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
ENSMUSG00000030450 Oca2 10090 + 7:56239760-56536517 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENSMUST00000032633 Oca2-001 56239760-56536517 protein_coding
  ENSMUST00000144739 Oca2-004 56239808-56536513 nonsense_mediated_decay
  ENSMUST00000152693 Oca2-002 56239777-56536265 nonsense_mediated_decay
  ENSMUST00000154559 Oca2-006 56306238-56323632 processed_transcript
  ENSMUST00000155533 Oca2-003 56239761-56254966 processed_transcript
  ENSMUST00000156886 Oca2-005 56239781-56280796 protein_coding

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdrenalBladderBrainBreastHeartKidneyLiverOvaryPlacentaTestisENSMUST00000032633ENSMUST00000144739ENSMUST00000152693ENSMUST00000156886
Transcript ID Adrenal Bladder Brain Breast Heart Kidney Liver Ovary Placenta Testis
ENSMUST00000032633 2.600±0.49 N/A 0.091±0.04 N/A N/A N/A N/A 2.633±1.71 0.015±0.00 0.135±0.08
ENSMUST00000144739 N/A N/A 0.024±0.00 N/A N/A N/A N/A N/A N/A N/A
ENSMUST00000152693 N/A 0.006±0.00 0.112±0.04 0.032±0.00 0.011±0.00 0.024±0.00 N/A 1.669±0.99 0.002±0.00 0.177±0.03
ENSMUST00000156886 1.908±0.51 N/A N/A N/A N/A N/A 0.223±0.00 4.089±0.49 N/A N/A

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_0006LG CIL_0006LG_0002 CGP 7:56050155-56536517

Gene Ontology
GO IDEvidence TypeGO Description
GO:0005515 IEA protein binding
GO:0005765 IEA lysosomal membrane
GO:0005789 IEA endoplasmic reticulum membrane
GO:0007286 IMP spermatid development
GO:0008283 IMP cell proliferation
GO:0010008 IEA endosome membrane
GO:0016021 IEA integral component of membrane
GO:0030318 IMP melanocyte differentiation
GO:0033162 IEA melanosome membrane
GO:0042438 IMP melanin biosynthetic process
GO:0043473 IMP pigmentation
GO:0048066 IMP developmental pigmentation
GO:0055085 IEA transmembrane transport

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000061303 oca2 oculocutaneous albinism II protein_coding Danio_rerio
ENSG00000104044 OCA2 oculocutaneous albinism II protein_coding Homo_sapiens

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