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Primary topic: TFR2 gene DNA analysis

TFR2 Gene and Metabolism: What It Can Mean in a Pathway Report

TFR2 becomes more useful when iron handling looks like a meaningful follow-up area instead of just background context.

What is the TFR2 gene?

TFR2 contributes to iron sensing and transport signaling. That makes it more useful as part of a pathway view than as an isolated SNP call.

How TFR2 affects metabolism

If TFR2-related support is less favorable, the pathway can look more pressured under load and the linked biomarkers become more useful to validate directly.

What happens when TFR2 is altered

An altered TFR2 pattern does not diagnose anything on its own, but it does change which follow-up markers deserve attention first.

Curated SNP evidence for TFR2

These SNPs come from the approved study-level evidence model. Each claim is scored from curated study rows, then gated before it can influence pathway scoring.

Iron handling

Evidence-backed report connection

TFR2 currently has 3 curated SNPs, 10 claim-level scores, and 2 claims eligible for pathway scoring.

Open the sample report
rs2075674TFR2 supporting signal3 claims · 9 study rows

unknown · AA

TFR2 unscored target

Not used for pathway scoring

rs2075674 AA has no scored directional claim for TFR2 unscored target.

TFR2 rs2075674 is kept neutral because available public evidence does not support a reliable end-user genotype effect for enzyme activity, transport activity, expression, or a metabolomics biomarker tendency.

Likely effectNo clear DNA signal
Signal sizeMinimal signal
Evidence supportVery limited support
Report useEvidence only, not scored
Show study evidence
NCBI RefSNP recordidentity only · unknownNCBI RefSNP places rs2075674 at TFR2 and lists common G and A allele labels on the current genomic placement. The record supports the genotype labels used here but does not by itself establish a user-facing functional effect.ClinVar recordclinical curation · close proxyClinVar describes the TFR2 transcript change for rs2075674 as a synonymous p.Ala617= variant and aggregates it as benign. This supports a neutral interpretation rather than a disease or iron-status prediction from this SNP alone.PMC3933306biomarker association · loose proxyA case-control study examined rs2075674 in age-related macular degeneration, but the findings were context-specific and not a direct demonstration of altered TFR2 activity or a reliable iron biomarker effect. This supports keeping the simplified record neutral.

unknown · AG

TFR2 unscored target

Not used for pathway scoring

rs2075674 AG has no scored directional claim for TFR2 unscored target.

TFR2 rs2075674 is kept neutral because available public evidence does not support a reliable end-user genotype effect for enzyme activity, transport activity, expression, or a metabolomics biomarker tendency.

Likely effectNo clear DNA signal
Signal sizeMinimal signal
Evidence supportVery limited support
Report useEvidence only, not scored
Show study evidence
NCBI RefSNP recordidentity only · unknownNCBI RefSNP places rs2075674 at TFR2 and lists common G and A allele labels on the current genomic placement. The record supports the genotype labels used here but does not by itself establish a user-facing functional effect.ClinVar recordclinical curation · close proxyClinVar describes the TFR2 transcript change for rs2075674 as a synonymous p.Ala617= variant and aggregates it as benign. This supports a neutral interpretation rather than a disease or iron-status prediction from this SNP alone.PMC3933306biomarker association · loose proxyA case-control study examined rs2075674 in age-related macular degeneration, but the findings were context-specific and not a direct demonstration of altered TFR2 activity or a reliable iron biomarker effect. This supports keeping the simplified record neutral.

unknown · GG

TFR2 unscored target

Not used for pathway scoring

rs2075674 GG has no scored directional claim for TFR2 unscored target.

TFR2 rs2075674 is kept neutral because available public evidence does not support a reliable end-user genotype effect for enzyme activity, transport activity, expression, or a metabolomics biomarker tendency.

Likely effectNo clear DNA signal
Signal sizeMinimal signal
Evidence supportVery limited support
Report useEvidence only, not scored
Show study evidence
NCBI RefSNP recordidentity only · unknownNCBI RefSNP places rs2075674 at TFR2 and lists common G and A allele labels on the current genomic placement. The record supports the genotype labels used here but does not by itself establish a user-facing functional effect.ClinVar recordclinical curation · close proxyClinVar describes the TFR2 transcript change for rs2075674 as a synonymous p.Ala617= variant and aggregates it as benign. This supports a neutral interpretation rather than a disease or iron-status prediction from this SNP alone.PMC3933306biomarker association · loose proxyA case-control study examined rs2075674 in age-related macular degeneration, but the findings were context-specific and not a direct demonstration of altered TFR2 activity or a reliable iron biomarker effect. This supports keeping the simplified record neutral.
rs7385804TFR2 supporting signal6 claims · 18 study rows

biomarker tendency · AA

TFR2 biomarker tendency

Moderate

rs7385804 AA is associated with increased TFR2 biomarker tendency.

