HFE2 [The Human Chemical-Genetic Interaction Map Project]

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======= HFE2 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: HJV
  * **<color #00a2e8>Official Name</color>**: hemojuvelin BMP co-receptor
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=148738|148738]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q6ZVN8|Q6ZVN8]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=HFE2&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20HFE2|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/608374|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  The product of this gene is involved in iron metabolism. It may be a component of the signaling pathway which activates hepcidin or it may act as a modulator of hepcidin expression. It could also represent the cellular receptor for hepcidin. Two uORFs in the 5' UTR negatively regulate the expression and activity of the encoded protein. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. Defects in this gene are the cause of hemochromatosis type 2A, also called juvenile hemochromatosis (JH). JH is an early-onset autosomal recessive disorder due to severe iron overload resulting in hypogonadotrophic hypogonadism, hepatic fibrosis or cirrhosis and cardiomyopathy, occurring typically before age of 30. [provided by RefSeq, Oct 2015]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Acts as a bone morphogenetic protein (BMP) coreceptor. Through enhancement of BMP signaling regulates hepcidin (HAMP) expression and regulates iron homeostasis. {ECO:0000250|UniProtKB:Q7TQ32}.

<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'>
|RGM N|
|RGM C|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|BMP receptor complex|
|BMP receptor activity|
|transferrin receptor binding|
|HFE-transferrin receptor complex|
|plasma membrane protein complex|
|BMP binding|
|protein autoprocessing|
|activin receptor signaling pathway|
|coreceptor activity|
|negative regulation of BMP signaling pathway|
|cellular iron ion homeostasis|
|iron ion homeostasis|
|regulation of BMP signaling pathway|
|BMP signaling pathway|
|anchored component of membrane|
|response to BMP|
|cellular response to BMP stimulus|
|cellular transition metal ion homeostasis|
|negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway|
|transition metal ion homeostasis|
|negative regulation of cellular response to growth factor stimulus|
|protein processing|
|transmembrane receptor protein serine/threonine kinase signaling pathway|
|protein maturation|
|regulation of transmembrane receptor protein serine/threonine kinase signaling pathway|
|regulation of cellular response to growth factor stimulus|
|signaling receptor binding|
|cellular response to growth factor stimulus|
|response to growth factor|
|cellular metal ion homeostasis|
|cell surface|
|metal ion homeostasis|
|cellular cation homeostasis|
|cellular ion homeostasis|
|cation homeostasis|
|enzyme linked receptor protein signaling pathway|
|inorganic ion homeostasis|
|cellular chemical homeostasis|
|ion homeostasis|
|negative regulation of transcription by RNA polymerase II|
|cellular homeostasis|
|chemical homeostasis|
|negative regulation of transcription, DNA-templated|
|positive regulation of transcription by RNA polymerase II|
|cellular response to endogenous stimulus|
|negative regulation of nucleic acid-templated transcription|
|negative regulation of RNA biosynthetic process|
|negative regulation of signal transduction|
|proteolysis|
|negative regulation of RNA metabolic process|
|negative regulation of cell communication|
|negative regulation of signaling|
|negative regulation of cellular macromolecule biosynthetic process|
|negative regulation of nucleobase-containing compound metabolic process|
|negative regulation of macromolecule biosynthetic process|
|response to endogenous stimulus|
|negative regulation of cellular biosynthetic process|
|positive regulation of transcription, DNA-templated|
|negative regulation of biosynthetic process|
|extracellular space|
|negative regulation of response to stimulus|
|positive regulation of nucleic acid-templated transcription|
|positive regulation of RNA biosynthetic process|
|homeostatic process|
|negative regulation of gene expression|
|positive regulation of RNA metabolic process|
|positive regulation of nucleobase-containing compound metabolic process|
|positive regulation of macromolecule biosynthetic process|
|positive regulation of cellular biosynthetic process|
|positive regulation of gene expression|
|gene expression|
|positive regulation of biosynthetic process|
</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:exp495|IWR1 50μM R08 exp495]]|1.89|
|[[:results:exp210|LB-100 2μM R05 exp210]]|2.43|
</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>**: 3956
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: -5.01 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='HFE2 Expression in NALM6 Cells: -5.01'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>