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Aliases for TF Gene

Aliases for TF Gene

  • Transferrin 2 3 4 5
  • Beta-1 Metal-Binding Globulin 3 4
  • Siderophilin 3 4
  • Epididymis Secretory Sperm Binding Protein Li 71p 3
  • Serotransferrin 3
  • HEL-S-71p 3
  • PRO1557 3
  • PRO2086 3
  • TFQTL1 3

External Ids for TF Gene

Previous GeneCards Identifiers for TF Gene

  • GC03P130424
  • GC03P134209
  • GC03P134746
  • GC03P134786
  • GC03P134727
  • GC03P134947
  • GC03P133419
  • GC03P130844
  • GC03P133464
  • GC03P133745

Summaries for TF Gene

Entrez Gene Summary for TF Gene

  • This gene encodes a glycoprotein with an approximate molecular weight of 76.5 kDa. It is thought to have been created as a result of an ancient gene duplication event that led to generation of homologous C and N-terminal domains each of which binds one ion of ferric iron. The function of this protein is to transport iron from the intestine, reticuloendothelial system, and liver parenchymal cells to all proliferating cells in the body. This protein may also have a physiologic role as granulocyte/pollen-binding protein (GPBP) involved in the removal of certain organic matter and allergens from serum. [provided by RefSeq, Sep 2009]

GeneCards Summary for TF Gene

TF (Transferrin) is a Protein Coding gene. Diseases associated with TF include Atransferrinemia and Deficiency Anemia. Among its related pathways are Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways and Ferroptosis. Gene Ontology (GO) annotations related to this gene include ubiquitin protein ligase binding and ferric iron transmembrane transporter activity. An important paralog of this gene is LTF.

UniProtKB/Swiss-Prot for TF Gene

  • Transferrins are iron binding transport proteins which can bind two Fe(3+) ions in association with the binding of an anion, usually bicarbonate. It is responsible for the transport of iron from sites of absorption and heme degradation to those of storage and utilization. Serum transferrin may also have a further role in stimulating cell proliferation.

Gene Wiki entry for TF Gene

Additional gene information for TF Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TF Gene

Genomics for TF Gene

GeneHancer (GH) Regulatory Elements for TF Gene

Promoters and enhancers for TF Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J133660 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 655.1 -0.5 -459 3 PKNOX1 ATF1 ARID4B SIN3A FEZF1 DMAP1 ZNF48 ETS1 POLR2B ELK1 TOPBP1 TFP1 TF GC03P133653
GH03J133746 Promoter/Enhancer 1.5 EPDnew dbSUPER 654.6 +84.4 84376 0.1 FOXA2 MLX ZFP64 ARID4B DMAP1 ZNF48 ETS1 YY1 SLC30A9 ATF7 TF LOC100421637 PIR42738 TFP1
GH03J133663 Enhancer 1 Ensembl ENCODE 650.7 +1.9 1902 0.6 ELF3 ARID4B RAD21 RARA YY1 TCF12 ZNF143 THAP11 ZNF654 RXRA TOPBP1 RNU6-678P TFP1 TF
GH03J133784 Promoter 0.5 EPDnew 650.1 +122.8 122827 0.1 SRPRB TF LOC105374116
GH03J133763 Enhancer 0.7 ENCODE dbSUPER 21.1 +102.6 102644 1.3 PAF1 NFIA RXRA EGR1 POLR2A ZBTB33 SRPRB TF CEP63 C3orf36 LOC100421637
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TF on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TF gene promoter:
  • Meis-1
  • HOXA9B
  • HOXA9
  • FOXD3
  • Meis-1b
  • AREB6
  • HNF-3beta
  • NRSF form 2
  • NRSF form 1

Genomic Locations for TF Gene

Genomic Locations for TF Gene
134,643 bases
Plus strand
33,051 bases
Plus strand

Genomic View for TF Gene

Genes around TF on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TF Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TF Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TF Gene

Proteins for TF Gene

  • Protein details for TF Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • O43890
    • Q1HBA5
    • Q9NQB8
    • Q9UHV0

    Protein attributes for TF Gene

    698 amino acids
    Molecular mass:
    77064 Da
    Quaternary structure:
    • Monomer.
    • Sequence=AAF22007.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for TF Gene

neXtProt entry for TF Gene

Post-translational modifications for TF Gene

  • Glycosylation at isoforms=630, posLast=491491, isoforms=432, and posLast=5151
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Antibody Products

  • Invitrogen Antibodies for TF (AFLGC-TF)

No data available for DME Specific Peptides for TF Gene

Domains & Families for TF Gene

Gene Families for TF Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for TF Gene

Suggested Antigen Peptide Sequences for TF Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the transferrin family.
  • Belongs to the transferrin family.
genes like me logo Genes that share domains with TF: view

