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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

HFE Gene

protein-coding GIFtS: 57
GCID: GC06P026087

hemochromatosis

Explore 148 diseases affiliated with
HFE via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Hemochromatosis¹		Hereditary Hemochromatosis Protein²
HLA-H¹ ² ³ ⁵		Hereditary Hemochromatosis Protein HLA-H²
HFE1² ⁵		High Fe²
MVCD7² ⁵		MHC Class I-Like Protein HFE²
HH²		HLAH³
TFQTL2²

External Ids:	HGNC: 4886¹	Entrez Gene: 3077²	Ensembl: ENSG00000010704⁷	OMIM: 613609⁵	UniProtKB: Q30201³

Export aliases for HFE gene to outside databases

Previous GC identifers: GC06P026130 GC06P026195 GC06P026030

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for HFE:

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)

UniProtKB/Swiss-Prot: HFE_HUMAN, Q30201

Function: Binds to transferrin receptor (TFR) and reduces its affinity for iron-loaded transferrin

Gene Wiki entry for HFE

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000006.11 NC_018917.1 NT_007592.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the HFE gene promoter:
C/EBPalpha
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: HFE promoter sequence

Search SABiosciences Chromatin IP Primers for HFE

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HFE

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p21.3 Ensembl cytogenetic band: 6p22.2 HGNC cytogenetic band: 6p21.3

HFE Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HFE gene location

GeneLoc information about chromosome 6 GeneLoc Exon Structure

GeneLoc location for GC06P026087: view genomic region (about GC identifiers)

Start:	26,087,448 bp from pter	End:	26,098,571 bp from pter
Size:	11,124 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: HFE_HUMAN, Q30201 (See protein sequence)

Recommended Name: Hereditary hemochromatosis protein precursor

Size: 348 amino acids; 40108 Da

Subunit: Binds TFR through the extracellular domain in a pH-dependent manner

Subcellular location: Membrane; Single-pass type I membrane protein

3 PDB 3D structures from and Proteopedia for HFE:

1A6Z (3D)

1C42 (3D)

1DE4 (3D)

Secondary accessions: B2CKL0 O75929 O75930 O75931 Q17RT0 Q96KU5 Q96KU6 Q96KU7 Q96KU8 Q9HC64 Q9HC68

Q9HC70 Q9HC83

Alternative splicing: 11 isoforms: Q30201-1 Q30201-2 Q30201-3 Q30201-4 Q30201-5 Q30201-6 Q30201-7 Q30201-8

Q30201-9 Q30201-10 Q30201-11 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for HFE: NX_Q30201

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q30201

HFE Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (9 alternative transcripts):

NP_000401.1 NP_620572.1 NP_620573.1 NP_620575.1 NP_620576.1 NP_620577.1 NP_620578.1 NP_620579.1

NP_620580.1

ENSEMBL proteins:

ENSP00000315936 ENSP00000259699 ENSP00000380217 ENSP00000313776 ENSP00000312342

ENSP00000417404 ENSP00000419725 ENSP00000337819 ENSP00000420802 ENSP00000420559

ENSP00000311698 ENSP00000417534

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	Uscn Proteins for HFE

Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (see all 10): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	TAS	10085150
GO:0005769	early endosome	IDA	15880641
GO:0005886	plasma membrane	TAS	10638746
GO:0005887	integral to plasma membrane	TAS	10638746
GO:0031410	cytoplasmic vesicle	IDA	15880641

HFE for ontologies About GeneDecksing

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

HFE for domains About GeneDecksing

5/7 InterPro domains/families (see all 7):

IPR011162 MHC_I/II-like_Ag-recog

IPR013783 Ig-like_fold

IPR003597 Ig_C1-set

IPR007110 Ig-like_dom

IPR003006 Ig/MHC_CS

Graphical View of Domain Structure for InterPro Entry Q30201

ProtoNet protein and cluster: Q30201

2 Blocks protein families:

IPB001039 MHC class I signature

IPB003597 Immunoglobulin C-type

UniProtKB/Swiss-Prot: HFE_HUMAN, Q30201

Similarity: Belongs to the MHC class I family

Similarity: Contains 1 Ig-like C1-type (immunoglobulin-like) domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: HFE_HUMAN, Q30201

