BHLHE23 (basic helix-loop-helix family member e23)

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Gene Gene ontology Other IDs Protein Diseases linked via similar genes

Gene

• Entrez ID: 128408
• Gene name: Basic helix-loop-helix family member e23
• Gene symbol: BHLHE23
• Synonyms (NCBI Gene): BETA4, BHLHB4, Beta3b, bA305P22.3
• Chromosome: 20
• Chromosome location: 20q13.33
• Summary: This gene encodes a member of the basic helix-loop-helix transcription factor family. Members of this family contain two highly conserved and functionally distinct domains: the basic domain targets sequence-specific DNA binding, while the helix-loop-helix

Gene ontology (GO) Show/Hide all (14)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	32296183, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0007423	Process	Sensory organ development	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0046983	Function	Protein dimerization activity	IEA
GO:0061564	Process	Axon development	IBA
GO:0070888	Function	E-box binding	IBA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IEA

Other IDs

• MIM: 609331
• HGNC: 16093
• e!Ensembl: ENSG00000125533

Protein

• UniProt ID: Q8NDY6
• Protein name: Class E basic helix-loop-helix protein 23 (bHLHe23) (Class B basic helix-loop-helix protein 4) (bHLHb4)
• Protein function: May function as transcriptional repressor. May modulate the expression of genes required for the differentiation and/or maintenance of pancreatic and neuronal cell types. May be important for rod bipolar cell maturation (By similarity). {ECO:000
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00010	HLH	101 → 155	Helix-loop-helix DNA-binding domain	Domain

• Sequence:

  MAELKSLSGDAYLALSHGYAAAAAGLAYGAAREPEAARGYGTPGPGGDLPAAPAPRAPAQ
  AAESSGEQSGDEDDAFEQRRRRRGPGSAADGRRRPREQRSLRLSINARERRRMHDLNDAL
  DGLRAVIPYAHSPSVRKLSKIATLLLAKNYILMQAQALDEMRRLVAFLNQGQGLAAPVNA
  APLTPFGQATVCPFSAGAALGPCPDKCAAFSGTPSALCKHCHEKP

• Sequence length: 225

Related Genes

No strongly related genes found yet for BHLHE23.

Diseases Linked via Similar Genes

No additional diseases found yet through genes similar to BHLHE23.