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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TMPRSS12 Gene

protein-coding   GIFtS: 46
GCID: GC12P051236

Transmembrane (C-Terminal) Protease, Serine 12

(Previous names: transmembrane protease, serine 12)
  Search for TMPRSS12
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Transmembrane (C-Terminal) Protease, Serine 121 2
Transmembrane Protease, Serine 121 2
Transmembrane Protease Serine 122
EC 3.4.21.-3
EC 3.4.218
EC 3.4.21.48

External Ids:    HGNC: 287791   Entrez Gene: 2834712   Ensembl: ENSG000001864527   UniProtKB: Q86WS53   

Export aliases for TMPRSS12 gene to outside databases

Previous GC identifers: GC12P049523 GC12P048269


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for TMPRSS12 Gene: 
TMPRSS12 (transmembrane (C-terminal) protease, serine 12) is a protein-coding gene. GO annotations related to this gene include serine-type endopeptidase activity. An important paralog of this gene is CFI.


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.2  NT_029419.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TMPRSS12 gene promoter:
         HFH-3   FOXI1   Pax-3   PPAR-gamma1   Brachyury   PPAR-gamma2   HNF-3beta   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTMPRSS12 promoter sequence
   Search SABiosciences Chromatin IP Primers for TMPRSS12

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TMPRSS12


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q13.12   Ensembl cytogenetic band:  12q13.12   HGNC cytogenetic band: 12q13.12

TMPRSS12 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TMPRSS12 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P051236:  view genomic region     (about GC identifiers)

Start:
51,236,701 bp from pter      End:
51,281,667 bp from pter
Size:
44,967 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: TMPSC_HUMAN, Q86WS5 (See protein sequence)
Recommended Name: Transmembrane protease serine 12 precursor  
Size: 348 amino acids; 38605 Da
Subcellular location: Membrane; Single-pass membrane protein (Potential)
Secondary accessions: B9ZVX2

Explore the universe of human proteins at neXtProt for TMPRSS12: NX_Q86WS5

Explore proteomics data for TMPRSS12 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q86WS5

  • 4 DME Specific Peptides for TMPRSS12 (Q86WS5)
     GDSGGPL  VLTAAHC  WVLTAAH  WVLTAAHCT 

    TMPRSS12 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TMPRSS12 Protein Expression
    REFSEQ proteins: NP_872365.1  
    ENSEMBL proteins: 
     ENSP00000447259   ENSP00000381476  

    Human Recombinant Protein Products for TMPRSS12: 
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    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral to membrane IEA--

    TMPRSS12 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    TMPRSS: Serine peptidases / Transmembrane

    4 InterPro protein domains:
     IPR001314 Peptidase_S1A
     IPR009003 Trypsin-like_Pept_dom
     IPR001254 Peptidase_S1
     IPR018114 Peptidase_S1_AS

    Graphical View of Domain Structure for InterPro Entry Q86WS5

    ProtoNet protein and cluster: Q86WS5

    2 Blocks protein domains:
    IPB001254 Serine protease
    IPB001314 Chymotrypsin serine protease family (S1) signature


    UniProtKB/Swiss-Prot: TMPSC_HUMAN, Q86WS5
    Similarity: Belongs to the peptidase S1 family
    Similarity: Contains 1 peptidase S1 domain


    TMPRSS12 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

         Enzyme Numbers (IUBMB): EC 3.4.21.42 EC 3.4.212 EC 3.4.21.-1

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004252serine-type endopeptidase activity IEA--
         
    TMPRSS12 for ontologies           About GeneDecksing


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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section




    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TMPRSS12

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis IEA--

    TMPRSS12 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for TMPRSS12 (TMPSC)

    Search CenterWatch for drugs/clinical trials and news about TMPRSS12 / TMPSC

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for TMPRSS12 gene: 
    NM_182559.2  

    Unigene Cluster for TMPRSS12:

    Transmembrane (C-terminal) protease, serine 12
    Hs.125571  [show with all ESTs]
    Unigene Representative Sequence: NM_182559
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000551456(uc001rwx.4 uc001rwy.3) ENST00000398458
    miRNA
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    hsa-miR-302f
    SwitchGear 3'UTR luciferase reporter plasmidTMPRSS12 3' UTR sequence
    Inhib. RNA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TMPRSS12
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    Additional mRNA sequence: BC048112.1 

