The TMPRSS6 gene homepage

General information
Gene symbol TMPRSS6
Gene name transmembrane protease, serine 6
Chromosome 22
Chromosomal band q13.1
Imprinted Unknown
Genomic reference NG_012856.2
Transcript reference NM_153609.2
Exon/intron information NM_153609.2 exon/intron table
Associated with diseases IRIDA
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 130
Unique public DNA variants reported 79
Individuals with public variants 114
Hidden variants 4
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created April 29, 2010
Date last updated November 01, 2022
Version TMPRSS6:221101

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_153609.2.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL https://www.LOVD.nl/TMPRSS6
HGNC 16517
Entrez Gene 164656
PubMed articles TMPRSS6
OMIM - Gene 609862
OMIM - Diseases IRIDA (anemia, iron deficiency, iron-refractory (IRIDA))
HGMD TMPRSS6
GeneCards TMPRSS6
GeneTests TMPRSS6
Orphanet TMPRSS6


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00021508 22 transmembrane protease, serine 6 NM_153609.2 NP_705837.1 130


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