Seroatlas · Human Serome Atlas

TFR2

Transferrin receptor protein 2

Also known as: HFE3, TFR2_HUMAN, TFRC2

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q9UP52
Gene
TFR2
Ensembl
ENSG00000106327
Chromosome
7
Canonical length
801 aa
Protein class
Disease related genes, Enzymes, FDA approved drug targets, Human disease related genes, Plasma proteins, Predicted membrane proteins, Transporters
Subcellular location
Golgi apparatus
Quaternary structure
Homodimer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

801 residues, UniProt reviewed canonical sequence.

>Q9UP52|TFR2
     1  MERLWGLFQR AQQLSPRSSQ TVYQRVEGPR KGHLEEEEED GEEGAETLAH FCPMELRGPE
    61  PLGSRPRQPN LIPWAAAGRR AAPYLVLTAL LIFTGAFLLG YVAFRGSCQA CGDSVLVVSE
   121  DVNYEPDLDF HQGRLYWSDL QAMFLQFLGE GRLEDTIRQT SLRERVAGSA GMAALTQDIR
   181  AALSRQKLDH VWTDTHYVGL QFPDPAHPNT LHWVDEAGKV GEQLPLEDPD VYCPYSAIGN
   241  VTGELVYAHY GRPEDLQDLR ARGVDPVGRL LLVRVGVISF AQKVTNAQDF GAQGVLIYPE
   301  PADFSQDPPK PSLSSQQAVY GHVHLGTGDP YTPGFPSFNQ TQFPPVASSG LPSIPAQPIS
   361  ADIASRLLRK LKGPVAPQEW QGSLLGSPYH LGPGPRLRLV VNNHRTSTPI NNIFGCIEGR
   421  SEPDHYVVIG AQRDAWGPGA AKSAVGTAIL LELVRTFSSM VSNGFRPRRS LLFISWDGGD
   481  FGSVGSTEWL EGYLSVLHLK AVVYVSLDNA VLGDDKFHAK TSPLLTSLIE SVLKQVDSPN
   541  HSGQTLYEQV VFTNPSWDAE VIRPLPMDSS AYSFTAFVGV PAVEFSFMED DQAYPFLHTK
   601  EDTYENLHKV LQGRLPAVAQ AVAQLAGQLL IRLSHDRLLP LDFGRYGDVV LRHIGNLNEF
   661  SGDLKARGLT LQWVYSARGD YIRAAEKLRQ EIYSSEERDE RLTRMYNVRI MRVEFYFLSQ
   721  YVSPADSPFR HIFMGRGDHT LGALLDHLRL LRSNSSGTPG ATSSTGFQES RFRRQLALLT
   781  WTLQGAANAL SGDVWNIDNN F

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TFR2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Cell surface
Secreted
No
Transmembrane segments
1
Mean surface accessibility (rSASA)
0.28
Highest tissue expression
314 nTPM

Expression across tissuesHPA

Tissue

  • liver: 314 nTPM
  • bone marrow: 21 nTPM
  • stomach: 5.8 nTPM
  • cerebellum: 3.1 nTPM
  • gallbladder: 1.1 nTPM
  • spleen: 0.7 nTPM

Single-cell type

  • hepatocytes: 531 nCPM
  • erythrocyte progenitors: 236 nCPM
  • megakaryocyte-erythroid progenitors: 126 nCPM
  • early spermatids: 68 nCPM
  • parietal cells: 48 nCPM
  • megakaryocyte progenitors: 41 nCPM

Immune cell

  • basophil: 2.5 nTPM
  • eosinophil: 1.9 nTPM
  • classical monocyte: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM
  • MAIT T-cell: 0 nTPM

Brain region

  • cerebellum: 1.9 nTPM
  • cerebral cortex: 1.1 nTPM
  • white matter: 1 nTPM
  • hippocampal formation: 0.8 nTPM
  • amygdala: 0.7 nTPM
  • basal ganglia: 0.7 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TFR2.

Disease | AllUniProt

Conditions TFR2 is implicated in, by any mechanism.

Disease | GeneticClinVar

177 pathogenic / likely-pathogenic of 1,185 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.77
gnomAD pLI
0
gnomAD missense Z
1.15
DepMap mean gene effect
-0.06
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads TFR2 as an antibody target. Whether an autoantibody or antibody against TFR2 could matter depends on whether native TFR2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

TFR2 is annotated at the cell surface, where native TFR2 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label TFR2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/TFR2. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

© 2026 · Seroatlas, Discover Oregon LLC · Terms of use

Loading the interactive Seroatlas protein explorer...