	molecular function
GO:0046982	protein heterodimerization activity	IPI	molecular function
GO:0046982	protein heterodimerization activity	IPI	molecular function
GO:0043433	negative regulation of DNA-binding transcription factor activity	IDA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0032922	circadian regulation of gene expression	IDA	biological process
GO:0043153	entrainment of circadian clock by photoperiod	ISS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016604	nuclear body	IDA	cellular component
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	molecular function
GO:0003700	DNA-binding transcription factor activity	NAS	molecular function
GO:0006355	regulation of transcription, DNA-templated	NAS	biological process
GO:0005634	nucleus	NAS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04710	Circadian rhythm

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Male infertility, Embryo quality	MIK: 26361204
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
26361204	Male infertility, Embryo quality			181 (127 men undergoing IVF treatment, 54 normozoospermic, fertile men)	Male infertility	Microarray