Function: Binds to transferrin receptor (TFR) and reduces its affinity for iron-loaded transferrin

Genatlas biochemistry entry for HFE:

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

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In Situ Assay
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Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	IPI	15880641

HFE for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-outs for HFE: Hfe^tm2Nca Hfe^tm1Gfn Hfe^tm1.1Gfn Hfe^tm1.1Wsr Hfe^tm1Sly
     10 MGI mutant phenotypes (inferred from 9 alleles) (MGI details for Hfe):

behavior/neurological	digestive/alimentary	growth/size	hematopoietic system	homeostasis/metabolism
immune system	limbs/digits/tail	liver/biliary system	mortality/aging	normal

HFE for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for HFE

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/52 Interacting proteins for HFE (Q30201^{2, 3} ENSP00000417404⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 52)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
B2M	P61769²^,³, ENSP00000340858⁴	MINT-7896236 MINT-7896218 I2D: score=4 STRING: ENSP00000340858
TFRC	P02786²^,³, ENSP00000353224⁴	MINT-7896162 I2D: score=5 STRING: ENSP00000353224
HSPA5	P11021²^,³, ENSP00000324173⁴	MINT-7896149 I2D: score=1 STRING: ENSP00000324173
TF	P02787²^,³, ENSP00000264998⁴	MINT-7896348 MINT-7896317 MINT-7896366 MINT-7896258 MINT-7896330 I2D: score=2 STRING: ENSP00000264998
TFR2	Q9UP52³, ENSP00000223051⁴	I2D: score=3 STRING: ENSP00000223051

About this table

Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0002474	antigen processing and presentation of peptide antigen via MHC class I	IEA	--
GO:0006461	protein complex assembly	TAS	10638746
GO:0006826	iron ion transport	TAS	10085150
GO:0006879	cellular iron ion homeostasis	TAS	10638746
GO:0006898	receptor-mediated endocytosis	TAS	10085150

HFE for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

HFE for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for HFE

2 HMDB Compounds for HFE About this table

Compound	Synonyms	CAS #	PubMed Ids
Heme	(protoporphyrinato)iron (see all 19)	14875-96-8	--
Iron	Armco iron (see all 19)	7439-89-6	--

10/31 Novoseek chemical compound relationships for HFE gene (see all 31) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
iron	93.7	1571	12429850 (8), 10984552 (7), 10772870 (7), 12149232 (7) (see all 99)
nash	57.6	26	10488699 (5), 19267193 (4), 15637751 (2), 17680648 (2) (see all 9)
uroporphyrin	55.7	1	11172342 (1)
rsai	50.7	1	11436126 (1)
hemosiderin	36.8	1	14972004 (1)
aspartate	24	4	16615007 (1), 17134494 (1), 11059064 (1), 11427792 (1)
cysteine	15.6	8	9873093 (1), 12712648 (1), 15223008 (1), 14740507 (1) (see all 8)
5-aminolevulinic acid	15.6	3	11172342 (2), 11202050 (1)
alanine	8.95	3	16615007 (1), 18593631 (1), 11427792 (1)
oligonucleotide	5.32	1	11017930 (1)

Search CenterWatch for drugs/clinical trials and news about HFE

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for HFE gene (11 alternative transcripts):

NM_000410.3 NM_139003.2 NM_139004.2 NM_139006.2 NM_139007.2 NM_139008.2 NM_139009.2 NM_139010.2

NM_139011.2 NM_139002.2 NM_139005.2

Unigene Cluster for HFE:

Hemochromatosis

Hs.233325 [show with all ESTs]

Unigene Representative Sequence: NM_000410

14 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000352392 ENST00000349999 ENST00000397022 ENST00000317896(uc003ngb.1 uc003ngc.1 uc003nge.1 uc003ngf.1)

ENST00000353147 ENST00000483782 ENST00000357618(uc003nfy.1 uc010jqe.1 uc003nfz.1 uc003nfx.1 uc003ngd.1 uc003nga.1)

ENST00000470149 ENST00000336625 ENST00000486147 ENST00000461397 ENST00000488199

ENST00000309234 ENST00000485729

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Additional cDNA sequence:

