V3 here soon-try beta now


Gene Search (GeneCards Home)	\|	GeneCards Guide	\|	User Feedback	\|	Terms of Use	\|	Notice about third-party sites

HFE Gene

protein-coding GIFtS: 62

GC06P026195

hemochromatosis
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database

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

Aliases
HFE1 ^², ⁵
HH ^²
HLA-H ^¹, ², ³, ⁵
HLAH ^³
MGC103790 ^²
MVCD7 ^², ⁵
dJ221C16.10.1 ^²
hemochromatosis ^²

Descriptions
MHC class I-like protein HFE ^²
hemochromatosis protein ^²
hereditary hemochromatosis protein HLA-H ^²
high Fe ^²

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

Search outside databases for aliases for HFE gene

Previous GC identifer: GC06P026130

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

EntrezGene 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]

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 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the HFE gene

Entrez Gene cytogenetic band: 6p21.3 Ensembl cytogenetic band: 6p22.1 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)

GeneLoc gene densities for chromosome 6 GeneLoc Exon Structure

GeneLoc location for GC06P026195: (about GC identifiers)

Start:	26,195,427 bp from pter
End:	26,205,038 bp from pter
Size:	9,612 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000006.10 NT_007592.14

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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

PDB structures from and Proteopedia :

1A6Z (3D)

1C42 (3D)

1DE4 (3D)

Secondary accessions: O75929 O75930 O75931 Q17RT0 Q96KU5 Q96KU7 Q96KU8 Q9HC64 Q9HC68 Q9HC70 Q9HC83

Alternative splicing: 10 isoforms: Q30201-1 Q30201-2 Q30201-3 Q30201-4 Q30201-5 Q30201-6 Q30201-7 Q30201-8

Q30201-9 Q30201-10 (Additional isoforms seem to exist)

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:

ENSP00000313489 ENSP00000350238 ENSP00000259699 ENSP00000311698 ENSP00000313776 ENSP00000380217

ENSP00000312342 ENSP00000315936 ENSP00000337819 ENSP00000344033

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (HFE)
	Human Recombinant Proteins from Abnova (HFE)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

4 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	TAS	10085150
GO:0005886	plasma membrane	TAS	10638746
GO:0005887	integral to plasma membrane	TAS	10638746
GO:0042612	MHC class I protein complex	IEA	--

About this table

Antibodies for HFE:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Sigma-Aldrich Antibodies for HFE
	Browse R&D Systems for Antibodies
	Antibodies from Abcam (HFE), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (HFE)
	Novus Biologicals Antibodies for HFE

Assays for HFE:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

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

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 MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (HFE)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (HFE)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 11): NM_000410

Applied Biosystems Silencer® siRNAs for HFE

Sigma-Aldrich siRNA and siRNA Panels for HFE

Sigma-Aldrich shRNA for HFE

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for HFE
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 9): NM_000410
Myc/DDK tagged cDNA clones in CMV expression vector (see all 9): NM_000410
untagged cDNA clones in CMV expression vector (see all 12): NM_000410

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_000410

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

11 MGI mutant phenotypes (inferred from 8 alleles) (MGI details for Hfe):

behavior/neurological	digestive/alimentary	growth/size	hematopoietic system	homeostasis/metabolism
immune system	lethality-postnatal	life span-post-weaning/aging	limbs/digits/tail	liver/biliary system
normal

1 Gene Ontology (GO) molecular function term (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005506	iron ion binding	IEA	--

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

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

5/28 Interacting proteins for HFE (ENSP00000311698³) via UniProtKB, MINT, and/or STRING (see all 28 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
B2M	ENSP00000340858³	STRING (score=.999)
TFRC	ENSP00000353224³	STRING (score=.999)
TFR2	ENSP00000223051³	STRING (score=.998)
TF	ENSP00000264998³	STRING (score=.994)
HAMP	ENSP00000222304³	STRING (score=.993)

About this table

5/8 Gene Ontology (GO) biological process terms (links to tree view) (see all 8 ):

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:0006811	ion transport	IEA	--
GO:0006826	iron ion transport	TAS	10085150
GO:0006879	cellular iron ion homeostasis	TAS	10638746

About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for HFE
10/25 Novoseek chemical compound relationships for HFE gene (see all 25 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
iron	93.60	1458	12429850 (8), 10984552 (7), 10772870 (7), 12149232 (7) (see all 99)
nash	58.32	20	10488699 (5), 15637751 (2), 17680648 (2), 17916170 (2) (see all 8)
uroporphyrin	56.71	1	11172342 (1)
rsai	51.99	1	11436126 (1)
hemosiderin	38.27	1	14972004 (1)
5-aminolevulinic acid	17.42	3	11172342 (2), 11202050 (1)
porphyrin	7.18	1	15544735 (1)
oligonucleotide	5.40	1	11017930 (1)
histidine	5.22	2	17134494 (1), 11059064 (1)
zinc	3.13	1	16240673 (1)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (HFE)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (HFE)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 11): NM_000410

