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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Transcript Info
Description: oculocutaneous albinism II
Transcript Accession Transcript Name Contained in Gene Tax ID Strand Position Biotype
ENST00000354638 OCA2-001 ENSG00000104044 9606 - 15:27754875-28099358 protein_coding

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdrenalBrainLungOvaryPlacentaTestisENST00000354638
Transcript ID Adrenal Brain Lung Ovary Placenta Testis
ENST00000354638 0.194±0.00 0.749±0.41 0.315±0.00 0.262±0.03 1.339±0.79 1.432±0.44

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 Biotype Species E-Value Bit Score
ENSMUST00000032633 Oca2-001 protein_coding Mus_musculus 0 1982
ENSMUST00000144739 Oca2-004 nonsense_mediated_decay Mus_musculus 0 1965
ENSMUST00000152693 Oca2-002 nonsense_mediated_decay Mus_musculus 0 1624
ENSMUST00000154559 Oca2-006 processed_transcript Mus_musculus 0 302

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