FAM83H [The Human Chemical-Genetic Interaction Map Project]

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======= FAM83H =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: FAM83H
  * **<color #00a2e8>Official Name</color>**: family with sequence similarity 83 member H
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=286077|286077]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q6ZRV2|Q6ZRV2]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=FAM83H&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20FAM83H|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/611927|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  The protein encoded by this gene plays an important role in the structural development and calcification of tooth enamel. Defects in this gene are a cause of amelogenesis imperfecta type 3 (AI3). [provided by RefSeq, Mar 2010]. 
  * **<color #00a2e8>UniProt Summary</color>**:  May play a major role in the structural organization and calcification of developing enamel (PubMed:18252228). May play a role in keratin cytoskeleton disassembly by recruiting CSNK1A1 to keratin filaments. Thereby, it may regulate epithelial cell migration (PubMed:23902688). {ECO:0000269|PubMed:18252228, ECO:0000269|PubMed:23902688}.

<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'>
|DUF1669|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|keratin filament binding|
|protein localization to cytoskeleton|
|intermediate filament cytoskeleton organization|
|intermediate filament-based process|
|biomineral tissue development|
|biomineralization|
|keratin filament|
|protein kinase binding|
|positive regulation of cell migration|
|positive regulation of cell motility|
|positive regulation of cellular component movement|
|positive regulation of locomotion|
|protein localization to organelle|
|regulation of cell migration|
|regulation of cell motility|
|regulation of locomotion|
|regulation of cellular component movement|
|cytoskeleton 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:exp223|Cabazitaxel 0.001μM R05 exp223]]|-1.75|
|[[:results:exp389|PF-06409577 20μM R07 exp389]]|1.77|
</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|1/28|
|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>**: 8257
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 0.8 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='FAM83H Expression in NALM6 Cells: 0.8'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>