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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: hemochromatosis
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000010704 HFE 9606 + 6:26087281-26098343 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000309234 HFE-019 26087439-26094553 protein_coding
  ENST00000317896 HFE-006 26087281-26095217 protein_coding
  ENST00000336625 HFE-012 26087397-26094257 protein_coding
  ENST00000349999 HFE-004 26087281-26094987 protein_coding
  ENST00000352392 HFE-003 26087281-26094488 protein_coding
  ENST00000353147 HFE-007 26087281-26094368 protein_coding
  ENST00000357618 HFE-001 26087319-26098343 protein_coding
  ENST00000397022 HFE-005 26087281-26094368 protein_coding
  ENST00000461397 HFE-014 26087405-26094230 protein_coding
  ENST00000470149 HFE-011 26087392-26094262 protein_coding
  ENST00000483782 HFE-017 26087319-26092982 retained_intron
  ENST00000485729 HFE-024 26092948-26095020 protein_coding
  ENST00000486147 HFE-013 26087398-26094257 retained_intron
  ENST00000488199 HFE-015 26087405-26094230 protein_coding

Homo sapiens EnsemblGRCh38

Genome
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Genes
Gene structures from Ensembl
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Transcripts
Structures from Ensembl
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Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENST00000309234ENST00000317896ENST00000336625ENST00000349999ENST00000352392ENST00000357618ENST00000397022ENST00000461397ENST00000470149ENST00000483782ENST00000485729ENST00000488199
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENST00000309234 N/A N/A 0.396±0.00 0.121±0.00 N/A N/A N/A 1.096±0.00 N/A 1.523±0.00 N/A 3.678±0.00 1.644±0.28 1.313±0.00
ENST00000317896 1.143±0.00 0.931±0.00 N/A 0.289±0.00 0.305±0.00 0.445±0.00 N/A 0.843±0.00 1.680±0.00 0.300±0.00 N/A 2.363±0.00 1.450±0.25 0.930±0.00
ENST00000336625 N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A 0.235±0.00 N/A N/A N/A
ENST00000349999 1.002±0.00 N/A N/A 0.273±0.00 N/A 0.991±0.00 N/A N/A 1.806±0.00 N/A N/A N/A 1.963±0.00 N/A
ENST00000352392 N/A N/A N/A 1.160±0.00 N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A
ENST00000357618 N/A 0.294±0.00 0.126±0.00 0.107±0.07 1.514±0.00 N/A N/A 0.459±0.32 N/A 0.185±0.00 0.029±0.00 0.855±0.09 0.816±0.14 0.365±0.00
ENST00000397022 N/A N/A 0.221±0.00 N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A
ENST00000461397 N/A N/A N/A N/A 1.185±0.00 N/A N/A N/A N/A 0.718±0.00 N/A N/A 2.770±0.00 N/A
ENST00000470149 N/A N/A N/A N/A N/A 1.616±0.00 N/A 0.684±0.00 1.804±0.00 N/A N/A N/A N/A N/A
ENST00000483782 N/A N/A N/A N/A N/A 0.488±0.00 N/A N/A N/A N/A N/A N/A N/A N/A
ENST00000485729 N/A N/A 1.102±0.00 0.703±0.00 3.407±0.00 N/A 1.119±0.00 1.560±0.00 N/A 1.008±0.00 N/A 2.768±0.66 N/A 1.597±0.00
ENST00000488199 N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A 0.337±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:0001916 IEA positive regulation of T cell mediated cytotoxicity
GO:0002474 IEA antigen processing and presentation of peptide antigen via MHC class I
GO:0005102 IPI receptor binding
GO:0005515 IEA protein binding
GO:0005769 IDA early endosome
GO:0005886 TAS plasma membrane
GO:0005887 TAS integral component of plasma membrane
GO:0006461 TAS protein complex assembly
GO:0006879 TAS cellular iron ion homeostasis
GO:0006955 IEA immune response
GO:0007565 IEA female pregnancy
GO:0010106 IEA cellular response to iron ion starvation
GO:0016021 IEA integral component of membrane
GO:0019882 IEA antigen processing and presentation
GO:0031410 IDA cytoplasmic vesicle
GO:0042446 IEA hormone biosynthetic process
GO:0042605 IEA peptide antigen binding
GO:0042612 IEA MHC class I protein complex
GO:0045177 IDA apical part of cell
GO:0045178 IDA basal part of cell
GO:0048471 IDA perinuclear region of cytoplasm
GO:0055037 IDA recycling endosome
GO:0055072 IEA iron ion homeostasis
GO:0060586 IEA multicellular organismal iron ion homeostasis
GO:0097459 IDA iron ion import into cell

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSMUSG00000006611 Hfe hemochromatosis protein_coding Mus_musculus

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