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Aliases for HFE Gene

Aliases for HFE Gene

  • Hemochromatosis 2 3 5
  • High Fe 2 3
  • HLA-H 3 4
  • Hereditary Hemochromatosis Protein HLA-H 3
  • Hereditary Hemochromatosis Protein 3
  • MHC Class I-Like Protein HFE 3
  • TFQTL2 3
  • MVCD7 3
  • HFE1 3
  • HLAH 4
  • HH 3

External Ids for HFE Gene

Previous GeneCards Identifiers for HFE Gene

  • GC06P026130
  • GC06P026195
  • GC06P026030

Summaries for HFE Gene

Entrez Gene Summary for HFE Gene

  • The protein encoded by this gene is a membrane protein that is similar to MHC class I-type proteins and associates with beta2-microglobulin (beta2M). It is thought that this protein functions to regulate iron absorption by regulating the interaction of the transferrin receptor with transferrin. The iron storage disorder, hereditary haemochromatosis, is a recessive genetic disorder that results from defects in this gene. At least nine alternatively spliced variants have been described for this gene. Additional variants have been found but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]

GeneCards Summary for HFE Gene

HFE (Hemochromatosis) is a Protein Coding gene. Diseases associated with HFE include Hemochromatosis and Microvascular Complications Of Diabetes 7. Among its related pathways are Hfe effect on hepcidin production. GO annotations related to this gene include receptor binding and peptide antigen binding. An important paralog of this gene is AZGP1.

UniProtKB/Swiss-Prot for HFE Gene

  • Binds to transferrin receptor (TFR) and reduces its affinity for iron-loaded transferrin.

Gene Wiki entry for HFE Gene

Additional gene information for HFE Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HFE Gene

Genomics for HFE Gene

Regulatory Elements for HFE Gene

Enhancers for HFE Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06H026120 2.1 FANTOM5 Ensembl ENCODE dbSUPER 9.9 +36.7 36694 7.8 ZFP64 DMAP1 YY1 SLC30A9 SP3 NFYC ZC3H11A SSRP1 ZNF610 RCOR2 ABT1 BTN2A3P HMGN4 BTN2A1 BTN2A2 ENSG00000272462 NUP50P2 HCG11 HFE HIST1H1D
GH06H026019 1.9 FANTOM5 ENCODE dbSUPER 7.2 -59.7 -59695 16.2 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC MEF2D ABT1 BTN2A1 BTN2A3P HMGN4 ENSG00000272462 BTN2A2 BTN3A2 ZNF322 HIST1H2APS5 NUP50P2
GH06H026102 1.2 ENCODE 11.1 +17.0 16969 3.6 MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC ZC3H11A SSRP1 ENSG00000272462 ABT1 HMGN4 BTN2A3P BTN2A1 GUSBP2 NUP50P2 HFE BTN2A2 ZNF322
GH06H026042 1.3 ENCODE dbSUPER 7.4 -42.5 -42452 4.7 HDGF PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 ZNF143 ENSG00000272462 BTN3A2 ZNF322 HIST1H2APS5 HMGN4 HIST1H1C HFE TRIM38 GC06P026043 HIST1H3C
GH06H026327 1.6 Ensembl ENCODE dbSUPER 5.2 +240.8 240846 2.3 ARNT SIN3A FEZF1 ZNF2 ZBTB7B ZNF766 ZNF207 FOS SP3 SP5 BTN3A2 ABT1 HIST1H4H ZNF322 LOC102724851 HMGN4 BTN2A3P HCG11 BTN2A2 BTN1A1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HFE on UCSC Golden Path with GeneCards custom track

Promoters for HFE Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000194982 320 1200 DMAP1 SLC30A9 ZNF766 ATF7 RUNX3 SMARCB1 ZNF592 KAT8 ATF4 SMARCA4

