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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Transcript Info
Description: Hermansky-Pudlak syndrome 4
Transcript Accession Transcript Name Contained in Gene Tax ID Strand Position Biotype
ENST00000336873 HPS4-006 ENSG00000100099 9606 - 22:26452083-26483795 protein_coding

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENST00000336873
Transcript ID Adipose Adrenal Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENST00000336873 2.765±0.00 3.437±0.00 2.776±2.01 3.397±0.00 1.495±0.00 0.682±0.00 2.768±0.00 1.310±0.00 2.287±0.00 1.218±0.00 5.466±2.54 3.115±1.17 12.684±2.84

Conserved Regions

Gene is not located within a conserved region.

Gene Ontology

GO IDEvidence TypeGO Description
GO:0005515 IPI protein binding
GO:0005737 IDA cytoplasm
GO:0005764 IDA lysosome
GO:0006605 IDA protein targeting
GO:0007040 IDA lysosome organization
GO:0007599 TAS hemostasis
GO:0016020 IDA membrane
GO:0031085 IPI BLOC-3 complex
GO:0042470 IDA melanosome
GO:0042803 IPI protein homodimerization activity
GO:0042827 IDA platelet dense granule
GO:0046983 IPI protein dimerization activity
GO:0048075 TAS positive regulation of eye pigmentation
GO:0050821 IPI protein stabilization

Homologs

ENSEMBL Accession Gene Name Biotype Species E-Value Bit Score
ENSMUST00000133708 Hps4-002 retained_intron Mus_musculus 0 496
ENSMUST00000035279 Hps4-001 protein_coding Mus_musculus 0 496
ENSMUST00000112359 Hps4-003 protein_coding Mus_musculus 0 496

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