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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
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
Atlas of Genetics & Cytogenetics in Oncology &
Hematology: HFE
TFRC
Genetic
Association Database: Gene View
& Disease View
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
Expression Profiles: HFE TFRC
HAMP
SLC11A2
SLC40A1
PubMed Search Google Search Medline Plus
Hereditary Haemochromatosis:
Genes and Disease Gene Reviews
CDC NHGRI Iron Disorders Institute Wellcome
Trust
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:
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 unpublished data)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)
HAMP (Hepcidin,
HFE2B)
DMT1 (NRAMP2, SLC11A2)
HEPH (Hephaestin)
CYBRD1 (DCYTB)
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
Coding Region SNPs within the human HFE Gene (NCBI dbSNP Build 127)
|
Region |
Contig |
mRNA |
dbSNP rs# |
Hetero- |
Function |
dbSNP |
Protein |
Codon |
Amino acid |
|
exon_2 |
16949347 |
264 |
N.D. |
nonsynonymous |
C |
Thr [T] |
2 |
35 |
|
|
|
|
|
|
N.D. |
contig reference |
T |
Met [M] |
2 |
35 |
|
|
16949430 |
347 |
0.127 |
nonsynonymous |
G |
Asp [D] |
1 |
63 |
|
|
|
|
|
|
0.127 |
contig reference |
C |
His [H] |
1 |
63 |
|
|
16949436 |
353 |
N.D. |
nonsynonymous |
T |
Cys [C] |
1 |
65 |
|
|
|
|
|
|
N.D. |
contig reference |
A |
Ser [S] |
1 |
65 |
|
|
16949520 |
437 |
N.D. |
nonsynonymous |
C |
Arg [R] |
1 |
93 |
|
|
|
|
|
|
N.D. |
contig reference |
G |
Gly [G] |
1 |
93 |
|
|
16949557 |
474 |
N.D. |
nonsynonymous |
C |
Thr [T] |
2 |
105 |
|
|
|
|
|
|
N.D. |
contig reference |
T |
Ile [I] |
2 |
105 |
|
exon_3 |
16949833 |
541 |
N.D. |
nonsynonymous |
C |
His [H] |
3 |
127 |
|
|
|
|
|
|
N.D. |
contig reference |
A |
Gln [Q] |
3 |
127 |
|
exon_4 |
16951197 |
810 |
N.D. |
nonsynonymous |
T |
Ile [I] |
2 |
217 |
|
|
|
|
|
|
N.D. |
contig reference |
C |
Thr [T] |
2 |
217 |
|
|
16951392 |
1005 |
0.024 |
nonsynonymous |
A |
Tyr [Y] |
2 |
282 |
|
|
|
|
|
|
0.024 |
contig reference |
G |
Cys [C] |
2 |
282 |
|
exon_6 |
16952684 |
1186 |
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 |
mRNA |
dbSNP rs# |
Hetero- |
Function |
dbSNP |
Protein |
Codon |
Amino acid |
|
exon_1 |
16945872 |
113 |
N.D. |
untranslated |
C/G |
|
|
|
|
|
intron_1 |
16946107 |
|
N.D. |
intron |
A/T |
|
|
|
|
|
|
16946540 |
|
0.062 |
intron |
A/T |
|
|
|
|
|
|
16946658 |
|
0.138 |
intron |
A/G |
|
|
|
|
|
|
16947141 |
|
0.495 |
intron |
A/C |
|
|
|
|
|
|
16947349 |
|
0.463 |
intron |
C/T |
|
|
|
|
|
|
16947587 |
|
N.D. |
intron |
A/C |
|
|
|
|
|
|
16948521 |
|
N.D. |
intron |
G/T |
|
|
|
|
|
|
16948644 |
|
N.D. |
intron |
A/T |
|
|
|
|
|
|
16948703 |
|
N.D. |
intron |
C/T |
|
|
|
|
|
|
16949254 |
|
0.474 |
intron |
C/T |
|
|
|
|
|
exon_2 |
16949347 |
264 |
N.D. |
nonsynonymous |
C |
Thr [T] |
2 |
35 |
|
|
|
|
|
|
N.D. |
contig reference |
T |
Met [M] |
2 |
35 |
|
|
16949430 |
347 |
0.127 |
nonsynonymous |
G |
Asp [D] |
1 |
63 |
|
|
|
|
|
|
0.127 |
contig reference |
C |
His [H] |
1 |
63 |
|
|
16949436 |
353 |
N.D. |
nonsynonymous |
T |
Cys [C] |
1 |
65 |
|
|
|
|
|
|
N.D. |
contig reference |
A |
Ser [S] |
1 |
65 |
|
|
16949520 |
437 |