MCFD2 [The Human Chemical-Genetic Interaction Map Project]

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======= MCFD2 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: MCFD2
  * **<color #00a2e8>Official Name</color>**: multiple coagulation factor deficiency 2, ER cargo receptor complex subunit
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=90411|90411]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q8NI22|Q8NI22]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=MCFD2&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20MCFD2|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/607788|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a soluble luminal protein with two calmodulin-like EF-hand motifs at its C-terminus. This protein forms a complex with LMAN1 (lectin mannose binding protein 1; also known as ERGIC-53) that facilitates the transport of coagulation factors V (FV) and VIII (FVIII) from the endoplasmic reticulum to the Golgi apparatus via an endoplasmic reticulum Golgi intermediate compartment (ERGIC). Mutations in this gene cause combined deficiency of FV and FVIII (F5F8D); a rare autosomal recessive bleeding disorder characterized by mild to moderate bleeding and coordinate reduction in plasma FV and FVIII levels. This protein has also been shown to maintain stem cell potential in adult central nervous system and is a marker for testicular germ cell tumors. The 3' UTR of this gene contains a transposon-like human repeat element named 'THE 1'. A processed RNA pseudogene of this gene is on chromosome 6p22.1. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2016]. 
  * **<color #00a2e8>UniProt Summary</color>**:  The MCFD2-LMAN1 complex forms a specific cargo receptor for the ER-to-Golgi transport of selected proteins. Plays a role in the secretion of coagulation factors. {ECO:0000269|PubMed:12717434}.

<button type='default' 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'>
No Pfam Domain information is available for this gene.
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|protein N-linked glycosylation via asparagine|
|peptidyl-asparagine modification|
|ER to Golgi transport vesicle membrane|
|vesicle targeting, rough ER to cis-Golgi|
|COPII vesicle coating|
|vesicle coating|
|COPII-coated vesicle budding|
|vesicle targeting, to, from or within Golgi|
|endoplasmic reticulum-Golgi intermediate compartment membrane|
|Golgi vesicle budding|
|protein N-linked glycosylation|
|vesicle targeting|
|vesicle budding from membrane|
|establishment of vesicle localization|
|vesicle localization|
|endoplasmic reticulum to Golgi vesicle-mediated transport|
|protein glycosylation|
|macromolecule glycosylation|
|glycosylation|
|vesicle organization|
|glycoprotein biosynthetic process|
|establishment of organelle localization|
|Golgi vesicle transport|
|glycoprotein metabolic process|
|organelle localization|
|carbohydrate derivative biosynthetic process|
|Golgi membrane|
|calcium ion binding|
|membrane organization|
|peptidyl-amino acid modification|
|endoplasmic reticulum membrane|
|carbohydrate derivative metabolic process|
|organonitrogen compound biosynthetic process|
|protein transport|
|intracellular transport|
|peptide transport|
|protein-containing complex assembly|
|amide transport|
|establishment of protein localization|
|cellular macromolecule biosynthetic process|
|macromolecule biosynthetic process|
|establishment of localization in cell|
|nitrogen compound transport|
|protein-containing complex subunit organization|
|vesicle-mediated transport|
</modal>
\\

 === CRISPR Data ===
<button type='default' 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'>
No hits were found.
</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>**: 10949
    * **<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='MCFD2 Expression in NALM6 Cells: 7.26'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>