AF079407.1 AF079408.1 AF079409.1 AF115264.1 AF115265.1 AF144240.1 AF144242.1 AF149804.1

AJ249335.1 AJ249336.1 AJ249337.1 AJ249338.1 AJ250635.1 AJ298839.1 AJ298840.1 AJ404378.1

AK123489.1 AK293393.1 AK300933.1 AK316502.1 AY205604.1 BC074721.2 BC117201.1 BC117203.1

BC143887.1

8 DOTS entries:

DT.100783479 DT.100783486 DT.95271885 DT.100783480 DT.100783483 DT.70104039 DT.87015035 DT.91759729

24/69 AceView cDNA sequences (see all 69):

AF079409 AF147392 NM_139005 NM_139006 AJ249338 NM_139003 AJ298839 R76373

BX106516 AF109385 NM_139004 AJ249337 AI955100 NM_139008 NM_000410 AF079407

NM_139011 BC074721 NM_139010 BM751283 AU279987 AY205604 AJ250635 AJ249335

GeneLoc Exon Structure

5/11 Alternative Splicing Database (ASD) splice patterns (SP) for HFE (see all 11) About this scheme

ExUns:	1a	·	1b	·	1c	·	1d	^	2a	·	2b	^	3	^	4	^	5a	·	5b	·	5c	^	6	^	7a	·	7b	·	7c	·	7d
SP1:																	-				-
SP2:															-						-
SP3:									-						-						-
SP4:															-		-				-
SP5:													-		-						-

ECgene alternative splicing isoforms for HFE

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

HFE expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image
See HFE Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for HFE

SOURCE GeneReport for Unigene cluster: Hs.233325

UniProtKB/Swiss-Prot: HFE_HUMAN, Q30201

Tissue specificity: Expressed in all tissues tested except brain

SABiosciences Custom PCR Arrays for HFE

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for HFE gene from 3/10 species (see all 10) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	F1NM79_CHICK⁶ -- (see all 15)	--	37(a) 33(a) (see all 15)	many ↔ many many ↔ many (see all 15)	16(40458-41204) 16(25465-26697)
lizard (Anolis carolinensis)	Reptilia	-- -- (see all 25)	--	40(a) 39(a) (see all 25)	many ↔ many many ↔ many (see all 25)	AAWZ02040156(3915-5955) AAWZ02038573(7605-9645)
zebrafish (Danio rerio)	Actinopterygii	zgc:136614⁶ si:ch211-287j19.6⁶ (see all 7)	si:ch211-287j19.6 (see all 7)	23(a) 23(a) (see all 7)	many ↔ many many ↔ many (see all 7)	1(47637895-47648897) 1(47613228-47619236)

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for HFE gene

HLA-F² MR1² HLA-B² FCGRT² HLA-E² HLA-C² HLA-A² HLA-G²

18/133 SIMAP similar genes for HFE using alignment to 42 protein entries: HFE_HUMAN (see all proteins) (see all similar genes):

HLA-Cw2 HLA-ABC HLA-A*0201V3 MR1 HLA-A*01 HLA-A24AK

HLA-F FLJ45422 HLA-A*33 HLA-B41 HLA-Bw62.4 DKFZp686N10220

MHC HLA-A*02 HLA-A*0226 B-1510 HLA-Bw62.1 HLA-Bw62.5

HFE for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

UniProtKB/Swiss-Prot: HFE_HUMAN, Q30201

Polymorphism: 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	Valid	Clinical significance	Chr 6 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs28934889^1,2	C,F,	non-pathogenic	26034209(+)	`GCTACG/ATGGAT`	14	/M /V	mis¹ int¹ ese³		6		NS NA	4730
rs111033557^1,2	C	non-pathogenic	26034227(+)	`TGTTCA/GTGTTC`	14	M V	mis¹ int¹		0	--	--	--	--
rs1800730^1,2	C,F,	pathogenic	26034245(+)	`ATGAGA/TGTCGC`	14	S C	mis¹ int¹		4		NA EU	5997
rs28934597^1,2	C	pathogenic	26034329(+)	`TGAAAC/GGGTGG`	14	R G	mis¹ int¹ ese³		0	--	--	--	--
rs28934596^1,2	C	pathogenic	26034366(+)	`GACTAT/CTATGG`	14	/T /I	mis¹ int¹ ese³		1		NA	2
rs28934595^1,2	C	pathogenic	26034642(+)	`ATGCAA/CGAAGA`	14	Q H	mis¹ int¹		1		NA	2
rs1800562^1,2	C,F,H,	pathogenic	26036201(+)	`TACGTG/ACCAGG`	17	/Y /C	mis¹ int¹ ese³		33		MN NA EA NS EU	8755
rs111033563^1,2	C	pathogenic	26036204(+)	`GTGCCA/CGGTGG`	17	Q P	mis¹ int¹		0	--	--	--	--
rs111033558^1,2	C	pathogenic	26036503(+)	`ATTAAG/TGAAGA`	18	R M	mis¹		0	--	--	--	--
rs1799945^1,2	C,F,H,	other	26034239(+)	`ATGATC/GATGAG`	14	H D	mis¹ int¹		27		MN EA NS NA EU	8239

