FA2H [The Human Chemical-Genetic Interaction Map Project]

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======= FA2H =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: FA2H
  * **<color #00a2e8>Official Name</color>**: fatty acid 2-hydroxylase
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=79152|79152]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q7L5A8|Q7L5A8]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=FA2H&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20FA2H|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/611026|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a protein that catalyzes the synthesis of 2-hydroxysphingolipids, a subset of sphingolipids that contain 2-hydroxy fatty acids. Sphingolipids play roles in many cellular processes and their structural diversity arises from modification of the hydrophobic ceramide moiety, such as by 2-hydroxylation of the N-acyl chain, and the existence of many different head groups. Mutations in this gene have been associated with leukodystrophy dysmyelinating with spastic paraparesis with or without dystonia.[provided by RefSeq, Mar 2010]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Required for alpha-hydroxylation of free fatty acids and the formation of alpha-hydroxylated sphingolipids. {ECO:0000269|PubMed:15337768, ECO:0000269|PubMed:17355976}.

<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'>
|FA hydroxylase|
|Cyt-b5|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|sebaceous gland cell differentiation|
|fatty acid alpha-hydroxylase activity|
|glucosylceramide biosynthetic process|
|central nervous system myelin maintenance|
|galactolipid biosynthetic process|
|galactosylceramide biosynthetic process|
|peripheral nervous system myelin maintenance|
|glycosylceramide biosynthetic process|
|glucosylceramide metabolic process|
|sebaceous gland development|
|plasma membrane raft organization|
|galactosylceramide metabolic process|
|galactolipid metabolic process|
|myelin maintenance|
|glycosylceramide metabolic process|
|central nervous system myelination|
|axon ensheathment in central nervous system|
|membrane raft organization|
|establishment of skin barrier|
|glycosphingolipid biosynthetic process|
|regulation of water loss via skin|
|peripheral nervous system axon ensheathment|
|myelination in peripheral nervous system|
|regulation of hair cycle|
|Schwann cell development|
|Schwann cell differentiation|
|oligodendrocyte development|
|ceramide biosynthetic process|
|glycosphingolipid metabolic process|
|glycolipid biosynthetic process|
|multicellular organismal water homeostasis|
|oligodendrocyte differentiation|
|water homeostasis|
|peripheral nervous system development|
|ceramide metabolic process|
|sphingolipid biosynthetic process|
|plasma membrane organization|
|myelination|
|glial cell development|
|ensheathment of neurons|
|axon ensheathment|
|glycolipid metabolic process|
|liposaccharide metabolic process|
|fatty acid biosynthetic process|
|membrane lipid biosynthetic process|
|iron ion binding|
|heme binding|
|sphingolipid metabolic process|
|glial cell differentiation|
|monocarboxylic acid biosynthetic process|
|lipid modification|
|membrane lipid metabolic process|
|gliogenesis|
|carboxylic acid biosynthetic process|
|organic acid biosynthetic process|
|epidermal cell differentiation|
|fatty acid metabolic process|
|multicellular organismal homeostasis|
|skin development|
|gland development|
|epidermis development|
|endomembrane system organization|
|regulation of body fluid levels|
|amide biosynthetic process|
|monocarboxylic acid metabolic process|
|lipid biosynthetic process|
|small molecule biosynthetic process|
|carbohydrate derivative biosynthetic process|
|epithelial cell differentiation|
|cellular amide metabolic process|
|membrane organization|
|carboxylic acid metabolic process|
|endoplasmic reticulum membrane|
|cellular lipid metabolic process|
|oxidation-reduction process|
|central nervous system development|
|oxoacid metabolic process|
|endoplasmic reticulum|
|organic acid metabolic process|
|carbohydrate derivative metabolic process|
|chemical homeostasis|
|epithelium development|
|lipid metabolic process|
|organonitrogen compound biosynthetic process|
|regulation of cell population proliferation|
|neurogenesis|
|cellular nitrogen compound biosynthetic process|
|homeostatic process|
|cell development|
|small molecule metabolic process|
|tissue development|
|membrane|
</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:exp22|MLN-4924 2μM R00 exp22]]|-1.7|
|[[:results:exp242|Radicicol 0.16μM R05 exp242]]|2.04|
</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>**: 11247
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: -4.6 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='FA2H Expression in NALM6 Cells: -4.6'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>