ENSMUSG00000022797


Mus musculus

Features
Gene ID: ENSMUSG00000022797
  
Biological name :Tfrc
  
Synonyms : Q62351 / Tfrc / transferrin receptor
  
Possible biological names infered from orthology : P02786
  
Species: Mus musculus
  
Chr. number: 16
Strand: 1
Band: B3
Gene start: 32608920
Gene end: 32632794
  
Corresponding Affymetrix probe sets: 10435075 (MoGene1.0st)   1422966_a_at (Mouse Genome 430 2.0 Array)   1422967_a_at (Mouse Genome 430 2.0 Array)   1452661_at (Mouse Genome 430 2.0 Array)   AFFX-TransRecMur/X57349_3_at (Mouse Genome 430 2.0 Array)   AFFX-TransRecMur/X57349_5_at (Mouse Genome 430 2.0 Array)   AFFX-TransRecMur/X57349_M_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000023486
Ensembl peptide - ENSMUSP00000113028
Ensembl peptide - ENSMUSP00000123423
NCBI entrez gene - 22042     See in Manteia.
MGI - MGI:98822
RefSeq - XM_006521999
RefSeq - NM_001357298
RefSeq - NM_011638
RefSeq Peptide - NP_001344227
RefSeq Peptide - NP_035768
swissprot - Q542D9
swissprot - Q62351
swissprot - Q8C872
swissprot - D3YZB9
Ensembl - ENSMUSG00000022797
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 tfr1aENSDARG00000101322Danio rerio
 tfr1bENSDARG00000077372Danio rerio
 TFRCENSGALG00000007485Gallus gallus
 TFRCENSG00000072274Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Tfr2 / Q9JKX3 / Transferrin receptor protein 2 / Q9UP52* / transferrin receptor 2*ENSMUSG0000002971642
Folh1 / O35409 / Glutamate carboxypeptidase 2 / Q04609* / folate hydrolase 1*ENSMUSG0000000177325
Q9CZR2 / Naalad2 / N-acetylated alpha-linked acidic dipeptidase 2 / Q9Y3Q0*ENSMUSG0000004394324
Q7M758 / Naaladl1 / N-acetylated-alpha-linked acidic dipeptidase-like protein / Q9UQQ1* / N-acetylated alpha-linked acidic dipeptidase like 1*ENSMUSG0000005499923
Naaladl2 / N-acetylated alpha-linked acidic dipeptidase like 2 / Q58DX5*ENSMUSG0000010275817


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:0030316 osteoclast differentiation IMP
 biological_processGO:0030890 positive regulation of B cell proliferation IEA
 biological_processGO:0031623 receptor internalization IEA
 biological_processGO:0031668 cellular response to extracellular stimulus TAS
 biological_processGO:0033572 transferrin transport IEA
 biological_processGO:0034755 iron ion transmembrane transport IEA
 biological_processGO:0035690 cellular response to drug IEA
 biological_processGO:0042102 positive regulation of T cell proliferation IEA
 biological_processGO:0045780 positive regulation of bone resorption IDA
 biological_processGO:0045830 positive regulation of isotype switching IEA
 biological_processGO:0071281 cellular response to iron ion TAS
 biological_processGO:0097286 iron ion import IEA
 biological_processGO:1990830 cellular response to leukemia inhibitory factor IEP
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005768 endosome IEA
 cellular_componentGO:0005769 early endosome IDA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005887 integral component of plasma membrane IEA
 cellular_componentGO:0005905 clathrin-coated pit IEA
 cellular_componentGO:0009897 external side of plasma membrane IEA
 cellular_componentGO:0009986 cell surface IEA
 cellular_componentGO:0010008 endosome membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0016323 basolateral plasma membrane IEA
 cellular_componentGO:0031410 cytoplasmic vesicle IEA
 cellular_componentGO:0042470 melanosome IEA
 cellular_componentGO:0048471 perinuclear region of cytoplasm IEA
 cellular_componentGO:0055037 recycling endosome IEA
 cellular_componentGO:0070062 extracellular exosome IDA
 cellular_componentGO:1990712 HFE-transferrin receptor complex IEA
 molecular_functionGO:0003725 double-stranded RNA binding IEA
 molecular_functionGO:0004998 transferrin receptor activity IEA
 molecular_functionGO:0005381 iron ion transmembrane transporter activity TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0033570 transferrin transmembrane transporter activity IEA
 molecular_functionGO:0042802 identical protein binding IEA
 molecular_functionGO:0042803 protein homodimerization activity IEA


