TFR2 (transferrin receptor 2)

2010-01-01  

Identity

HGNC
TFR2
LOCATION
7q22.1
LOCUSID
7036
ALIAS
HFE3,TFRC2

Other Information

Locus ID:

NCBI: 7036
MIM: 604720
HGNC: 11762
Ensembl: ENSG00000106327

Variants:

dbSNP: 7036
ClinVar: 7036
TCGA: ENSG00000106327
COSMIC: TFR2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000106327ENST00000223051Q9UP52
ENSG00000106327ENST00000431692E7ET36
ENSG00000106327ENST00000462107Q9UP52
ENSG00000106327ENST00000490084H7C544

Expression (GTEx)

0
50
100
150
200
250
300
350
400
450
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
198620102009Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.169
154860692005Hepcidin is decreased in TFR2 hemochromatosis.118
192545672009Interaction of the hereditary hemochromatosis protein HFE with transferrin receptor 2 is required for transferrin-induced hepcidin expression.111
168938962006Hereditary hemochromatosis protein, HFE, interaction with transferrin receptor 2 suggests a molecular mechanism for mammalian iron sensing.105
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
121340602002Targeted mutagenesis of the murine transferrin receptor-2 gene produces hemochromatosis.64
153192902004Diferric transferrin regulates transferrin receptor 2 protein stability.64
227288732012The hemochromatosis proteins HFE, TfR2, and HJV form a membrane-associated protein complex for hepcidin regulation.62
153192762004Regulation of transferrin receptor 2 protein levels by transferrin.56
192509662009A novel transferrin/TfR2-mediated mitochondrial iron transport system is disrupted in Parkinson's disease.54

Citation

Dessen P

TFR2 (transferrin receptor 2)

Atlas Genet Cytogenet Oncol Haematol. 2010-01-01

Online version: http://atlasgeneticsoncology.org/gene/51246/tfr2