Sigma-Aldrich siRNA and siRNA Panels for HFE

Sigma-Aldrich shRNA for HFE

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_000410 NM_139003 NM_139004 NM_139006 NM_139007 NM_139008 NM_139009 NM_139010

NM_139011

REFSEQ mRNAs for HFE gene (9 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

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_000410 NM_139003 NM_139004 NM_139006 NM_139007 NM_139008 NM_139009 NM_139010

NM_139011

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 9): NM_000410
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 9): NM_000410
                                 untagged cDNA clones in CMV expression vector (see all 12): NM_000410

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

10 DOTS entries:

DT.100783479 DT.100783486 DT.95271885 DT.100783480 DT.100783483 DT.210913 DT.70104039 DT.87015035

DT.91987902 DT.91759729

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

AF147392 AF109385 NM_139005 AJ249335 NM_139007 AY205604 AJ249336 AF079408

NM_139011 NM_139004 NM_139009 NM_000410 AF079409 AJ249337 AI955100 BX106516

AJ250635 NM_139010 CB529554 NM_139002 AF079407 AJ298839 AJ298840 AU279987

highest scoring ESTs for HFE:

AI040303 AI122894 AI127651 AI763178 AJ404378 AW469921 BF445847 BF446089 R07647 R50398

Unigene Cluster for HFE:

Hemochromatosis

Hs.233325 [show with all ESTs]

Unigene Representative Sequence: NM_000410

GeneLoc Exon Structure

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

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

About this scheme

ECgene alternative splicing isoforms for HFE

10 Ensembl transcripts including schematic representations:

ENST00000317880 ENST00000357618 ENST00000349999 ENST00000309234 ENST00000317896 ENST00000397022

ENST00000353147 ENST00000352392 ENST00000336625 ENST00000345823

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

HFE expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for HFE

¹ / ² / ³

32 probe-sets matching HFE gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
80609_at²^{, 3}	U95-D	1	1.00	1.00	0.63	1.13	AI290427	0.60	1.00	0.82	1
38913_at²^{, 3}	U95-A	1	1.00	1.00	0.87	0.98	U60319	0.80	1.00	0.91	1
50664_at²^{, 3}	U95-B	1	0.81	1.00	0.61	0.91	T59431	0.20	1.00	0.72	1
211332_x_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AF144241	0.40	1.00	0.76	1
214647_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	BG402460	0.60	1.00	0.82	1
211866_x_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AF079409	0.60	1.00	0.82	1
206086_x_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AF115265	0.60	1.00	0.82	1
211328_x_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AF144244	0.40	1.00	0.76	1
211329_x_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AF115264	0.60	1.00	0.82	1
211863_x_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AF079408	0.60	1.00	0.82	1
211326_x_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AF150664	0.40	1.00	0.76	1
211327_x_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AF149804	0.60	1.00	0.82	1
211330_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AF144242	0.60	1.00	0.82	1
211331_x_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AF144243	0.40	1.00	0.76	1
206087_x_at²^{, 3}	U133-A	16	1.00	0.92	--	--	NM_000410	0.60	1.00	0.82	1
210864_x_at²^{, 3}	U133-A	16	1.00	0.92	--	--	AF144240	0.60	1.00	0.82	1
235754_at²	U133-B	1	0.91	1.00	--	--	--	--	--	--	--
211332_x_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
1553402_a_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
214647_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
211866_x_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
206086_x_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
211328_x_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
211329_x_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
211863_x_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
211330_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
211326_x_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
211327_x_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
211331_x_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
206087_x_at²	U133Plus2	16	1.00	0.92	--	--	--	--	--	--	--
210864_x_at²	U133Plus2	16	1.00	0.92	--	--	--	--	--	--	--
235754_at²	U133Plus2	1	0.91	1.00	--	--	--	--	--	--	--

About this table

Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: --

SOURCE GeneReport for Unigene cluster: Hs.233325
Expression variation in blood from EXPOLDB for HFE
UniProtKB/Swiss-Prot: HFE_HUMAN, Q30201
Tissue specificity: In all tissues tested except brain

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for HFE gene from 3 species

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
chimpanzee (Pan troglodytes)	HFE¹	--	hemochromatosis	99.9(n) 100(a)	462489 NM_001009101.1 NP_001009101.1
cow (Bos taurus)	hfe¹	--	hemochromatosis	83.24(n) 78.16(a)	497622 NM_001012399.1 NP_001012399.1
mouse (Mus musculus)	Hfe^{1, 5}	13 (15.00 cM)⁵	hemochromatosis^{1, 5}	75.92(n)¹ 69.36(a)¹	15216¹ NM_010424.3¹ NP_034554.2¹ AF007558⁵ AJ298838⁵ (see all 14)

