======= DDHD2 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: DDHD2
  * **<color #00a2e8>Official Name</color>**: DDHD domain containing 2
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=23259|23259]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/O94830|O94830]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=DDHD2&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20DDHD2|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/615003|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a phospholipase enzyme containing sterile-alpha-motif (SAM), WWE, and DDHD domains. This protein participates in membrane trafficking between the endoplastic reticulum and the Golgi body. Mutations in this gene can cause autosomal recessive spastic paraplegia 54. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Phospholipase that hydrolyzes preferentially phosphatidic acid, including 1,2-dioleoyl-sn-phosphatidic acid, and phosphatidylethanolamine. Specifically binds to phosphatidylinositol 3-phosphate (PI(3)P), phosphatidylinositol 4- phosphate (PI(4)P), phosphatidylinositol 5-phosphate (PI(5)P) and possibly phosphatidylinositol 4,5-bisphosphate (PI(4,5)P2). May be involved in the maintenance of the endoplasmic reticulum and/or Golgi structures. May regulate the transport between Golgi apparatus and plasma membrane. {ECO:0000269|PubMed:11788596, ECO:0000269|PubMed:20932832, ECO:0000269|PubMed:22922100}.

<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'>
|DDHD|
|WWE|
|SAM 1|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|positive regulation of mitochondrial fission|
|phospholipase activity|
|lipid droplet organization|
|triglyceride lipase activity|
|regulation of mitochondrial fission|
|triglyceride catabolic process|
|neutral lipid catabolic process|
|acylglycerol catabolic process|
|phosphatidic acid biosynthetic process|
|phosphatidic acid metabolic process|
|COPII-coated ER to Golgi transport vesicle|
|visual learning|
|glycerolipid catabolic process|
|visual behavior|
|triglyceride metabolic process|
|endoplasmic reticulum-Golgi intermediate compartment|
|associative learning|
|acylglycerol metabolic process|
|neutral lipid metabolic process|
|positive regulation of mitochondrion organization|
|learning|
|microtubule organizing center|
|regulation of mitochondrion organization|
|cellular lipid catabolic process|
|locomotory behavior|
|glycerophospholipid biosynthetic process|
|endoplasmic reticulum to Golgi vesicle-mediated transport|
|glycerolipid biosynthetic process|
|phospholipid biosynthetic process|
|learning or memory|
|cognition|
|lipid catabolic process|
|response to light stimulus|
|glycerophospholipid metabolic process|
|Golgi vesicle transport|
|phospholipid metabolic process|
|glycerolipid metabolic process|
|response to radiation|
|organophosphate biosynthetic process|
|behavior|
|lipid biosynthetic process|
|positive regulation of organelle organization|
|organophosphate metabolic process|
|cellular lipid metabolic process|
|Golgi apparatus|
|regulation of anatomical structure morphogenesis|
|response to abiotic stimulus|
|positive regulation of cellular component organization|
|lipid metabolic process|
|regulation of organelle organization|
|positive regulation of developmental process|
|nervous system process|
|intracellular transport|
|organic substance catabolic process|
|cellular catabolic process|
|establishment of localization in cell|
|vesicle-mediated transport|
|system process|
|membrane|
</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:exp215|Colchicine 0.009μM R05 exp215]]|-2.37|
|[[:results:exp495|IWR1 50μM R08 exp495]]|-2.08|
|[[:results:exp359|FK-506 30μM R07 exp359]]|-2|
|[[:results:exp504|MK2206 4μM R08 exp504]]|1.75|
|[[:results:exp34|Rotenone 20μM R00 exp34]]|1.8|
|[[:results:exp35|TRAIL 5ng/ml R00 exp35]]|1.9|
|[[:results:exp535|Trimetrexate 0.03μM R08 exp535]]|1.92|
|[[:results:exp465|Cannabidiol 13μM R08 exp465]]|1.96|
|[[:results:exp28|Pimelic-diphenylamide-106 5μM R00 exp28]]|2.15|
|[[:results:exp478|Doxorubicin 0.02μM R08 exp478]]|2.2|
|[[:results:exp512|Olaparib 4μM R08 exp512]]|2.32|
|[[:results:exp488|Hippuristanol 0.12μM R08 exp488]]|2.46|
|[[:results:exp440|Aphidicolin 0.4μM R08 exp440]]|2.53|
|[[:results:exp489|Hippuristanol 0.12μM R08 exp489 no dilution day6]]|2.63|
|[[:results:exp135|MS023 7μM R03 exp135]]|2.9|
|[[:results:exp2|5-Fluorouracil 20μM R00 exp2]]|2.93|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:a:apaf1|APAF1]]|0.493|
|[[:human genes:b:bak1|BAK1]]|0.482|
|[[:human genes:m:mfn1|MFN1]]|0.458|
|[[:human genes:u:ubqln1|UBQLN1]]|0.458|
|[[:human genes:e:eny2|ENY2]]|0.457|
|[[:human genes:d:diablo|DIABLO]]|0.448|
|[[:human genes:m:march5|MARCH5]]|0.446|
|[[:human genes:v:vdac2|VDAC2]]|0.442|
|[[:human genes:c:casp9|CASP9]]|0.439|
|[[:human genes:p:ppp2r3c|PPP2R3C]]|0.43|
|[[:human genes:p:plaa|PLAA]]|0.426|
|[[:human genes:s:serf2|SERF2]]|0.422|
|[[:human genes:h:hccs|HCCS]]|0.417|
|[[:human genes:f:faf2|FAF2]]|0.416|
|[[:human genes:c:cycs|CYCS]]|0.404|
</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>**: 14457
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 6.23 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='DDHD2 Expression in NALM6 Cells: 6.23'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>