Aliases for HFE Gene
Aliases for HFE Gene
External Ids for HFE Gene
- HGNC: 4886
- Entrez Gene: 3077
- Ensembl: ENSG00000010704
- OMIM: 613609
- UniProtKB: Q30201
Previous GeneCards Identifiers for HFE Gene
- GC06P026130
- GC06P026195
- GC06P026030
Summaries 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 HLA-A.
UniProtKB/Swiss-Prot for HFE Gene
-
Binds to transferrin receptor (TFR) and reduces its affinity for iron-loaded transferrin.
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
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around HFE on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the HFE gene promoter:
Regulatory Element Products
Genomic Location for HFE Gene
- Chromosome:
- 6
- Start:
- 26,087,281 bp from pter
- End:
- 26,098,343 bp from pter
- Size:
- 11,063 bases
- Orientation:
- Plus strand
Genomic View for HFE Gene
Genes around HFE on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 6p22.2 by Ensembl
- 6p22.2 by Entrez Gene
- 6p22.2 by HGNC
HFE Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
Protein Expression for HFE Gene
Post-translational modifications for HFE Gene
Other Protein References for HFE Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- EMD Millipore Complete listing of Mono and Polychlonal Antibodies for HFE
-
Custom Antibody ServicesOriGene Antibodies for HFE
- Novus Biologicals Antibodies for HFE
-
Abcam antibodies for HFE
- Invitrogen Antibodies for HFE
- antibodies-online Antibodies for HFE: See all 66
- GeneTex HFE antibody for HFE
-
Santa Cruz Biotechnology (SCBT) Antibodies for HFE
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for HFE
- Origene Custom Protein Services for HFE
- ProSpec Recombinant Proteins for HFE
- antibodies-online Proteins for HFE: See all 14
- Search antibodies-online for peptides
- Search GeneTex for Proteins for HFE
-
Abcam proteins for HFE
Assay Products
- antibodies-online Kits for HFE: See all 1
No data available for DME Specific Peptides for HFE Gene
Domains & Families for HFE Gene
Gene Families for HFE Gene
Protein Domains for HFE Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for HFE Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q30201- Family:
-
- Belongs to the MHC class I family.
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.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003823 | antigen binding | IBA | -- |
| 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 |
Phenotypes for HFE Gene
- MGI mutant phenotypes for HFE:
-
inferred from 11 alleles
- mortality/aging
- cellular phenotype
- behavior/neurological phenotype
- normal phenotype
- growth/size/body region phenotype
- immune system phenotype
- nervous system phenotype
- homeostasis/metabolism phenotype
- digestive/alimentary phenotype
- limbs/digits/tail phenotype
- hematopoietic system phenotype
- liver/biliary system phenotype
- no phenotypic analysis
- GenomeRNAi human phenotypes for HFE:
Animal Models for HFE Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Search ViGene Biosciences for HFE
CRISPR Products
-
OriGene CRISPR knockouts for HFE
-
Santa Cruz Biotechnology (SCBT) CRISPR for HFE
- GenScript: Design CRISPR guide RNA sequences for HFE
miRNA for HFE Gene
- miRTarBase miRNAs that target HFE
-
- hsa-mir-200b-3p (MIRT054541)
- hsa-mir-200a-3p (MIRT054542)
- hsa-mir-200c-3p (MIRT054543)
- hsa-mir-6848-3p (MIRT676954)
- hsa-mir-6843-3p (MIRT676955)
- hsa-mir-6878-3p (MIRT676956)
- hsa-mir-640 (MIRT676957)
- hsa-mir-378a-5p (MIRT676958)
- hsa-mir-6821-3p (MIRT676959)
- hsa-mir-1193 (MIRT676960)
- hsa-mir-6790-3p (MIRT676961)
- hsa-mir-3653-5p (MIRT676962)
- hsa-mir-1976 (MIRT676963)
- hsa-mir-2392 (MIRT676964)
- hsa-mir-4789-5p (MIRT693479)
- hsa-mir-95-5p (MIRT693480)
- hsa-mir-4801 (MIRT693481)
- hsa-mir-4731-3p (MIRT693482)
- hsa-mir-4511 (MIRT693483)
miRNA Products
- Search ViGene Biosciences for HFE
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for HFE
- Browse OriGene Inhibitory RNA Products For HFE
Clone Products
-
OriGene ORF clones in human for HFE
- RG220860
- RC220860L2
- RC220860L1
- RC220860
- RG217624
- RC217624L2
- RC217624L1
- RC217624
- RG219465
- RC219465L2
- RC219465L1
- RC219465
- RG220765
- RC220765L2
- RC220765L1
- RC220765
- RG217560
- RC217560L2
- RC217560L1
- RC217560
- RG219316
- RC219316L2
- RC219316L1
- RC219316
- RG217509
- RC217509L2
- RC217509L1
- RC217509
- RG219194
- RC219194L2
- RC219194L1
- RC219194
- RC237553
- RG217447
- RC217447L2
- RC217447L1
- RC217447
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for HFE
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for HFE
Cell Line Products
-
Horizon Cell Lines for HFE
Flow Cytometry Products
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.
