TMEM107 [The Human Chemical-Genetic Interaction Map Project]

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======= TMEM107 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: TMEM107
  * **<color #00a2e8>Official Name</color>**: transmembrane protein 107
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=84314|84314]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q6UX40|Q6UX40]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=TMEM107&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20TMEM107|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/616183|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a transmembrane protein and component of the primary cilia transition zone. The encoded protein regulates ciliogenesis and ciliary protein composition. Human fibroblasts expressing a mutant allele of this gene exhibit reduced numbers of cilia, altered cilia length, and impaired sonic hedgehog signaling. In human patients, different mutations in this gene cause different ciliopathies, including Meckel-Gruber syndrome and orofaciodigital syndrome. [provided by RefSeq, May 2017]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Plays a role in cilia formation and embryonic patterning. Requires for normal Sonic hedgehog (Shh) signaling in the neural tube and acts in combination with GLI2 and GLI3 to pattern ventral and intermediate neuronal cell types (By similarity). During ciliogenesis regulates the ciliary transition zone localization of some MKS complex proteins (PubMed:26518474). {ECO:0000250|UniProtKB:Q9CPV0, ECO:0000269|PubMed:26518474}.

<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'>
|protein localization to ciliary transition zone|
|MKS complex|
|ciliary transition zone|
|neural tube patterning|
|non-motile cilium assembly|
|protein localization to cilium|
|embryonic digit morphogenesis|
|embryonic appendage morphogenesis|
|embryonic limb morphogenesis|
|appendage morphogenesis|
|limb morphogenesis|
|neural tube development|
|limb development|
|appendage development|
|regionalization|
|cilium assembly|
|cilium organization|
|pattern specification process|
|plasma membrane bounded cell projection assembly|
|cell projection assembly|
|embryonic morphogenesis|
|chordate embryonic development|
|embryo development ending in birth or egg hatching|
|protein localization to organelle|
|organelle assembly|
|molecular function|
|tube development|
|embryo development|
|epithelium development|
|plasma membrane bounded cell projection organization|
|cell projection organization|
|cellular protein localization|
|cellular macromolecule localization|
|tissue development|
</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:exp475|CyclicAMP 200μM R08 exp475]]|-1.98|
|[[:results:exp116|AICAR 240μM R03 exp116]]|1.74|
</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: 0/739
^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|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 12934
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 2.87 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='TMEM107 Expression in NALM6 Cells: 2.87'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>