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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: Hermansky-Pudlak syndrome 4 homolog (human)
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSMUSG00000042328 Hps4 10090 + 5:112343083-112378414 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENSMUST00000035279 Hps4-001 112343095-112378414 protein_coding
  ENSMUST00000112359 Hps4-003 112343083-112378414 protein_coding
  ENSMUST00000129839 Hps4-004 112368745-112369774 retained_intron
  ENSMUST00000133708 Hps4-002 112343095-112378414 retained_intron
  ENSMUST00000175718 Hps4-006 112343100-112344887 processed_transcript
  ENSMUST00000176737 Hps4-007 112343093-112344747 processed_transcript
  ENSMUST00000177121 Hps4-005 112375335-112378401 retained_intron

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENSMUST00000035279ENSMUST00000112359ENSMUST00000133708ENSMUST00000175718ENSMUST00000176737
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENSMUST00000035279 3.219±0.68 4.382±1.42 2.137±0.03 4.862±2.38 6.221±1.23 7.081±2.23 1.413±0.62 5.600±1.05 2.899±0.65 2.911±1.44 0.599±0.28 6.388±2.19 3.064±1.53 7.151±2.94
ENSMUST00000112359 1.978±0.73 2.719±0.65 2.416±0.23 4.697±1.71 1.341±0.15 2.010±0.00 0.970±0.42 2.073±0.14 1.199±0.33 1.757±0.31 0.705±0.16 2.628±0.69 1.849±0.93 10.505±0.92
ENSMUST00000133708 3.700±1.04 6.120±1.51 2.153±0.50 5.480±0.37 4.470±0.85 6.108±1.95 0.709±0.30 2.419±0.64 1.243±0.42 2.925±0.39 0.477±0.17 3.704±1.80 1.275±0.36 N/A
ENSMUST00000175718 N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A 2.587±0.00
ENSMUST00000176737 N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A 3.504±0.20 0.778±0.00 2.661±0.00

Conserved Regions

Gene is not located within a conserved region.

Gene Ontology
GO IDEvidence TypeGO Description
GO:0005515 IEA protein binding
GO:0005737 ISS cytoplasm
GO:0005764 ISS lysosome
GO:0006605 ISS protein targeting
GO:0006996 IMP organelle organization
GO:0007040 ISS lysosome organization
GO:0007596 IMP blood coagulation
GO:0016020 ISS membrane
GO:0016023 IDA cytoplasmic membrane-bounded vesicle
GO:0030318 IMP melanocyte differentiation
GO:0031085 IEA BLOC-3 complex
GO:0042470 ISS melanosome
GO:0042803 ISS protein homodimerization activity
GO:0042827 IEA platelet dense granule
GO:0046983 ISS protein dimerization activity
GO:0050821 ISS protein stabilization

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000013795 hps4 Hermansky-Pudlak syndrome 4 protein_coding Danio_rerio
ENSG00000100099 HPS4 Hermansky-Pudlak syndrome 4 protein_coding Homo_sapiens

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