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HFE

'Hereditary Hemochromatosis Gene'

Gene ID: 3077; Protein ID: Q30201

M.Tevfik DORAK, MD PhD

Chromosome 6p21.3 location 26,195,427 - 26,205,046

NCBI Global Search

Entrez Gene OMIM NCBI BookShelf

NCBI Map Viewer (HFE)     NCBI Map Viewer (HFE & Histon Clusters)

dbSNP (all SNPs)    dbSNP (cSNPs only)    Map Viewer Variation View  (all SNPs)

Investigating the genetic basis of iron overload: Flash Tutorial on HFE Variation (click RUN)

Ensembl (isoform 16348)   Vega Ensembl Map GeneAtlas UCSC Browser

HapMap (isoform 1) 

SNP@Ethnos: HFE Diseasome: HFE MutDB: HFE

Atlas of Genetics & Cytogenetics in Oncology & Hematology:  HFE TFRC

Genetic Association Database: Gene View   &   Disease View

HugeNet Navigator: HFE TFRC

Human Genetic Mutations Database

Reference Sequences: Genomic mRNA Protein

GeneCards GeneNote UniGene GDB iHOP T1D T2D Dept of Energy EC Gene

UniProt / SwissProt Structure 1 Structure 2 HomoloGene HPRD AceView

Mouse Hfe

Expression Profiles: HFE TFRC HAMP SLC11A2 SLC40A1

DOE Genomics

PubMed Search Google Search Medline Plus

Hereditary Hemochromatosis:

Genes and Disease Gene Reviews CDC NHGRI Iron Disorders Institute Wellcome Trust

NHANES III Genetic Data: HFE

Comparative Toxicogenomic Database: Iron

Comparative Toxicogenomic Database: HFE; TFRC; HAMP; DMT1

NIH Genetic Association Database Search: HFE HAMP TFRC

NIH Genetic Association Database HFE Gene Expert: ID 710

Functional Analysis of SNPs:

SNPSeek: HFE HAMP TFRC

SNPs3D: HFE TFRC

SiPEP: HFE HAMP TFRC

FastSNP: HFE HAMP TFRC

ABI TaqMan Assays for HFE Region SNPs

Affymetrix 500K GeneChip Array Coverage of the HFE Gene (query):

rs16891264 (15kb upstream of HFE)     rs1800562 (C282Y)     rs707889 (IVS6)     rs2071303 (IVS2)*

* This IVS2 SNP is in LD with H63D in the British population (Dorak et al. unpublished data)

Other Iron-related Genes

HFE2 (HFE2A, HJV)

TFR2 (TFR2)

HFE4 (SLC40A1, Ferroportin, IREG1)

TFRC (TFR1, CD71)

TF LTF MFI2

HAMP (Hepcidin, HFE2B)

DMT1 (NRAMP2, SLC11A2), NRAMP1 (SLC11A1)

HEPH (Hephaestin)

CYBRD1 (DCYTB)

RRM1 RRM2 RRM2B

TMPRSS6

BMP6

SLC39A14 (ZIP14) 

Literature

Feder et al. Discovery of HFE. Nature Genet 1996

Hanson et al. Hereditary Hemochromatosis (HuGE Review). AJE 2001

Dorak et al. HFE and Childhood Leukaemia (HuGE Review). Genet Med 2005

Toomajian & Martin Kreitman. HFE Haplotype Structure. Genetics 2002

Swinkels et al. Hereditary Hemochromatosis, Clin Chem 2006

Mouse Hfe Literature

Coding Region SNPs within the human HFE Gene (NCBI dbSNP Build 127)

Region	Contig position	mRNA pos	dbSNP rs# cluster id	Hetero- zygosity	Function	dbSNP allele	Protein residue	Codon pos	Amino acid pos
exon_2	16949347	264	rs2242956	N.D.	nonsynonymous	C	Thr [T]	2	35
				N.D.	contig reference	T	Met [M]	2	35
	16949430	347	rs1799945	0.127	nonsynonymous	G	Asp [D]	1	63
				0.127	contig reference	C	His [H]	1	63
	16949436	353	rs1800730	N.D.	nonsynonymous	T	Cys [C]	1	65
				N.D.	contig reference	A	Ser [S]	1	65
	16949520	437	rs28934597	N.D.	nonsynonymous	C	Arg [R]	1	93
				N.D.	contig reference	G	Gly [G]	1	93
	16949557	474	rs28934596	N.D.	nonsynonymous	C	Thr [T]	2	105
				N.D.	contig reference	T	Ile [I]	2	105
exon_3	16949833	541	rs28934595	N.D.	nonsynonymous	C	His [H]	3	127
				N.D.	contig reference	A	Gln [Q]	3	127
exon_4	16951197	810	rs4986950	N.D.	nonsynonymous	T	Ile [I]	2	217
				N.D.	contig reference	C	Thr [T]	2	217
	16951392	1005	rs1800562	0.024	nonsynonymous	A	Tyr [Y]	2	282
				0.024	contig reference	G	Cys [C]	2	282
exon_6	16952684	1186	rs35201683	0.053	synonymous	T	Tyr [Y]	3	342
				0.053	contig reference	C	Tyr [Y]	3	342

