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Aliases for TMPRSS6 Gene

Aliases for TMPRSS6 Gene

  • Transmembrane Protease, Serine 6 2 3 5
  • Matriptase-2 2 3 4
  • Membrane-Bound Mosaic Serine Proteinase Matriptase-2 3
  • Type II Transmembrane Serine Protease 6 3
  • Transmembrane Protease Serine 6 3
  • EC 3.4.21.- 4
  • EC 3.4.21 58
  • IRIDA 3

External Ids for TMPRSS6 Gene

Previous GeneCards Identifiers for TMPRSS6 Gene

  • GC22M034080
  • GC22P035703
  • GC22M035705
  • GC22M035706
  • GC22M035785
  • GC22M037461
  • GC22M020426

Summaries for TMPRSS6 Gene

Entrez Gene Summary for TMPRSS6 Gene

  • The protein encoded by this gene is a type II transmembrane serine proteinase that is found attached to the cell surface. The encoded protein may be involved in matrix remodeling processes in the liver. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

GeneCards Summary for TMPRSS6 Gene

TMPRSS6 (Transmembrane Protease, Serine 6) is a Protein Coding gene. Diseases associated with TMPRSS6 include Iron-Refractory Iron Deficiency Anemia and Microcytic Anemia. Among its related pathways are Degradation of the extracellular matrix and Hfe effect on hepcidin production. GO annotations related to this gene include serine-type endopeptidase activity. An important paralog of this gene is ST14.

UniProtKB/Swiss-Prot for TMPRSS6 Gene

  • Serine protease which hydrolyzes a range of proteins including type I collagen, fibronectin and fibrinogen. Can also activate urokinase-type plasminogen activator with low efficiency. May play a specialized role in matrix remodeling processes in liver. Through the cleavage of HFE2, a regulator of the expression of the iron absorption-regulating hormone hepicidin/HAMP, plays a role in iron homeostasis.

Gene Wiki entry for TMPRSS6 Gene

Additional gene information for TMPRSS6 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMPRSS6 Gene

Genomics for TMPRSS6 Gene

Regulatory Elements for TMPRSS6 Gene

Enhancers for TMPRSS6 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH22H037030 1.9 FANTOM5 Ensembl ENCODE dbSUPER 15.2 +77.1 77073 5 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 SLC30A9 TMPRSS6 MPST TEX33 ENSG00000231467 NCF4-AS1 NCF4 IL2RB ENSG00000229971 TST CARD10
GH22H037182 1.8 FANTOM5 Ensembl ENCODE dbSUPER 11.5 -76.2 -76228 8 PKNOX1 NFIB KLF17 BMI1 RAD21 ZEB1 GLIS2 ZNF366 SCRT2 ZNF350 C1QTNF6 ENSG00000235237 TMPRSS6 ENSG00000231467 CYTH4 APOL4 CARD10 ENSG00000226233 ENSG00000229971 IL2RB
GH22H037014 1.6 Ensembl ENCODE dbSUPER 11.3 +90.0 89962 12 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 ZNF143 ENSG00000229971 MPST RBFOX2 LL22NC01-81G9.3 KCTD17 ENSG00000231467 TMPRSS6 NCF4-AS1 NCF4 IL2RB
GH22H037191 1.6 Ensembl ENCODE dbSUPER 11.1 -85.8 -85843 9 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 C1QTNF6 EIF3D IL2RB ENSG00000235237 TMPRSS6 ENSG00000231467 PICK1 EIF3L CYTH4 SSTR3
GH22H037161 1.5 FANTOM5 ENCODE dbSUPER 10.9 -52.7 -52672 4 HDGF PKNOX1 TBL1XR1 RB1 ZFP64 BMI1 YBX1 BATF ZNF143 ATF7 IL2RB TMPRSS6 ENSG00000231467 C1QTNF6 MFNG RAC2 SH3BP1 ENSG00000235237
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TMPRSS6 on UCSC Golden Path with GeneCards custom track

Genomic Location for TMPRSS6 Gene

Chromosome:
22
Start:
37,065,436 bp from pter
End:
37,110,635 bp from pter
Size:
45,200 bases
Orientation:
Minus strand

