ALAS2 [The Human Chemical-Genetic Interaction Map Project]

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======= ALAS2 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: ALAS2
  * **<color #00a2e8>Official Name</color>**: 5'-aminolevulinate synthase 2
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=212|212]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P22557|P22557]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=ALAS2&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20ALAS2|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/301300|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  The product of this gene specifies an erythroid-specific mitochondrially located enzyme. The encoded protein catalyzes the first step in the heme biosynthetic pathway. Defects in this gene cause X-linked pyridoxine-responsive sideroblastic anemia. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]. 
  * **<color #00a2e8>UniProt Summary</color>**: N/A

<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'>
|Preseq ALAS|
|Aminotran 5|
|Aminotran 1 2|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|5-aminolevulinate synthase activity|
|hemoglobin biosynthetic process|
|oxygen homeostasis|
|protoporphyrinogen IX biosynthetic process|
|hemoglobin metabolic process|
|gas homeostasis|
|protoporphyrinogen IX metabolic process|
|coenzyme binding|
|glycine binding|
|heme biosynthetic process|
|porphyrin-containing compound biosynthetic process|
|tetrapyrrole biosynthetic process|
|heme metabolic process|
|porphyrin-containing compound metabolic process|
|pigment biosynthetic process|
|pyridoxal phosphate binding|
|tetrapyrrole metabolic process|
|cellular iron ion homeostasis|
|pigment metabolic process|
|iron ion homeostasis|
|erythrocyte differentiation|
|erythrocyte homeostasis|
|cellular transition metal ion homeostasis|
|myeloid cell homeostasis|
|transition metal ion homeostasis|
|homeostasis of number of cells|
|cofactor biosynthetic process|
|myeloid cell differentiation|
|response to hypoxia|
|response to decreased oxygen levels|
|mitochondrial matrix|
|response to oxygen levels|
|mitochondrial inner membrane|
|cofactor metabolic process|
|hemopoiesis|
|cellular metal ion homeostasis|
|hematopoietic or lymphoid organ development|
|metal ion homeostasis|
|cellular cation homeostasis|
|cellular ion homeostasis|
|immune system development|
|cation homeostasis|
|inorganic ion homeostasis|
|cellular chemical homeostasis|
|ion homeostasis|
|cellular homeostasis|
|chemical homeostasis|
|response to abiotic stimulus|
|heterocycle biosynthetic process|
|aromatic compound biosynthetic process|
|mitochondrion|
|organic cyclic compound biosynthetic process|
|organonitrogen compound biosynthetic process|
|cellular nitrogen compound biosynthetic process|
|homeostatic process|
|cellular macromolecule biosynthetic process|
|macromolecule biosynthetic process|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='primary' 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:exp500|LY2090314 0.003μM R08 exp500 no dilution day6]]|1.79|
|[[:results:exp103|Taxol 0.004μM R03 exp103]]|1.9|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:h:hspa9|HSPA9]]|0.44|
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 0/694
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|0/26|
|bone|0/26|
|breast|0/30|
|central nervous system|0/49|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/11|
|fibroblast|0/1|
|gastric|0/14|
|kidney|0/18|
|liver|0/19|
|lung|0/72|
|lymphocyte|0/16|
|ovary|0/25|
|pancreas|0/22|
|peripheral nervous system|0/15|
|plasma cell|0/12|
|prostate|0/1|
|skin|0/20|
|soft tissue|0/9|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/28|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 17603
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: -3.59 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='ALAS2 Expression in NALM6 Cells: -3.59'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>