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    TMPRSS4 transmembrane serine protease 4 [ Homo sapiens (human) ]

    Gene ID: 56649, updated on 3-Dec-2024

    Summary

    Official Symbol
    TMPRSS4provided by HGNC
    Official Full Name
    transmembrane serine protease 4provided by HGNC
    Primary source
    HGNC:HGNC:11878
    See related
    Ensembl:ENSG00000137648 MIM:606565; AllianceGenome:HGNC:11878
    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
    CAP2; CAPH2; MT-SP2; TMPRSS3
    Summary
    This gene encodes a member of the serine protease family. Serine proteases are known to be involved in a variety of biological processes, whose malfunction often leads to human diseases and disorders. This gene was identified as a gene overexpressed in pancreatic carcinoma. The encoded protein is membrane bound with a N-terminal anchor sequence and a glycosylated extracellular region containing the serine protease domain. The protein has been found to promote SARS-CoV-2 entry into host cells. [provided by RefSeq, Aug 2021]
    Annotation information
    Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in SARS-CoV-2 infection.
    Expression
    Biased expression in colon (RPKM 31.0), urinary bladder (RPKM 28.2) and 8 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See TMPRSS4 in Genome Data Viewer
    Location:
    11q23.3
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (118077078..118125505)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (118093464..118141906)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (117947793..117992605)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3941 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5580 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_19171 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117869597-117870098 Neighboring gene interleukin 10 receptor subunit alpha Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3942 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5581 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117881450-117881950 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_19207 Neighboring gene small integral membrane protein 35 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5582 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117935307-117935808 Neighboring gene RNA, 7SL, cytoplasmic 828, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117947648-117948243 Neighboring gene Sharpr-MPRA regulatory region 13014 Neighboring gene uncharacterized LOC105369517 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_19222 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:118000597-118001098 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:118001099-118001598 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:118014519-118015718 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5583 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3943 Neighboring gene sodium voltage-gated channel beta subunit 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:118024156-118024656 Neighboring gene sodium voltage-gated channel beta subunit 2

    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?

    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 protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables serine-type endopeptidase activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables serine-type peptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in secretory granule IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    transmembrane protease serine 4
    Names
    channel-activating protease 2
    channel-activating serine protease 2
    membrane-type serine protease 2
    transmembrane protease, serine 4
    transmembrane serine protease 3
    type II membrane serine protease

    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_011858.3 RefSeqGene

      Range
      5002..49814
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001083947.2NP_001077416.2  transmembrane protease serine 4 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice site in the central coding region, compared to variant 1, resulting in a shorter protein (isoform 3). The splice acceptor site used for the first intron of this variant is polymorphic in the human population (rs2276122), and it is not known if this variant can be expressed from individuals with the 'A' allele.
      Source sequence(s)
      AP000665, AP002800
      Consensus CDS
      CCDS44743.1
      UniProtKB/TrEMBL
      B7Z8X1
      Related
      ENSP00000430547.1, ENST00000522824.5
      Conserved Domains (3) summary
      smart00020
      Location:199424
      Tryp_SPc; Trypsin-like serine protease
      cd00112
      Location:5892
      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 ...
      cl02509
      Location:108192
      SRCR_2; Scavenger receptor cysteine-rich domain
    2. NM_001173551.2NP_001167022.2  transmembrane protease serine 4 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. The resulting isoform (4) lacks an internal 3-aa segment, compared to isoform 1.
      Source sequence(s)
      AP000665, AP002800
      Consensus CDS
      CCDS53716.1
      UniProtKB/TrEMBL
      B7Z8X1
      Related
      ENSP00000435184.1, ENST00000534111.5
      Conserved Domains (3) summary
      smart00020
      Location:202427
      Tryp_SPc; Trypsin-like serine protease
      cd00112
      Location:5690
      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 ...
      cl02509
      Location:106195
      SRCR_2; Scavenger receptor cysteine-rich domain
    3. NM_001173552.2NP_001167023.2  transmembrane protease serine 4 isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) uses an alternate in-frame splice site and lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. The resulting isoform (5) lacks two internal segments, compared to isoform 1.
      Source sequence(s)
      AP000665, AP002800
      Consensus CDS
      CCDS53717.1
      UniProtKB/TrEMBL
      A0A087WTU6
      Related
      ENSP00000429209.1, ENST00000523251.5
      Conserved Domains (3) summary
      smart00020
      Location:164389
      Tryp_SPc; Trypsin-like serine protease
      cd00112
      Location:1852
      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 ...
      cl02509
      Location:68157
      SRCR_2; Scavenger receptor cysteine-rich domain
    4. NM_001290094.2NP_001277023.2  transmembrane protease serine 4 isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) uses an alternate splice junction at the end of a 5' exon compared to variant 1. The resulting isoform (6) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AP000665, AP002800
      UniProtKB/TrEMBL
      B7Z900
      Conserved Domains (3) summary
      smart00020
      Location:179404
      Tryp_SPc; Trypsin-like serine protease
      cd00112
      Location:3367
      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 ...
      cl02509
      Location:83172
      SRCR_2; Scavenger receptor cysteine-rich domain
    5. NM_001290096.2NP_001277025.2  transmembrane protease serine 4 isoform 7