For common A/C calls, rs7385804 is scored as a small tendency toward higher serum iron with more A copies: AA strongest, AC intermediate, and CC not scored as increased.

Likely effectHigher biomarker tendency
Signal sizeSmall signal
Evidence supportModerate support
Report useIncluded in pathway scoring
Show study evidence
NCBI RefSNP recordidentity only · unknownNCBI RefSNP places rs7385804 in TFR2 and lists A, C, and a rare G observation for this marker. The common A/C contrast is the source-supported comparison used for the scored genotypes.PubMed 21208937gwas · loose proxyA genome-wide study of iron markers identified rs7385804 in TFR2 as associated with serum iron levels, with the A allele associated with a small increase in serum iron in an additive model. The study also reported association with TFR2 mRNA expression in human liver samples.PubMed 27332551biomarker association · close proxyAn independent study of iron-related genes in populations of African ancestry discussed rs7385804 in TFR2 among iron-homeostasis variants, supporting that this marker belongs in an iron-biomarker context while keeping the effect interpretation conservative.

biomarker tendency · AC

TFR2 biomarker tendency

Not used for pathway scoring

rs7385804 AC is associated with increased TFR2 biomarker tendency.

For common A/C calls, rs7385804 is scored as a small tendency toward higher serum iron with more A copies: AA strongest, AC intermediate, and CC not scored as increased.

Likely effectHigher biomarker tendency
Signal sizeSmall signal
Evidence supportModerate support
Report useEvidence only, not scored
Show study evidence
NCBI RefSNP recordidentity only · unknownNCBI RefSNP places rs7385804 in TFR2 and lists A, C, and a rare G observation for this marker. The common A/C contrast is the source-supported comparison used for the scored genotypes.PubMed 21208937gwas · loose proxyA genome-wide study of iron markers identified rs7385804 in TFR2 as associated with serum iron levels, with the A allele associated with a small increase in serum iron in an additive model. The study also reported association with TFR2 mRNA expression in human liver samples.PubMed 27332551biomarker association · close proxyAn independent study of iron-related genes in populations of African ancestry discussed rs7385804 in TFR2 among iron-homeostasis variants, supporting that this marker belongs in an iron-biomarker context while keeping the effect interpretation conservative.

biomarker tendency · AG

TFR2 biomarker tendency

Not used for pathway scoring

rs7385804 AG has no scored directional claim for TFR2 biomarker tendency.

For common A/C calls, rs7385804 is scored as a small tendency toward higher serum iron with more A copies: AA strongest, AC intermediate, and CC not scored as increased.

Likely effectNo clear biomarker tendency
Signal sizeMinimal signal
Evidence supportVery limited support
Report useEvidence only, not scored
Show study evidence
NCBI RefSNP recordidentity only · unknownNCBI RefSNP places rs7385804 in TFR2 and lists A, C, and a rare G observation for this marker. The common A/C contrast is the source-supported comparison used for the scored genotypes.PubMed 21208937gwas · loose proxyA genome-wide study of iron markers identified rs7385804 in TFR2 as associated with serum iron levels, with the A allele associated with a small increase in serum iron in an additive model. The study also reported association with TFR2 mRNA expression in human liver samples.PubMed 27332551biomarker association · close proxyAn independent study of iron-related genes in populations of African ancestry discussed rs7385804 in TFR2 among iron-homeostasis variants, supporting that this marker belongs in an iron-biomarker context while keeping the effect interpretation conservative.

biomarker tendency · CC

TFR2 biomarker tendency

Not used for pathway scoring

rs7385804 CC has no scored directional claim for TFR2 biomarker tendency.

For common A/C calls, rs7385804 is scored as a small tendency toward higher serum iron with more A copies: AA strongest, AC intermediate, and CC not scored as increased.

Likely effectNo clear biomarker tendency
Signal sizeMinimal signal
Evidence supportVery limited support
Report useEvidence only, not scored
Show study evidence
NCBI RefSNP recordidentity only · unknownNCBI RefSNP places rs7385804 in TFR2 and lists A, C, and a rare G observation for this marker. The common A/C contrast is the source-supported comparison used for the scored genotypes.PubMed 21208937gwas · loose proxyA genome-wide study of iron markers identified rs7385804 in TFR2 as associated with serum iron levels, with the A allele associated with a small increase in serum iron in an additive model. The study also reported association with TFR2 mRNA expression in human liver samples.PubMed 27332551biomarker association · close proxyAn independent study of iron-related genes in populations of African ancestry discussed rs7385804 in TFR2 among iron-homeostasis variants, supporting that this marker belongs in an iron-biomarker context while keeping the effect interpretation conservative.

biomarker tendency · CG

TFR2 biomarker tendency

Not used for pathway scoring

rs7385804 CG has no scored directional claim for TFR2 biomarker tendency.

