DHCR7 [The Human Chemical-Genetic Interaction Map Project]

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======= DHCR7 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: DHCR7
  * **<color #00a2e8>Official Name</color>**: 7-dehydrocholesterol reductase
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=1717|1717]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q9UBM7|Q9UBM7]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=DHCR7&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20DHCR7|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/602858|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes an enzyme that removes the C(7-8) double bond in the B ring of sterols and catalyzes the conversion of 7-dehydrocholesterol to cholesterol. This gene is ubiquitously expressed and its transmembrane protein localizes to the endoplasmic reticulum membrane and nuclear outer membrane. Mutations in this gene cause Smith-Lemli-Opitz syndrome (SLOS); a syndrome that is metabolically characterized by reduced serum cholesterol levels and elevated serum 7-dehydrocholesterol levels and phenotypically characterized by cognitive disability, facial dysmorphism, syndactyly of second and third toes, and holoprosencephaly in severe cases to minimal physical abnormalities and near-normal intelligence in mild cases. Alternative splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, Aug 2009]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Production of cholesterol by reduction of C7-C8 double bond of 7-dehydrocholesterol (7-DHC).

<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'>
|ERG4 ERG24|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|brassinosteroid biosynthetic process|
|brassinosteroid metabolic process|
|sterol delta7 reductase activity|
|7-dehydrocholesterol reductase activity|
|phytosteroid biosynthetic process|
|phytosteroid metabolic process|
|cholesterol biosynthetic process via lathosterol|
|cholesterol biosynthetic process via desmosterol|
|nuclear outer membrane|
|NADP binding|
|cholesterol biosynthetic process|
|regulation of sterol biosynthetic process|
|secondary alcohol biosynthetic process|
|regulation of cholesterol biosynthetic process|
|steroid hormone biosynthetic process|
|sterol biosynthetic process|
|regulation of cholesterol metabolic process|
|hormone biosynthetic process|
|regulation of alcohol biosynthetic process|
|multicellular organism growth|
|regulation of steroid biosynthetic process|
|post-embryonic development|
|integral component of endoplasmic reticulum membrane|
|alcohol biosynthetic process|
|regulation of steroid metabolic process|
|cholesterol metabolic process|
|steroid biosynthetic process|
|secondary alcohol metabolic process|
|sterol metabolic process|
|lung development|
|respiratory tube development|
|organic hydroxy compound biosynthetic process|
|regulation of lipid biosynthetic process|
|respiratory system development|
|hormone metabolic process|
|steroid metabolic process|
|alcohol metabolic process|
|developmental growth|
|growth|
|regulation of lipid metabolic process|
|regulation of small molecule metabolic process|
|organic hydroxy compound metabolic process|
|blood vessel development|
|vasculature development|
|cardiovascular system development|
|regulation of hormone levels|
|lipid biosynthetic process|
|small molecule biosynthetic process|
|tube development|
|circulatory system development|
|endoplasmic reticulum membrane|
|oxidation-reduction process|
|endoplasmic reticulum|
|lipid metabolic process|
|organic cyclic compound biosynthetic process|
|regulation of cell population proliferation|
|small molecule metabolic process|
|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:exp155|UNC1999 2μM R03 exp155]]|-2.06|
|[[:results:exp363|GSK-J4 1-1.25μM to day4 R07 exp363]]|-1.77|
|[[:results:exp529|Thimerosal 0.85μM R08 exp529]]|1.7|
|[[:results:exp190|Vincristine 0.0005μM R04 exp190]]|1.78|
|[[:results:exp212|Phenformin 20μM R05 exp212]]|1.86|
</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>**: 13751
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 7.26 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='DHCR7 Expression in NALM6 Cells: 7.26'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>