Cell atlas - OCA2 - The Human Protein Atlas

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OCA2

TISSUE

CELL

PATHOLOGY

CELL ATLAS RNA EXPRESSION

GENE/PROTEIN

Dictionary

Human cell

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GENERAL INFORMATION
Gene name	OCA2
Gene description	Oculocutaneous albinism II
Protein class	Disease related genes Potential drug targets Predicted membrane proteins Transporters
Predicted localization	Membrane
Number of transcripts	4
	SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION
Summary
RNA cell category	Group enriched (SK-MEL-30, SH-SY5Y)
Protein evidence	Evidence at protein level
Main location	Not available

DATA RELIABILITY
Reliability score	Pending cell analysis.

ASSAYS

RNA EXPRESSION OVERVIEW
RNA cell line category: Group enriched (SK-MEL-30, SH-SY5Y) Organ Origin Category Expression Alphabetical Cell lines sorted after organ of phenotypic resemblance. Cell lines sorted after biological source for establishment. Cell lines sorted after the cell line category according to Cellosaurus. Cell lines sorted on descending RNA expression. Cell lines sorted alphabetically.

GENE INFORMATION
Gene name	OCA2 (HGNC Symbol)
Synonyms	BEY, BEY1, BEY2, D15S12, EYCL, EYCL2, EYCL3, P
Description	Oculocutaneous albinism II (HGNC Symbol)
Entrez gene summary	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]
Chromosome	15
Cytoband
Chromosome location (bp)	27754875 - 28099358
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000104044 (version 83.38)
Entrez gene	4948
UniProt	Q04671 (UniProt - Evidence at protein level)
neXtProt	NX_Q04671
Antibodypedia	OCA2 antibodies

PROTEIN BROWSER

OCA2-001	OCA2-002	OCA2-003	OCA2-004

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
OCA2-001 ENSP00000346659 ENST00000354638	Q04671 [Direct mapping] P protein Show all	Transporters Electrochemical Potential-driven transporters Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based >9TM proteins predicted by MDM Disease related genes Potential drug targets Protein evidence (Ezkurdia et al 2014) Show all	GO:0005215 [transporter activity] GO:0005302 [L-tyrosine transmembrane transporter activity] GO:0005515 [protein binding] GO:0005737 [cytoplasm] GO:0005765 [lysosomal membrane] GO:0005789 [endoplasmic reticulum membrane] GO:0006726 [eye pigment biosynthetic process] GO:0007286 [spermatid development] GO:0008283 [cell proliferation] GO:0010008 [endosome membrane] GO:0015828 [tyrosine transport] GO:0016021 [integral component of membrane] GO:0030318 [melanocyte differentiation] GO:0033162 [melanosome membrane] GO:0042438 [melanin biosynthetic process] GO:0043473 [pigmentation] GO:0048066 [developmental pigmentation] GO:0055085 [transmembrane transport] GO:0098656 [anion transmembrane transport] Show all	838 aa 92.8 kDa	No	>9
OCA2-002 ENSP00000261276 ENST00000353809	Q04671 [Direct mapping] P protein Show all	Transporters Electrochemical Potential-driven transporters Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based >9TM proteins predicted by MDM Disease related genes Potential drug targets Protein evidence (Ezkurdia et al 2014) Show all	GO:0005215 [transporter activity] GO:0005302 [L-tyrosine transmembrane transporter activity] GO:0005515 [protein binding] GO:0005737 [cytoplasm] GO:0005765 [lysosomal membrane] GO:0005789 [endoplasmic reticulum membrane] GO:0006726 [eye pigment biosynthetic process] GO:0010008 [endosome membrane] GO:0015828 [tyrosine transport] GO:0016021 [integral component of membrane] GO:0033162 [melanosome membrane] GO:0055085 [transmembrane transport] GO:0098656 [anion transmembrane transport] Show all	814 aa 90.5 kDa	No	>9
OCA2-003 ENSP00000415431 ENST00000431101	C9JDV3 [Direct mapping] P protein Show all	Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Protein evidence (Ezkurdia et al 2014) Show all	GO:0016021 [integral component of membrane] Show all	264 aa 28.8 kDa	No	1
OCA2-004 ENSP00000414425 ENST00000445578	C9JLG9 [Direct mapping] P protein Show all	Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Protein evidence (Ezkurdia et al 2014) Show all	GO:0016021 [integral component of membrane] Show all	218 aa 24.1 kDa	No	1

Contact

contact@proteinatlas.org

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.