ENSMUSG00000029716


Mus musculus

Features
Gene ID: ENSMUSG00000029716
  
Biological name :Tfr2
  
Synonyms : Q9JKX3 / Tfr2 / Transferrin receptor protein 2
  
Possible biological names infered from orthology : Q9UP52 / transferrin receptor 2
  
Species: Mus musculus
  
Chr. number: 5
Strand: 1
Band: G2
Gene start: 137569840
Gene end: 137587481
  
Corresponding Affymetrix probe sets: 10526630 (MoGene1.0st)   1425381_a_at (Mouse Genome 430 2.0 Array)   1459994_x_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000142814
Ensembl peptide - ENSMUSP00000142720
Ensembl peptide - ENSMUSP00000142731
Ensembl peptide - ENSMUSP00000031729
Ensembl peptide - ENSMUSP00000142478
Ensembl peptide - ENSMUSP00000142502
NCBI entrez gene - 50765     See in Manteia.
MGI - MGI:1354956
RefSeq - XM_011240947
RefSeq - NM_001289507
RefSeq - NM_001289509
RefSeq - NM_001289511
RefSeq - NM_015799
RefSeq - XM_006504591
RefSeq - XM_006504593
RefSeq - XM_006504594
RefSeq Peptide - NP_001276438
RefSeq Peptide - NP_001276440
RefSeq Peptide - NP_056614
RefSeq Peptide - NP_001346135
RefSeq Peptide - NP_001276436
swissprot - A0A0G2JED7
swissprot - Q9JKX3
Ensembl - ENSMUSG00000029716
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 tfr2ENSDARG00000103727Danio rerio
 TFR2ENSG00000106327Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Tfrc / Q62351 / transferrin receptor / P02786*ENSMUSG0000002279740
Q7M758 / Naaladl1 / N-acetylated-alpha-linked acidic dipeptidase-like protein / Q9UQQ1* / N-acetylated alpha-linked acidic dipeptidase like 1*ENSMUSG0000005499925
Folh1 / O35409 / Glutamate carboxypeptidase 2 / Q04609* / folate hydrolase 1*ENSMUSG0000000177323
Q9CZR2 / Naalad2 / N-acetylated alpha-linked acidic dipeptidase 2 / Q9Y3Q0*ENSMUSG0000004394323
Naaladl2 / N-acetylated alpha-linked acidic dipeptidase like 2 / Q58DX5*ENSMUSG0000010275818


Protein motifs (from Interpro)
Interpro ID Name
 IPR003137  PA domain
 IPR007484  Peptidase M28
 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 TAS
 biological_processGO:0006898 receptor-mediated endocytosis ISO
 biological_processGO:0006953 acute-phase response IEA
 biological_processGO:0010039 response to iron ion ISO
 biological_processGO:0033216 ferric iron import IEA
 biological_processGO:0033572 transferrin transport ISO
 biological_processGO:0045807 positive regulation of endocytosis ISO
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II ISO
 biological_processGO:0055072 iron ion homeostasis ISO
 biological_processGO:0071281 cellular response to iron ion ISO
 biological_processGO:0090277 positive regulation of peptide hormone secretion ISO
 biological_processGO:0097286 iron ion import IEA
 biological_processGO:0098707 ferrous iron import across plasma membrane ISO
 biological_processGO:1903319 positive regulation of protein maturation ISO
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005887 integral component of plasma membrane ISO
 cellular_componentGO:0009897 external side of plasma membrane ISO
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane ISA
 cellular_componentGO:0031410 cytoplasmic vesicle ISO
 cellular_componentGO:1990712 HFE-transferrin receptor complex IDA
 molecular_functionGO:0004998 transferrin receptor activity TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0033570 transferrin transmembrane transporter activity IEA
 molecular_functionGO:0039706 co-receptor binding ISO


Pathways (from Reactome)
Pathway description
Transferrin endocytosis and recycling


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
Show

Allelic Composition: Dact1tm1Yegc/Dact1tm1Yegc
Genetic Background: B6.129-Dact1tm1Yegc

 MP:0002811 macrocytic anemia "anemia in which the circulating erythrocyte corpuscular volume is larger than normal" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Dact1tm1Yegc/Dact1tm1Yegc
Genetic Background: B6.129-Dact1tm1Yegc