About this table Species with no ortholog for HFE

ENSEMBL Gene Tree for HFE

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

Paralogs for HFE gene

ENSG00000204520² AZGP1P1² FCGRT² ENSG00000204516² AZGP1P2²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/114 NCBI SNPs in HFE are shown (see all 114 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 57)

AB	SNP ID	Valid	Chr 6 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs1800702^1,2	A,C,F,H,O	26194442(+)	`CTGAAC/GCAGCA`	9	--	ng5¹		17	EA NA EU WA NS	1238
--	rs2006736^1,2	A,C,F,H	26193996(-)	`ggcccG/Agctca`	9	--	ng5¹		9	EU EA WA NS	598
--	rs2794720^1,2	A,C,F,H	26195181(-)	`AACACC/GTTCCA`	9	--	ng5¹		9	EU EA WA NS	600
--	rs1971509^1,2	A,C,F	26193756(-)	`ccatcA/Gcactc`	9	--	ng5¹		5	NS	176
	rs707889^1,2	C,F,H	26203910(-)	`GCTCAC/TTCAGA`	8	--	ng3¹		16	MN EU EA WA NS	2882
--	rs1971508^1,2	A,C,F	26193786(-)	`aggcgG/Taggtt`	9	--	ng5¹		5	NS	182
--	rs1061482^1,2	A,C,F	26194678(-)	`CTATAC/AACTTC`	9	--	ng5¹		5	NS	190
	rs1799945^1,2	C,F,H	26199158(+)	`ATGATC/GATGAG`	9	H/D	mis¹ int¹		22	MN CSAM EA EU WA NS	2106
	rs1800562^1,2	C,F,H	26201120(+)	`TACGTG/ACCAGG`	9	Y/C	mis¹ int¹ ese³		27	MN CSAM EA EU WA NA NS	2346
	rs4986950^1,2	C,F,H	26200925(+)	`TGTGAC/TCTCTT`	9	T/I	mis¹ int¹ ese³		10	MN CSAM EA EU WA	1002

About this table

HapMap Linkage Disequilibrium images for HFE (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 235200

UniProtKB/Swiss-Prot: HFE_HUMAN, Q30201

Defects in HFE are a cause of hereditary hemochromatosis (HH) [MIM:235200]. HH is an

autosomal recessive inborn disorder of iron metabolism. It is the most common recessive disease in

Caucasians. HH is characterized by abnormal intestinal iron absorption and progressive increase of

total body iron, which results in midlife in clinical complications including cirrhosis,

cardiopathy, diabetes, endocrine dysfunctions, arthropathy, and susceptibility to liver cancer.

Since the disease complications can be effectively prevented by regular phlebotomies, early

diagnosis is most important to provide a normal life expectancy to the affected subjects

Defects in HFE are a cause of porphyria variegata (PV) [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. PV 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

Defects in HFE are associated with susceptibility to diabetic nephropathy [MIM:612635];

also called susceptibility to microvascular complications of diabetes type 7 (MVCD7) or

susceptibility to diabetic proliferative retinopathy. Diabetic nephropathy is a kidney disease and

resultant kidney function impairment due to the long standing effects of diabetes on the

microvasculature (glomerulus) of the kidney. Features include increased urine protein and

declining kidney function

10/94 Novoseek disease relationships for HFE gene (see all 94 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
hereditary hemochromatosis	98.58	382	12547214 (4), 10349514 (3), 15280838 (3), 11358390 (3) (see all 99)
hemochromatosis	98.21	496	11358388 (6), 12949720 (5), 10772870 (4), 10403350 (3) (see all 99)
iron overload	97.49	348	12792703 (4), 9922318 (3), 10942923 (3), 11051367 (3) (see all 99)
hemochromatosis, juvenile	90.65	8	17540536 (1), 12547233 (1), 17951290 (1), 15710580 (1) (see all 7)
african iron overload	85.72	5	10989544 (1), 12382201 (1), 11722599 (1), 17335681 (1)
porphyria cutanea tarda	85.35	44	15280838 (5), 9551677 (5), 11427792 (3), 19001803 (2) (see all 24)
hemochromatosis, type 3	80.19	2	17298224 (1), 11778658 (1)
iron disorder	78.51	2	11960574 (1), 11358390 (1)
hyperferritinemia-cataract syndrome	71.93	1	16900584 (1)
cirrhosis	71.23	35	17101320 (2), 11500061 (2), 12003382 (2), 12865278 (2) (see all 28)

