======= BHLHA9 =======
== Gene Information ==
* **Official Symbol**: BHLHA9
* **Official Name**: basic helix-loop-helix family member a9
* **Aliases and Previous Symbols**: N/A
* **Entrez ID**: [[https://www.ncbi.nlm.nih.gov/gene/?term=727857|727857]]
* **UniProt**: [[https://www.uniprot.org/uniprot/Q7RTU4|Q7RTU4]]
* **Interactions**: [[https://thebiogrid.org/search.php?search=BHLHA9&organism=9606|BioGRID]]
* **PubMed articles**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20BHLHA9|Open PubMed]]
* **OMIM**: [[https://omim.org/entry/615416|Open OMIM]]
== Function Summary ==
* **Entrez Summary**: This gene is a member of the basic helix-loop-helix family. The encoded protein is a transcription factor involved in limb development. Mutations in this gene have been associated with mesoaxial synostotic syndactyly Malik-Percin type (MSSD). Copy number variation of a locus containing this gene has been linked to a form of split-hand/foot malformation with long bone deficiency (SHFLD3). [provided by RefSeq, Mar 2015].
* **UniProt Summary**: Transcription factor, which play a role in limb development. Is an essential player in the regulatory network governing transcription of genes implicated in limb morphogenesis. {ECO:0000269|PubMed:22147889, ECO:0000269|PubMed:25466284}.
|HLH|
|protein heterodimerization activity|
|DNA binding|
|DNA-binding transcription factor activity, RNA polymerase II-specific|
\\
=== CRISPR Data ===
^Screen^Score^
|[[:results:exp60|Vinblastine 0.002μM R01 exp60]]|-2.25|
|[[:results:exp59|UMK57 1μM R01 exp59]]|-1.88|
|[[:results:exp46|HMS-I1 1μM R01 exp46]]|-1.73|
No correlation found to any other genes in chemogenomics.
Global Fraction of Cell Lines Where Essential: 0/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|0/28|
|bone|0/26|
|breast|0/33|
|central nervous system|0/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|0/16|
|kidney|0/21|
|liver|0/20|
|lung|0/75|
|lymphocyte|0/16|
|ovary|0/26|
|pancreas|0/24|
|peripheral nervous system|0/16|
|plasma cell|0/15|
|prostate|0/1|
|skin|0/24|
|soft tissue|0/9|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/29|
|uterus|0/5|
== Essentiality in NALM6 ==
* **Essentiality Rank**: 8315
* **Expression level (log2 read counts)**: -7.68
{{:chemogenomics:nalm6 dist.png?nolink |}}