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
 MP:0000245 abnormal erythropoiesis "atypical process of red blood cell formation" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, tc:Teresa Chu , Mouse Genome Informatics Curator]
Show

Allelic Composition: Tgfawa1/Tgfawa1
Genetic Background: Not Specified

 MP:0000462 abnormal digestive system morphology "anomalous structure of the system dedicated to the mechanical, chemical, and enzymatic processing of food" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Gt(ROSA)26Sortm1(Tfrc*)Nca/Gt(ROSA)26Sor+,Tfrctm3.1Nca/Tfrctm3.1Nca,Tg(Vil-cre)20Syr/0
Genetic Background: involves: 129S4/SvJae * C57BL/6 * CD-1 * DBA/2

 MP:0000477 abnormal intestine morphology "malformation of the digestive tube passing from the stomach to the anus" [J:48968]
Show

Allelic Composition: Lmf1Gt(OST195742)Lex/Lmf1Gt(OST195742)Lex
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6J

 MP:0000479 abnormal intestinal cell "anomalous structure or development of the cells comprising the intestine" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Lmf1Gt(OST195742)Lex/Lmf1Gt(OST195742)Lex
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6J

 MP:0000495 abnormal colon morphology "malformation of the portion of the large intestine between the cecum and the rectum" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Lmf1Gt(OST195742)Lex/Lmf1Gt(OST195742)Lex
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6J

 MP:0000496 abnormal small intestine morphology "structural or developmental anomalies of the intestinum tenue " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Lmf1Gt(OST195742)Lex/Lmf1Gt(OST195742)Lex
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6J

 MP:0001263 weight loss "progressive reduction of body weight below normal average for age" [J:45400]
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Allelic Composition: Lmf1Gt(OST195742)Lex/Lmf1Gt(OST195742)Lex
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6J

 MP:0001265 reduced body size "smaller than average body weight, height and/or length of an organism compared to controls" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:23170]
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Allelic Composition: Lmf1Gt(OST195742)Lex/Lmf1Gt(OST195742)Lex
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6J

 MP:0001577 anemia "less than normal levels of red blood cells, hemoglobin or volume of packed red blood cells " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:53370]
Show

Allelic Composition: Tgfawa1/Tgfawa1
Genetic Background: Not Specified

 MP:0001670 abnormal mineral absorption "anomalous ability of the body to take in any inorganic substance that has importance in body functions" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Tgfawa1/Tgfawa1
Genetic Background: Not Specified

 MP:0001770 abnormal iron level "anomalous concentrations of this metallic element that normally occurs in the heme of hemoglobin, myoglobin, transferrin, ferritin, and iron-containing porphyrins; it is an essential component of enzymes such as catalase, peroxidase, and various cytochromes" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Tgfawa1/Tgfawa1
Genetic Background: Not Specified

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Lmf1Gt(OST195742)Lex/Lmf1Gt(OST195742)Lex
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6J

 MP:0002169 no phenotype detected "normal, viable and fertile appearance and behavior; indistinguishable from controls" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Gt(ROSA)26Sortm1(Tfrc*)Nca/Gt(ROSA)26Sor+,Tfrctm3.1Nca/Tfrctm3.1Nca,Tg(Vil-cre)20Syr/0
Genetic Background: involves: 129S4/SvJae * C57BL/6 * CD-1 * DBA/2

 MP:0002192 hydrops fetalis "an abnormal accumulation of serous fluid in fetal tissues" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Tgfawa1/Tgfawa1
Genetic Background: Not Specified

 MP:0002591 decreased mean corpuscular volume "less than the average amount of space occupied by each red blood cell, calculated from the hematocrit and red cell count, in erythrocyte indices" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Tgfawa1/Tgfawa1
Genetic Background: Not Specified

Allelic Composition: TfrcMvd001/Tfrc+
Genetic Background: C3HeB/FeJ-TfrcMvd001

 MP:0002813 microcytosis "the presence of unusually small erythrocytes in the circulating blood" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Tgfawa1/Tgfawa1
Genetic Background: Not Specified

