HFE

GENE INFORMATION

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Gene name

HFE (HGNC Symbol)

Synonyms

HLA-H

Description

Hemochromatosis (HGNC Symbol)

Entrez gene summary

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]

Chromosome

6

Cytoband

p22.2

Chromosome location (bp)

26087281 - 26098343

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000010704 (version 78.38)

Entrez gene

3077

UniProt

Q30201 (UniProt - Evidence at protein level)

neXtProt

NX_Q30201

Antibodypedia

HFE antibodies
 

PROTEIN VIEW

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 « 
 
HFE-001
 
HFE-003
 
HFE-004
 
HFE-005
 
HFE-006
 
HFE-007
 
HFE-011
 
HFE-012
 
HFE-014
 
HFE-015
 
HFE-019
 
HFE-024
 
 » 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

HFE-001 ENSP00000417404
ENST00000357618
Q30201
Show all »
Show » Show » 348 40.1 Yes 1
HFE-003 ENSP00000315936
ENST00000352392
Q30201
Show all »
Show » Show » 76 8.2 Yes 1
HFE-004 ENSP00000259699
ENST00000349999
Q30201
Show all »
Show » Show » 260 29.6 Yes 1
HFE-005 ENSP00000380217
ENST00000397022
Q30201
Show all »
Show » Show » 325 37.5 Yes 1
HFE-006 ENSP00000313776
ENST00000317896
Q30201
Show all »
Show » Show » 256 29.2 Yes 1
HFE-007 ENSP00000312342
ENST00000353147
Q30201
Show all »
Show » Show » 168 18.7 Yes 1
HFE-011 ENSP00000419725
ENST00000470149
Q6B0J5
Show all »
Show » Show » 345 39.7 Yes 1
HFE-012 ENSP00000337819
ENST00000336625
Q30201
Show all »
Show » Show » 242 27.7 Yes 1
HFE-014 ENSP00000420802
ENST00000461397
Q30201
Show all »
Show » Show » 334 38.6 Yes 1
HFE-015 ENSP00000420559
ENST00000488199
Q30201
Show all »
Show » Show » 246 28.2 Yes 1
HFE-019 ENSP00000311698
ENST00000309234
F8W7W8
Show all »
Show » Show » 337 38.9 Yes 1
HFE-024 ENSP00000417534
ENST00000485729
H7C4K4
Show all »
Show » 55 6 No 1