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) uses alternate splice junctions at the ends of three different exons compared to variant 1. The resulting isoform (7) is shorter at the N-terminus and lacks a short internal segment compared to isoform 1.
      Source sequence(s)
      AP000665, AP002800
      Consensus CDS
      CCDS76482.1
      UniProtKB/TrEMBL
      B7Z458, E7ESG9
      Related
      ENSP00000428814.1, ENST00000522307.5
      Conserved Domains (1) summary
      smart00020
      Location:57282
      Tryp_SPc; Trypsin-like serine protease
    6. NM_019894.4NP_063947.2  transmembrane protease serine 4 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1). The splice acceptor site used for the first intron of this variant is polymorphic in the human population (rs2276122), and it is not known if this variant can be expressed from individuals with the 'A' allele.
      Source sequence(s)
      AP000665, AP002800
      Consensus CDS
      CCDS31684.1
      UniProtKB/Swiss-Prot
      A8MU84, B0YJB0, B7Z8C5, E7ERX8, Q5XKQ6, Q6UX37, Q9NRS4, Q9NZA5
      UniProtKB/TrEMBL
      B7Z8X1
      Related
      ENSP00000416037.3, ENST00000437212.8
      Conserved Domains (3) summary
      smart00020
      Location:204429
      Tryp_SPc; Trypsin-like serine protease
      cd00112
      Location:5892
      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 ...
      pfam15494
      Location:108197
      SRCR_2; Scavenger receptor cysteine-rich domain

    RNA

    1. NR_110734.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice junction at the end of a 5' exon and lacks an alternate 3' exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AP000665, AP002800

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      118077078..118125505
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005271613.5XP_005271670.1  transmembrane protease serine 4 isoform X1

      UniProtKB/TrEMBL
      B7Z8X1
      Conserved Domains (4) summary
      smart00020
      Location:204429
      Tryp_SPc; Trypsin-like serine protease
      cd00112
      Location:5892
      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:205432
      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 ...
      cl02509
      Location:108197
      SRCR_2; Scavenger receptor cysteine-rich domain
    2. XM_011542901.3XP_011541203.1  transmembrane protease serine 4 isoform X3

      UniProtKB/TrEMBL
      B7Z8X1
      Conserved Domains (4) summary
      smart00020
      Location:199424
      Tryp_SPc; Trypsin-like serine protease
      cd00112
      Location:5892
      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:200427
      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 ...
      cl02509
      Location:108192
      SRCR_2; Scavenger receptor cysteine-rich domain
    3. XM_011542902.3XP_011541204.1  transmembrane protease serine 4 isoform X5

