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... See more...

Aliases for TF Gene

Aliases for TF Gene

  • Transferrin 2 3 4 5
  • Serotransferrin 2 3 4
  • Beta-1 Metal-Binding Globulin 3 4
  • Siderophilin 3 4
  • Epididymis Secretory Sperm Binding Protein Li 71p 3
  • HEL-S-71p 3
  • EC 3.4.21 54
  • 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
  • GC03P133663

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 Iron Deficiency Anemia. Among its related pathways are Vesicle-mediated transport and Clathrin-mediated endocytosis. 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 Summary 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 , Rfam classification 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
Score
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 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 755 -0.5 -484 3 E2F8 ZBTB40 CTCF POLR2A CREB1 HCFC1 MYC ETV6 ELF1 MAX TOPBP1 INHCAP TF lnc-TF-3 RYK HMGB3P14 lnc-CDV3-2
GH03J133746 Promoter/Enhancer 1.6 EPDnew Ensembl dbSUPER 754.6 +84.3 84304 0.2 FOXA1 MLX RBPJ NR2F1 ATF1 NR2F6 CREB1 RAD21 ZNF652 MNT TF piR-60885-083 lnc-SRPRB-3 LOC100421637 INHCAP
GH03J133663 Enhancer 0.8 ENCODE 750.6 +1.9 1894 0.5 CTCF ZBTB6 RBPJ NR2F6 RAD21 ELF3 PRDM1 KAT8 RXRA REST TOPBP1 INHCAP RF00026-735 RNU6-678P TF lnc-TF-3
GH03J133664 Promoter 0.5 Ensembl 750.6 +1.4 1403 0.4 PRDM1 CTCF TOPBP1 INHCAP RF00026-735 RNU6-678P TF lnc-TF-3
GH03J133784 Promoter 0.3 EPDnew 750.1 +122.8 122827 0.1 SRPRB piR-31508-035 lnc-TF-12 TF LOC105374116
- 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:
  • AREB6
  • FOXD3
  • HNF-3beta
  • HOXA9
  • HOXA9B
  • Meis-1
  • Meis-1b
  • NRSF form 1
  • NRSF form 2

Genomic Locations for TF Gene

Genomic Locations for TF Gene
chr3:133,661,998-133,796,641
(GRCh38/hg38)
Size:
134,644 bases
Orientation:
Plus strand
chr3:133,464,800-133,497,850
(GRCh37/hg19)
Size:
33,051 bases
Orientation:
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:
    P02787-TRFE_HUMAN
    Recommended name:
    Serotransferrin
    Protein Accession:
    P02787
    Secondary Accessions:
    • O43890
    • Q1HBA5
    • Q9NQB8
    • Q9UHV0

    Protein attributes for TF Gene

    Size:
    698 amino acids
    Molecular mass:
    77064 Da
    Quaternary structure:
    • Monomer.
    SequenceCaution:
    • 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

Selected DME Specific Peptides for TF Gene

P02787:
  • GDVAFVK
  • KADRDQYELLC
  • YSGAFKCL
  • GKKSCHT

Post-translational modifications for TF Gene

  • Glycosylation at Ser51, Asn432, Asn491, Asn523, and Asn630
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • TRFE_HUMAN (558)

Antibody Products

  • Invitrogen Antibodies for TF (AFLGC-TF)

Domains & Families for TF Gene

Gene Families for TF Gene

HGNC:
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

GenScript: Design optimal peptide antigens:
  • TF protein (A0PJA6_HUMAN)
  • cDNA FLJ54029, highly similar to Serotransferrin (B4DHZ6_HUMAN)
  • Transferrin (Q06AH7_HUMAN)
  • Siderophilin (TRFE_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P02787

UniProtKB/Swiss-Prot:

TRFE_HUMAN :
  • Belongs to the transferrin family.
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

Enzyme Numbers (IUBMB) for TF Gene

Phenotypes From GWAS Catalog for TF Gene

Gene Ontology (GO) - Molecular Function for TF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 14691533
GO:0008198 ferrous iron binding IDA 18353247
GO:0008199 ferric iron binding IEA --
GO:0015091 ferric iron transmembrane transporter activity IEA --
GO:0034986 iron chaperone activity IDA 18353247
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

CRISPR Products

miRNA for TF Gene

miRTarBase miRNAs that target TF

Clone Products

  • Addgene plasmids for TF

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for TF Gene

Localization for TF Gene

Subcellular locations from UniProtKB/Swiss-Prot for TF Gene

Secreted.

