TMEM67 [The Human Chemical-Genetic Interaction Map Project]

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======= TMEM67 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: TMEM67
  * **<color #00a2e8>Official Name</color>**: transmembrane protein 67
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=91147|91147]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q5HYA8|Q5HYA8]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=TMEM67&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20TMEM67|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/609884|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  The protein encoded by this gene localizes to the primary cilium and to the plasma membrane. The gene functions in centriole migration to the apical membrane and formation of the primary cilium. Multiple transcript variants encoding different isoforms have been found for this gene. Defects in this gene are a cause of Meckel syndrome type 3 (MKS3) and Joubert syndrome type 6 (JBTS6). [provided by RefSeq, Nov 2008]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Required for ciliary structure and function. Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition (By similarity). Involved in centrosome migration to the apical cell surface during early ciliogenesis. Involved in the regulation of cilia length and appropriate number through the control of centrosome duplication. Required for cell branching morphology. Essential for endoplasmic reticulum-associated degradation (ERAD) of surfactant protein C (SFTPC). {ECO:0000250, ECO:0000269|PubMed:17185389, ECO:0000269|PubMed:19515853, ECO:0000269|PubMed:19596800, ECO:0000269|PubMed:19815549}.

<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'>
|Meckelin|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|filamin binding|
|negative regulation of centrosome duplication|
|MKS complex|
|negative regulation of centrosome cycle|
|ciliary transition zone|
|regulation of centrosome duplication|
|ciliary membrane|
|regulation of centrosome cycle|
|ubiquitin-dependent ERAD pathway|
|ERAD pathway|
|ciliary basal body-plasma membrane docking|
|unfolded protein binding|
|negative regulation of cytoskeleton organization|
|cytoplasmic vesicle membrane|
|organelle localization by membrane tethering|
|membrane docking|
|regulation of microtubule cytoskeleton organization|
|regulation of microtubule-based process|
|response to endoplasmic reticulum stress|
|proteasome-mediated ubiquitin-dependent protein catabolic process|
|negative regulation of cell cycle process|
|cilium assembly|
|proteasomal protein catabolic process|
|cilium organization|
|negative regulation of organelle organization|
|plasma membrane bounded cell projection assembly|
|cell projection assembly|
|centrosome|
|ubiquitin-dependent protein catabolic process|
|modification-dependent protein catabolic process|
|regulation of cytoskeleton organization|
|modification-dependent macromolecule catabolic process|
|negative regulation of cell cycle|
|organelle localization|
|proteolysis involved in cellular protein catabolic process|
|cellular protein catabolic process|
|protein catabolic process|
|negative regulation of cellular component organization|
|regulation of cell cycle process|
|organelle assembly|
|cellular macromolecule catabolic process|
|endoplasmic reticulum membrane|
|response to organonitrogen compound|
|macromolecule catabolic process|
|organonitrogen compound catabolic process|
|response to nitrogen compound|
|plasma membrane bounded cell projection organization|
|cell projection organization|
|regulation of cell cycle|
|proteolysis|
|regulation of organelle organization|
|cellular response to stress|
|organic substance catabolic process|
|cellular catabolic process|
</modal>
\\

 === CRISPR Data ===
<button type='default' 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'>
No hits were found.
</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>**: 18659
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 4.53 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='TMEM67 Expression in NALM6 Cells: 4.53'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>