EPB42 [The Human Chemical-Genetic Interaction Map Project]

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======= EPB42 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: EPB42
  * **<color #00a2e8>Official Name</color>**: erythrocyte membrane protein band 4.2
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=2038|2038]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P16452|P16452]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=EPB42&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20EPB42|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/177070|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  Erythrocyte membrane protein band 4.2 is an ATP-binding protein which may regulate the association of protein 3 with ankyrin. It probably has a role in erythrocyte shape and mechanical property regulation. Mutations in the EPB42 gene are associated with recessive spherocytic elliptocytosis and recessively transmitted hereditary hemolytic anemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Probably plays an important role in the regulation of erythrocyte shape and mechanical properties.

<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'>
|Transglut N|
|Transglut C|
|Transglut core|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|protein-glutamine gamma-glutamyltransferase activity|
|hemoglobin metabolic process|
|erythrocyte maturation|
|cortical cytoskeleton|
|erythrocyte development|
|spleen development|
|myeloid cell development|
|peptide cross-linking|
|erythrocyte differentiation|
|iron ion homeostasis|
|erythrocyte homeostasis|
|structural constituent of cytoskeleton|
|myeloid cell homeostasis|
|transition metal ion homeostasis|
|anatomical structure maturation|
|regulation of cell shape|
|cell maturation|
|homeostasis of number of cells|
|myeloid cell differentiation|
|developmental maturation|
|cytoskeleton|
|regulation of cell morphogenesis|
|hemopoiesis|
|hematopoietic or lymphoid organ development|
|metal ion homeostasis|
|immune system development|
|cation homeostasis|
|inorganic ion homeostasis|
|cell morphogenesis|
|ion homeostasis|
|cellular component morphogenesis|
|regulation of anatomical structure morphogenesis|
|cytoskeleton organization|
|chemical homeostasis|
|ATP binding|
|homeostatic process|
|cell development|
</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:exp405|Tenofovir 10μM R07 exp405]]|-1.88|
|[[:results:exp279|D-Fructose 10000μM R06 exp279]]|1.76|
</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>**: 5950
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 2.0 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='EPB42 Expression in NALM6 Cells: 2.0'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>