TF (transferrin)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7018
Gene name Gene Name - the full gene name approved by the HGNC.
Transferrin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TF
Synonyms (NCBI Gene) Gene synonyms aliases
HEL-S-71p, PRO1557, PRO2086, TFQTL1
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q22.1
Summary Summary of gene provided in NCBI Entrez 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 io
SNPs SNP information provided by dbSNP.
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.
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 assay, qRT-PCR, Western blot 23666757
MIRT053165 hsa-miR-19a-3p Luciferase reporter assay, qRT-PCR, Western blot 23666757
MIRT736526 hsa-miR-92a-3p Luciferase reporter assay, Western blotting, RNA-seq, qRT-PCR 32901851
MIRT2348054 hsa-miR-183 CLIP-seq
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(8)
Transcription factor Regulation Reference
DDIT3 Unknown 12939601
NFKB1 Activation 12744731
NFKB1 Unknown 22119392
RELA Activation 12744731
RELA Unknown 22119392
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(68)
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
190000 11740 ENSG00000091513
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Congenital Atransferrinemia Atransferrinemia rs121918679, rs121918681, rs773139494 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Oligodendroglioma Oligodendroglioma N/A N/A GWAS
Show/Hide Text Mining Associations (209)
Associations from Text Mining Disease 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