Genomic Locations for HFE Gene

Genomic Locations for HFE Gene
chr6:26,087,281-26,098,343
(GRCh38/hg38)
Size:
11,063 bases
Orientation:
Plus strand
chr6:26,087,509-26,098,571
(GRCh37/hg19)

Genomic View for HFE Gene

Genes around HFE on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HFE Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HFE Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HFE Gene

Proteins for HFE Gene

  • Protein details for HFE Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q30201-HFE_HUMAN
    Recommended name:
    Hereditary hemochromatosis protein
    Protein Accession:
    Q30201
    Secondary Accessions:
    • B2CKL0
    • O75929
    • O75930
    • O75931
    • Q17RT0
    • Q96KU5
    • Q96KU6
    • Q96KU7
    • Q96KU8
    • Q9HC64
    • Q9HC68
    • Q9HC70
    • Q9HC83

    Protein attributes for HFE Gene

    Size:
    348 amino acids
    Molecular mass:
    40108 Da
    Quaternary structure:
    • Binds TFR through the extracellular domain in a pH-dependent manner.

    Three dimensional structures from OCA and Proteopedia for HFE Gene

    Alternative splice isoforms for HFE Gene

neXtProt entry for HFE Gene

Post-translational modifications for HFE Gene

  • Glycosylation at posLast=110110, posLast=130130, and isoforms=10, 2, 3, 4, 5, 6, 7, 8234
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for HFE Gene

Domains & Families for HFE Gene

Gene Families for HFE Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins

Graphical View of Domain Structure for InterPro Entry

Q30201

UniProtKB/Swiss-Prot:

HFE_HUMAN :
  • Belongs to the MHC class I family.
Family:
  • Belongs to the MHC class I family.
genes like me logo Genes that share domains with HFE: view

Function for HFE Gene

Molecular function for HFE Gene

GENATLAS Biochemistry:
HFE protein,defective in HH normally expressed in cryptal enterocytes of the duodenum and in placenta,complexing with beta 2 microglobulin and transferrin receptor (TFR2),negative modulator of the uptake of transferrin-bound iron from plasma
UniProtKB/Swiss-Prot Function:
Binds to transferrin receptor (TFR) and reduces its affinity for iron-loaded transferrin.

Phenotypes From GWAS Catalog for HFE Gene

Gene Ontology (GO) - Molecular Function for HFE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 receptor binding IPI 10638746
GO:0005515 protein binding IPI 10638746
GO:0030881 beta-2-microglobulin binding IPI 9465039
GO:0039706 co-receptor binding IPI 22728873
GO:0042605 NOT peptide antigen binding IKR 8696333
genes like me logo Genes that share ontologies with HFE: view
genes like me logo Genes that share phenotypes with HFE: view

Human Phenotype Ontology for HFE Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for HFE Gene

MGI Knock Outs for HFE:

Clone Products

  • Addgene plasmids for HFE

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for HFE Gene

Localization for HFE Gene

Subcellular locations from UniProtKB/Swiss-Prot for HFE Gene

Cell membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HFE gene
Compartment Confidence
plasma membrane 5
extracellular 5
endosome 5
mitochondrion 3
cytoskeleton 2
nucleus 2
endoplasmic reticulum 2
cytosol 2
lysosome 2
peroxisome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
  • Nuclear membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for HFE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 21173098
GO:0005769 early endosome IDA 15880641
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 10638746
GO:0009897 external side of plasma membrane IDA 24904118
genes like me logo Genes that share ontologies with HFE: view

Pathways & Interactions for HFE Gene

genes like me logo Genes that share pathways with HFE: view

Pathways by source for HFE Gene

1 BioSystems pathway for HFE Gene

Interacting Proteins for HFE Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 12)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000417404%0d%0a9606.ENSP00000353224%0d%0a9606.ENSP00000399168%0d%0a9606.ENSP00000365402%0d%0a9606.ENSP00000365817%0d%0a9606.ENSP00000264568%0d%0a
Selected Interacting proteins: Q30201-HFE_HUMAN ENSP00000417404 for HFE Gene via IID MINT STRING UniProtKB

