BHLHE23
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 domain facilitates protein interaction. Studies of a related gene in mouse suggest that the encoded protein may function as a transcriptional repressor in the pancreas and brain, and that it is required for normal retinal function. [provided by RefSeq, May 2013].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| basic helix-loop-helix family member e23 | MIM:609331 | Ensembl:ENSG00000125533 | HGNC:HGNC:16093 | PA164716615 | 20q13.33 |
GO terms in BHLHE23
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | ISA | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | ISM | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | NAS | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | IEA | GO:0003677 | DNA binding |
| MF | IEA | GO:0046983 | protein dimerization activity |
| BP | IEA | GO:0006351 | transcription, DNA-templated |
| BP | IEA | GO:0006357 | regulation of transcription by RNA polymerase II |
| BP | IEA | GO:0048468 | cell development |
| CC | IEA | GO:0005634 | nucleus |
Gene expression in normal tissue: BHLHE23
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in BHLHE23
| Database | Pathway ID | Pathway Des. |
|---|
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in BHLHE23
CLASSFICATION
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