HapMap Linkage Disequilibrium report for HFE (26087448 - 26098571 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for HFE: --
Human Gene Mutation Database (HGMD): HFE

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing HFE

DNA2.0 Custom Variant and Variant Library Synthesis for HFE

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

HFE for disorders           About GeneDecksing

OMIM gene information: 613609
OMIM disorders: 235200  612635  176200  176100  104300  190000
UniProtKB/Swiss-Prot: HFE_HUMAN, Q30201

Defects in HFE are a cause of hemochromatosis (HFE) [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

Defects in HFE are associated with variegate porphyria (VP) [MIM:176200]. 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. VP 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=Iron overload due to HFE mutations is a precipitating or exacerbating factor in variegate

porphyria

Defects in HFE are associated with susceptibility to microvascular complications of diabetes type 7 (MVCD7)

[MIM:612635]. These are 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

20/148 diseases for HFE (see all 148): About MalaCards

hemochromatosis porphyria cutanea tarda transferrin serum level qtl porphyria variegata

hfe-associated hereditary hemochromatosis hyperferritinemia-cataract syndrome alpha 1-antitrypsin deficiency iron overload

microvascular complications of diabetes 7 porphyria early-onset familial alzheimer disease pyruvate kinase deficiency

hemochromatosis, type 3 age related macular degeneration iron deficiency anemia hemophilic arthropathy

alpha thalassemia variegate porphyria beta thalassemia thalassemia

12 diseases from the University of Copenhagen DISEASES database for HFE:

Hemochromatosis Porphyria cutanea tarda Iron metabolism disease Liver disease

Siderosis Genetic disorder Autosomal recessive disease Hepatitis C

Anemia Arthropathy Fatty liver disease Diabetes mellitus

10/96 Novoseek disease relationships for HFE gene (see all 96) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
hereditary hemochromatosis	98.6	401	12547214 (4), 10349514 (3), 15280838 (3), 11358390 (3) (see all 99)
hemochromatosis	98.3	533	11358388 (6), 12949720 (5), 10772870 (4), 10403350 (3) (see all 99)
iron overload	97.5	378	12792703 (4), 9922318 (3), 10942923 (3), 19433916 (3) (see all 99)
hemochromatosis, juvenile	90.5	8	17540536 (1), 12547233 (1), 17951290 (1), 15710580 (1) (see all 7)
porphyria cutanea tarda	85.6	44	15280838 (5), 9551677 (5), 11427792 (3), 19001803 (2) (see all 24)
african iron overload	85.4	5	10989544 (1), 12382201 (1), 11722599 (1), 17335681 (1)
hemochromatosis, type 3	83.8	2	17298224 (1), 11778658 (1)
iron disorder	81.4	2	11960574 (1), 11358390 (1)
siderosis	72.6	13	19931264 (1), 17635368 (1), 20064187 (1), 12297827 (1) (see all 11)
cirrhosis	71.9	35	17101320 (2), 11500061 (2), 12003382 (2), 12865278 (2) (see all 28)

Genatlas disease: HFE

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

GeneTests: HFE

HFE-Associated Hereditary Hemochromatosis

Genetic Association Database (GAD): HFE
Human Genome Epidemiology (HuGE) Navigator: HFE (600 documents)

Export disorders for HFE gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for HFE gene, integrated from 9 sources (see all 1247):
(articles sorted by number of sources associating them with HFE)

