C-It-Loci: A knowledge database for tissue-enriched loci.

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: oculocutaneous albinism II
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000104044 OCA2 9606 - 15:27754875-28099358 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000353809 OCA2-002 27754875-28099312 protein_coding
  ENST00000354638 OCA2-001 27754875-28099358 protein_coding
  ENST00000431101 OCA2-003 28018412-28099293 protein_coding
  ENST00000445578 OCA2-004 28016104-28099296 protein_coding

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdrenalBladderBrainBreastColonHeartLiverLungOvaryPlacentaTestisENST00000353809ENST00000354638ENST00000431101ENST00000445578
Transcript ID Adrenal Bladder Brain Breast Colon Heart Liver Lung Ovary Placenta Testis
ENST00000353809 0.308±0.00 N/A 0.389±0.00 0.048±0.02 N/A 0.025±0.00 0.083±0.00 0.198±0.00 N/A 0.620±0.00 0.915±0.10
ENST00000354638 0.194±0.00 N/A 0.749±0.41 N/A N/A N/A N/A 0.315±0.00 0.262±0.03 1.339±0.79 1.432±0.44
ENST00000431101 N/A 0.219±0.00 0.579±0.00 N/A 0.361±0.00 N/A N/A N/A N/A N/A N/A
ENST00000445578 N/A N/A N/A 0.039±0.00 N/A N/A N/A N/A N/A N/A N/A

Conserved Regions

Gene is not located within a conserved region.

Gene Ontology
GO IDEvidence TypeGO Description
GO:0005215 TAS:IEA transporter activity
GO:0005302 TAS L-tyrosine transmembrane transporter activity
GO:0005515 IPI protein binding
GO:0005737 TAS cytoplasm
GO:0005765 IDA lysosomal membrane
GO:0005789 IDA endoplasmic reticulum membrane
GO:0006726 TAS eye pigment biosynthetic process
GO:0006814 IEA sodium ion transport
GO:0007286 IEA spermatid development
GO:0008283 IEA cell proliferation
GO:0010008 IDA endosome membrane
GO:0015105 IEA arsenite transmembrane transporter activity
GO:0015700 IEA arsenite transport
GO:0015828 TAS tyrosine transport
GO:0016020 IEA membrane
GO:0016021 IEA integral component of membrane
GO:0030318 IEA melanocyte differentiation
GO:0033162 IDA melanosome membrane
GO:0042438 IEA melanin biosynthetic process
GO:0043473 IEA pigmentation
GO:0048066 IEA developmental pigmentation
GO:0055085 IEA transmembrane transport

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000061303 oca2 oculocutaneous albinism II protein_coding Danio_rerio
ENSMUSG00000030450 Oca2 oculocutaneous albinism II protein_coding Mus_musculus

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