AFG3L2 [The Human Chemical-Genetic Interaction Map Project]

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======= AFG3L2 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: AFG3L2
  * **<color #00a2e8>Official Name</color>**: AFG3 like matrix AAA peptidase subunit 2
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=10939|10939]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q9Y4W6|Q9Y4W6]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=AFG3L2&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20AFG3L2|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/604581|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a protein localized in mitochondria and closely related to paraplegin. The paraplegin gene is responsible for an autosomal recessive form of hereditary spastic paraplegia. This gene is a candidate gene for other hereditary spastic paraplegias or neurodegenerative disorders. [provided by RefSeq, Jul 2008]. 
  * **<color #00a2e8>UniProt Summary</color>**:  ATP-dependent protease which is essential for axonal and neuron development. In neurons, mediates degradation of SMDT1/EMRE before its assembly with the uniporter complex, limiting the availability of SMDT1/EMRE for MCU assembly and promoting efficient assembly of gatekeeper subunits with MCU (PubMed:27642048). Required for the maturation of paraplegin (SPG7) after its cleavage by mitochondrial-processing peptidase (MPP), converting it into a proteolytically active mature form (By similarity). {ECO:0000250|UniProtKB:Q8JZQ2, ECO:0000269|PubMed:27642048}.

<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'>
|AAA|
|FtsH ext|
|Peptidase M41|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|m-AAA complex|
|righting reflex|
|calcium import into the mitochondrion|
|mitochondrial protein processing|
|protein autoprocessing|
|mitochondrial fusion|
|reflex|
|mitochondrial calcium ion transmembrane transport|
|mitochondrial calcium ion homeostasis|
|cristae formation|
|neuromuscular junction development|
|calcium ion import|
|inner mitochondrial membrane organization|
|muscle fiber development|
|metallopeptidase activity|
|regulation of multicellular organism growth|
|nerve development|
|cytosolic calcium ion transport|
|mitochondrial transmembrane transport|
|organelle fusion|
|metalloendopeptidase activity|
|myelination|
|ensheathment of neurons|
|axon ensheathment|
|mitochondrial membrane organization|
|unfolded protein binding|
|striated muscle cell development|
|muscle cell development|
|protein processing|
|calcium ion transmembrane transport|
|striated muscle cell differentiation|
|mitochondrial transport|
|protein maturation|
|muscle cell differentiation|
|calcium ion transport|
|synapse organization|
|divalent metal ion transport|
|divalent inorganic cation transport|
|regulation of developmental growth|
|axonogenesis|
|mitochondrial inner membrane|
|axon development|
|cell morphogenesis involved in neuron differentiation|
|cellular calcium ion homeostasis|
|mitochondrion organization|
|calcium ion homeostasis|
|cellular divalent inorganic cation homeostasis|
|muscle structure development|
|neuron projection morphogenesis|
|plasma membrane bounded cell projection morphogenesis|
|divalent inorganic cation homeostasis|
|cell projection morphogenesis|
|cell part morphogenesis|
|cell morphogenesis involved in differentiation|
|cellular metal ion homeostasis|
|inorganic cation transmembrane transport|
|cation transmembrane transport|
|metal ion homeostasis|
|cellular cation homeostasis|
|metal ion transport|
|cellular ion homeostasis|
|inorganic ion transmembrane transport|
|neuron projection development|
|regulation of growth|
|cation homeostasis|
|inorganic ion homeostasis|
|cell morphogenesis|
|cellular chemical homeostasis|
|ion homeostasis|
|neuron development|
|cellular component morphogenesis|
|cation transport|
|zinc ion binding|
|membrane organization|
|cellular homeostasis|
|ion transmembrane transport|
|neuron differentiation|
|chemical homeostasis|
|plasma membrane bounded cell projection organization|
|cell projection organization|
|mitochondrion|
|proteolysis|
|transmembrane transport|
|ion transport|
|ATP binding|
|generation of neurons|
|neurogenesis|
|homeostatic process|
|cell development|
|gene expression|
</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:exp483|FTY720 3μM R08 exp483]]|1.71|
|[[:results:exp312|2-Methoxyestradiol 0.55 to 1μM on day4 R07 exp312]]|1.73|
|[[:results:exp503|Mitomycin-C 0.06μM R08 exp503]]|1.74|
|[[:results:exp372|Ibrutinib 1μM R07 exp372]]|1.81|
</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: 482/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|14/28|
|blood|13/28|
|bone|17/26|
|breast|24/33|
|central nervous system|36/56|
|cervix|4/4|
|colorectal|13/17|
|esophagus|10/13|
|fibroblast|0/1|
|gastric|12/16|
|kidney|14/21|
|liver|16/20|
|lung|53/75|
|lymphocyte|10/16|
|ovary|14/26|
|pancreas|17/24|
|peripheral nervous system|8/16|
|plasma cell|8/15|
|prostate|1/1|
|skin|13/24|
|soft tissue|5/9|
|thyroid|1/2|
|upper aerodigestive|18/22|
|urinary tract|21/29|
|uterus|2/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 461
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 7.18 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='AFG3L2 Expression in NALM6 Cells: 7.18'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>