Subcellular locations from

COMPARTMENTS
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
endosome 5
endoplasmic reticulum 4
cytosol 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:0005788 endoplasmic reticulum lumen TAS --
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

SIGNOR curated interactions for TF Gene

Is activated by:

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

Drugs & Compounds for TF Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Iron Approved, Experimental Pharma Target 1452
Aluminium Approved, Investigational Pharma Target 0
Copper Approved, Investigational Pharma Target 227
Iron Dextran Approved, Vet_approved Pharma Carrier, substrate 0
iron sucrose Approved Pharma Carrier, substrate 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Carbonic acid
  • [co(OH)2]
  • Dihydrogen carbonate
  • H2CO3
  • Koehlensaeure
  • Carbonate
71-52-3, 463-79-6

(1) ApexBio Compounds for TF Gene

Compound Action Cas Number
transferrin fragment Transferrin fragment
genes like me logo Genes that share compounds with TF: view

Transcripts for TF Gene

CRISPR Products

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: - -
SP6:
SP7: - - -
SP8:

ExUns: 17 ^ 18a · 18b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for TF Gene

GeneLoc Exon Structure for
TF
ECgene alternative splicing isoforms for
TF

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:

TF

SOURCE GeneReport for Unigene cluster for TF Gene:

Hs.518267

mRNA Expression by UniProt/SwissProt for TF Gene:

P02787-TRFE_HUMAN
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
Systems:
  • cardiovascular
  • digestive
  • immune
  • lymphatic
  • respiratory
Regions:
Head and neck:
  • ear
Thorax:
  • heart
  • lung
Abdomen:
  • liver
General:
  • 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
chimpanzee
(Pan troglodytes)
Mammalia TF 33 32
  • 99.38 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TF 33 32
  • 80.32 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Trf 17 33 32
  • 78.15 (n)
Gm20425 33
  • 51 (a)
OneToMany
cow
(Bos Taurus)
Mammalia TF 33 32
  • 77.7 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tf 32
  • 77.28 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 33
  • 59 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 33
  • 58 (a)
OneToMany
chicken
(Gallus gallus)
Aves TF 33 32
  • 60.26 (n)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 33
  • 51 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia tf 32
  • 59.25 (n)
zebrafish
(Danio rerio)
Actinopterygii tfa 33 32
  • 53.8 (n)
OneToMany
Dr.28538 32
fruit fly
(Drosophila melanogaster)
Insecta Tsf2 33
  • 28 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4617 33
  • 31 (a)
ManyToMany
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

ENSEMBL:
Gene Tree for TF (if available)
TreeFam:
Gene Tree for TF (if available)
Aminode:
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:

  • TRFE_HUMAN
  • A0PJA6_HUMAN
  • B4DHZ6_HUMAN
  • C9JB55_HUMAN
  • C9JVG0_HUMAN
  • F8WC57_HUMAN
  • F8WCI6_HUMAN
  • F8WEK9_HUMAN
  • H7C5E8_HUMAN
  • J3KN47_HUMAN
  • Q06AH7_HUMAN

Pseudogenes.org 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

TRFE_HUMAN-P02787
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, intron_variant
rs113868497 uncertain-significance, Atransferrinemia 133,754,586(+) G/A coding_sequence_variant, synonymous_variant
rs114449208 uncertain-significance, Atransferrinemia 133,748,598(+) G/A/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)
TF
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TF

SNP Genotyping and Copy Number Assay Products

Disorders for TF Gene

MalaCards: The human disease database

(38) MalaCards diseases for TF Gene - From: HGMD, OMIM, ClinVar, Orphanet, DISEASES, Novoseek, and GeneCards

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

UniProtKB/Swiss-Prot

TRFE_HUMAN
  • 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

hypotransferrinemia,familial

Additional Disease Information for TF

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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 43 56
  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 23 56
  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 56
  4. Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels. (PMID: 21208937) Pichler I … Pramstaller PP (Human molecular genetics 2011) 3 43 56
  5. 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 43 56

Products for TF Gene

  • Addgene plasmids for TF

Sources for TF Gene