TFR2 Chromosome 7
Transferrin receptor 2
Upload your DNA to see your personal genotypes for variants in TFR2.
What This Gene Does
This gene encodes a single-pass type II membrane protein, which is a member of the transferrin receptor-like family. This protein mediates cellular uptake of transferrin-bound iron, and may be involved in iron metabolism, hepatocyte function and erythrocyte differentiation. Mutations in this gene have been associated with hereditary hemochromatosis type III. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2011]
Gene Info
Gene Group
M28 metallopeptidases
Locus Type
gene with protein product
Location
7q22.1
Ensembl
ENSG00000106327
Associated Conditions (27)
Hemochromatosis type 3
Hereditary hemochromatosis
TFR2-related disorder
Colorectal cancer
Gastric cancer
Melanoma
Cervical cancer
Lymphoma
Ovarian serous cystadenocarcinoma
Uterine carcinosarcoma
Uterine corpus endometrial carcinoma
Thymoma
Malignant lymphoma
large B-cell
diffuse
Ovarian cancer
Colon adenocarcinoma
Sarcoma
Malignant tumor of urinary bladder
Familial cancer of breast
+7 more conditions
Key Variants
RS1170988281
Conflicting classifications of pathogenicity
Hemochromatosis type 3, Hereditary hemochromatosis, Hemochromatosis type 3
Health Risk
RS1253038033
Conflicting classifications of pathogenicity
Hemochromatosis type 3, Hemochromatosis type 3
Health Risk
RS1262970273
Conflicting classifications of pathogenicity
Hemochromatosis type 3, Hereditary hemochromatosis, Hemochromatosis type 3
Health Risk
RS1302587036
Conflicting classifications of pathogenicity
Hemochromatosis type 3, Hereditary hemochromatosis, Hemochromatosis type 3
Health Risk
RS139178017
Conflicting classifications of pathogenicity
Hereditary hemochromatosis, Hemochromatosis type 3, TFR2-related disorder
Health Risk
RS139383159
Conflicting classifications of pathogenicity
Hemochromatosis type 3, Inborn genetic diseases, Hereditary hemochromatosis
Health Risk
RS139984206
Conflicting classifications of pathogenicity
Inborn genetic diseases, Hereditary hemochromatosis, Inborn genetic diseases
Health Risk
RS140020076
Conflicting classifications of pathogenicity
Hemochromatosis type 3, Hereditary hemochromatosis, Hemochromatosis type 3
Health Risk
RS141140309
Conflicting classifications of pathogenicity
Hereditary hemochromatosis, Hemochromatosis type 3, Hereditary hemochromatosis
Health Risk
RS144665594
Conflicting classifications of pathogenicity
Hereditary hemochromatosis, Hemochromatosis type 3, TFR2-related disorder
Health Risk
RS144917130
Conflicting classifications of pathogenicity
Hemochromatosis type 3, Hereditary hemochromatosis, Hemochromatosis type 3
Health Risk
RS145795884
Conflicting classifications of pathogenicity
Hemochromatosis type 3, Hereditary hemochromatosis, Hemochromatosis type 3
Health Risk
All Variants (183)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1224612016 | Health Risk | Likely pathogenic | Hemochromatosis type 3, Hemochromatosis type 3 |
| RS1320849993 | Health Risk | Likely pathogenic | Hemochromatosis type 3, Ovarian serous cystadenocarcinoma, Hemochromatosis type 3 |
| RS1389208146 | Health Risk | Likely pathogenic | Hereditary hemochromatosis, Hereditary hemochromatosis |
| RS1562845204 | Health Risk | Likely pathogenic | Hereditary hemochromatosis, Hereditary hemochromatosis |
| RS1584460907 | Health Risk | Likely pathogenic | Hereditary hemochromatosis, Hereditary hemochromatosis |
| RS1803316195 | Health Risk | Likely pathogenic | Hereditary hemochromatosis, Hereditary hemochromatosis |
| RS1803359971 | Health Risk | Likely pathogenic | Hemochromatosis type 3, Hemochromatosis type 3 |
| RS1803411479 | Health Risk | Likely pathogenic | Hereditary hemochromatosis, Hereditary hemochromatosis |
| RS1803445521 | Health Risk | Likely pathogenic | Hemochromatosis type 3, Hemochromatosis type 3 |
| RS1803693127 | Health Risk | Likely pathogenic | Hemochromatosis type 3, Hereditary hemochromatosis, Hemochromatosis type 3 |
| RS2131304244 | Health Risk | Likely pathogenic | Hereditary hemochromatosis, Hereditary hemochromatosis |
