EFHC2 [The Human Chemical-Genetic Interaction Map Project]

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======= EFHC2 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: EFHC2
  * **<color #00a2e8>Official Name</color>**: EF-hand domain containing 2
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=80258|80258]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q5JST6|Q5JST6]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=EFHC2&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20EFHC2|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/300817|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a protein which contains three DM10 domains and three calcium-binding EF-hand motifs. A related protein is encoded by a gene on chromosome 6. It has been suggested that both proteins are involved in the development of epilepsy (PMID: 15258581, 16112844) and that this gene may be associated with fear recognition in individuals with Turner syndrome. [provided by RefSeq, Aug 2011]. 
  * **<color #00a2e8>UniProt Summary</color>**: N/A

<button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
|DUF1126|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|response to leukemia inhibitory factor|
|cellular response to leukemia inhibitory factor|
|microtubule|
|regulation of neuron projection development|
|regulation of neuron differentiation|
|regulation of plasma membrane bounded cell projection organization|
|regulation of cell projection organization|
|calcium ion binding|
|regulation of neurogenesis|
|regulation of nervous system development|
|regulation of cell development|
|cellular response to cytokine stimulus|
|response to cytokine|
|generation of neurons|
|neurogenesis|
|regulation of cell differentiation|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
^Screen^Score^
|[[:results:exp376|Losmapimod 1μM R07 exp376]]|-1.9|
|[[:results:exp316|Geldanamycin 0.015 to 0.025μM on day4 R07 exp316]]|-1.7|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
No correlation found to any other genes in chemogenomics.
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 0/694
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|0/26|
|bone|0/26|
|breast|0/30|
|central nervous system|0/49|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/11|
|fibroblast|0/1|
|gastric|0/14|
|kidney|0/18|
|liver|0/19|
|lung|0/72|
|lymphocyte|0/16|
|ovary|0/25|
|pancreas|0/22|
|peripheral nervous system|0/15|
|plasma cell|0/12|
|prostate|0/1|
|skin|0/20|
|soft tissue|0/9|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/28|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 13379
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: -0.97 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='EFHC2 Expression in NALM6 Cells: -0.97'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>