• Gene id: 27319

Gene Summary

• Gene Symbol: BHLHE22   Gene   UCSC   Ensembl
• Aliases: BHLHB5, Beta3, Beta3a, CAGL85, TNRC20
• Gene name: basic helix-loop-helix family member e22
• Alternate names: class E basic helix-loop-helix protein 22, basic helix-loop-helix domain containing, class B, 5, class B basic helix-loop-helix protein 5, trinucleotide repeat containing 20,
• Gene location: 8q12.3 (64580364: 64583626)     Exons: 1     NC_000008.11
• Gene summary(Entrez): This gene encodes a protein that belongs to the basic helix-loop-helix (bHLH) family of transcription factors that regulate cell fate determination, proliferation, and differentiation. A similar protein in mouse is required for the development of the dors
• OMIM: 613483

Protein Summary

• Protein general information: Q8NFJ8  
  • Name: Class E basic helix loop helix protein 22 (bHLHe22) (Class B basic helix loop helix protein 5) (bHLHb5) (Trinucleotide repeat containing gene 20 protein)
  • Length: 381  
  • Mass: 36997
  • Tissue specificity: Brain-specific, with the highest expression in the cerebellum. {ECO
• Sequence:

  MERGMHLGAAAAGEDDLFLHKSLSASTSKRLEAAFRSTPPGMDLSLAPPPRERPASSSSSPLGCFEPADPEGAGL
  LLPPPGGGGGGSAGSGGGGGGGVGVPGLLVGSAGVGGDPSLSSLPAGAALCLKYGESASRGSVAESSGGEQSPDD
  DSDGRCELVLRAGVADPRASPGAGGGGAKAAEGCSNAHLHGGASVPPGGLGGGGGGGSSSGSSGGGGGSGSGSGG
  SSSSSSSSSKKSKEQKALRLNINARERRRMHDLNDALDELRAVIPYAHSPSVRKLSKIATLLLAKNYILMQAQAL
  EEMRRLVAYLNQGQAISAASLPSSAAAAAAAAALHPALGAYEQAAGYPFSAGLPPAASCPEKCALFNSVSSSLCK
  QCTEKP

• Structural information:
  • Protein Domains: (242..29-)
    (/note="bHLH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00981"-)
  • Interpro: IPR011598  IPR032654  IPR036638  
  • Prosite: PS50888
  • CDD: cd00083
  • STRING: ENSP00000318799
• Other Databases: GeneCards:  BHLHE22  Malacards:  BHLHE22

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0022008	neurogenesis	IEA	biological process
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0046983	protein dimerization activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0007399	nervous system development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)