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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 nameGene Name - the full gene name approved by the HGNC.
Transferrin
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
TF
SynonymsGene synonyms aliases
HEL-S-71p, PRO1557, PRO2086, TFQTL1
ChromosomeChromosome number
3
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q22.1
SummarySummary 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
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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
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
GO ID Ontology Definition Evidence Reference
GO:0001895 Process Retina homeostasis HEP 23580065
GO:0002576 Process Platelet degranulation TAS
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 NAS 14718574
Other IDsOther 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
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
Sequence
Sequence length 698
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Alzheimer disease Familial Alzheimer Disease (FAD), Alzheimer Disease, Late Onset, Alzheimer Disease, Early Onset, Alzheimer`s Disease, Alzheimer`s Disease, Focal Onset rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039, rs63750973, rs63749810, rs63750643, rs193922916, rs63750306, rs63750590, rs63750526, rs63751235, rs661, rs63751037, rs63749885, rs63750231, rs63751229, rs63751272, rs63751223, rs63750391, rs63751163, rs281875357, rs63751141, rs63750082, rs121917807, rs63751399, rs63750265, rs63751144, rs63750886, rs63751068, rs121917808, rs63749891, rs63750083, rs63749824, rs63750577, rs267606983, rs63750218, rs63751287, rs63750900, rs145518263, rs63751475, rs63750450, rs63749805, rs63751278, rs63751106, rs63750004, rs63749806, rs63751024, rs63750248, rs63750779, rs63751139, rs63750219, rs63750298, rs63750687, rs63750851, rs1553268799, rs1561901881, rs1561905293, rs866101707, rs1566638673, rs63750009, rs1566656702, rs1566657804, rs1567885728, rs1568339995, rs1566630791, rs1555358260, rs63750964, rs1594998354, rs63751316 15060098, 17192785, 17192785, 15060098
Anemia Anemia, Microcytic hypochromic anemia (disorder) rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505 11110675
Arthritis Arthritis rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470
Autism Autistic Disorder rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634 15363659
Unknown
Disease name Disease term dbSNP ID References
Anaplastic carcinoma Anaplastic carcinoma 16316942, 9879772
Cardiovascular abnormalities Cardiovascular Abnormalities
Congestive heart failure Congestive heart failure rs2301610, rs3833910, rs12301951, rs201674674, rs186741807, rs150140412, rs786205727, rs757840030, rs552050895, rs759465783, rs201978086, rs572757800, rs1572143354, rs749160569
Fatty liver Fatty Liver, Steatohepatitis 20008134, 21907177

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