 MP:0005564 increased hemoglobin content "increase in the total hemoglobin content in the circulating blood" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, RGD:Rat Genome Database submission]
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Allelic Composition: Dact1tm1Yegc/Dact1tm1Yegc
Genetic Background: B6.129-Dact1tm1Yegc

 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: Aqp3tm1Ask/Aqp3tm1Ask,Aqp4tm1Ask/Aqp4tm1Ask
Genetic Background: involves: C57BL/6J

Allelic Composition: Tfr2m1Btlr/Tfr2m1Btlr
Genetic Background: C57BL/6J-Tfr2m1Btlr

 MP:0005638 hemochromatosis "disorder due to the deposition of hemosiderin in the parenchymal cells, causing tissue damage and dysfunction of the liver, pancreas, heart, and pituitary" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, J:64456]
Show

Allelic Composition: Il1rl1tm1Brl/Il1rl1tm1Brl
Genetic Background: involves: 129S/SvEv * C57BL/6

 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"]
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Allelic Composition: Aqp3tm1Ask/Aqp3tm1Ask,Aqp4tm1Ask/Aqp4tm1Ask
Genetic Background: involves: C57BL/6J

Allelic Composition: Tfr2tm1.1Nsub/Tfr2tm1.1Nsub
Genetic Background: involves: 129T2/SvEms * C57BL/6

Allelic Composition: Tfr2tm1.1Anro/Tfr2tm1.1Anro
Genetic Background: 129.Cg-Tfr2tm1.1Anro

Allelic Composition: Tg(Alb1-cre)7Gsc/0,Tfr2tm1.1Anro/Tfr2tm1.1Anro
Genetic Background: involves: 129/Sv * C57BL/6 * FVB/N

 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: Aqp3tm1Ask/Aqp3tm1Ask,Aqp4tm1Ask/Aqp4tm1Ask
Genetic Background: involves: C57BL/6J

Allelic Composition: Tfr2tm1.1Nsub/Tfr2tm1.1Nsub
Genetic Background: involves: 129T2/SvEms * C57BL/6

 MP:0008809 increased spleen iron level "increase in the amount of iron present in the spleen tissue" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Tfr2tm1.1Anro/Tfr2tm1.1Anro
Genetic Background: 129.Cg-Tfr2tm1.1Anro

Allelic Composition: Tfr2tm1.1Nsub/Tfr2tm1.1Nsub
Genetic Background: involves: 129T2/SvEms

 MP:0008810 increased circulating iron level "elevation in the concentration of iron in the blood" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Aqp3tm1Ask/Aqp3tm1Ask,Aqp4tm1Ask/Aqp4tm1Ask
Genetic Background: involves: C57BL/6J

Allelic Composition: Tfr2tm1.1Nsub/Tfr2tm1.1Nsub
Genetic Background: involves: 129T2/SvEms * C57BL/6

Allelic Composition: Tfr2m1Btlr/Tfr2m1Btlr
Genetic Background: C57BL/6J-Tfr2m1Btlr

Allelic Composition: Tg(Alb1-cre)7Gsc/0,Tfr2tm1.1Anro/Tfr2tm1.1Anro
Genetic Background: involves: 129/Sv * C57BL/6 * FVB/N

 MP:0008955 increased cellular hemoglobin content "increase in the mean of the red blood cell hemoglobin concentration (RBC CH) histogram, which represents the distribution of red blood cells by the amount of hemoglobin present in each individual cell independent of cell volume" [MGI:brs "Beverly Richards-Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Tfr2tm1.1Anro/Tfr2tm1.1Anro
Genetic Background: 129.Cg-Tfr2tm1.1Anro

 MP:0011890 increased circulating ferritin level "elevated concentration in the blood of ferritin, a ubiquitous intracellular protein that stores iron and releases it in a controlled fashion; some ferritin is also found in the blood and is measured in tests for overall iron levels, anemia and chronic diseases" [MGI:csmith]
Show

Allelic Composition: Tfr2m1Btlr/Tfr2m1Btlr
Genetic Background: C57BL/6J-Tfr2m1Btlr

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000032554 Trf / Q921I1 / Serotransferrin / TF* / P02787* / transferrin*  / complex / reaction






 

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