For common A/C calls, rs7385804 is scored as a small tendency toward higher serum iron with more A copies: AA strongest, AC intermediate, and CC not scored as increased.

Likely effectNo clear biomarker tendency
Signal sizeMinimal signal
Evidence supportVery limited support
Report useEvidence only, not scored
Show study evidence
NCBI RefSNP recordidentity only · unknownNCBI RefSNP places rs7385804 in TFR2 and lists A, C, and a rare G observation for this marker. The common A/C contrast is the source-supported comparison used for the scored genotypes.PubMed 21208937gwas · loose proxyA genome-wide study of iron markers identified rs7385804 in TFR2 as associated with serum iron levels, with the A allele associated with a small increase in serum iron in an additive model. The study also reported association with TFR2 mRNA expression in human liver samples.PubMed 27332551biomarker association · close proxyAn independent study of iron-related genes in populations of African ancestry discussed rs7385804 in TFR2 among iron-homeostasis variants, supporting that this marker belongs in an iron-biomarker context while keeping the effect interpretation conservative.

biomarker tendency · GG

TFR2 biomarker tendency

Not used for pathway scoring

rs7385804 GG has no scored directional claim for TFR2 biomarker tendency.

For common A/C calls, rs7385804 is scored as a small tendency toward higher serum iron with more A copies: AA strongest, AC intermediate, and CC not scored as increased.

Likely effectNo clear biomarker tendency
Signal sizeMinimal signal
Evidence supportVery limited support
Report useEvidence only, not scored
Show study evidence
NCBI RefSNP recordidentity only · unknownNCBI RefSNP places rs7385804 in TFR2 and lists A, C, and a rare G observation for this marker. The common A/C contrast is the source-supported comparison used for the scored genotypes.PubMed 21208937gwas · loose proxyA genome-wide study of iron markers identified rs7385804 in TFR2 as associated with serum iron levels, with the A allele associated with a small increase in serum iron in an additive model. The study also reported association with TFR2 mRNA expression in human liver samples.PubMed 27332551biomarker association · close proxyAn independent study of iron-related genes in populations of African ancestry discussed rs7385804 in TFR2 among iron-homeostasis variants, supporting that this marker belongs in an iron-biomarker context while keeping the effect interpretation conservative.
rs80338880TFR2 p.Tyr250Ter1 claims · 2 study rows

biomarker tendency · CC or compound-heterozygous TFR2 deficiency context

TFR2 hepcidin-linked iron sensing tendency

Strong

rs80338880 C, corresponding to TFR2 c.750C>G / p.Tyr250Ter in transcript orientation, is associated with lower TFR2 hepcidin-linked iron sensing tendency in recessive or compound-heterozygous hemochromatosis contexts.

TFR2 rs80338880 C is staged as the forward-genomic recessive truncating type 3 hemochromatosis allele affecting hepcidin-regulated iron sensing.

Likely effectLower biomarker tendency
Signal sizeModerate signal
Evidence supportStrong support
Report useIncluded in pathway scoring
Show study evidence
ClinVar Variation 5380clinical curation · directClinVar maps rs80338880 to TFR2 c.750C>G / p.Tyr250Ter and classifies it in hemochromatosis type 3.GeneReviews NBK1349clinical curation · directGeneReviews supports TFR2-related hemochromatosis as deregulated increased intestinal iron absorption with iron accumulation, matching transferrin-saturation and ferritin pathway targets.

Common symptoms people report

  • iron handling can overlap with more persistent symptom patterns
  • marker-driven follow-up may matter more than generic advice
  • mixed responses can make the pathway easier to miss without structured review

Biomarkers to validate

CBC context

Primary follow-up marker for TFR2 inside iron handling.

Related pathway markers

Useful when the pathway needs to be validated as a system rather than as one variant.

Where DNA analysis helps

DNA helps decide whether TFR2 should move iron handling higher on the follow-up list before broad interventions are assumed.

Example interpretation

TFR2 can strengthen the case for iron handling follow-up when the rest of the pathway points in a similar direction.

Suggested validation: CBC context.

What to do next

  • Use CBC context and pathway context before assuming the gene matters in practice.
  • Read TFR2 alongside the related genes in the same pathway instead of as a standalone result.

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Related symptom angle

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