TFR2 Gene Summary [Human]

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]

Details

Type
Protein Coding
Official Symbol
TFR2
Official Name
transferrin receptor 2 [Source:HGNC Symbol;Acc:HGNC:11762]
Ensembl ID
ENSG00000106327
Bio databases IDs NCBI: 7036 Ensembl: ENSG00000106327
Aliases transferrin receptor 2
Synonyms HFE3, TFRC2, TR2, transferrin receptor 2, Trfr2
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human TFR2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • extracellular domain
  • Zinc peptidases M18, M20, M28, and M42
  • cytoplasmic domain
  • PA
  • ectodomain
  • transmembrane domain
  • Transferrin receptor-like dimerization domain
  • transferrin receptor
  • protein binding
  • Peptidase family M28
  • transporter

Pathways

Biological processes and signaling networks where the TFR2 gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • schizophrenia
  • gastroesophageal reflux
  • hypochromia
  • hereditary hemochromatosis
  • hereditary hemochromatosis type 3
  • Burkitt lymphoma
  • anemia
  • colorectal cancer
  • hemochromatosis
  • survival
regulated by
regulates
role in cell
  • expression in
  • apoptosis
  • quantity
  • number
  • production in
  • differentiation
  • colony formation
  • response by
  • endocytosis by
  • homeostasis in

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Plasma Membrane
  • Cytoplasm
  • cell surface
  • cell borders
  • cellular membrane
  • Endoplasmic Reticulum
  • plasma membrane extracellular face
  • basolateral membrane
  • perinuclear space
  • cytoplasmic vesicles

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human TFR2 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • cellular iron ion homeostasis
  • multicellular organismal iron ion homeostasis
  • transferrin transport
  • positive regulation of endocytosis
  • iron ion transport
  • positive regulation of peptide hormone secretion
  • response to iron ion
  • positive regulation of transcription from RNA polymerase II promoter
  • acute-phase response
  • cellular response to iron ion
  • receptor-mediated endocytosis

Cellular Component

Where in the cell the gene product is active
  • external side of plasma membrane
  • cytoplasmic vesicle
  • plasma membrane

Molecular Function

What the gene product does at the molecular level
  • transferrin receptor activity
  • protein binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.