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TFR2 (transferrin receptor 2)

Identity

Alias (NCBI)HFE3
TFRC2
HGNC (Hugo) TFR2
HGNC Alias symbHFE3
TFRC2
LocusID (NCBI) 7036
Atlas_Id 51246
Location 7q22.1  [Link to chromosome band 7q22]
Location_base_pair Starts at 100620420 and ends at 100641552 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



External links

 

Nomenclature
HGNC (Hugo)TFR2   11762
Cards
Entrez_Gene (NCBI)TFR2    transferrin receptor 2
AliasesHFE3; TFRC2
GeneCards (Weizmann)TFR2
Ensembl hg19 (Hinxton)ENSG00000106327 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000106327 [Gene_View]  ENSG00000106327 [Sequence]  chr7:100620420-100641552 [Contig_View]  TFR2 [Vega]
ICGC DataPortalENSG00000106327
TCGA cBioPortalTFR2
AceView (NCBI)TFR2
Genatlas (Paris)TFR2
SOURCE (Princeton)TFR2
Genetics Home Reference (NIH)TFR2
Genomic and cartography
GoldenPath hg38 (UCSC)TFR2  -     chr7:100620420-100641552 -  7q22.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TFR2  -     7q22.1   [Description]    (hg19-Feb_2009)
GoldenPathTFR2 - 7q22.1 [CytoView hg19]  TFR2 - 7q22.1 [CytoView hg38]
ImmunoBaseENSG00000106327
Genome Data Viewer NCBITFR2 [Mapview hg19]  
OMIM604250   604720   
Gene and transcription
Genbank (Entrez)AF067864 AF085928 AK000421 AK022002 BC142630
RefSeq transcript (Entrez)NM_001206855 NM_003227
Consensus coding sequences : CCDS (NCBI)TFR2
Gene ExpressionTFR2 [ NCBI-GEO ]   TFR2 [ EBI - ARRAY_EXPRESS ]   TFR2 [ SEEK ]   TFR2 [ MEM ]
Gene Expression Viewer (FireBrowse)TFR2 [ Firebrowse - Broad ]
GenevisibleExpression of TFR2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)7036
GTEX Portal (Tissue expression)TFR2
Human Protein AtlasENSG00000106327-TFR2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UP52   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UP52  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UP52
PhosPhoSitePlusQ9UP52
Domains : Interpro (EBI)PA_domain    Peptidase_M28    Peptidase_M28B    TFR-like_dimer_dom_sf    TfR1/2_PA   
Domain families : Pfam (Sanger)PA (PF02225)    Peptidase_M28 (PF04389)   
Domain families : Pfam (NCBI)pfam02225    pfam04389   
Conserved Domain (NCBI)TFR2
SuperfamilyQ9UP52
AlphaFold pdb e-kbQ9UP52   
Human Protein Atlas [tissue]ENSG00000106327-TFR2 [tissue]
HPRD05282
Protein Interaction databases
DIP (DOE-UCLA)Q9UP52
IntAct (EBI)Q9UP52
BioGRIDTFR2
STRING (EMBL)TFR2
ZODIACTFR2
Ontologies - Pathways
QuickGOQ9UP52
Ontology : AmiGOtransferrin receptor activity  transferrin receptor activity  protein binding  plasma membrane  integral component of plasma membrane  integral component of plasma membrane  proteolysis  iron ion transport  cellular iron ion homeostasis  receptor-mediated endocytosis  acute-phase response  metalloexopeptidase activity  external side of plasma membrane  external side of plasma membrane  response to iron ion  cytoplasmic vesicle  transferrin transport  transferrin transport  co-receptor binding  positive regulation of endocytosis  positive regulation of transcription by RNA polymerase II  iron ion homeostasis  iron ion homeostasis  cellular response to iron ion  positive regulation of peptide hormone secretion  endocytic iron import into cell  endocytic iron import into cell  positive regulation of protein maturation  HFE-transferrin receptor complex  
Ontology : EGO-EBItransferrin receptor activity  transferrin receptor activity  protein binding  plasma membrane  integral component of plasma membrane  integral component of plasma membrane  proteolysis  iron ion transport  cellular iron ion homeostasis  receptor-mediated endocytosis  acute-phase response  metalloexopeptidase activity  external side of plasma membrane  external side of plasma membrane  response to iron ion  cytoplasmic vesicle  transferrin transport  transferrin transport  co-receptor binding  positive regulation of endocytosis  positive regulation of transcription by RNA polymerase II  iron ion homeostasis  iron ion homeostasis  cellular response to iron ion  positive regulation of peptide hormone secretion  endocytic iron import into cell  endocytic iron import into cell  positive regulation of protein maturation  HFE-transferrin receptor complex  
NDEx NetworkTFR2
Atlas of Cancer Signalling NetworkTFR2
Wikipedia pathwaysTFR2
Orthology - Evolution
OrthoDB7036
GeneTree (enSembl)ENSG00000106327
Phylogenetic Trees/Animal Genes : TreeFamTFR2
Homologs : HomoloGeneTFR2
Homology/Alignments : Family Browser (UCSC)TFR2
Gene fusions - Rearrangements
Fusion : QuiverTFR2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTFR2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TFR2
dbVarTFR2
ClinVarTFR2
MonarchTFR2
1000_GenomesTFR2 
Exome Variant ServerTFR2
GNOMAD BrowserENSG00000106327
Varsome BrowserTFR2
ACMGTFR2 variants
VarityQ9UP52
Genomic Variants (DGV)TFR2 [DGVbeta]
DECIPHERTFR2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTFR2 
Mutations
ICGC Data PortalTFR2 
TCGA Data PortalTFR2 
Broad Tumor PortalTFR2
OASIS PortalTFR2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTFR2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DTFR2
Mutations and Diseases : HGMDTFR2
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaTFR2
DgiDB (Drug Gene Interaction Database)TFR2
DoCM (Curated mutations)TFR2
CIViC (Clinical Interpretations of Variants in Cancer)TFR2
Cancer3DTFR2
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604250    604720   
Orphanet18976   
DisGeNETTFR2
MedgenTFR2
Genetic Testing Registry TFR2
NextProtQ9UP52 [Medical]
GENETestsTFR2
Target ValidationTFR2
Huge Navigator TFR2 [HugePedia]
ClinGenTFR2
Clinical trials, drugs, therapy
MyCancerGenomeTFR2
Protein Interactions : CTDTFR2
Pharm GKB GenePA36477
PharosQ9UP52
Clinical trialTFR2
Miscellaneous
canSAR (ICR)TFR2
HarmonizomeTFR2
DataMed IndexTFR2
Probes
Litterature
PubMed110 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXTFR2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Mon Oct 4 15:34:54 CEST 2021

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