Genomic View for TMPRSS6 Gene

Genes around TMPRSS6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMPRSS6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMPRSS6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMPRSS6 Gene

Proteins for TMPRSS6 Gene

  • Protein details for TMPRSS6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IU80-TMPS6_HUMAN
    Recommended name:
    Transmembrane protease serine 6
    Protein Accession:
    Q8IU80
    Secondary Accessions:
    • B0QYB4
    • B0QYB7
    • B0QYB8
    • Q5TI06
    • Q6ICC2
    • Q6UXD8
    • Q8IUE2
    • Q8IXV8

    Protein attributes for TMPRSS6 Gene

    Size:
    811 amino acids
    Molecular mass:
    90000 Da
    Quaternary structure:
    • Interacts with HFE2.

    Alternative splice isoforms for TMPRSS6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TMPRSS6 Gene

Selected DME Specific Peptides for TMPRSS6 Gene

Q8IU80:
  • DACQGDSGG
  • GDSGGPL
  • SGGPLVC
  • TPRMLCAG
  • CQGDSGGP

Post-translational modifications for TMPRSS6 Gene

  • The single-chain zymogen undergoes autoproteolytic processing. This results in TMPRSS6 shedding from the cell surface and conversion into an activated two-chains form which is released extracellularly. The process involves a trans-activation mechanism that requires TMPRSS6 oligomerization.
  • Glycosylation at posLast=127127, Asn175, Asn207, posLast=329329, posLast=424424, posLast=444444, and posLast=509509
  • Modification sites at PhosphoSitePlus

Domains & Families for TMPRSS6 Gene

Gene Families for TMPRSS6 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for TMPRSS6 Gene

Graphical View of Domain Structure for InterPro Entry

Q8IU80

UniProtKB/Swiss-Prot:

TMPS6_HUMAN :
  • Cytoplasmic domain mediates HAMP suppression via proximal promoter element(s).
  • Belongs to the peptidase S1 family.
Domain:
  • Cytoplasmic domain mediates HAMP suppression via proximal promoter element(s).
Family:
  • Belongs to the peptidase S1 family.
genes like me logo Genes that share domains with TMPRSS6: view

Function for TMPRSS6 Gene

Molecular function for TMPRSS6 Gene

UniProtKB/Swiss-Prot Function:
Serine protease which hydrolyzes a range of proteins including type I collagen, fibronectin and fibrinogen. Can also activate urokinase-type plasminogen activator with low efficiency. May play a specialized role in matrix remodeling processes in liver. Through the cleavage of HFE2, a regulator of the expression of the iron absorption-regulating hormone hepicidin/HAMP, plays a role in iron homeostasis.

Enzyme Numbers (IUBMB) for TMPRSS6 Gene

Phenotypes From GWAS Catalog for TMPRSS6 Gene

Gene Ontology (GO) - Molecular Function for TMPRSS6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004222 metalloendopeptidase activity TAS --
GO:0004252 serine-type endopeptidase activity IDA 12149247
GO:0005515 protein binding IPI 19357398
GO:0008233 peptidase activity IEA --
GO:0008236 serine-type peptidase activity IEA --
genes like me logo Genes that share ontologies with TMPRSS6: view
genes like me logo Genes that share phenotypes with TMPRSS6: view

Human Phenotype Ontology for TMPRSS6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TMPRSS6 Gene

MGI Knock Outs for TMPRSS6:

Animal Model Products

  • Taconic Biosciences Mouse Models for TMPRSS6

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for TMPRSS6
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Transcription Factor Targets and HOMER Transcription for TMPRSS6 Gene

Localization for TMPRSS6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMPRSS6 Gene

Cell membrane; Single-pass type II membrane protein. Note=The processed, activated two-chains form is released in the extracellular space. {ECO:0000269 PubMed:25156943}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TMPRSS6 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytosol 2
mitochondrion 1
nucleus 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for TMPRSS6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 25156943
GO:0005622 intracellular IEA --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA,IDA 12149247
genes like me logo Genes that share ontologies with TMPRSS6: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TMPRSS6 Gene

