OCA2 [The Human Chemical-Genetic Interaction Map Project]

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======= OCA2 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: OCA2
  * **<color #00a2e8>Official Name</color>**: OCA2 melanosomal transmembrane protein
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=4948|4948]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q04671|Q04671]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=OCA2&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20OCA2|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/611409|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes the human homolog of the mouse p (pink-eyed dilution) gene. The encoded protein is believed to be an integral membrane protein involved in small molecule transport, specifically tyrosine, which is a precursor to melanin synthesis. It is involved in mammalian pigmentation, where it may control skin color variation and act as a determinant of brown or blue eye color. Mutations in this gene result in type 2 oculocutaneous albinism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Could be involved in the transport of tyrosine, the precursor to melanin synthesis, within the melanocyte. Regulates the pH of melanosome and the melanosome maturation. One of the components of the mammalian pigmentary system. Seems to regulate the post-translational processing of tyrosinase, which catalyzes the limiting reaction in melanin synthesis. May serve as a key control point at which ethnic skin color variation is determined. Major determinant of brown and/or blue eye color. {ECO:0000269|PubMed:11310796, ECO:0000269|PubMed:15262401, ECO:0000269|PubMed:18252222, ECO:0000269|PubMed:22234890, ECO:0000269|PubMed:7601462}.

<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'>
|ArsB|
|CitMHS|
|Na sulph symp|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|tyrosine transport|
|L-tyrosine transmembrane transporter activity|
|pigment metabolic process involved in developmental pigmentation|
|pigment metabolic process involved in pigmentation|
|eye pigment metabolic process|
|eye pigment biosynthetic process|
|eye pigmentation|
|aromatic amino acid transport|
|melanin biosynthetic process|
|melanosome membrane|
|melanin metabolic process|
|secondary metabolite biosynthetic process|
|melanocyte differentiation|
|pigment cell differentiation|
|phenol-containing compound biosynthetic process|
|developmental pigmentation|
|transporter activity|
|pigment biosynthetic process|
|secondary metabolic process|
|pigment metabolic process|
|phenol-containing compound metabolic process|
|pigmentation|
|amino acid transport|
|spermatid development|
|spermatid differentiation|
|organic hydroxy compound biosynthetic process|
|endosome membrane|
|germ cell development|
|carboxylic acid transport|
|organic acid transport|
|lysosomal membrane|
|cellular process involved in reproduction in multicellular organism|
|organic hydroxy compound metabolic process|
|organic anion transport|
|spermatogenesis|
|cell population proliferation|
|male gamete generation|
|anion transport|
|developmental process involved in reproduction|
|gamete generation|
|multicellular organismal reproductive process|
|cation transport|
|sexual reproduction|
|multicellular organism reproduction|
|endoplasmic reticulum membrane|
|multi-organism reproductive process|
|aromatic compound biosynthetic process|
|transmembrane transport|
|organic cyclic compound biosynthetic process|
|ion transport|
|reproductive process|
|reproduction|
|cell development|
|nitrogen compound transport|
</modal>
\\

 === CRISPR Data ===
<button type='default' 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'>
No hits were found.
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:h:hgc6.3|HGC6.3]]|0.465|
</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>**: 3871
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: -3.28 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='OCA2 Expression in NALM6 Cells: -3.28'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>