Symbol External ID(s) Details
HLA-B
HLA-A
HLA-C
HLA-DRB1
B2M

Gene Ontology (GO) - Biological Process for HFE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002474 NOT antigen processing and presentation of peptide antigen via MHC class I IKR 8696333
GO:0002626 negative regulation of T cell antigen processing and presentation IEA --
GO:0002725 negative regulation of T cell cytokine production IGI 24643698
GO:0006461 protein complex assembly TAS 10638746
GO:0006810 transport IEA --
genes like me logo Genes that share ontologies with HFE: view

No data available for SIGNOR curated interactions for HFE Gene

Drugs & Compounds for HFE Gene

(18) Drugs for HFE Gene - From: PharmGKB, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adalimumab Approved Pharma 512
heme Pharma Agonist 0

(15) Additional Compounds for HFE Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
genes like me logo Genes that share compounds with HFE: view

Transcripts for HFE Gene

Unigene Clusters for HFE Gene

Hemochromatosis:
Representative Sequences:

Clone Products

  • Addgene plasmids for HFE

Alternative Splicing Database (ASD) splice patterns (SP) for HFE Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b · 7c · 7d
SP1: - -
SP2: - -
SP3: - - -
SP4: - - -
SP5: - - -
SP6: - - - -
SP7: - - - -
SP8: - - - - -
SP9: - - - - -
SP10: -
SP11: - - - - - - -

Relevant External Links for HFE Gene

GeneLoc Exon Structure for
HFE
ECgene alternative splicing isoforms for
HFE

Expression for HFE Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HFE Gene

Protein differential expression in normal tissues from HIPED for HFE Gene

This gene is overexpressed in Spleen (31.0) and Placenta (12.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for HFE Gene



NURSA nuclear receptor signaling pathways regulating expression of HFE Gene:

HFE

SOURCE GeneReport for Unigene cluster for HFE Gene:

Hs.233325

mRNA Expression by UniProt/SwissProt for HFE Gene:

Q30201-HFE_HUMAN
Tissue specificity: Expressed in all tissues tested except brain.

Evidence on tissue expression from TISSUES for HFE Gene

  • Intestine(4.6)
  • Liver(3.3)
  • Blood(2.7)
  • Heart(2.3)
  • Nervous system(2.2)
  • Muscle(2)
  • Pancreas(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for HFE Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • ear
  • eye
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • pituitary gland
  • salivary gland
  • skull
Thorax:
  • breast
  • chest wall
  • clavicle
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • gallbladder
  • intestine
  • kidney
  • liver
  • pancreas
  • small intestine
  • spleen
Pelvis:
  • fallopian tube
  • ovary
  • pelvis
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with HFE: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein tissue co-expression partners for HFE Gene

Orthologs for HFE Gene

This gene was present in the common ancestor of chordates.