 MP:0003131 increased erythrocyte count "greater number of the cells in the blood that carry oxygen, red blood cells, per unit" [csmith:Cynthia L. Smith, Mouse Genome Informatics Curator]
Show

Allelic Composition: Tgfawa1/Tgfawa1
Genetic Background: Not Specified

Allelic Composition: TfrcMvd001/Tfrc+
Genetic Background: C3HeB/FeJ-TfrcMvd001

 MP:0003271 abnormal duodenum morphology "malformation in the first division of the small intestine that extends from the pyloris to the junction with the jejunum " [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Lmf1Gt(OST195742)Lex/Lmf1Gt(OST195742)Lex
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6J

 MP:0003292 melena "dark colored, foul-smelling feces due to the presence of blood" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, ncbi:Matthew Mailman, NCBI request]
Show

Allelic Composition: Lmf1Gt(OST195742)Lex/Lmf1Gt(OST195742)Lex
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6J

 MP:0003400 kinked neural tube "twists or kinks in the embryonic neural tube" [J:66514, anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
Show

Allelic Composition: Tgfawa1/Tgfawa1
Genetic Background: Not Specified

 MP:0003717 pallor "an unnatural paleness to the skin, generally attributable to anemia" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Tgfawa1/Tgfawa1
Genetic Background: Not Specified

 MP:0003984 embryonic growth retardation "slow or limited development before birth" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Tgfawa1/Tgfawa1
Genetic Background: Not Specified

 MP:0004151 hypoferremia "less than the normal concentration of this metallic element in the blood" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
Show

Allelic Composition: Gt(ROSA)26Sortm1(Tfrc*)Nca/Gt(ROSA)26Sor+,Hfetm2Nca/Hfetm2Nca
Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac * FVB/N

 MP:0004229 abnormal embryonic erythropoiesis "anomaly in the development of primarily large, nucleated erythroblasts occurring in blood islands in the yolk sac, generally occurs from E7-E11 in the mouse and through 10 weeks in humans" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Tgfawa1/Tgfawa1
Genetic Background: Not Specified

 MP:0004230 abnormal embryonic erythrocyte morphology "structural anomaly of the embryonic blood cells that carry oxygen" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Tgfawa1/Tgfawa1
Genetic Background: Not Specified

 MP:0005036 diarrhea "abnormally frequent discharge of semi-solid or fluid fecal matter from the bowel" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Lmf1Gt(OST195742)Lex/Lmf1Gt(OST195742)Lex
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6J

 MP:0005039 hypoxia "reduced concentration of O2 in the blood, alveoli or other tissues resulting in the decreased pressure of this component of body gases" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Tgfawa1/Tgfawa1
Genetic Background: Not Specified

 MP:0005312 pericardial effusion "escape of fluid from blood vessels or lymphatics into the fibrous sac surrounding the heart" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Tgfawa1/Tgfawa1
Genetic Background: Not Specified

 MP:0005562 decreased mean corpuscular hemoglobin "less than the average levels of hemoglobin contained in an erythrocyte" [RGD:Rat Genome Database submission, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Tgfawa1/Tgfawa1
Genetic Background: Not Specified

Allelic Composition: TfrcMvd001/Tfrc+
Genetic Background: C3HeB/FeJ-TfrcMvd001

 MP:0005637 abnormal iron homeostasis "anomaly in the state of equilibrium in the body with respect to this metallic element that normally occurs in the heme of hemoglobin, myoglobin, transferrin, ferritin, and iron-containing porphyrins; it is an essential component of enzymes such as catalase, peroxidase, and various cytochromes" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:64456]
Show

Allelic Composition: Tgfawa1/Tgfawa1
Genetic Background: Not Specified

 MP:0006042 increased apoptosis "greater than normal programmed cell death" [RGD:Rat Genome Database submission, smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Tgfawa1/Tgfawa1
Genetic Background: Not Specified

 MP:0008388 hypochromic microcytic anemia "hemoglobin deficiency resulting from a reduction in the concentration of hemoglobin in red cells, where the erythrocyte corpuscular volume is smaller than normal" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Gt(ROSA)26Sortm1(Tfrc*)Nca/Gt(ROSA)26Sor+,Hfetm2Nca/Hfetm2Nca
Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac * FVB/N

 MP:0008743 decreased liver iron level "reduction in the amount of iron present in the liver tissue" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Tgfawa1/Tgfawa1
Genetic Background: Not Specified

