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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]
HFE (Homeostatic Iron Regulator) is a Protein Coding gene. Diseases associated with HFE include Hemochromatosis, Type 1 and Transferrin Serum Level Quantitative Trait Locus 2. Among its related pathways are Hfe effect on hepcidin production. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and peptide antigen binding. An important paralog of this gene is HLA-A.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005102 | signaling receptor binding | IPI | 10638746 |
GO:0005515 | protein binding | IPI | 15880641 |
GO:0030881 | beta-2-microglobulin binding | IPI | 9465039 |
GO:0039706 | co-receptor binding | IPI | 22728873 |
GO:0042605 | NOT peptide antigen binding | IDA, IKR | 8696333 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005615 | extracellular space | IBA,IDA | 21173098 |
GO:0005623 | cell | IEA | -- |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005769 | early endosome | IDA | 15880641 |
GO:0005886 | plasma membrane | IDA,TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Hfe effect on hepcidin production |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001916 | positive regulation of T cell mediated cytotoxicity | IBA | -- |
GO:0002474 | NOT antigen processing and presentation of peptide antigen via MHC class I | IKR | 8696333 |
GO:0002476 | antigen processing and presentation of endogenous peptide antigen via MHC class Ib | IBA | -- |
GO:0002626 | negative regulation of T cell antigen processing and presentation | IEA | -- |
GO:0002725 | negative regulation of T cell cytokine production | IGI | 24643698 |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | · | 5c | ^ | 6 | ^ | 7a | · | 7b | · | 7c | · | 7d |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||||||||||
SP3: | - | - | - | ||||||||||||||||||||||||||||
SP4: | - | - | - | ||||||||||||||||||||||||||||
SP5: | - | - | - | ||||||||||||||||||||||||||||
SP6: | - | - | - | - | |||||||||||||||||||||||||||
SP7: | - | - | - | - | |||||||||||||||||||||||||||
SP8: | - | - | - | - | - | ||||||||||||||||||||||||||
SP9: | - | - | - | - | - | ||||||||||||||||||||||||||
SP10: | - | ||||||||||||||||||||||||||||||
SP11: | - | - | - | - | - | - | - |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | HFE 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | HFE 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | HFE 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Hfe 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Hfe 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | HFE 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
ManyToMany | |
Chicken (Gallus gallus) |
Aves | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
BFIV21 31 |
|
ManyToMany | |||
BF1 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
696716 | Likely Benign: not provided | 26,087,491(+) | C/T | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
696903 | Likely Benign: not provided | 26,091,387(+) | C/T | SYNONYMOUS_VARIANT,INTRON_VARIANT | |
698047 | Likely Benign: not provided | 26,090,852(+) | C/T | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,INTRON_VARIANT | |
700103 | Likely Benign: not provided | 26,092,704(+) | G/C | SYNONYMOUS_VARIANT,INTRON_VARIANT | |
700798 | Likely Benign: not provided | 26,092,821(+) | C/T | SYNONYMOUS_VARIANT,INTRON_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv5926n100 | CNV | gain | 25217958 |
nsv1023453 | CNV | gain | 25217958 |
nsv428137 | CNV | loss | 18775914 |
Disorder | Aliases | PubMed IDs |
---|---|---|
hemochromatosis, type 1 |
|
|
transferrin serum level quantitative trait locus 2 |
|
|
microvascular complications of diabetes 7 |
|
|
variegate porphyria |
|
|
porphyria cutanea tarda |
|