SPAG17 [The Human Chemical-Genetic Interaction Map Project]

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======= SPAG17 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: SPAG17
  * **<color #00a2e8>Official Name</color>**: sperm associated antigen 17
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=200162|200162]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q6Q759|Q6Q759]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=SPAG17&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20SPAG17|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/616554|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a central pair protein present in the axonemes of cells with a '9 + 2' organization of microtubules. The encoded protein is required for the proper function of the axoneme. Mutations in the orthologous gene in mice lead to primary ciliary dyskinesia characterized by immotile nasal and tracheal cilia, reduced clearance of nasal mucus, profound respiratory distress, hydrocephalus, and neonatal lethality within twelve hours of birth due to impaired airway mucociliary clearance. Single-nucleotide polymorphisms in this gene are associated with human height and targeted mutations lead to skeletal malformations affecting the limbs in mice, suggesting a role for this gene in skeletal development. [provided by RefSeq, Feb 2017]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Component of the central pair apparatus of ciliary axonemes. Plays a critical role in the function and structure of motile cilia. May play a role in endochondral bone formation, most likely because of a function in primary cilia of chondrocytes and osteoblasts. {ECO:0000250|UniProtKB:Q5S003}.

<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'>
|axonemal central apparatus|
|axonemal central apparatus assembly|
|epithelial cilium movement involved in extracellular fluid movement|
|extracellular transport|
|cilium movement|
|axoneme assembly|
|microtubule bundle formation|
|motile cilium|
|microtubule-based transport|
|microtubule-based movement|
|microtubule|
|cilium assembly|
|cilium organization|
|plasma membrane bounded cell projection assembly|
|cell projection assembly|
|microtubule cytoskeleton organization|
|microtubule-based process|
|organelle assembly|
|cytoskeleton organization|
|plasma membrane bounded cell projection organization|
|cell projection organization|
|movement of cell or subcellular component|
|extracellular region|
</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:exp11|CCCP 1μM R00 exp11]]|-1.84|
|[[:results:exp442|Ibrutinib 10μM R08 exp442]]|-1.74|
|[[:results:exp420|Tunicamycin 0.04 to 0.125μM  on day4 R07 exp420]]|1.74|
|[[:results:exp375|Lenalidomide 20μM R07 exp375]]|2.05|
|[[:results:exp358|FK-506 5μM R07 exp358]]|2.22|
</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: 1/739
^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|1/16|
|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|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 16925
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 0.65 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='SPAG17 Expression in NALM6 Cells: 0.65'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>