Function for TF Gene

Molecular function for TF Gene

UniProtKB/Swiss-Prot Function:
Transferrins are iron binding transport proteins which can bind two Fe(3+) ions in association with the binding of an anion, usually bicarbonate. It is responsible for the transport of iron from sites of absorption and heme degradation to those of storage and utilization. Serum transferrin may also have a further role in stimulating cell proliferation.
GENATLAS Biochemistry:
transferrin with three predominant variants Tfc1,Tfc2 (P570S),TFC3

Phenotypes From GWAS Catalog for TF Gene

Gene Ontology (GO) - Molecular Function for TF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004857 enzyme inhibitor activity IEA --
GO:0005047 signal recognition particle binding IBA --
GO:0005515 protein binding IPI 14691533
GO:0008198 ferrous iron binding IDA 18353247
GO:0008199 ferric iron binding IEA --
genes like me logo Genes that share ontologies with TF: view
genes like me logo Genes that share phenotypes with TF: view

Human Phenotype Ontology for TF Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for TF Gene

miRTarBase miRNAs that target TF

Clone Products

  • Addgene plasmids for TF

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for TF Gene

Localization for TF Gene

Subcellular locations from UniProtKB/Swiss-Prot for TF Gene


Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TF gene
Compartment Confidence
plasma membrane 5
extracellular 5
endoplasmic reticulum 5
endosome 5
cytosol 3
lysosome 3
cytoskeleton 2
mitochondrion 2
nucleus 2
golgi apparatus 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS,IEA --
GO:0005615 extracellular space HDA 16502470
GO:0005769 early endosome IDA 15880641
GO:0005770 late endosome IDA 15880641
GO:0005785 signal recognition particle receptor complex IBA --
genes like me logo Genes that share ontologies with TF: view

Pathways & Interactions for TF Gene

genes like me logo Genes that share pathways with TF: view

Gene Ontology (GO) - Biological Process for TF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001895 retina homeostasis HEP 23580065
GO:0002576 platelet degranulation TAS --
GO:0006811 ion transport IEA --
GO:0006826 iron ion transport IEA --
GO:0006879 cellular iron ion homeostasis TAS --
genes like me logo Genes that share ontologies with TF: view

No data available for SIGNOR curated interactions for TF Gene

Drugs & Compounds for TF Gene

(87) Drugs for TF Gene - From: DrugBank, PharmGKB, ClinicalTrials, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Aluminium Approved, Investigational Pharma Target 0
Copper Approved, Investigational Pharma Target 202
Iron Approved Pharma Target 1259
Iron Dextran Approved, Vet_approved Pharma Carrier, substrate 0
Bismuth Subsalicylate Approved, Vet_approved Pharma Carrier 28

(60) Additional Compounds for TF Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • FE (II) ion
  • Fe(II)
  • Fe(2+)
  • Ferrous ion
  • Iron ion(2+)
Hydrogen carbonate
  • [co(OH)2]
  • Dihydrogen carbonate
  • H2CO3
  • Koehlensaeure
  • Carbonate
genes like me logo Genes that share compounds with TF: view

Transcripts for TF Gene

mRNA/cDNA for TF Gene

Unigene Clusters for TF Gene

Representative Sequences:

Clone Products

  • Addgene plasmids for TF

Alternative Splicing Database (ASD) splice patterns (SP) for TF Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3a · 3b · 3c ^ 4a · 4b · 4c ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16a · 16b · 16c ^
SP1: - - - - -
SP2: - - - - - - - - - - - - - - - - - - - -
SP3: - - - - - -
SP4: -
SP5: - -
SP7: - - -

ExUns: 17 ^ 18a · 18b

Relevant External Links for TF Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for TF Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TF Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TF Gene

This gene is overexpressed in Liver (x19.0), Brain - Spinal cord (cervical c-1) (x13.3), and Brain - Substantia nigra (x5.4).

Protein differential expression in normal tissues from HIPED for TF Gene

This gene is overexpressed in Vitreous humor (10.4), Plasma (7.7), and Cerebrospinal fluid (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TF Gene

Protein tissue co-expression partners for TF Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TF Gene:


SOURCE GeneReport for Unigene cluster for TF Gene:


mRNA Expression by UniProt/SwissProt for TF Gene:

Tissue specificity: Expressed by the liver and secreted in plasma.

Evidence on tissue expression from TISSUES for TF Gene

  • Liver(5)
  • Nervous system(5)
  • Eye(4.9)
  • Heart(4.8)
  • Kidney(4.7)
  • Bone marrow(4.5)
  • Saliva(4.3)
  • Blood(4)
  • Intestine(3.8)
  • Lung(3.5)
  • Gall bladder(3.4)
  • Pancreas(3.3)
  • Adrenal gland(3.1)
  • Muscle(2.9)
  • Spleen(2.9)
  • Urine(2.5)
  • Skin(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TF Gene

Germ Layers:
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • immune
  • lymphatic
  • respiratory
Head and neck:
  • ear
  • heart
  • lung
  • liver
  • blood
  • blood vessel
  • red blood cell
genes like me logo Genes that share expression patterns with TF: view

Orthologs for TF Gene

This gene was present in the common ancestor of animals.

