ENSG00000072274


Homo sapiens

Features
Gene ID: ENSG00000072274
  
Biological name :TFRC
  
Synonyms : P02786 / TFRC / transferrin receptor
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 3
Strand: -1
Band: q29
Gene start: 196027183
Gene end: 196082189
  
Corresponding Affymetrix probe sets: 207332_s_at (Human Genome U133 Plus 2.0 Array)   208691_at (Human Genome U133 Plus 2.0 Array)   237214_at (Human Genome U133 Plus 2.0 Array)   237215_s_at (Human Genome U133 Plus 2.0 Array)   240686_x_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000414015
Ensembl peptide - ENSP00000353224
Ensembl peptide - ENSP00000376197
Ensembl peptide - ENSP00000390133
Ensembl peptide - ENSP00000402839
NCBI entrez gene - 7037     See in Manteia.
OMIM - 190010
RefSeq - NM_001128148
RefSeq - NM_001313966
RefSeq - NM_003234
RefSeq - NM_001313965
RefSeq Peptide - NP_001121620
RefSeq Peptide - NP_001300895
RefSeq Peptide - NP_003225
RefSeq Peptide - NP_001300894
swissprot - P02786
swissprot - F8WBE5
swissprot - G3V0E5
swissprot - H7C3V5
Ensembl - ENSG00000072274
  
Related genetic diseases (OMIM): 616740 - Immunodeficiency 46, 616740
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 tfr1aENSDARG00000101322Danio rerio
 tfr1bENSDARG00000077372Danio rerio
 TFRCENSGALG00000007485Gallus gallus
 TfrcENSMUSG00000022797Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
TFR2 / Q9UP52 / transferrin receptor 2ENSG0000010632743
FOLH1 / Q04609 / folate hydrolase 1ENSG0000008620524
Q9Y3Q0 / NAALAD2 / N-acetylated alpha-linked acidic dipeptidase 2ENSG0000007761624
Q9UQQ1 / NAALADL1 / N-acetylated alpha-linked acidic dipeptidase like 1ENSG0000016806024
Q58DX5 / NAALADL2 / N-acetylated alpha-linked acidic dipeptidase like 2ENSG0000017769419


Protein motifs (from Interpro)
Interpro ID Name
 IPR003137  PA domain
 IPR007365  Transferrin receptor-like, dimerisation domain
 IPR007484  Peptidase M28
 IPR029513  Transferrin receptor protein 1
 IPR036757  Transferrin receptor-like, dimerisation domain superfamily
 IPR037324  Transferrin receptor protein 1/2, PA domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006879 cellular iron ion homeostasis IEA
 biological_processGO:0006897 endocytosis IEA
 biological_processGO:0006898 receptor-mediated endocytosis IEA
 biological_processGO:0016032 viral process IEA
 biological_processGO:0030316 osteoclast differentiation IEA
 biological_processGO:0030890 positive regulation of B cell proliferation IDA
 biological_processGO:0031623 receptor internalization IDA
 biological_processGO:0033572 transferrin transport IEA
 biological_processGO:0035690 cellular response to drug IDA
 biological_processGO:0042102 positive regulation of T cell proliferation IDA
 biological_processGO:0045780 positive regulation of bone resorption IEA
 biological_processGO:0045830 positive regulation of isotype switching IDA
 biological_processGO:0046718 viral entry into host cell IEA
 biological_processGO:0061024 membrane organization TAS
 biological_processGO:0097286 iron ion import IDA
 biological_processGO:1990830 cellular response to leukemia inhibitory factor IEA
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005615 extracellular space HDA
 cellular_componentGO:0005768 endosome IDA
 cellular_componentGO:0005769 early endosome IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005887 integral component of plasma membrane IGI
 cellular_componentGO:0005905 clathrin-coated pit IDA
 cellular_componentGO:0009897 external side of plasma membrane IGI
 cellular_componentGO:0009986 cell surface IDA
 cellular_componentGO:0010008 endosome membrane IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0016323 basolateral plasma membrane IDA
 cellular_componentGO:0030665 clathrin-coated vesicle membrane TAS
 cellular_componentGO:0031410 cytoplasmic vesicle IDA
 cellular_componentGO:0042470 melanosome IEA
 cellular_componentGO:0048471 perinuclear region of cytoplasm IDA
 cellular_componentGO:0055037 recycling endosome IDA
 cellular_componentGO:0070062 extracellular exosome HDA
 cellular_componentGO:0072562 blood microparticle HDA
 cellular_componentGO:1903561 extracellular vesicle HDA
 cellular_componentGO:1990712 HFE-transferrin receptor complex IDA
 molecular_functionGO:0001618 virus receptor activity IEA
 molecular_functionGO:0003723 RNA binding HDA
 molecular_functionGO:0003725 double-stranded RNA binding IDA
 molecular_functionGO:0004998 transferrin receptor activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0033570 transferrin transmembrane transporter activity IEA
 molecular_functionGO:0042802 identical protein binding IPI
 molecular_functionGO:0042803 protein homodimerization activity IPI


Pathways (from Reactome)
Pathway description
Golgi Associated Vesicle Biogenesis
Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis
Transferrin endocytosis and recycling


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000509 Conjunctivitis "Inflammation of the conjunctiva." [HPO:curators]
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 HP:0001287 Meningitis 
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 HP:0001508 Failure to thrive 
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 HP:0001875 Neutropenia 
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 HP:0001903 Anemia 
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 HP:0002028 Chronic diarrhea 
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 HP:0004313 Reduced immunoglobulin levels 
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 HP:0004854 intermittent thrombocytopenia 
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 HP:0005425 Recurrent sinopulmonary infections 
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 HP:0009098 Chronic oral candidiasis 
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 HP:0100806 Sepsis 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000072274 TFRC / P02786 / transferrin receptor  / complex
 ENSG00000010704 HFE / Q30201 / hemochromatosis  / reaction / complex
 ENSG00000091513 TF / P02787 / transferrin  / complex / reaction






 

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