Orthologs for HFE Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HFE 33 34
  • 99.9 (n)
cow
(Bos Taurus)
Mammalia HFE 33 34
  • 83.24 (n)
dog
(Canis familiaris)
Mammalia HFE 33 34
  • 82.13 (n)
rat
(Rattus norvegicus)
Mammalia Hfe 33
  • 78.3 (n)
mouse
(Mus musculus)
Mammalia Hfe 33 16 34
  • 77.23 (n)
oppossum
(Monodelphis domestica)
Mammalia HFE 34
  • 59 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 35 (a)
ManyToMany
chicken
(Gallus gallus)
Aves -- 34
  • 31 (a)
ManyToMany
-- 34
  • 31 (a)
ManyToMany
-- 34
  • 30 (a)
ManyToMany
-- 34
  • 30 (a)
ManyToMany
-- 34
  • 30 (a)
ManyToMany
-- 34
  • 29 (a)
ManyToMany
BF1 34
  • 29 (a)
ManyToMany
BFIV21 34
  • 29 (a)
ManyToMany
-- 34
  • 28 (a)
ManyToMany
-- 34
  • 28 (a)
ManyToMany
-- 34
  • 28 (a)
ManyToMany
-- 34
  • 26 (a)
ManyToMany
-- 34
  • 26 (a)
ManyToMany
-- 34
  • 25 (a)
ManyToMany
-- 34
  • 24 (a)
ManyToMany
-- 34
  • 24 (a)
ManyToMany
-- 34
  • 24 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 39 (a)
ManyToMany
-- 34
  • 38 (a)
ManyToMany
-- 34
  • 38 (a)
ManyToMany
-- 34
  • 35 (a)
ManyToMany
-- 34
  • 33 (a)
ManyToMany
-- 34
  • 33 (a)
ManyToMany
-- 34
  • 33 (a)
ManyToMany
-- 34
  • 32 (a)
ManyToMany
-- 34
  • 32 (a)
ManyToMany
-- 34
  • 32 (a)
ManyToMany
-- 34
  • 32 (a)
ManyToMany
-- 34
  • 31 (a)
ManyToMany
-- 34
  • 31 (a)
ManyToMany
-- 34
  • 31 (a)
ManyToMany
-- 34
  • 31 (a)
ManyToMany
-- 34
  • 31 (a)
ManyToMany
-- 34
  • 29 (a)
ManyToMany
-- 34
  • 29 (a)
ManyToMany
-- 34
  • 26 (a)
ManyToMany
-- 34
  • 26 (a)
ManyToMany
Species where no ortholog for HFE was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for HFE Gene

ENSEMBL:
Gene Tree for HFE (if available)
TreeFam:
Gene Tree for HFE (if available)

Paralogs for HFE Gene

Paralogs for HFE Gene

genes like me logo Genes that share paralogs with HFE: view

Variants for HFE Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for HFE Gene

HFE_HUMAN-Q30201
Genetic variations in HFE define the transferrin serum level quantitative trait locus 2 (TFQTL2) [MIM:614193]. Iron is essential for biochemical functions such as oxygen transport and oxidative phosphorylation. Excessive iron can cause iron-overload-related liver diseases, whereas iron deficiency can lead to anemia. Iron status can be assessed by measuring the levels of serum iron, serum transferrin, transferrin saturation with iron, and serum ferritin.

Sequence variations from dbSNP and Humsavar for HFE Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs111033558 Pathogenic, Hemochromatosis 1 (HFE1) [MIM:235200] 26,093,215(+) ATTAA(C/G/T)GAAGA nc-transcript-variant, reference, missense
rs111033563 Pathogenic, Hemochromatosis 1 (HFE1) [MIM:235200] 26,092,916(+) GTGCC(A/C)GGTGG intron-variant, nc-transcript-variant, upstream-variant-2KB, reference, missense
rs143175221 Hemochromatosis 1 (HFE1) [MIM:235200] 26,092,952(+) CATTG(C/T)GATCT intron-variant, nc-transcript-variant, upstream-variant-2KB, reference, missense
rs149342416 Uncertain significance, Hemochromatosis 1 (HFE1) [MIM:235200] 26,087,458(+) GCCAG(C/G)CCGGC nc-transcript-variant, reference, missense
rs1800562 Pathogenic, Hemochromatosis 1 (HFE1) [MIM:235200] 26,092,913(+) TACGT(A/G)CCAGG intron-variant, nc-transcript-variant, upstream-variant-2KB, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for HFE Gene

Variant ID Type Subtype PubMed ID
nsv428137 CNV loss 18775914
nsv1023453 CNV gain 25217958
dgv5926n100 CNV gain 25217958

Variation tolerance for HFE Gene

Residual Variation Intolerance Score: 83.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.56; 72.23% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HFE Gene

Human Gene Mutation Database (HGMD)
HFE
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HFE

Disorders for HFE Gene

MalaCards: The human disease database

(50) MalaCards diseases for HFE Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards