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
Associated with diseases IRIDA
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 112
Unique public DNA variants reported 68
Individuals with public variants 64
Hidden variants 2
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 October 31, 2014
Version TMPRSS6:141031

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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 http://www.LOVD.nl/TMPRSS6
External URL Orphanet
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


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00021508 22 transmembrane protease, serine 6 NM_153609.2 NP_705837.1 112


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