| RS2131311231 | Health Risk | Likely pathogenic | Hemochromatosis type 3, Hemochromatosis type 3 |
| RS2131312371 | Health Risk | Likely pathogenic | Hereditary hemochromatosis, Hemochromatosis type 3, Hereditary hemochromatosis |
| RS2131313564 | Health Risk | Likely pathogenic | Hereditary hemochromatosis, Hereditary hemochromatosis |
| RS2131318647 | Health Risk | Likely pathogenic | Hereditary hemochromatosis, Hereditary hemochromatosis |
| RS2131318652 | Health Risk | Likely pathogenic | Hereditary hemochromatosis, Hereditary hemochromatosis |
| RS2131320006 | Health Risk | Likely pathogenic | Hereditary hemochromatosis, Hereditary hemochromatosis |
| RS2131320942 | Health Risk | Likely pathogenic | Hereditary hemochromatosis, Hereditary hemochromatosis |
| RS2486102241 | Health Risk | Likely pathogenic | Hemochromatosis type 3, Hemochromatosis type 3 |
| RS2486102603 | Health Risk | Likely pathogenic | Hemochromatosis type 3, Hemochromatosis type 3 |
| RS2486114662 | Health Risk | Likely pathogenic | Hemochromatosis type 3, Hemochromatosis type 3 |
| RS2486115109 | Health Risk | Likely pathogenic | Hemochromatosis type 3, Hemochromatosis type 3 |
| RS2486116981 | Health Risk | Likely pathogenic | Hemochromatosis type 3, Hemochromatosis type 3 |
| RS2486117269 | Health Risk | Likely pathogenic | Hemochromatosis type 3, Hemochromatosis type 3 |
| RS2486117732 | Health Risk | Likely pathogenic | Hemochromatosis type 3, Hemochromatosis type 3 |
| RS2486118586 | Health Risk | Likely pathogenic | Hemochromatosis type 3, Hemochromatosis type 3 |
| RS2486118857 | Health Risk | Likely pathogenic | Hemochromatosis type 3, Hemochromatosis type 3 |
| RS2486123093 | Health Risk | Likely pathogenic | Hemochromatosis type 3, Hemochromatosis type 3 |
| RS2486123194 | Health Risk | Likely pathogenic | Hemochromatosis type 3, Hemochromatosis type 3 |
| RS2486128952 | Health Risk | Likely pathogenic | Hemochromatosis type 3, Hemochromatosis type 3 |
| RS2486129744 | Health Risk | Likely pathogenic | Hemochromatosis type 3, Hemochromatosis type 3 |
| RS2486133638 | Health Risk | Likely pathogenic | Hemochromatosis type 3, Hemochromatosis type 3 |
| RS2486133745 | Health Risk | Likely pathogenic | Hemochromatosis type 3, Hemochromatosis type 3 |
| RS2486133805 | Health Risk | Likely pathogenic | Hemochromatosis type 3, Hemochromatosis type 3 |
| RS2486133812 | Health Risk | Likely pathogenic | Hereditary hemochromatosis, Hereditary hemochromatosis |
| RS2486134386 | Health Risk | Likely pathogenic | Hemochromatosis type 3, Hemochromatosis type 3 |
| RS2486146751 | Health Risk | Likely pathogenic | Hereditary hemochromatosis, Hereditary hemochromatosis |
| RS2486146809 | Health Risk | Likely pathogenic | Hemochromatosis type 3, Hemochromatosis type 3 |
| RS2486146890 | Health Risk | Likely pathogenic | Hemochromatosis type 3, Hemochromatosis type 3 |
| RS2486147571 | Health Risk | Likely pathogenic | Hemochromatosis type 3, Hemochromatosis type 3 |
| RS2486147617 | Health Risk | Likely pathogenic | Hemochromatosis type 3, Hemochromatosis type 3 |
| RS2486147890 | Health Risk | Likely pathogenic | Hemochromatosis type 3, Hemochromatosis type 3 |
| RS2486148819 | Health Risk | Likely pathogenic | Hemochromatosis type 3, Hemochromatosis type 3 |
| RS556553563 | Health Risk | Likely pathogenic | Hemochromatosis type 3, Hemochromatosis type 3 |
| RS756989018 | Health Risk | Likely pathogenic | Hereditary hemochromatosis, Hemochromatosis type 3, Hereditary hemochromatosis |
| RS762648897 | Health Risk | Likely pathogenic | Hereditary hemochromatosis, Hereditary hemochromatosis |
| RS773320398 | Health Risk | Likely pathogenic | Hereditary hemochromatosis, Hereditary hemochromatosis |
| RS774862156 | Health Risk | Likely pathogenic | Hereditary hemochromatosis, Hemochromatosis type 3, Hereditary hemochromatosis |
| RS779594895 | Health Risk | Likely pathogenic | Hemochromatosis type 3, Hemochromatosis type 3 |
| RS786204108 | Health Risk | Likely pathogenic | Hereditary hemochromatosis, Hemochromatosis type 3, Hereditary hemochromatosis |