About this table

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

Human Gene Mutation Database: HFE
Genetic Association Database: HFE
Human Genome Epidemiology Navigator: HFE (482 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

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

10/1047 PubMed articles for HFE gene (see all 1047 ):

Role of hemochromatosis C282Y and H63D mutations in HFE gene in development of type 2 diabetes and diabetic nephropathy. (PubMed id 11423500)^{1, 3, 4, 6} Moczulski D.K....Gawlik B. (2001)
Crystal structure of the hereditary haemochromatosis protein HFE complexed with transferrin receptor. (PubMed id 10638746)^{1, 3, 4} 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, 3, 4} 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, 3, 4} Ka C.... Ferec C. (2005)
Hemochromatosis gene mutations and distal adenomatous colorectal polyps. (PubMed id 15668490)^{1, 3, 6} McGlynn K.A....Buetow K.H. (2005)
[Association of mutations of HFE gene and hepatocellular carcinoma following chronic hepatitis B] (PubMed id 16174459)^{1, 3, 6} 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, 3, 6} 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, 3, 6} 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, 3, 4} 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, 3, 4} 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, 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 ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
ATLAS Chromosomes in Cancer entry for HFE	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.genetests.org/query?gene=HFE

Licensable Technologies for HFE
(Available from WIS Yeda, Salk, Tufts)

About This Section

(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section

Products for HFE:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for HFE-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for HFE		Antibodies for HFE
	Explore super-pooled esiRNAs		Browse proteins at Sigma-Aldrich
	Lentivirus-delivered shRNAs for HFE		Browse small molecules at Sigma-Aldrich
	"Your Favorite Gene" Pathways		feedback

	Antibodies		Primer Pairs
	Cell Culture Products		ELISAs
	Flow Cytometry Kits		Protease Activity Assays & Reagents
	Cell Selection/Detection Kits & Reagents		ELISA/Assay Development Kits & Reagents
	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
	Recombinant & Natural Proteins

	Recombinant Proteins (HFE)
	Antibodies (HFE)
	Chimera RNAi (HFE)
	Custom Service for Mouse Mab
	Custom Service for Rabbit Pab from Full-length Protein

Search for Antibodies & Assays

	Recombinant Proteins (HFE)
	Antibodies (HFE)

Search OriGene for HFE

Search Tocris compounds for HFE

Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies

Antibodies for HFE

GeneCards Homepage - Last full update: 2 Jul 2009 Incremental update: 13 Oct 2009

Random Gene From GIFtS :

about GIFtS

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Developed at the Crown Human Genome Center & Weizmann Institute of Science

The GeneCards Human Gene Database: Copyright © 1996-2009, Weizmann Institute of Science. All Rights Reserved.
HFE Gene at Home site.
Version 2.41.1
server4.xennexinc.com

HFE Gene

protein-coding GIFtS: 62

Aliases &
Descriptions
for HFE

Summaries
for HFE

Genomic Location
for HFE

Proteins
for HFE

Protein Domains/
Families
for HFE

Gene Function
for HFE

Pathways & Interactions
for HFE

Drugs & Compounds
for HFE

Transcripts
for HFE

Expression
for HFE

Orthologs
for HFE

Paralogs
for HFE

SNPs/Variants
for HFE

Disorders & Mutations
for HFE

Medical News
for HFE

Publications
for HFE

Search for HFE

Genome Databases showing HFE

Other Databases showing HFE

Specialized Databases showing HFE

Licensable Technologies
for HFE

Services
for HFE

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

HFE Gene

protein-coding GIFtS: 62

Aliases & Descriptionsfor HFE

Summariesfor HFE

Genomic Locationfor HFE

Proteinsfor HFE

Protein Domains/Familiesfor HFE

Gene Functionfor HFE

Pathways & Interactionsfor HFE

Drugs & Compoundsfor HFE

Transcriptsfor HFE

Expression for HFE

Orthologsfor HFE

Paralogsfor HFE

SNPs/Variantsfor HFE

Disorders & Mutationsfor HFE

Medical Newsfor HFE

Publicationsfor HFE

Search for HFE

Genome Databases showing HFE

Other Databases showing HFE

Specialized Databases showing HFE

Licensable Technologiesfor HFE

Servicesfor HFE

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for HFE

Summaries
for HFE

Genomic Location
for HFE

Proteins
for HFE

Protein Domains/
Families
for HFE

Gene Function
for HFE

Pathways & Interactions
for HFE

Drugs & Compounds
for HFE

Transcripts
for HFE

Expression
for HFE

Orthologs
for HFE

Paralogs
for HFE

SNPs/Variants
for HFE

Disorders & Mutations
for HFE

Medical News
for HFE

Publications
for HFE

Licensable Technologies
for HFE

Services
for HFE