Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	7036
Gene name Gene Name - the full gene name approved by the HGNC.	Transferrin receptor 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	TFR2
Synonyms (NCBI Gene) Gene synonyms aliases	HFE3, TFRC2
Chromosome Chromosome number	7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	7q22.1
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a single-pass type II membrane protein, which is a member of the transferrin receptor-like family. This protein mediates cellular uptake of transferrin-bound iron, and may be involved in iron metabolism, hepatocyte function and erythrocy

Show/Hide all(33)

SNP ID	Visualize variation	Clinical significance	Consequence
rs41295912	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs41303495	G>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs41303501	C>T	Benign, likely-benign, risk-factor	Missense variant, coding sequence variant
rs80338876	C>T	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs80338877	->G	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs80338878	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs80338879	A>T	Pathogenic	Missense variant, initiator codon variant, coding sequence variant
rs80338880	G>C	Pathogenic	Coding sequence variant, stop gained
rs80338881	G>A	Pathogenic	Coding sequence variant, stop gained
rs80338882	G>A	Pathogenic	Coding sequence variant, stop gained
rs80338883	TTG>-	Pathogenic	Inframe deletion, coding sequence variant
rs80338884	C>T	Pathogenic	Missense variant, coding sequence variant
rs80338885	C>T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs80338886	A>C	Pathogenic	Missense variant, coding sequence variant
rs80338887	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs80338888	CTGGGCCACGGC>-,CTGGGCCACGGCCTGGGCCACGGC	Pathogenic	Inframe deletion, coding sequence variant, inframe insertion
rs80338889	T>C,G	Pathogenic	Missense variant, coding sequence variant
rs80338890	C>T	Pathogenic	Splice acceptor variant
rs80338891	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs139178017	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs148902192	A>T	Conflicting-interpretations-of-pathogenicity	Intron variant, genic upstream transcript variant
rs184812195	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs750609759	T>C	Likely-pathogenic	Splice acceptor variant
rs772104483	C>A	Pathogenic	Coding sequence variant, missense variant
rs773050231	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs786204108	C>G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs946552921	G>A,T	Pathogenic	Stop gained, synonymous variant, coding sequence variant
rs1051249273	G>A,T	Uncertain-significance, pathogenic	Stop gained, missense variant, coding sequence variant
rs1220336558	G>A	Pathogenic	Coding sequence variant, stop gained
rs1388444100	->CT	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1426704853	G>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs1562838535	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1584460907	C>G	Likely-pathogenic	Splice donor variant

Show/Hide all(36)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004998	Function	Transferrin receptor activity	IDA	18353247
GO:0004998	Function	Transferrin receptor activity	IEA
GO:0004998	Function	Transferrin receptor activity	NAS	10409623
GO:0005515	Function	Protein binding	IPI	18353247, 22728873, 25635054, 29388418, 32296183
GO:0005737	Component	Cytoplasm	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IGI	18353247
GO:0005886	Component	Plasma membrane	NAS	10409623
GO:0005886	Component	Plasma membrane	TAS
GO:0006826	Process	Iron ion transport	NAS	10409623
GO:0006879	Process	Intracellular iron ion homeostasis	IDA	18353247
GO:0006879	Process	Intracellular iron ion homeostasis	TAS	15319276
GO:0006898	Process	Receptor-mediated endocytosis	IEA
GO:0006898	Process	Receptor-mediated endocytosis	IGI	18353247
GO:0009897	Component	External side of plasma membrane	IBA
GO:0009897	Component	External side of plasma membrane	IEA
GO:0009897	Component	External side of plasma membrane	IGI	18353247
GO:0010039	Process	Response to iron ion	IMP	21173098
GO:0016020	Component	Membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IDA	12704209
GO:0033572	Process	Transferrin transport	IDA	18353247
GO:0033572	Process	Transferrin transport	IEA
GO:0033572	Process	Transferrin transport	IGI	18353247
GO:0039706	Function	Co-receptor binding	IPI	22728873
GO:0045807	Process	Positive regulation of endocytosis	IGI	18353247
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IGI	25635054
GO:0060586	Process	Multicellular organismal-level iron ion homeostasis	IEA
GO:0060586	Process	Multicellular organismal-level iron ion homeostasis	IEA
GO:0060586	Process	Multicellular organismal-level iron ion homeostasis	IMP	21173098
GO:0071281	Process	Cellular response to iron ion	IGI	18353247
GO:0090277	Process	Positive regulation of peptide hormone secretion	IMP	21173098
GO:0140298	Process	Endocytic iron import into cell	IBA
GO:0140298	Process	Endocytic iron import into cell	IGI	18353247
GO:1903319	Process	Positive regulation of protein maturation	IGI	18353247
GO:1990712	Component	HFE-transferrin receptor complex	IDA	12704209, 22728873
GO:1990712	Component	HFE-transferrin receptor complex	IEA

MIM	HGNC	e!Ensembl
604720	11762	ENSG00000106327

Protein

UniProt ID

Q9UP52

Protein name

Transferrin receptor protein 2 (TfR2)

Protein function

Mediates cellular uptake of transferrin-bound iron in a non-iron dependent manner. May be involved in iron metabolism, hepatocyte function and erythrocyte differentiation.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02225	PA	241 → 329	PA domain	Family
PF04389	Peptidase_M28	412 → 624	Peptidase family M28	Family

Tissue specificity

TISSUE SPECIFICITY: Predominantly expressed in liver. While the alpha form is also expressed in spleen, lung, muscle, prostate and peripheral blood mononuclear cells, the beta form is expressed in all tissues tested, albeit weakly.

