• 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
TFR2 (HGNC:11762) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
transferrin receptor 2
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
HFE3, TFRC2
%HI
46.16(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.77(Read more about gnomAD LOEUF score)
Cytoband
7q22.1
Genomic Coordinates
GRCh37/hg19: chr7:100218043-100239175 NCBI Ensembl UCSC
GRCh38/hg38: chr7:100620420-100641552 NCBI Ensembl UCSC
MANE Select Transcript
NM_003227.4 ENST00000223051.8 (Read more about MANE Select)
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. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-3877
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000007.13) (NC_000007.14)