Orthologs for TF Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia TF 34 33
  • 99.38 (n)
(Canis familiaris)
Mammalia TF 34 33
  • 80.32 (n)
(Mus musculus)
Mammalia Trf 16 34 33
  • 78.15 (n)
Gm20425 34
  • 51 (a)
(Bos Taurus)
Mammalia TF 34 33
  • 77.7 (n)
(Rattus norvegicus)
Mammalia Tf 33
  • 77.28 (n)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 59 (a)
(Monodelphis domestica)
Mammalia -- 34
  • 58 (a)
(Gallus gallus)
Aves TF 34 33
  • 60.26 (n)
(Anolis carolinensis)
Reptilia -- 34
  • 51 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia tf 33
  • 59.25 (n)
(Danio rerio)
Actinopterygii tfa 34 33
  • 53.8 (n)
Dr.28538 33
fruit fly
(Drosophila melanogaster)
Insecta Tsf2 34
  • 28 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4617 34
  • 31 (a)
Species where no ortholog for TF was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TF Gene

Gene Tree for TF (if available)
Gene Tree for TF (if available)
Evolutionary constrained regions (ECRs) for TF: view image

Paralogs for TF Gene

Paralogs for TF Gene

(2) SIMAP similar genes for TF Gene using alignment to 11 proteins:

  • C9JB55_HUMAN
  • F8WC57_HUMAN
  • H7C5E8_HUMAN
  • J3KN47_HUMAN
  • Q06AH7_HUMAN Pseudogenes for TF Gene

genes like me logo Genes that share paralogs with TF: view

Variants for TF Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for TF Gene

Different polymorphic variants of transferrin are known. The sequence shown is the predominant electrophoretic variant (C1 or TF*C1).

Sequence variations from dbSNP and Humsavar for TF Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs1049296 association, risk-factor, benign, Transferrin variant c1/c2, Alzheimer disease, susceptibility to, Atransferrinemia 133,775,510(+) C/T coding_sequence_variant, missense_variant
rs112157819 uncertain-significance, Atransferrinemia 133,759,233(+) C/T coding_sequence_variant, synonymous_variant
rs1130459 benign, Atransferrinemia 133,746,439(+) A/G 5_prime_UTR_variant
rs113868497 uncertain-significance, Atransferrinemia 133,754,586(+) G/A coding_sequence_variant, synonymous_variant
rs114449208 uncertain-significance, Atransferrinemia 133,748,598(+) G/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for TF Gene

Variant ID Type Subtype PubMed ID
esv3380897 CNV duplication 20981092
nsv4018 CNV deletion 18451855
nsv829729 CNV loss 17160897

Variation tolerance for TF Gene

Residual Variation Intolerance Score: 50% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.79; 58.25% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TF Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

Disorders for TF Gene

MalaCards: The human disease database

(83) MalaCards diseases for TF Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
  • hypotransferrinemia, familial
deficiency anemia
  • anemia
iron metabolism disease
  • disorder of iron metabolism
iron deficiency anemia
  • iron-deficiency anemia
nutritional deficiency disease
  • carbamoyl-phosphate synthase i deficiency disease
- elite association - COSMIC cancer census association via MalaCards
Search TF in MalaCards View complete list of genes associated with diseases


  • Atransferrinemia (ATRAF) [MIM:209300]: A rare autosomal recessive disorder characterized by abnormal synthesis of transferrin leading to iron overload and microcytic hypochromic anemia. {ECO:0000269 PubMed:11110675, ECO:0000269 PubMed:15466165}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for TF Gene


Additional Disease Information for TF

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with TF: view

Publications for TF Gene

  1. Human transferrin G277S mutation: a risk factor for iron deficiency anaemia. (PMID: 11703331) Lee PL … Beutler E (British journal of haematology 2001) 3 4 44 58
  2. Alternative splicing prevents transferrin secretion during differentiation of a human oligodendrocyte cell line. (PMID: 10931525) de Arriba Zerpa GA … Baron B (Journal of neuroscience research 2000) 3 4 22 58
  3. Human transferrin: cDNA characterization and chromosomal localization. (PMID: 6585826) Yang F … Bowman BH (Proceedings of the National Academy of Sciences of the United States of America 1984) 2 3 4 58
  4. Association of HFE and TMPRSS6 genetic variants with iron and erythrocyte parameters is only in part dependent on serum hepcidin concentrations. (PMID: 21785125) Traglia M … Toniolo D (Journal of medical genetics 2011) 3 44 58
  5. Genome-wide association study identifies two loci strongly affecting transferrin glycosylation. (PMID: 21665994) Kutalik Z … Whitfield JB (Human molecular genetics 2011) 3 44 58

Products for TF Gene

  • Addgene plasmids for TF