Sequence

MERLWGLFQRAQQLSPRSSQTVYQRVEGPRKGHLEEEEEDGEEGAETLAHFCPMELRGPE
PLGSRPRQPNLIPWAAAGRRAAPYLVLTALLIFTGAFLLGYVAFRGSCQACGDSVLVVSE
DVNYEPDLDFHQGRLYWSDLQAMFLQFLGEGRLEDTIRQTSLRERVAGSAGMAALTQDIR
AALSRQKLDHVWTDTHYVGLQFPDPAHPNTLHWVDEAGKVGEQLPLEDPDVYCPYSAIGN
VTGELVYAHYGRPEDLQDLRARGVDPVGRLLLVRVGVISFAQKVTNAQDFGAQGVLIYPE
PADFSQDPPKPSLSSQQAVYGHVHLGTGDPYTPGFPSFNQTQFPPVASSGLPSIPAQPIS
ADIASRLLRKLKGPVAPQEWQGSLLGSPYHLGPGPRLRLVVNNHRTSTPINNIFGCIEGR
SEPDHYVVIGAQRDAWGPGAAKSAVGTAILLELVRTFSSMVSNGFRPRRSLLFISWDGGD
FGSVGSTEWLEGYLSVLHLKAVVYVSLDNAVLGDDKFHAKTSPLLTSLIESVLKQVDSPN
HSGQTLYEQVVFTNPSWDAEVIRPLPMDSSAYSFTAFVGVPAVEFSFMEDDQAYPFLHTK
EDTYENLHKVLQGRLPAVAQAVAQLAGQLLIRLSHDRLLPLDFGRYGDVVLRHIGNLNEF
SGDLKARGLTLQWVYSARGDYIRAAEKLRQEIYSSEERDERLTRMYNVRIMRVEFYFLSQ
YVSPADSPFRHIFMGRGDHTLGALLDHLRLLRSNSSGTPGATSSTGFQESRFRRQLALLT
WTLQGAANALSGDVWNIDNNF

Sequence length

801

Interactions

View interactions

	KEGG		Reactome
	TGF-beta signaling pathway		Transferrin endocytosis and recycling

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Hemochromatosis	hemochromatosis type 3	rs1220336558, rs768907730, rs80338891, rs80338880, rs750609759, rs1562837669, rs80338877, rs80338878, rs1051249273, rs1405776096, rs80338879, rs80338889, rs786204108, rs1803297757, rs80338882 View all (5 more)	N/A
Hereditary Hemochromatosis	hereditary hemochromatosis	rs750609759, rs1562837669, rs80338891, rs1562838535, rs1405776096, rs80338877, rs80338878, rs786204108, rs1051249273, rs1803297757, rs1388444100, rs80338882, rs773050231, rs1584460907, rs749211542 View all (7 more)	N/A

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Alzheimer disease	Alzheimer's disease or gastroesophageal reflux disease	N/A	N/A	GWAS
Schizophrenia	Schizophrenia	N/A	N/A	GWAS

Show/Hide Text Mining Associations (42)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Arthralgia	Associate	28276324
Arthritis	Associate	15319290
Autism Spectrum Disorder	Associate	31936202
beta Thalassemia	Associate	35355750
Carcinoma Hepatocellular	Associate	11675342, 17956864, 19828835, 20576915
Carcinoma Pancreatic Ductal	Associate	34258619
Colorectal Neoplasms	Associate	32375704
Crohn Disease	Associate	40527798
Diabetes Mellitus	Associate	15319290
Drug Related Side Effects and Adverse Reactions	Associate	20220060
Dysautonomia Familial	Associate	28276324
Fibrocartilaginous embolism	Associate	37480032
Ganglioneuroblastoma	Associate	31698611
Ganglioneuroma	Associate	31698611
Heart Failure	Associate	15319290
Hemochromatosis	Associate	11313241, 12091366, 12130528, 12406888, 15084147, 15147384, 15317665, 15319290, 15486069, 15521925, 16838333, 17202145, 17847004, 17956864, 18245657 View all (18 more)
Hemochromatosis type 2	Associate	15147384
Hemochromatosis type 3	Associate	11313241, 17298224, 19144662
Hepatitis C Chronic	Associate	37632052
Hyperferritinemia	Associate	34828384
Idiopathic Noncirrhotic Portal Hypertension	Associate	19307463
Immunologic Deficiency Syndromes	Associate	15671438
Intervertebral Disc Degeneration	Associate	37480032
Iron Deficiencies	Associate	25637053
Iron Overload	Associate	11313241, 12130528, 15147384, 16838333, 17202145, 18245657, 19819738, 20027482, 21770687, 23556518, 25635054, 25637053, 26633544, 26799139, 34048062, 35355750 View all (1 more)
Liver Cirrhosis	Associate	15319290
Macular Degeneration	Associate	24648608
Melanoma Cutaneous Malignant	Associate	32199022
Mitochondrial Diseases	Associate	24121126
Multiple Sclerosis	Associate	35682458
Neoplasms	Associate	19307463, 24338397, 31698611
Neoplastic Syndromes Hereditary	Associate	15521925, 28276324
Neuroblastoma	Associate	31698611
Non alcoholic Fatty Liver Disease	Stimulate	29065180
Obesity	Associate	24648608
Osteogenesis imperfecta type 3	Associate	29388418
Parkinson Disease	Associate	24121126
Porphyria Cutanea Tarda	Associate	17298224
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	15015967, 20220060
Prostatic Neoplasms	Associate	25080433
Stomach Neoplasms	Associate	32705773
Thyroid Cancer Papillary	Associate	37361050

TFR2 (transferrin receptor 2)