Utopia: connect your pdf to the dynamic
world of online information

Role of hemochromatosis C282Y and H63D mutations in HFE gene in development of type 2 diabetes and diabetic nephropathy. (PubMed id 11423500)^{1, 2, 4, 9} Moczulski D.K.... Gawlik B. (2001)
Crystal structure of the hereditary haemochromatosis protein HFE complexed with transferrin receptor. (PubMed id 10638746)^{1, 2, 9} Bennett M.J.... Bjorkman P.J. (2000)
Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor. (PubMed id 9546397)^{1, 2, 9} Lebron J.A.... Bjorkman P.J. (1998)
The Q283P amino-acid change in HFE leads to structural and functional consequences similar to those described for the mutated 282Y HFE protein. (PubMed id 15965644)^{1, 2, 9} Ka C.... Ferec C. (2005)
Hemochromatosis gene mutations and distal adenomatous colorectal polyps. (PubMed id 15668490)^{1, 4, 9} McGlynn K.A....Buetow K.H. (2005)
[Association of mutations of HFE gene and hepatocellular carcinoma following chronic hepatitis B] (PubMed id 16174459)^{1, 4, 9} Shi W.J....Cheng J. (2005)
[HFE gene mutations, hepatic iron content, and histological severity in hepatitis C virus-induced chronic hepatitis] (PubMed id 14972004)^{1, 4, 9} Ladero J.M....Diaz-Rubio M. (2003)
Analysis of HFE and TFR2 mutations in selected blood donors with biochemical parameters of iron overload. (PubMed id 12681966)^{1, 4, 9} De Gobbi M....Camaschella C. (2003)
A 3-dimensional model building by homology of the HFE protein: molecular consequences and application to antibody development. (PubMed id 11018711)^{1, 2, 9} Dupradeau F....Rochette J. (2000)
Two novel missense mutations of the HFE gene (I105T and G93R) and identification of the S65C mutation in Alabama hemochromatosis probands. (PubMed id 10575540)^{1, 2, 9} Barton J.C.... Acton R.T. (1999)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 3077	HGNC: 4886	AceView: HFE	Ensembl:ENSG00000010704	euGenes: HUgn3077
ECgene: HFE	H-InvDB: HFE

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for HFE	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for HFE	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HFE
NIEHS-SNPs	http://egp.gs.washington.edu/data/hfe/

Intellectual Property for HFE gene
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Patent Information for HFE gene:
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GeneCards and IP:
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Fatty Liver
WILSON DISEASE
Porphyria
Leg Ulcer
Lymphoblastic Leukemia Acute Childhood
Genetic Susceptibility
AFRICAN IRON OVERLOAD
Hepatitis Chronic
Anemia Hemolytic
HFE-Associated Hereditary Hemochromatosis
insulin sensitivity
Hereditary hemochromatosis
HEMOCHROMATOSIS, JUVENILE
Liver diseases
Iron deficiency anemia
Carrier State
Siderosis
HEMOCHROMATOSIS, TYPE 3
alpha-Thalassemia
Rheumatic Diseases
Anemia Dyserythropoietic Congenital
Alcohol abuse
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Spherocytosis Hereditary
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Colorectal Carcinoma
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Ovarian Cancer
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Inflammation
iron deficiency
Diabetic Nephropathies
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LIVER DAMAGE
ANEMIA SEVERE
Rheumatoid Arthritis
prostate cancer
Tumors
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metabolic disorder
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Lymphoblastic Leukemia Acute
Viral hepatitis
virus infection
Hepatitis C
Hemosiderosis
Coronary Heart Disease
Chronic Disease
Chondrocalcinosis
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arthropathy
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Osteoarthritis
ACUTE LEUKEMIA
Leukemia
Alzheimers Disease
Diabetes Mellitus
Intermedia thalassemia
HEPATOCELLULAR CARCINOMA
beta-Thalassemia
Porphyria Variegate
Hematologic Malignancies
Iron Disorder
Myocardial Infarction
HEART FAILURE
Coronary Artery Disease
Heart Diseases
Insulin Resistance
HYPERFERRITINEMIA-CATARACT SYNDROME
Liver Diseases Alcoholic
Adenoma
Hemoglobinopathies
Bleeding
Porphyria Cutanea Tarda
OBESITY
Hepatitis C Chronic
associated conditions
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FUNCTION LIVER ABNORMAL
Iron Overload
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chronic liver disease
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HFE Gene

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