TF (transferrin)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 7018
Gene name Transferrin
Gene symbol TF
Synonyms (NCBI Gene)
HEL-S-71pPRO1557PRO2086TFQTL1
Chromosome 3
Chromosome location 3q22.1
Summary 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 io
SNPs SNP information provided by dbSNP.
10
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (10)
SNP ID Visualize variation Clinical significance Consequence
rs1049296 C>G,T Association, risk-factor, benign Coding sequence variant, missense variant
rs8177291 T>- Likely-pathogenic Intron variant
rs41295774 A>G Pathogenic, benign, uncertain-significance Coding sequence variant, missense variant
rs121918676 G>A Pathogenic Missense variant, coding sequence variant
rs121918677 G>A,T Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
10
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (10)
miRTarBase ID miRNA Experiments Reference
MIRT018601 hsa-miR-335-5p Microarray 18185580
MIRT053165 hsa-miR-19a-3p Luciferase reporter assayqRT-PCRWestern blot 23666757
MIRT053165 hsa-miR-19a-3p Luciferase reporter assayqRT-PCRWestern blot 23666757
MIRT736526 hsa-miR-92a-3p Luciferase reporter assayWestern blottingRNA-seqqRT-PCR 32901851
MIRT2348054 hsa-miR-183 CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
8
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
DDIT3 Unknown 12939601
NFKB1 Activation 12744731
NFKB1 Unknown 22119392
RELA Activation 12744731
RELA Unknown 22119392
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
68
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0005506 Function Iron ion binding IEA
GO:0005515 Function Protein binding IPI 14691533, 15880641, 16271884, 16354665, 19664057, 20404192, 21788477, 22327295, 22343719, 29302006, 32296183
GO:0005576 Component Extracellular region IDA 9990067
GO:0005576 Component Extracellular region IEA
GO:0005576 Component Extracellular region IGI 18353247
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
190000 11740 ENSG00000091513
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P02787
Protein name Serotransferrin (Transferrin) (Beta-1 metal-binding globulin) (Siderophilin)
Protein 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
PDB 1A8E , 1A8F , 1B3E , 1BP5 , 1BTJ , 1D3K , 1D4N , 1DTG , 1FQE , 1FQF , 1JQF , 1N7W , 1N7X , 1N84 , 1OQG , 1OQH , 1RYO , 1SUV , 2HAU , 2HAV , 2O7U , 2O84 , 3FGS , 3QYT , 3S9L , 3S9M , 3S9N , 3SKP , 3V83 , 3V89 , 3V8X , 3VE1 , 4H0W , 4X1B , 4X1D , 5DYH , 5H52 , 5WTD , 5X5P , 5Y6K , 6CTC , 6D03 , 6D04 , 6D05 , 6JAS , 6SOY , 6SOZ , 6UJ6 , 7FFM , 7FFU , 7Q1L
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00405 Transferrin 25 → 347 Transferrin Domain
PF00405 Transferrin 361 → 683 Transferrin Domain
Tissue specificity TISSUE SPECIFICITY: Expressed by the liver and secreted in plasma.
Sequence
Sequence length 698
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  HIF-1 signaling pathway
Ferroptosis
TGF-beta signaling pathway
Mineral absorption 		  Platelet degranulation
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis
Post-translational protein phosphorylation
Iron uptake and transport
Transferrin endocytosis and recycling
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Atransferrinemia Likely pathogenic; Pathogenic rs2107925842, rs773139494, rs2530589860, rs121918679, rs121918681 RCV002274256
RCV000202418
RCV000013454
RCV000013455
RCV000013456
Transferrin variant Bv Pathogenic rs121918678 RCV000013453
Transferrin variant D1 Pathogenic rs121918676 RCV000013448
Show/Hide Unknown Diseases (9)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hepatocellular carcinoma Benign rs8177286 RCV005897600
Iron deficiency anemia Benign rs1799899 RCV000013457
Lung cancer Benign rs8177286 RCV005897602
Prostate cancer Uncertain significance rs193921099 RCV000149042
Show/Hide Text Mining Associations (209)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acquired Immunodeficiency Syndrome Associate 32532356
Acute Kidney Injury Associate 33801801
Adrenocortical Carcinoma Associate 25691058
Airway Obstruction Associate 24789352
Alcohol Related Disorders Associate 18519871
Alcohol Withdrawal Seizures Associate 35229939
Alcoholism Associate 29665075, 33596964, 35229939, 36959410
Alzheimer Disease Associate 15060098, 15975770, 16930371, 17047092, 20029940, 20796026, 22232349, 24756957, 32517787, 33115695
Alzheimer Disease Stimulate 6427297
Anemia Associate 32235485, 36778054, 8317485