Pathways & Interactions for TMPRSS6 Gene

genes like me logo Genes that share pathways with TMPRSS6: view

Pathways by source for TMPRSS6 Gene

Gene Ontology (GO) - Biological Process for TMPRSS6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter ISS --
GO:0001525 angiogenesis NAS 12149247
GO:0006508 proteolysis IDA 12149247
GO:0006879 cellular iron ion homeostasis IEA,ISS --
GO:0022617 extracellular matrix disassembly TAS --
genes like me logo Genes that share ontologies with TMPRSS6: view

No data available for SIGNOR curated interactions for TMPRSS6 Gene

Drugs & Compounds for TMPRSS6 Gene

(2) Drugs for TMPRSS6 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for TMPRSS6 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
genes like me logo Genes that share compounds with TMPRSS6: view

Transcripts for TMPRSS6 Gene

Unigene Clusters for TMPRSS6 Gene

Transmembrane protease, serine 6:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for TMPRSS6
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for TMPRSS6 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10
SP1:
SP2:

Relevant External Links for TMPRSS6 Gene

GeneLoc Exon Structure for
TMPRSS6
ECgene alternative splicing isoforms for
TMPRSS6

Expression for TMPRSS6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TMPRSS6 Gene

mRNA differential expression in normal tissues according to GTEx for TMPRSS6 Gene

This gene is overexpressed in Liver (x36.5) and Pituitary (x4.9).

Protein differential expression in normal tissues from HIPED for TMPRSS6 Gene

This gene is overexpressed in Liver (35.2), Serum (27.5), and Gallbladder (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for TMPRSS6 Gene



Protein tissue co-expression partners for TMPRSS6 Gene

NURSA nuclear receptor signaling pathways regulating expression of TMPRSS6 Gene:

TMPRSS6

SOURCE GeneReport for Unigene cluster for TMPRSS6 Gene:

Hs.370885

mRNA Expression by UniProt/SwissProt for TMPRSS6 Gene:

Q8IU80-TMPS6_HUMAN
Tissue specificity: Liver specific.

Evidence on tissue expression from TISSUES for TMPRSS6 Gene

  • Nervous system(4)
  • Liver(3.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TMPRSS6 Gene

Germ Layers:
  • mesoderm
Systems:
  • cardiovascular
  • digestive
Organs:
General:
  • blood
  • red blood cell
genes like me logo Genes that share expression patterns with TMPRSS6: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for TMPRSS6 Gene

Orthologs for TMPRSS6 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TMPRSS6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TMPRSS6 33 34
  • 99.36 (n)
dog
(Canis familiaris)
Mammalia TMPRSS6 33 34
  • 90.54 (n)
cow
(Bos Taurus)
Mammalia TMPRSS6 33 34
  • 88.25 (n)
mouse
(Mus musculus)
Mammalia Tmprss6 33 16 34
  • 83.83 (n)
rat
(Rattus norvegicus)
Mammalia Tmprss6 33
  • 83.77 (n)
oppossum
(Monodelphis domestica)
Mammalia TMPRSS6 34
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TMPRSS6 34
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves TMPRSS6 33 34
  • 71.36 (n)
lizard
(Anolis carolinensis)
Reptilia TMPRSS6 34
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tmprss6 33
  • 59.35 (n)
zebrafish
(Danio rerio)
Actinopterygii tmprss15 34
  • 18 (a)
ManyToMany
Species where no ortholog for TMPRSS6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TMPRSS6 Gene

ENSEMBL:
Gene Tree for TMPRSS6 (if available)
TreeFam:
Gene Tree for TMPRSS6 (if available)

Paralogs for TMPRSS6 Gene

genes like me logo Genes that share paralogs with TMPRSS6: view

Variants for TMPRSS6 Gene

Sequence variations from dbSNP and Humsavar for TMPRSS6 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs137853119 Pathogenic, Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200] 37,075,180(-) TCACC(A/G)GGCCC reference, missense
rs137853120 Pathogenic, Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200] 37,073,553(-) GCAGC(A/G)ACGAA reference, missense
rs199474802 Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200] 37,089,737(-) CCGGC(C/T)GAAGG intron-variant, reference, missense
rs199474803 Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200] 37,098,439(-) GCAGT(A/G)AAACC reference, missense
rs199474804 Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200] 37,075,251(-) GCCCT(A/G)CGCCG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for TMPRSS6 Gene

