U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
    • Showing Current items.

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

    Gene ID: 164656, updated on 22-Apr-2024

    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; AllianceGenome:HGNC:16517
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    22q12.3
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (37065436..37110536, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (37525034..37570488, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (37461476..37505753, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC112268295 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:37428845-37429362 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:37429455-37430120 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37439765-37440678 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13677 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37447950-37448667 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37448668-37449384 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37456737-37457594 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37457595-37458452 Neighboring gene RN7SK pseudogene 214 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37459305-37460128 Neighboring gene potassium channel tetramerization domain containing 17 Neighboring gene uncharacterized LOC124905113 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37473809-37474310 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37476421-37477401 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:37483940-37485139 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:37494011-37494516 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37503983-37504484 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18943 Neighboring gene interleukin 2 receptor subunit beta Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18944 Neighboring gene IL2RB promoter Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18945 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18946 Neighboring gene IL2RB LTR promoter Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37575666-37576526 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37576527-37577386 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:37583391-37584026 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:37584027-37584660 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:37584661-37585296 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr22:37585297-37585930 Neighboring gene C1q and TNF related 6 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:37593748-37594318 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:37594319-37594888

    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
    Iron-refractory iron deficiency anemia
    MedGen: C0085576 OMIM: 206200 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metalloendopeptidase activity TAS
    Traceable Author Statement
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables serine-type endopeptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in 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)

    NEW Try the new Transcript table

    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
      4851..49128
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1128

    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
      B0QYB4, B0QYB7, B0QYB8, Q5TI06, Q6ICC2, Q6UXD8, Q8IU80, Q8IUE2, Q8IXV8
      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
      B0QYB4, B0QYB7, B0QYB8, Q5TI06, Q6ICC2, Q6UXD8, Q8IU80, Q8IUE2, Q8IXV8
      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:77134
      SEA; SEA domain
    3. NM_001374504.1NP_001361433.1  transmembrane protease serine 6 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL022314
      Consensus CDS
      CCDS74856.1
      UniProtKB/Swiss-Prot
      B0QYB4, B0QYB7, B0QYB8, Q5TI06, Q6ICC2, Q6UXD8, Q8IU80, Q8IUE2, Q8IXV8
      Related
      ENSP00000501573.1, ENST00000676104.1
      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:77134
      SEA; SEA domain
    4. NM_153609.4NP_705837.2  transmembrane protease serine 6 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL022314
      Consensus CDS
      CCDS74856.1
      UniProtKB/Swiss-Prot
      B0QYB4, B0QYB7, B0QYB8, Q5TI06, Q6ICC2, Q6UXD8, Q8IU80, Q8IUE2, Q8IXV8
      Related
      ENSP00000334962.6, ENST00000346753.9
      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:77134
      SEA; SEA domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      37065436..37110536 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024452167.2XP_024307935.1  transmembrane protease serine 6 isoform X1

      UniProtKB/Swiss-Prot
      B0QYB4, B0QYB7, B0QYB8, Q5TI06, Q6ICC2, Q6UXD8, Q8IU80, Q8IUE2, Q8IXV8
      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
    2. XM_047441170.1XP_047297126.1  transmembrane protease serine 6 isoform X3

    3. XM_011529989.3XP_011528291.1  transmembrane protease serine 6 isoform X2

      UniProtKB/Swiss-Prot
      B0QYB4, B0QYB7, B0QYB8, Q5TI06, Q6ICC2, Q6UXD8, Q8IU80, Q8IUE2, Q8IXV8
      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_047441171.1XP_047297127.1  transmembrane protease serine 6 isoform X3

    5. XM_024452168.2XP_024307936.1  transmembrane protease serine 6 isoform X1

      UniProtKB/Swiss-Prot
      B0QYB4, B0QYB7, B0QYB8, Q5TI06, Q6ICC2, Q6UXD8, Q8IU80, Q8IUE2, Q8IXV8
      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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      37525034..37570488 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054325197.1XP_054181172.1  transmembrane protease serine 6 isoform X1

    2. XM_054325199.1XP_054181174.1  transmembrane protease serine 6 isoform X3

    3. XM_054325198.1XP_054181173.1  transmembrane protease serine 6 isoform X2

    4. XM_054325200.1XP_054181175.1  transmembrane protease serine 6 isoform X3

    5. XM_054325196.1XP_054181171.1  transmembrane protease serine 6 isoform X1

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_153019.2: Suppressed sequence

      Description
      NM_153019.2: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.