======= ABCB6 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: ABCB6
  * **<color #00a2e8>Official Name</color>**: ATP binding cassette subfamily B member 6 (Langereis blood group)
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=10058|10058]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q9NP58|Q9NP58]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=ABCB6&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20ABCB6|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/605452|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. ABC proteins transport various molecules across extra- and intra-cellular membranes. This protein is a member of the heavy metal importer subfamily and plays a role in porphyrin transport. This gene is the molecular basis of the Langereis (Lan) blood group antigen and mutations in this gene underlie familial pseudohyperkalemia and dyschromatosis universalis hereditaria. [provided by RefSeq, Mar 2017]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Binds heme and porphyrins and functions in their ATP- dependent uptake into the mitochondria. Plays a crucial role in heme synthesis. {ECO:0000269|PubMed:10837493, ECO:0000269|PubMed:17006453}.

<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'>
|ABC membrane|
|SMC N|
|ABC tran|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|heme transmembrane transport|
|ATPase-coupled heme transmembrane transporter activity|
|efflux transmembrane transporter activity|
|ATP-binding cassette (ABC) transporter complex|
|mitochondrial envelope|
|heme transport|
|iron coordination entity transport|
|iron ion transmembrane transport|
|integral component of mitochondrial outer membrane|
|porphyrin-containing compound biosynthetic process|
|vacuolar membrane|
|tetrapyrrole biosynthetic process|
|porphyrin-containing compound metabolic process|
|cofactor transport|
|ATPase-coupled transmembrane transporter activity|
|tetrapyrrole metabolic process|
|cellular iron ion homeostasis|
|iron ion transport|
|iron ion homeostasis|
|cellular transition metal ion homeostasis|
|transition metal ion transport|
|transition metal ion homeostasis|
|heme binding|
|mitochondrial outer membrane|
|cofactor biosynthetic process|
|endosome membrane|
|ATPase activity|
|endosome|
|skin development|
|cofactor metabolic process|
|cellular metal ion homeostasis|
|inorganic cation transmembrane transport|
|cation transmembrane transport|
|Golgi membrane|
|metal ion homeostasis|
|cellular cation homeostasis|
|metal ion transport|
|cellular ion homeostasis|
|inorganic ion transmembrane transport|
|cation homeostasis|
|inorganic ion homeostasis|
|brain development|
|cellular chemical homeostasis|
|head development|
|ion homeostasis|
|cation transport|
|cellular homeostasis|
|endoplasmic reticulum membrane|
|ion transmembrane transport|
|central nervous system development|
|Golgi apparatus|
|endoplasmic reticulum|
|chemical homeostasis|
|heterocycle biosynthetic process|
|aromatic compound biosynthetic process|
|mitochondrion|
|transmembrane transport|
|organic cyclic compound biosynthetic process|
|ion transport|
|organonitrogen compound biosynthetic process|
|ATP binding|
|cellular nitrogen compound biosynthetic process|
|homeostatic process|
|nitrogen compound transport|
</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:exp310|2-Methoxyestradiol 0.55μM R07 exp310]]|1.7|
|[[:results:exp375|Lenalidomide 20μM R07 exp375]]|1.93|
</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: 1/739
^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|1/17|
|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>**: 16975
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 4.14 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='ABCB6 Expression in NALM6 Cells: 4.14'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>