HEATR2 [The Human Chemical-Genetic Interaction Map Project]

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======= HEATR2 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: DNAAF5
  * **<color #00a2e8>Official Name</color>**: dynein axonemal assembly factor 5
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=54919|54919]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q86Y56|Q86Y56]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=HEATR2&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20HEATR2|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/614864|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  The protein encoded by this gene is essential for the preassembly or stability of axonemal dynein arms, and is found only in organisms with motile cilia and flagella. Mutations in this gene are associated with primary ciliary dyskinesia-18, a disorder characterized by abnormalities of motile cilia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2013]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Cytoplasmic protein involved in the delivery of the dynein machinery to the motile cilium. It is required for the assembly of the axonemal dynein inner and outer arms, two structures attached to the peripheral outer doublet A microtubule of the axoneme, that play a crucial role in cilium motility. {ECO:0000269|PubMed:23040496, ECO:0000269|PubMed:25232951}.

<button type='default' 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'>
No Pfam Domain information is available for this gene.
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|inner dynein arm assembly|
|outer dynein arm assembly|
|dynein intermediate chain binding|
|axonemal dynein complex assembly|
|cilium movement|
|axoneme assembly|
|microtubule bundle formation|
|motile cilium|
|microtubule-based movement|
|cilium assembly|
|cilium organization|
|plasma membrane bounded cell projection assembly|
|cell projection assembly|
|microtubule cytoskeleton organization|
|microtubule-based process|
|organelle assembly|
|cellular protein-containing complex assembly|
|cytoskeleton organization|
|plasma membrane bounded cell projection organization|
|cell projection organization|
|movement of cell or subcellular component|
|protein-containing complex assembly|
|protein-containing complex subunit organization|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='primary' 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:exp34|Rotenone 20μM R00 exp34]]|-1.82|
|[[:results:exp282|Fluvastatin 2.2μM R06 exp282]]|1.98|
|[[:results:exp21|MLN-4924 0.2μM R00 exp21]]|2.51|
|[[:results:exp505|ML-792 0.2μM R08 exp505]]|2.68|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:r:rrm1|RRM1]]|0.535|
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 5/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|1/28|
|bone|0/26|
|breast|1/33|
|central nervous system|0/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|0/16|
|kidney|0/21|
|liver|1/20|
|lung|0/75|
|lymphocyte|0/16|
|ovary|0/26|
|pancreas|0/24|
|peripheral nervous system|0/16|
|plasma cell|2/15|
|prostate|0/1|
|skin|0/24|
|soft tissue|0/9|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/29|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 980
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 5.61 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='HEATR2 Expression in NALM6 Cells: 5.61'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>