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TMPRSS6 transmembrane serine protease 6 [ Homo sapiens (human) ]

Gene ID: 164656, updated on 28-Jun-2020

Summary

Official Symbol
TMPRSS6provided by HGNC
Official Full Name
transmembrane serine protease 6provided by HGNC
Primary source
HGNC:HGNC:16517
See related
Ensembl:ENSG00000187045 MIM:609862
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MT2; IRIDA
Summary
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]
Expression
Biased expression in liver (RPKM 19.4), stomach (RPKM 1.7) and 1 other tissue See more
Orthologs

Genomic context

See TMPRSS6 in Genome Data Viewer
Location:
22q12.3
Exon count:
23
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (37065436..37110625, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (37461476..37499693, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC112268295 Neighboring gene RN7SK pseudogene 214 Neighboring gene potassium channel tetramerization domain containing 17 Neighboring gene interleukin 2 receptor subunit beta Neighboring gene IL2RB promoter Neighboring gene IL2RB LTR promoter

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Microcytic anemia
MedGen: C0085576 OMIM: 206200 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
A genome-wide association analysis of serum iron concentrations.
NHGRI GWA Catalog
A genome-wide association study of red blood cell traits using the electronic medical record.
NHGRI GWA Catalog
A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.
NHGRI GWA Catalog
Association of HFE and TMPRSS6 genetic variants with iron and erythrocyte parameters is only in part dependent on serum hepcidin concentrations.
NHGRI GWA Catalog
Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways.
NHGRI GWA Catalog
Common variants in TMPRSS6 are associated with iron status and erythrocyte volume.
NHGRI GWA Catalog
Genome wide association analysis of a founder population identified TAF3 as a gene for MCHC in humans.
NHGRI GWA Catalog
Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels.
NHGRI GWA Catalog
Genome-wide association study of hematological and biochemical traits in a Japanese population.
NHGRI GWA Catalog
GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.
NHGRI GWA Catalog
Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels.
NHGRI GWA Catalog
Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.
NHGRI GWA Catalog
Novel association to the proprotein convertase PCSK7 gene locus revealed by analysing soluble transferrin receptor (sTfR) levels.
NHGRI GWA Catalog
Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.
NHGRI GWA Catalog
Sequence variants in three loci influence monocyte counts and erythrocyte volume.
NHGRI GWA Catalog
Seventy-five genetic loci influencing the human red blood cell.
NHGRI GWA Catalog
Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
serine-type endopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cellular iron ion homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
collagen catabolic process TAS
Traceable Author Statement
more info
 
extracellular matrix disassembly TAS
Traceable Author Statement
more info
 
iron ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
iron ion homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
membrane protein proteolysis IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of BMP signaling pathway IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of transcription, DNA-templated IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
self proteolysis IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
transmembrane protease serine 6
Names
matriptase-2
membrane-bound mosaic serine proteinase matriptase-2
transmembrane protease, serine 6
type II transmembrane serine protease 6

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012856.2 RefSeqGene

    Range
    10911..49128
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001289000.2NP_001275929.1  transmembrane protease serine 6 isoform 1

    See identical proteins and their annotated locations for NP_001275929.1

    Status: REVIEWED

    Source sequence(s)
    AL022314, AW295507
    Consensus CDS
    CCDS74857.1
    UniProtKB/Swiss-Prot
    Q8IU80
    Related
    ENSP00000384964.1, ENST00000406856.7
    Conserved Domains (5) summary
    cd00041
    Location:326440
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    cd00112
    Location:486516
    LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
    cd00190
    Location:568822
    Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
    pfam00057
    Location:520557
    Ldl_recept_a; Low-density lipoprotein receptor domain class A
    pfam01390
    Location:77177
    SEA; SEA domain
  2. NM_001289001.2NP_001275930.1  transmembrane protease serine 6 isoform 3

    See identical proteins and their annotated locations for NP_001275930.1

    Status: REVIEWED

    Source sequence(s)
    AL022314, AW295507, AY358398
    Consensus CDS
    CCDS74856.1
    UniProtKB/Swiss-Prot
    Q8IU80
    Related
    ENSP00000385453.1, ENST00000406725.6
    Conserved Domains (5) summary
    cd00041
    Location:326440
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    cd00112
    Location:486516
    LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
    cd00190
    Location:568800
    Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
    pfam00057
    Location:520557
    Ldl_recept_a; Low-density lipoprotein receptor domain class A
    pfam01390
    Location:77177
    SEA; SEA domain
  3. NM_001374504.1NP_001361433.1  transmembrane protease serine 6 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL022314
  4. NM_153609.4NP_705837.2  transmembrane protease serine 6 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL022314
    Consensus CDS
    CCDS13941.1
    Related
    ENSP00000334962.5, ENST00000346753.8

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    37065436..37110625 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024452167.1XP_024307935.1  transmembrane protease serine 6 isoform X1

    Conserved Domains (5) summary
    cd00041
    Location:326440
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    cd00112
    Location:486516
    LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
    cd00190
    Location:568822
    Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
    pfam00057
    Location:520557
    Ldl_recept_a; Low-density lipoprotein receptor domain class A
    pfam01390
    Location:77177
    SEA; SEA domain
  2. XM_024452169.1XP_024307937.1  transmembrane protease serine 6 isoform X1

    Related
    ENSP00000371211.2, ENST00000381792.6
    Conserved Domains (5) summary
    cd00041
    Location:326440
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    cd00112
    Location:486516
    LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
    cd00190
    Location:568822
    Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
    pfam00057
    Location:520557
    Ldl_recept_a; Low-density lipoprotein receptor domain class A
    pfam01390
    Location:77177
    SEA; SEA domain
  3. XM_011529989.2XP_011528291.1  transmembrane protease serine 6 isoform X3

    Conserved Domains (6) summary
    smart00020
    Location:423675
    Tryp_SPc; Trypsin-like serine protease
    cd00112
    Location:342372
    LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
    cd00190
    Location:424678
    Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
    pfam00057
    Location:376413
    Ldl_recept_a; Low-density lipoprotein receptor domain class A
    pfam01390
    Location:77134
    SEA; SEA domain
    cl00049
    Location:182296
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
  4. XM_024452168.1XP_024307936.1  transmembrane protease serine 6 isoform X1

    Conserved Domains (5) summary
    cd00041
    Location:326440
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    cd00112
    Location:486516
    LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
    cd00190
    Location:568822
    Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
    pfam00057
    Location:520557
    Ldl_recept_a; Low-density lipoprotein receptor domain class A
    pfam01390
    Location:77177
    SEA; SEA domain
  5. XM_024452171.1XP_024307939.1  transmembrane protease serine 6 isoform X2

    Conserved Domains (5) summary
    cd00041
    Location:326440
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    cd00112
    Location:486516
    LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
    cd00190
    Location:568800
    Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
    pfam00057
    Location:520557
    Ldl_recept_a; Low-density lipoprotein receptor domain class A
    pfam01390
    Location:77177
    SEA; SEA domain
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