ENSG00000106327


Homo sapiens

Features
Gene ID: ENSG00000106327
  
Biological name :TFR2
  
Synonyms : Q9UP52 / TFR2 / transferrin receptor 2
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 7
Strand: -1
Band: q22.1
Gene start: 100620416
Gene end: 100642779
  
Corresponding Affymetrix probe sets: 207883_s_at (Human Genome U133 Plus 2.0 Array)   210215_at (Human Genome U133 Plus 2.0 Array)   215863_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000420525
Ensembl peptide - ENSP00000223051
Ensembl peptide - ENSP00000413905
Ensembl peptide - ENSP00000418942
NCBI entrez gene - 7036     See in Manteia.
OMIM - 604720
RefSeq - XM_017012573
RefSeq - NM_001206855
RefSeq - NM_003227
RefSeq - XM_005250553
RefSeq Peptide - NP_001193784
RefSeq Peptide - NP_003218
swissprot - H7C544
swissprot - Q9UP52
swissprot - E7ET36
Ensembl - ENSG00000106327
  
Related genetic diseases (OMIM): 604250 - Hemochromatosis, type 3, 604250
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
 tfr2ENSDARG00000103727Danio rerio
 Tfr2ENSMUSG00000029716Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
TFRC / P02786 / transferrin receptorENSG0000007227441
Q9UQQ1 / NAALADL1 / N-acetylated alpha-linked acidic dipeptidase like 1ENSG0000016806024
FOLH1 / Q04609 / folate hydrolase 1ENSG0000008620523
Q9Y3Q0 / NAALAD2 / N-acetylated alpha-linked acidic dipeptidase 2ENSG0000007761623
Q58DX5 / NAALADL2 / N-acetylated alpha-linked acidic dipeptidase like 2ENSG0000017769420


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:0006826 iron ion transport NAS
 biological_processGO:0006879 cellular iron ion homeostasis TAS
 biological_processGO:0006898 receptor-mediated endocytosis IGI
 biological_processGO:0006953 acute-phase response IEA
 biological_processGO:0010039 response to iron ion IMP
 biological_processGO:0033216 ferric iron import IGI
 biological_processGO:0033572 transferrin transport IGI
 biological_processGO:0045807 positive regulation of endocytosis IGI
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IGI
 biological_processGO:0055072 iron ion homeostasis IMP
 biological_processGO:0071281 cellular response to iron ion IGI
 biological_processGO:0090277 positive regulation of peptide hormone secretion IMP
 biological_processGO:0097286 iron ion import IGI
 biological_processGO:1903319 positive regulation of protein maturation IGI
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005887 integral component of plasma membrane IGI
 cellular_componentGO:0009897 external side of plasma membrane IGI
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0031410 cytoplasmic vesicle IDA
 cellular_componentGO:1990712 HFE-transferrin receptor complex IDA
 molecular_functionGO:0004998 transferrin receptor activity NAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0033570 transferrin transmembrane transporter activity IEA
 molecular_functionGO:0039706 co-receptor binding IPI


Pathways (from Reactome)
Pathway description
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:0000044 Hypogonadotrophic hypogonadism "Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH)." [HPO:curators]
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 HP:0000141 Amenorrhea 
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 HP:0000802 Impotence 
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 HP:0000953 Hyperpigmentation 
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 HP:0001369 Arthritis 
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 HP:0001394 Cirrhosis 
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 HP:0001638 Cardiomyopathy 
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 HP:0001875 Neutropenia 
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 HP:0001888 Lymphopenia 
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 HP:0001903 Anemia 
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 HP:0002910 Elevated transaminases "Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage." [HPO:curators]
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 HP:0003281 Increased serum ferritin 
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 HP:0003452 Increased serum iron 
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 HP:0012378 Fatigue "A subjective feeling of tiredness characterized by a lack of energy and motivation." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000091513 TF / P02787 / transferrin  / complex / reaction






 

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