 MP:0008807 increased liver iron level "increase in the amount of iron present in the liver tissue" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Hephsla/Hephsla,Hfetm2Nca/Hfetm2Nca
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

Allelic Composition: Hfetm1.1Nca/Hfetm1.1Nca,Tfrctm1Nca/Tfrc+
Genetic Background: Not Specified

 MP:0008808 decreased spleen iron level "reduction in the amount of iron present in the spleen tissue" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Tgfawa1/Tgfawa1
Genetic Background: Not Specified

 MP:0008883 abnormal enterocyte proliferation "anomaly in the ability of the enterocyte cell population to undergo expansion by cell division" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Lmf1Gt(OST195742)Lex/Lmf1Gt(OST195742)Lex
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6J

Allelic Composition: Tfrctm3.1Nca/Tfrctm3.1Nca,Tg(Vil-cre/ERT2)23Syr/0
Genetic Background: involves: 129S4/SvJae * C57BL/6 * CD-1 * DBA/2

 MP:0008973 decreased erythroid progenitor cell number "reduced numbers of progenitors of the erythrocyte lineage" [CL:0000038, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Tgfawa1/Tgfawa1
Genetic Background: Not Specified

 MP:0009511 distended stomach "an expansion in the volume of the sac-like structure of the digestive canal between the esophagus and the small intestine, as by stretching or distention" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Lmf1Gt(OST195742)Lex/Lmf1Gt(OST195742)Lex
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6J

Allelic Composition: Tfrctm3.1Nca/Tfrctm3.1Nca,Tg(Vil-cre/ERT2)23Syr/0
Genetic Background: involves: 129S4/SvJae * C57BL/6 * CD-1 * DBA/2

 MP:0011085 complete postnatal lethality "premature death anytime between the neonatal period and weaning age of all organisms of a given genotype in a population (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
Show

Allelic Composition: Lmf1Gt(OST195742)Lex/Lmf1Gt(OST195742)Lex
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6J

 MP:0011086 partial postnatal lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms anytime between the neonatal period and weaning age (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
Show

Allelic Composition: Gt(ROSA)26Sortm1(Tfrc*)Nca/Gt(ROSA)26Sor+,Tfrctm3.1Nca/Tfrctm3.1Nca,Tg(Vil-cre)20Syr/0
Genetic Background: involves: 129S4/SvJae * C57BL/6 * CD-1 * DBA/2

 MP:0011092 complete embryonic lethality "death of all organisms of a given genotype in a population within the embryonic period prior to organogenesis (Mus: prior to E14)" [MGI:csmith]
Show

Allelic Composition: Tgfawa1/Tgfawa1
Genetic Background: Not Specified

 MP:0013241 embryo tissue necrosis "morphological changes resulting from pathological death of some or all embryo tissue; usually due to irreversible damage" [MGI:csmith]
Show

Allelic Composition: Tgfawa1/Tgfawa1
Genetic Background: Not Specified

 MP:0013956 decreased colon length "reduced length of the portion of the large intestine between the cecum and the rectum" [ISBN:0683400088]
Show

Allelic Composition: Lmf1Gt(OST195742)Lex/Lmf1Gt(OST195742)Lex
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6J

 MP:0014083 blunted small intestinal villi "abnormal flattening of the surface of the tiny hair-like projections which protrude from the inside of the small intestine and contain blood vessels that capture digested nutrients that are absorbed through the intestinal wall; usually due to intestinal damage or injury" [MGI:Anna, PMID:16679353]
Show

Allelic Composition: Lmf1Gt(OST195742)Lex/Lmf1Gt(OST195742)Lex
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6J

Allelic Composition: Tfrctm3.1Nca/Tfrctm3.1Nca,Tg(Vil-cre/ERT2)23Syr/0
Genetic Background: involves: 129S4/SvJae * C57BL/6 * CD-1 * DBA/2

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000006611 Hfe / P70387 / Hereditary hemochromatosis protein homolog / Q30201* / hemochromatosis*  / complex / reaction
 ENSMUSG00000032554 Trf / Q921I1 / Serotransferrin / TF* / P02787* / transferrin*  / complex / reaction
 ENSMUSG00000022797 Tfrc / Q62351 / transferrin receptor / P02786*  / complex






 

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