| 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 |
| 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 |
Pathways & Interactions for HFE Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Hfe effect on hepcidin production | ||
Pathways by source for HFE Gene
1 BioSystems pathway for HFE Gene
Interacting Proteins for HFE Gene
Selected Interacting proteins:
Q30201-HFE_HUMAN
ENSP00000417404
for HFE Gene via
MINT
IID
STRING
UniProtKB
| 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 | -- |
No data available for SIGNOR curated interactions for HFE Gene
Transcripts for HFE Gene
mRNA/cDNA for HFE Gene
- (13) REFSEQ mRNAs :
- (25) Additional mRNA sequences :
- (69) Selected AceView cDNA sequences:
- (14) Ensembl transcripts including schematic representations, and UCSC links where relevant :
CRISPR Products
-
OriGene CRISPR knockouts for HFE
-
Santa Cruz Biotechnology (SCBT) CRISPR for HFE
- GenScript: Design CRISPR guide RNA sequences for HFE
miRNA Products
- Search ViGene Biosciences for HFE
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for HFE
- Browse OriGene Inhibitory RNA Products For HFE
Clone Products
-
OriGene ORF clones in human for HFE
- RG220860
- RC220860L2
- RC220860L1
- RC220860
- RG217624
- RC217624L2
- RC217624L1
- RC217624
- RG219465
- RC219465L2
- RC219465L1
- RC219465
- RG220765
- RC220765L2
- RC220765L1
- RC220765
- RG217560
- RC217560L2
- RC217560L1
- RC217560
- RG219316
- RC219316L2
- RC219316L1
- RC219316
- RG217509
- RC217509L2
- RC217509L1
- RC217509
- RG219194
- RC219194L2
- RC219194L1
- RC219194
- RC237553
- RG217447
- RC217447L2
- RC217447L1
- RC217447
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for HFE
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for HFE
Flow Cytometry Products
| 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: | - | - | - | - | - | - | - |
Expression 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:
HFESOURCE GeneReport for Unigene cluster for HFE Gene:
Hs.233325mRNA 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
Primer Products
-
OriGene qPCR primer pairs for HFE
-
OriGene qPCR primer pairs and template standards for HFE
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | HFE 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | HFE 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | HFE 34 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Hfe 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Hfe 34 16 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | HFE 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 35 |
|
ManyToMany | |
| chicken (Gallus gallus) |
Aves | -- 35 |
|
ManyToMany | |
| -- 35 |
|
ManyToMany | |||
| -- 35 |
|
ManyToMany | |||
| -- 35 |
|
ManyToMany | |||
| -- 35 |
|
ManyToMany | |||
| -- 35 |
|
ManyToMany | |||
| BF1 35 |
|
ManyToMany | |||
| BFIV21 35 |
|
ManyToMany | |||
| -- 35 |
|
ManyToMany | |||
| -- 35 |
|
ManyToMany | |||
| -- 35 |
|
ManyToMany | |||
| -- 35 |
|
ManyToMany | |||
| -- 35 |
|
ManyToMany | |||
| -- 35 |
|
