TF (transferrin)

2007-02-01  

Identity

HGNC
TF
LOCATION
3q22.1
LOCUSID
7018
ALIAS
HEL-S-71p,PRO1557,PRO2086,TFQTL1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 7018
MIM: 190000
HGNC: 11740
Ensembl: ENSG00000091513

Variants:

dbSNP: 7018
ClinVar: 7018
TCGA: ENSG00000091513
COSMIC: TF

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000091513ENST00000402696P02787
ENSG00000091513ENST00000414694F8WEK9
ENSG00000091513ENST00000461695H7C5E8
ENSG00000091513ENST00000466911C9JB55
ENSG00000091513ENST00000482271C9JVG0
ENSG00000091513ENST00000485977F8WC57
ENSG00000091513ENST00000494430F8WCI6

Expression (GTEx)

0
500
1000
1500
2000
2500
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Mineral absorptionKEGGko04978
Mineral absorptionKEGGhsa04978
HIF-1 signaling pathwayKEGGhsa04066
HemostasisREACTOMER-HSA-109582
Platelet activation, signaling and aggregationREACTOMER-HSA-76002
Response to elevated platelet cytosolic Ca2+REACTOMER-HSA-76005
Platelet degranulationREACTOMER-HSA-114608
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Iron uptake and transportREACTOMER-HSA-917937
Transferrin endocytosis and recyclingREACTOMER-HSA-917977
Clathrin-mediated endocytosisREACTOMER-HSA-8856828
Cargo recognition for clathrin-mediated endocytosisREACTOMER-HSA-8856825
FerroptosisKEGGko04216
FerroptosisKEGGhsa04216

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA10004adalimumabChemicalClinicalAnnotationassociatedPD27115882
PA443815Crohn DiseaseDiseaseClinicalAnnotationassociatedPD27115882

References

Pubmed IDYearTitleCitations
171927852007Systematic meta-analyses of Alzheimer disease genetic association studies: the AlzGene database.609
149802232004Structure of the human transferrin receptor-transferrin complex.135
192545672009Interaction of the hereditary hemochromatosis protein HFE with transferrin receptor 2 is required for transferrin-induced hepcidin expression.111
205347412010Association of CR1, CLU and PICALM with Alzheimer's disease in a cohort of clinically characterized and neuropathologically verified individuals.108
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
223272952012Structural basis for iron piracy by pathogenic Neisseria.80
153192902004Diferric transferrin regulates transferrin receptor 2 protein stability.64
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
190842172009Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels.61
190842172009Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels.61

Citation

Dessen P

TF (transferrin)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46020/tf