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Tmprss6
Gene Detail
Symbol

Name
ID
Tmprss6
transmembrane serine protease 6
MGI:1919003
Synonyms
1300008A22Rik, matriptase-2
Feature Type
protein coding gene
Genetic Map
Chromosome 15
37.49 cM, cytoband E2
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr15:78439668-78468634 bp, - strand
From Ensembl annotation of GRCm38

  28967 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:12408  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog

HCOP human homology predictions: TMPRSS6
Protein SuperFamily: matriptase-2
Gene Tree: Tmprss6

Human
homologs
TMPRSS6, transmembrane protease, serine 6
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 164656
neXtProt AC: NX_Q8IU80

Human Synonyms: IRIDA

Human Chr (Location): 22q12.3; chr22:37065436-37110635 (-)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human TMPRSS6

Mutations,
alleles, and
phenotypes
All mutations/alleles(12) : Chemically induced (ENU)(3) Gene trapped(2) Radiation induced(1) Targeted(6)
Genomic Mutations involving Tmprss6 (1)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Homozygosity for an inactivating mutation of this gene results in hair loss over the entire body except the face, microcytic anemia and female infertility, all reversible by dietary iron supplementation.
 
Phenotype Images(2)
Interactions
Tmprss6 interacts with 78 markers (Mir27a, Mir34a, Mir34c, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (23 annotations)
Process cellular iron ion homeostasis, fibrinolysis, ...
Component extracellular space, integral component of membrane, ...
Function hydrolase activity, peptidase activity, ...
External Resources: FuncBase
Expression
Literature Summary: (3 records)
cDNA source data(66)
Other mouse links: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(66) cDNA(66)
Microarray probesets(3)
Other database
links
Ensembl Gene Model ENSMUSG00000016942 (Evidence)
Entrez Gene 71753 (Evidence)
UniGene 34056
DFCI TC1579967
DoTS DT.101297023, DT.489908
NIA Mouse Gene Index U036382
EC 3.4.21.-
Consensus CDS Project CCDS37133.1
International Mouse Phenotyping Consortium Status Tmprss6
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000016942 Ensembl Gene Model | MGI Sequence Detail 28967 C57BL/6J ±  kb
transcript ENSMUST00000017086 Ensembl | MGI Sequence Detail 3191 Not Applicable 
polypeptide ENSMUSP00000017086 Ensembl | MGI Sequence Detail 811 Not Applicable 

For the selected sequences
All sequences(24) RefSeq(7) UniProt(1)
Polymorphisms
SNPs within 2kb(162 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR000859 CUB domain
InterPro IPR002172 Low-density lipoprotein (LDL) receptor class A repeat
InterPro IPR001254 Peptidase S1
InterPro IPR001314 Peptidase S1A, chymotrypsin-type
InterPro IPR017118 Peptidase S1A, matriptase-2
InterPro IPR018114 Peptidase S1, trypsin family, active site
InterPro IPR000082 SEA domain
InterPro IPR009003 Trypsin-like cysteine/serine peptidase domain
Protein Ontology PR:000016460 transmembrane protease serine 6
References
(Earliest) J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
(Latest) J:222266 Rausa M, et al., Bmp6 expression in murine liver non parenchymal cells: a mechanism to control their high iron exporter activity and protect hepatocytes from iron overload?. PLoS One. 2015;10(4):e0122696
All references(52)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/28/2015
MGI 5.22
The Jackson Laboratory