All SNPs within the human HFE Gene (NCBI dbSNP Build 127)

Region	Contig position	mRNA pos	dbSNP rs# cluster id	Hetero- zygosity	Function	dbSNP allele	Protein residue	Codon pos	Amino acid pos
exon_1	16945872	113	rs41266793	N.D.	untranslated	C/G
intron_1	16946107		rs2858993	N.D.	intron	A/T
	16946540		rs807206	0.062	intron	A/T
	16946658		rs3799374	0.138	intron	A/G
	16947141		rs2794719	0.495	intron	A/C
	16947349		rs9366637	0.463	intron	C/T
	16947587		rs807207	N.D.	intron	A/C
	16948521		rs34555420	N.D.	intron	G/T
	16948644		rs2858994	N.D.	intron	A/T
	16948703		rs13196986	N.D.	intron	C/T
	16949254		rs2227837	0.474	intron	C/T
exon_2	16949347	264	rs2242956	N.D.	nonsynonymous	C	Thr [T]	2	35
				N.D.	contig reference	T	Met [M]	2	35
	16949430	347	rs1799945	0.127	nonsynonymous	G	Asp [D]	1	63
				0.127	contig reference	C	His [H]	1	63
	16949436	353	rs1800730	N.D.	nonsynonymous	T	Cys [C]	1	65
				N.D.	contig reference	A	Ser [S]	1	65
	16949520	437	rs28934597	N.D.	nonsynonymous	C	Arg [R]	1	93
				N.D.	contig reference	G	Gly [G]	1	93
	16949557	474	rs28934596	N.D.	nonsynonymous	C	Thr [T]	2	105
				N.D.	contig reference	T	Ile [I]	2	105
intron_2	16949587		rs2071303	0.500	intron	A/G
exon_3	16949833	541	rs28934595	N.D.	nonsynonymous	C	His [H]	3	127
				N.D.	contig reference	A	Gln [Q]	3	127
intron_3	16950099		rs2227838	0.284	intron	C/T
	16950398		rs807208	N.D.	intron	A/G
	16950421		rs2032451	N.D.	intron	A/C
	16950675		rs34225963	N.D.	intron	-/A
	16951116		rs807209	0.242	intron	C/G
exon_4	16951197	810	rs4986950	N.D.	nonsynonymous	T	Ile [I]	2	217
				N.D.	contig reference	C	Thr [T]	2	217
	16951392	1005	rs1800562	0.024	nonsynonymous	A	Tyr [Y]	2	282
				0.024	contig reference	G	Cys [C]	2	282
intron_4	16951487		rs1800758	0.027	intron	A/G
	16951548		rs2794717	N.D.	intron	C/T
	16951554		rs1800708	0.443	intron	C/T
intron_5	16952277		rs2858996	0.236	intron	G/T
	16952381		rs2071302	N.D.	intron	A/G
	16952618		rs1572982	0.357	intron	A/G
exon_6	16952684	1186	rs35201683	0.053	synonymous	T	Tyr [Y]	3	342
				0.053	contig reference	C	Tyr [Y]	3	342
	16953220	1722	rs3177318	N.D.	untranslated	C/T
	16953279	1781	rs1045533	0.020	untranslated	A/G

Other SNPs within the flanking regions of human HFE Gene

(NCBI dbSNP Build 127)

Contig Label	Contig Accession	Contig position	dbSNP rs# cluster id	Hetero- zygosity
reference	NT_007592	16944028 (5’)	rs1971509	N.D.
reference	NT_007592	16944058 (5’)	rs1971508	N.D.
reference	NT_007592	16944060 (5’)	rs7741769	N.D.
reference	NT_007592	16944268 (5’)	rs2006736	0.496
reference	NT_007592	16944666 (5’)	rs35646118	N.D.
reference	NT_007592	16944714 (5’)	rs1800702	0.500
reference	NT_007592	16944950 (5’)	rs1061482	N.D.
reference	NT_007592	16945453 (5’)	rs2794720	N.D.
reference	NT_007592	16955445 (3’)	rs17596719	0.097
reference	NT_007592	16955635 (3’)	rs6918586	0.476

M.Tevfik DORAK, MD PhD

Last updated on 26 December 2010

http://www.dorak.info

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