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
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000100099 HPS4 9606 - 22:26443423-26483837 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000336873 HPS4-006 26452083-26483795 protein_coding
  ENST00000398145 HPS4-005 26451480-26483812 protein_coding
  ENST00000402105 HPS4-008 26452083-26479681 protein_coding
  ENST00000422379 HPS4-022 26464239-26483783 protein_coding
  ENST00000429411 HPS4-010 26452083-26479448 nonsense_mediated_decay
  ENST00000439453 HPS4-002 26452083-26483836 nonsense_mediated_decay
  ENST00000459918 HPS4-017 26465521-26477011 processed_transcript
  ENST00000464362 HPS4-011 26452083-26479546 nonsense_mediated_decay
  ENST00000466781 HPS4-004 26452083-26483837 retained_intron
  ENST00000473782 HPS4-013 26481858-26483828 processed_transcript
  ENST00000479064 HPS4-012 26481835-26483836 processed_transcript
  ENST00000481910 HPS4-009 26475370-26479411 retained_intron
  ENST00000483631 HPS4-014 26476991-26483836 processed_transcript
  ENST00000485842 HPS4-016 26453646-26472950 retained_intron
  ENST00000491142 HPS4-019 26451480-26452892 processed_transcript
  ENST00000493455 HPS4-021 26444227-26464192 processed_transcript
  ENST00000496385 HPS4-003 26453112-26479488 retained_intron
  ENST00000519774 HPS4-024 26443423-26464015 processed_transcript

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENST00000336873ENST00000398145ENST00000422379ENST00000429411ENST00000439453ENST00000464362ENST00000466781ENST00000473782ENST00000483631
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENST00000336873 2.765±0.00 3.437±0.00 N/A 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
ENST00000398145 N/A N/A N/A N/A 1.053±0.00 N/A N/A 0.833±0.00 N/A N/A 0.311±0.00 1.126±0.00 0.614±0.00 N/A
ENST00000422379 N/A N/A N/A 2.220±0.00 N/A N/A N/A 1.743±0.00 1.730±0.00 3.068±0.00 N/A N/A N/A N/A
ENST00000429411 N/A 2.325±0.00 N/A N/A N/A 0.782±0.00 N/A 1.162±0.00 0.842±0.00 N/A 0.453±0.00 3.244±0.00 1.204±0.00 N/A
ENST00000439453 N/A N/A N/A 1.060±0.00 0.965±0.00 0.630±0.00 0.737±0.00 N/A 0.808±0.00 N/A N/A N/A N/A N/A
ENST00000464362 N/A N/A N/A N/A 1.060±0.00 0.865±0.00 N/A N/A N/A N/A N/A 2.617±0.08 0.633±0.00 N/A
ENST00000466781 0.673±0.00 2.363±0.00 1.783±0.00 1.098±0.69 0.680±0.00 N/A N/A 0.137±0.00 N/A 1.119±0.67 N/A 3.342±0.00 N/A 6.206±0.00
ENST00000473782 N/A N/A N/A N/A N/A N/A N/A 1.819±0.00 N/A N/A N/A N/A N/A N/A
ENST00000483631 N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A 0.749±0.00 N/A N/A N/A

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:0006996 IEA organelle organization
GO:0007040 IDA lysosome organization
GO:0007596 IEA blood coagulation
GO:0007599 TAS hemostasis
GO:0016020 IDA membrane
GO:0016023 IEA cytoplasmic membrane-bounded vesicle
GO:0030318 IEA melanocyte differentiation
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 Description Biotype Species
ENSDARG00000013795 hps4 Hermansky-Pudlak syndrome 4 protein_coding Danio_rerio
ENSMUSG00000042328 Hps4 Hermansky-Pudlak syndrome 4 homolog (human) protein_coding Mus_musculus

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