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
Corresponding disease
HFE hemochromatosis
VGP porphyria variegata
Location 6p21.3      Physical location : 26.087.508 - 26.095.469
Synonym symbol(s) HLA-H, HH, HFE1
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
Physical map
SLC17A2 6p21.3 solute carrier family 17 (sodium phosphate), member 2 TRIM38 6p21.3 tripartite motif-containing 38 HIST1H1PS2 6p21.3 histone 1, H1, pseudogene 2 HIST1H1A 6p22-p21 histone 1, H1a HIST1H3A 6p21.3 histone 1, H3a HIST1H4A 6p21.3 histone 1, H4a HIST1H4B 6p21.3 histone 1, H4b HIST1H3B 6p21.3 histone 1, H3b HIST1H2AB 6p21.3 histone 1, H2ab HIST1H2BB 6p21.3 histone 1, H2bb HIST1H2APS5 6p21.3 histone 1, H2a, pseudogene 5 HIST1H3C 6p21.3 histone 1, H3c HIST1H1C 6p21.3 histone 1, H1c HFE 6p21.3 hemochromatosis
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