Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol HFE contributors: mct - updated : 24-10-2011
HGNC name hemochromatosis
HGNC id 4886
DNA
TYPE functioning gene
SPECIAL FEATURE gene in gene, antisens
text HFE antisense RNA partially covers HFE mRNA
STRUCTURE 7.96 kb     6 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
RNA
TRANSCRIPTS type messenger
text likely several other transcripts
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
6 splicing 2222 40.11 348 - 2001 11532995
  • containing exon 2a (longer than 2b)
  • containing exon 3a (longer than 3b)
  • containing exon 4a (longer than 4b & 4c)
  • containing exon 6a (longer than 6b)
  • laking exon 7
  • encoding for the longest product
    • 4 splicing 878 18.52 161 - 2001 11532995
  • containing exon 2a (longer than 2b)
  • containing exon 3b (shorter than 3a)
  • containing exon 7b (shorter than 7a)
  • laking exons 4, 5 & 6
    • 5 splicing 1904 27.58 242 - 2001 11532995
  • containing exon 2a (longer than 2b)
  • containing exon 4b
  • containing exon 6a (longer than 6b)
  • laking exons 3 & 7
    • 5 splicing 1946 29.06 256 - 2001 11532995
  • containing exon 2a (longer than 2b)
  • containing exon 4a (longer than 4b & 4c)
  • containing exon 6a (longer than 6b)
  • laking exons 3 & 7
    • 5 splicing 1417 32.05 276 - 2001 11532995
  • containing exon 2a (longer than 2b)
  • containing exon 3a (longer than 3b)
  • containing exon 4c (shorter than 4a & 4b)
  • containing exon 7a (longer than 7b)
  • laking exons 5 & 6
    • 6 splicing 2180 38.49 334 - 2001 11532995
  • containing exon 2a (longer than 2b)
  • containing exon 3a (longer than 3b)
  • containing exon 4b
  • containing exon 6b (shorter than 6a)
  • laking exon 7
    • 5 splicing 1958 29.5 260 - 2001 11532995
  • containing exon 3a (longer than 3b)
  • containing exon 4a (longer than 4b & 4c)
  • containing exon 6a (longer than 6b)
  • laking exons 2 & 7
    • 5 splicing 1916 28.02 246 - 2001 11532995
  • a 5 exons variant
  • containing exon 3a (longer than 3b)
  • containing exon 4b
  • containing exon 6a (longer than 6b)
  • laking exons 2 & 7
    • 6 splicing 2153 37.38 325 - 2001 11532995
  • containing exon 2b (shorter than 2a)
  • containing exon 3a (longer than 3b)
  • containing exon 4a (longer than 4b & 4c)
  • containing exon 6a (longer than 6b)
  • laking exon 7
    • 4 splicing 1682 18.6 168 - 2001 11532995
  • a 4 exons variant
  • containing exon 4a (longer than 4b & 4c)
  • containing exon 6a (longer than 6b)
  • laking exons 2, 3 & 7
    • 3 splicing 1406 8.08 76 - 2001 11532995
  • containing exon 6a (longer than 6b)
  • laking exons 2, 3, 4, & 7
  • encoding for the shortest product
    		•
    EXPRESSION
    Type widely
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestineduodenum moderately
    Endocrineadrenal gland   highly
    Lymphoid/Immunespleen   predominantly
    Nervousbrain   moderately
    Reproductivefemale systembreastmammary gland highly
     female systemuteruscervix moderately
     male systemprostate  highly
     male systemtestis  lowly
    Respiratorylung   moderately
    Skin/Tegumentskin   lowly
    Urinarybladder   highly
     kidney   highly
    Visualeye   moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoietic   highly
    Connective   moderately
    Epithelialbarrier liningretinal pigment epithelium (RPE) moderately
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Digestiveenterocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • an immunoglobulin-like C1-type domain
  • a class I histocompatibility antigen domain
    • HOMOLOGY
    interspecies homolog to murine Hfe (69.36 pc)
    homolog to rattus Hfe (69.25 pc)
    Homologene
    FAMILY MHC class I family
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane
    text associated with TFRC in crypt cells
    basic FUNCTION
  • soluble form (regulating cellular iron transport) and a non soluble form (involved in iron deficiency)
  • influencing serum transferrin saturation in heterozygotes C282Y or H63D
  • influences the functional properties of TFR2, suggesting a model in which the interaction of these proteins might influence signal transduction to hepcidin)
  • TFR2/HFE complex is required for transcriptional regulation of hepcidin by holo-TF
  • both HFE and TFR2 are necessary for regulation of hepcidin (HAMP) expression
  • TFR2 and HFE are involved in holotransferrin-dependent signaling for the regulation of FURIN which involved Erk phosphorylation
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism metal
    signaling
    iron
    a component
  • negative modulator of the uptake of transferrin-bound iron from plasma
  • complexing with beta 2 microglobulin and transferrin receptor (TFRC)
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • transferrin receptor (TFRC)
    • cell & other
    REGULATION
    inhibited by HFE protein expression is negatively regulated by the antisense transcript in vitro
    ASSOCIATED DISORDERS
    corresponding disease(s) HFE , VGP
    Susceptibility
    Variant & Polymorphism SNP
  • HFE C282Y and H63D polymorphism inducing a variation in iron status: serum transferin saturation is more affected than is serum ferritin.
    • Candidate gene for amyotrophic lateral sclerosis
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • knock-out Hfe -/- mice
  • iron overload due to deletion of Tfr2 in mice is more severe than that due to Hfe, and loss of both molecules results in pronounced iron overload