Variant ID Type Subtype PubMed ID
esv24599 CNV loss 19812545
esv2724207 CNV deletion 23290073
esv34015 CNV loss 18971310
esv3647703 CNV loss 21293372
nsv1143034 CNV tandem duplication 24896259
nsv459882 CNV gain 19166990
nsv477331 CNV novel sequence insertion 20440878
nsv588984 CNV gain 21841781
nsv588985 CNV loss 21841781
nsv829203 CNV loss 20364138
nsv834187 CNV loss 17160897
nsv955155 CNV deletion 24416366

Variation tolerance for TMPRSS6 Gene

Residual Variation Intolerance Score: 78.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.18; 61.79% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TMPRSS6 Gene

Human Gene Mutation Database (HGMD)
TMPRSS6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMPRSS6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMPRSS6 Gene

Disorders for TMPRSS6 Gene

MalaCards: The human disease database

(7) MalaCards diseases for TMPRSS6 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
iron-refractory iron deficiency anemia
  • anemia, hypochromic microcytic, with defect in iron metabolism
microcytic anemia
  • iron-refractory iron deficiency anemia
iron deficiency anemia
deficiency anemia
  • anemia
hypochromic microcytic anemia
  • anemia, hypochromic microcytic
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

TMPS6_HUMAN
  • Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200]: Key features include congenital hypochromic microcytic anemia, very low mean corpuscular erythrocyte volume, low transferrin saturation, abnormal iron absorption characterized by no hematologic improvement following treatment with oral iron, and abnormal iron utilization characterized by a sluggish, incomplete response to parenteral iron. {ECO:0000269 PubMed:18408718, ECO:0000269 PubMed:18603562, ECO:0000269 PubMed:19357398, ECO:0000269 PubMed:19592582, ECO:0000269 PubMed:19708871, ECO:0000269 PubMed:19747362, ECO:0000269 PubMed:20232450, ECO:0000269 PubMed:20704562, ECO:0000269 PubMed:21618415, ECO:0000269 PubMed:22581667, ECO:0000269 PubMed:25156943, ECO:0000269 PubMed:25588876}. Note=The disease is caused by mutations affecting the gene represented in this entry. Mutations leading to abrogation of TMPRSS6 activity are associated with IRIDA due to elevated levels of hepcidin, a negative regulator of plasma iron pool (PubMed:20232450). {ECO:0000269 PubMed:20232450}.

Relevant External Links for TMPRSS6

Genetic Association Database (GAD)
TMPRSS6
Human Genome Epidemiology (HuGE) Navigator
TMPRSS6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TMPRSS6
genes like me logo Genes that share disorders with TMPRSS6: view

No data available for Genatlas for TMPRSS6 Gene

Publications for TMPRSS6 Gene

  1. Polymorphisms and mutations of human TMPRSS6 in iron deficiency anemia. (PMID: 19818657) Beutler E … Lee PL (Blood cells, molecules & diseases 2010) 3 4 45 60
  2. Novel TMPRSS6 mutations associated with iron-refractory iron deficiency anemia (IRIDA). (PMID: 20232450) De Falco L … Iolascon A (Human mutation 2010) 3 4 22 60
  3. A genome-wide association analysis of serum iron concentrations. (PMID: 19880490) Tanaka T … Ferrucci L (Blood 2010) 3 22 45 60
  4. Haematologic data, iron parameters and molecular findings in two new cases of iron-refractory iron deficiency anaemia. (PMID: 19708871) Tchou I … Beris P (European journal of haematology 2009) 3 4 22 60
  5. Matriptase-2 mutations in iron-refractory iron deficiency anemia patients provide new insights into protease activation mechanisms. (PMID: 19592582) Ramsay AJ … López-Otín C (Human molecular genetics 2009) 3 4 22 60

Products for TMPRSS6 Gene

Sources for TMPRSS6 Gene

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