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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: oculocerebrorenal syndrome of Lowe
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSDARG00000078106 ocrl 7955 + 14:34925850-34955020 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENSDART00000112268 ocrl-202 34925850-34955020 protein_coding

Expression Patterns

Heat Map
Numeric Values
Transcript'; BrainHeartKidneyLiverMuscleENSDART00000112268
Transcript ID Brain Heart Kidney Liver Muscle
ENSDART00000112268 0.341±0.22 0.246±0.01 0.259±0.07 0.123±0.00 0.089±0.00

Conserved Regions

Gene is not located within a conserved region.

Gene Ontology

GO IDEvidence TypeGO Description
GO:0001755 IMP neural crest cell migration
GO:0003341 IMP cilium movement
GO:0004439 IMP phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity
GO:0005622 IEA intracellular
GO:0007165 IEA signal transduction
GO:0007420 IMP brain development
GO:0009790 IMP embryo development
GO:0032402 IMP melanosome transport
GO:0043473 IMP pigmentation
GO:0046856 IEA phosphatidylinositol dephosphorylation
GO:0048701 IMP embryonic cranial skeleton morphogenesis
GO:0048884 IMP neuromast development
GO:0060271 IMP cilium morphogenesis
GO:0071871 IMP response to epinephrine
GO:0097205 IMP renal filtration

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSG00000122126 OCRL oculocerebrorenal syndrome of Lowe protein_coding Homo_sapiens
ENSMUSG00000001173 Ocrl oculocerebrorenal syndrome of Lowe protein_coding Mus_musculus

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