ManyToMany | |||
| -- 35 |
|
ManyToMany | |||
| -- 35 |
|
ManyToMany | |||
| -- 35 |
|
ManyToMany | |||
| lizard (Anolis carolinensis) |
Reptilia | -- 35 |
|
ManyToMany | |
| -- 35 |
|
ManyToMany | |||
| -- 35 |
|
ManyToMany | |||
| -- 35 |
|
ManyToMany | |||
| -- 35 |
|
ManyToMany | |||
| -- 35 |
|
ManyToMany | |||
| -- 35 |
|
ManyToMany | |||
| -- 35 |
|
ManyToMany | |||
| -- 35 |
|
ManyToMany | |||
| -- 35 |
|
ManyToMany | |||
| -- 35 |
|
ManyToMany | |||
| -- 35 |
|
ManyToMany | |||
| -- 35 |
|
ManyToMany | |||
| -- 35 |
|
ManyToMany | |||
| -- 35 |
|
ManyToMany | |||
| -- 35 |
|
ManyToMany | |||
| -- 35 |
|
ManyToMany | |||
| -- 35 |
|
ManyToMany | |||
| -- 35 |
|
ManyToMany | |||
| -- 35 |
|
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)
Paralogs for HFE Gene
(135) SIMAP similar genes for HFE Gene using alignment to 42 proteins:
- HFE_HUMAN
- F5B2M9_HUMAN
- F8W7W8_HUMAN
- G3LGQ4_HUMAN
- G3LGQ5_HUMAN
- G3LGQ6_HUMAN
- G3LGQ7_HUMAN
- G3LGQ9_HUMAN
- G3LGR0_HUMAN
- G3LGR1_HUMAN
- H2E8T4_HUMAN
- H2E8T5_HUMAN
- H2E8T7_HUMAN
- H2E8T8_HUMAN
- H2EQK2_HUMAN
- H7C4K4_HUMAN
- I1VA54_HUMAN
- I1VA55_HUMAN
- I1VA56_HUMAN
- I1VA57_HUMAN
- I1VA63_HUMAN
- I1VA65_HUMAN
- I1VA66_HUMAN
- I1VA70_HUMAN
- I1VA71_HUMAN
- I1VA72_HUMAN
- J9QF30_HUMAN
- K0I859_HUMAN
- K0IIP4_HUMAN
- Q6B0J5_HUMAN
- Q86WL1_HUMAN
- Q8MH46_HUMAN
- Q9BXI5_HUMAN
- Q9HC63_HUMAN
- Q9HC65_HUMAN
- Q9HC66_HUMAN
- Q9HC67_HUMAN
- Q9HC69_HUMAN
- Q9HC71_HUMAN
- Q9HC72_HUMAN
- Q9TQ79_HUMAN
- Q9UK37_HUMAN
- HLA-Cw2
- HLA-ABC
- HLA-A*0201V3
- HLA-A*01
- HLA-F
- HLA-A24AK
- MR1
- FLJ45422
- HLA-A*33
- HLA-B41
- HLA-A*31
- HLA
- HLA-Bw62.4
- DKFZp686N10220
- MHC
- HLA-A*0226
- HLA-A*02
- HLA-Bw62.5
- HLA-Bw62.1
- B-1510
- HLA-B*3512
- HLA-A*24
- HLA-E
- HLAC
- HLA-G2.2
- HLA-A*03
- Cw
- B-3501
- HLA-Bw62.3
- HLA-A
- HLA-A*2410
- HLA-B*27
- HLA-G
- HLA-All
- HLA-B*
- HLA-H
- HLA-Cw*
- HLA-A null
- EA1.2
- HLA-B35
- HLA-B57
- B*56
- HLA B
- HLA DQB1
- HLA-B*47RG
- AZGP1
- HLA-B
- HLA-Cw3
- MICA
- MHC class I HLA-A
- HLA C*
- DKFZp686P19218
- HLA-CW
- HLA-B*3531
- HLA-B27
- HLA-A2
- HLA-DQB1*05
- HLA-A*0225
- HLA-Cw
- HLA-C
- HLA-B52
- MICB
- HLA-B*1513
- HLA-B*4202
- MHC-G
- Cw*08
- B*35
- B*15
- HLA-Cw*02023
- HLA-B51
- HLA-B*51IM
- HLA-B*35KM
- HLA-B gene
- HLC-C
- HLA-B52v
- HLA-B*5101 variant
- HLA-B*35JAC
- HLA-Cw*03
- HLA-B15
- HLA-B*58
- HLA-B*13
- HLA-Cw*03MAC
- HLA-B*40
- HLA-B*15IL
- HLA-B*1522
- HLA-Cw*15P
- HLA-DPB1
- SIRPB1
- HLA-B*5501 variant
- HLA-B*07ML
- HLA-B18
- HLA-B1501V2
- HLA-B*5603
- HLA-B*1805
- HLA-B*15UL
- HLA -B
- HLA-DQ3
- HLA-B*35SRE
- HLA-B*18 variant
- HLA-B*15MD
- HLA-DQB2
- HLA-B*0707
- HLA-Cw*07
- Cw*03
- FCGRT
- HLA-DQB
- HLA-DQ-beta
- HLA-DQ
- HLA-B*4012
- HLA G locus
- EA2.1
- HLA-DPB
- HLA-A26
- HLQ-DQB1
- HLA-DQB1
- HLA-Cw*0707
- HLA-DRB2
- HLA-DR-beta1
- HLA-DR-beta 1
- HLA-DQB1/DRB1
- DRB1
- HLA-J
- HLA-DR
- HLA-D
- HLA-DRB1
- HLA-DRB3
- CD1C
- HLA-DQB1*06x
- HLA-Dw12
- PTPNS1
- CD1E
- RAET1H
- HLA-DRB4
- IGHD
- FLJ00382
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.