      UniProtKB/TrEMBL
      A0A087WTU6
      Conserved Domains (4) summary
      smart00020
      Location:166391
      Tryp_SPc; Trypsin-like serine protease
      cd00112
      Location:2054
      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:167394
      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 ...
      cl02509
      Location:70159
      SRCR_2; Scavenger receptor cysteine-rich domain
    4. XM_005271614.4XP_005271671.1  transmembrane protease serine 4 isoform X2

      See identical proteins and their annotated locations for XP_005271671.1

      UniProtKB/TrEMBL
      B7Z8X1
      Conserved Domains (4) summary
      smart00020
      Location:202427
      Tryp_SPc; Trypsin-like serine protease
      cd00112
      Location:5690
      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:203430
      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 ...
      cl02509
      Location:106195
      SRCR_2; Scavenger receptor cysteine-rich domain
    5. XM_047427259.1XP_047283215.1  transmembrane protease serine 4 isoform X4

      UniProtKB/TrEMBL
      B7Z8X1
    6. XM_005271615.4XP_005271672.1  transmembrane protease serine 4 isoform X6

      UniProtKB/TrEMBL
      A0A087WTU6
      Conserved Domains (4) summary
      smart00020
      Location:164389
      Tryp_SPc; Trypsin-like serine protease
      cd00112
      Location:1852
      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:165392
      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 ...
      cl02509
      Location:68157
      SRCR_2; Scavenger receptor cysteine-rich domain
    7. XM_047427260.1XP_047283216.1  transmembrane protease serine 4 isoform X7

      UniProtKB/TrEMBL
      B7Z8X1
    8. XM_011542903.4XP_011541205.1  transmembrane protease serine 4 isoform X8

      UniProtKB/TrEMBL
      A0AAQ5BHV3, A0AAQ5BHV4
      Related
      ENSP00000519645.1, ENST00000714378.1
      Conserved Domains (3) summary
      cd00112
      Location:5892
      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 ...
      cl02509
      Location:108197
      SRCR_2; Scavenger receptor cysteine-rich domain
      cl21584
      Location:205304
      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 ...
    9. XM_011542904.3XP_011541206.1  transmembrane protease serine 4 isoform X9

      Conserved Domains (2) summary
      cd00112
      Location:5892
      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 ...
      cl02509
      Location:108197
      SRCR_2; Scavenger receptor cysteine-rich domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      118093464..118141906
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054369356.1XP_054225331.1  transmembrane protease serine 4 isoform X1

      UniProtKB/TrEMBL
      B7Z8X1
    2. XM_054369358.1XP_054225333.1  transmembrane protease serine 4 isoform X3

      UniProtKB/TrEMBL
      B7Z8X1
    3. XM_054369360.1XP_054225335.1  transmembrane protease serine 4 isoform X5

      UniProtKB/TrEMBL
      A0A087WTU6
    4. XM_054369357.1XP_054225332.1  transmembrane protease serine 4 isoform X2

      UniProtKB/TrEMBL
      B7Z8X1
    5. XM_054369359.1XP_054225334.1  transmembrane protease serine 4 isoform X4

      UniProtKB/TrEMBL
      B7Z8X1
    6. XM_054369361.1XP_054225336.1  transmembrane protease serine 4 isoform X6

      UniProtKB/TrEMBL
      A0A087WTU6
    7. XM_054369362.1XP_054225337.1  transmembrane protease serine 4 isoform X7

      UniProtKB/TrEMBL
      B7Z8X1
    8. XM_054369363.1XP_054225338.1  transmembrane protease serine 4 isoform X8

      UniProtKB/TrEMBL
      A0AAQ5BHV3
    9. XM_054369364.1XP_054225339.1  transmembrane protease serine 4 isoform X9

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_183247.1: Suppressed sequence

      Description
      NM_183247.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.