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General Information
- Evidence
- Gene
- mRNA
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- Protein
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- Enzyme
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- Structural
- Domain
- Ontology
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Evidence Information
| Pubmed ID | Year | Sample Information | Techniques | Mechanism | Fold Change | Remark |
|---|---|---|---|---|---|---|
| 23553028 | 2013 | Cell line : - Source : PubMed and Embase were retrieved to identify the potential literature. A total of eight papers including nine studies (7,588 colorectal cancer cases and 81,571 controls) . Sample Type : - No. of Sample : - Stage : - | Meta analysis | Polymorhpism | - | The current meta-analysis supported the positive association of HFE gene C282Y variant with colorectal cancer. |
Gene Details
| Gene Type | protein coding |
|---|---|
| Gene Family | Immunoglobulin superfamily / C1-set domain containing |
| Description | 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 |
| Location | 6p21.3 |
| Start | 26087422 |
| End | 26096438 |
| Strand | + |
| Gene Sequence | Download Select all |
| Length | 9017 |
| OMIM ID | 613609 |
| HGNC ID | HGNC:4886 |
| Unigene ID | Hs.233325 |
| Ensembl ID | ENSG00000010704 |
| PharmGKB ID | PA29263 |
mRNA Information
| mRNA ID | NM_000410.3 |
|---|---|
| Exon | join(1..236,3561..3824,4034..4309,5405..5680,5839..5952, 6906..7961) | mRNA Sequence | Download Select all |
| Length | 2222 |
Protein Information
| Protein ID | NP_000401.1 |
|---|---|
| Protein Name | hemochromatosis |
| Molecular Wt. (Da) | 0 |
| Protein Sequence | Download Select all |
| Length | 348 |
| Uniprot ID | P80098 |
| Ensembl Protein ID | ENSP00000367832 |
Post-translational Modification Information (Source : HPRD)
No matching records could be found.
Enzyme Information
No matching records could be found.
PPi Information
(Click to view network : Source STRING) View
| Interactant Gene ID (Source: HPRD) | Gene Symbol | HPRD ID | Ref Seq ID | Technique | References |
|---|---|---|---|---|---|
| 567 | B2M | 189 | NP_004039.1 | in vitro | 10791995 |
| 7037 | TFRC | 1812 | NP_003225.2 | in vitro;in vivo | 9465039 |
Pathway Information
No matching records could be found.
Structure Information
No matching records could be found.
Domain Information
| ID | Location | Description |
|---|---|---|
| cd07698 | 206-298 | IgC_MHC_I_alpha3 |
| cl11960 | 206-298 | Ig superfamily |
| pfam00129 | 27-202 | MHC_I |
| cl08246 | 27-202 | MHC_I superfamily |
| cd00098 | 208-298 | IgC |
| pfam07654 | 222-294 | C1-set |
| cd05766 | 217-299 | IgC_MHC_II_beta |
| smart00407 | 222-292 | IGc1 |
| cd05767 | 207-298 | IgC_MHC_II_alpha |
| cd05770 | 207-298 | IgC_beta2m |
| cd05771 | 188-293 | IgC_Tapasin_R |
| cd04985 | 208-295 | IgC_CH1 |
| cd00096 | 222-288 | Ig |
| cd07699 | 217-292 | IgC_L |
| cd05772 | 225-293 | IgC_SIRP |
| cd05847 | 217-290 | IgC_CH2_IgE |
| cd05768 | 222-290 | IgC_CH4 |
| cd05729 | 216-285 | Ig2_FGFR_like |
| PHA02865 | 41-245 | PHA02865 |
Ontology Information
| HPRD ID | 4784 |
|---|---|
| Molecular Class | Transport/cargo protein |
| Molecular Function | Chemokine activity (GO:0008009) |
| Biological Process | Cell communication (GO:0007154); Signal transduction (GO:0007165) |
Drug Information
No matching records could be found.