| 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 |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv5926n100 | CNV | gain | 25217958 |
| nsv1023453 | CNV | gain | 25217958 |
| nsv428137 | CNV | loss | 18775914 |
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
Disorders for HFE Gene
(47) MalaCards diseases for HFE Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| hemochromatosis |
|
|
| microvascular complications of diabetes 7 |
|
|
| porphyria variegata |
|
|
| alzheimer disease |
|
|
| porphyria cutanea tarda |
|
Search HFE in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
HFE_HUMAN- Hemochromatosis 1 (HFE1) [MIM:235200]: A disorder of iron metabolism characterized by iron overload. Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading. {ECO:0000269 PubMed:10094552, ECO:0000269 PubMed:10194428, ECO:0000269 PubMed:10401000, ECO:0000269 PubMed:10575540, ECO:0000269 PubMed:11423500, ECO:0000269 PubMed:11446670, ECO:0000269 PubMed:12542741, ECO:0000269 PubMed:12584229, ECO:0000269 PubMed:12737937, ECO:0000269 PubMed:14633868, ECO:0000269 PubMed:15046077, ECO:0000269 PubMed:15965644, ECO:0000269 PubMed:18157833, ECO:0000269 PubMed:8696333, ECO:0000269 PubMed:9024376, ECO:0000269 PubMed:9106528, ECO:0000269 PubMed:9620340, ECO:0000269 Ref.25}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Microvascular complications of diabetes 7 (MVCD7) [MIM:612635]: Pathological conditions that develop in numerous tissues and organs as a consequence of diabetes mellitus. They include diabetic retinopathy, diabetic nephropathy leading to end-stage renal disease, and diabetic neuropathy. Diabetic retinopathy remains the major cause of new-onset blindness among diabetic adults. It is characterized by vascular permeability and increased tissue ischemia and angiogenesis. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
- Variegate porphyria (VP) [MIM:176200]: A form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. Variegate porphyria is the most common form of porphyria in South Africa. It is characterized by skin hyperpigmentation and hypertrichosis, abdominal pain, tachycardia, hypertension and neuromuscular disturbances. High fecal levels of protoporphyrin and coproporphyrin, increased urine uroporphyrins and iron overload are typical markers of the disease. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. Iron overload due to HFE variants is a precipitating or exacerbating factor in variegate porphyria.
Genatlas disease for HFE Gene
hemochromatosis,adult form,characterized by increased iron absorption of dietary iron leading to iron accumulation and cirrhosis of the liver,diabetes mellitus,skin pigmentation,cardiac arrhythmia and failure and arthropathy,excluding juvenile form,with increased risk of acute myocardial infarction in carriers of the Cys282Tyr mutation
Relevant External Links for HFE
Publications for HFE Gene
- Serum ferritin is a clinical biomarker in Japanese patients with nonalcoholic steatohepatitis (NASH) independent of HFE gene mutation. (PMID: 19267193) Yoneda M. … Nakajima A. (Dig. Dis. Sci. 2010) 3 22 46 64
- HFE gene mutations and Wilson's disease in Sardinia. (PMID: 19640812) Sorbello O. … Demelia L. (Dig Liver Dis 2010) 3 22 46 64
- HFE genotype, parenchymal iron accumulation, and liver fibrosis in patients with nonalcoholic fatty liver disease. (PMID: 19931264) Valenti L. … Fargion S. (Gastroenterology 2010) 3 22 46 64
- Associations among behavior-related susceptibility factors in porphyria cutanea tarda. (PMID: 19948245) Jalil S. … Anderson K.E. (Clin. Gastroenterol. Hepatol. 2010) 3 22 46 64
- The role of iron overload and HFE gene mutations in the era of pegylated interferon and ribavirin treatment of chronic hepatitis C. (PMID: 20190684) Sikorska K. … Bielawski K.P. (Med. Sci. Monit. 2010) 3 22 46 64
Products for HFE Gene
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