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Tmprss6 Gene Detail
Summary
  • Symbol
    Tmprss6
  • Name
    transmembrane serine protease 6
  • Synonyms
    1300008A22Rik, matriptase-2
  • Feature Type
    protein coding gene
  • IDs
    MGI:1919003
    NCBI Gene: 71753
  • Gene Overview
    MyGene.info: TMPRSS6
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr15:78439667-78468634 bp, - strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      28968 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 15, 37.49 cM, cytoband E2
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    TMPRSS6, transmembrane serine protease 6
  • Vertebrate Orthologs
    9
  • Human Ortholog
    TMPRSS6, transmembrane serine protease 6
    Orthology source: HomoloGene, HGNC
  • Synonyms
    IRIDA
  • Links
    NCBI Gene ID: 164656
    neXtProt AC: NX_Q8IU80
    UniProt: Q8IU80

  • Chr Location
    22q12.3; chr22:37065436-37109701 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with human TMPRSS6 associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    41 phenotypes from 7 alleles in 10 genetic backgrounds
    29 phenotypes from multigenic genotypes
    54 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000016942 Ensembl Gene Model | MGI Sequence Detail 28968 C57BL/6J ±  kb
    transcript ENSMUST00000017086 Ensembl | MGI Sequence Detail 3192 Not Applicable  
    polypeptide ENSMUSP00000017086 Ensembl | MGI Sequence Detail 811 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      162 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 69
      cDNA 68
      Primer pair 1

      Microarray probesets 3
    References
    more
    • Summaries
      All 84
      Developmental Gene Expression 3
      Diseases 1
      Gene Ontology 7
      Phenotypes 54
    • Earliest
      J:7688 Lane PW, et al., Association of megacolon with a new dominant spotting gene (Dom) in the mouse. J Hered. 1984 Nov-Dec;75(6):435-9
    • Latest
      J:265428 Folgueras AR, et al., Matriptase-2 deficiency protects from obesity by modulating iron homeostasis. Nat Commun. 2018 Apr 10;9(1):1350

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
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    last database update
    10/09/2018
    MGI 6.12
    The Jackson Laboratory