    2 DOTS entries:

    DT.91965217  DT.101978411 

    16 AceView cDNA sequences:

    CR596226 BC035123 BG722203 BC048112 AA884376 BG722131 BU568547 CD557275 
    BM553993 NM_182559 BX118966 BI549447 AW664814 BX379643 BF364117 BF364116 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TMPRSS12 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGAACATTTT
    TMPRSS12 Expression
    About this image


    See TMPRSS12 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TMPRSS12

    SOURCE GeneReport for Unigene cluster: Hs.125571
        SABiosciences Custom PCR Arrays for TMPRSS12
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMPRSS12

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for TMPRSS12 gene from 5/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tmprss121 , 5 transmembrane (C-terminal) protease, serine 121, 5 72.44(n)1
    62.01(a)1
      15 (56.24 cM)5
    750021  NM_183109.31  NP_898932.21 
     1002808375 
    chicken
    (Gallus gallus)
    Aves TMPRSS121 transmembrane (C-terminal) protease, serine 12 54.87(n)
    49.62(a)
      426872  XM_424480.2  XP_424480.2 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    42(a)
    37(a)
    1 ↔ many
    1 ↔ many
    2(91098855-91105160)
    2(91002323-91009405)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1005364341 enteropeptidase-like 50.07(n)
    39.51(a)
      100536434  XM_003201209.1  XP_003201257.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG322601 CG32260 46.64(n)
    38.63(a)
      317943  NM_168065.1  NP_728942.1 


    ENSEMBL Gene Tree for TMPRSS12 (if available)
    TreeFam Gene Tree for TMPRSS12 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TMPRSS12 gene
    CFI2  PRSS562  ACR2  CORIN2  
    18/70 SIMAP similar genes for TMPRSS12 using alignment to 2 protein entries:     TMPSC_HUMAN (see all proteins) (see all similar genes):
    DKFZp779M0222    KLK3    PRSS46    TMPRSS2    TMPRSS11D    PRSS22
    PRSS45    PRSS48    TMPRSS13    TMPRSS15    CELA2B    PRSS42
    TMPRSS3    F12    PRSS38    PRSS56    ST14    TMPRSS6

    TMPRSS12 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/859 SNPs in TMPRSS12 are shown (see all 859)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0518494
    ----see VAR_0518492 E K mis40--------
    rs1462327521,2
    --51068348(+) TAGGGG/TGTCAG 1 -- us2k10--------
    rs1823141271,2
    --51068385(+) GTGATC/TGGGGA 1 -- us2k10--------
    rs1484509771,2
    --51068415(+) TCATGC/TGGTGT 1 -- us2k10--------
    rs747898861,2
    C,F--51068651(+) AGTCAC/TGAAAT 1 -- us2k11Minor allele frequency- T:0.04WA 118
    rs1878534311,2
    --51068675(+) AAGGAA/GAGGGA 1 -- us2k10--------
    rs1149393931,2
    C,F--51068718(+) GTTCAT/CTGGCG 1 -- us2k11Minor allele frequency- C:0.01WA 118
    rs777615041,2
    F--51068722(+) ATTGGC/TGGGCA 1 -- us2k11Minor allele frequency- T:0.04WA 118
    rs124262231,2
    C,F,H--51068868(+) CCACTG/CCCttt 1 -- us2k1 tfbs35Minor allele frequency- C:0.00NS EA NA 422
    rs8291181,2
    C,H--51068924(+) ggagtG/Actgtg 1 -- us2k113Minor allele frequency- A:0.04NA WA CSA EA 376

    HapMap Linkage Disequilibrium report for TMPRSS12 (51236701 - 51281667 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for TMPRSS12:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2669568CNV Deletion23128226
    esv1433992CNV Insertion17803354
    nsv899078CNV Loss21882294


    Human Gene Mutation Database (HGMD): TMPRSS12
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TMPRSS12 for disorders           About MalaCards

    TMPRSS12 for disorders           About GeneDecksing

    Genetic Association Database (GAD): TMPRSS12
    Human Genome Epidemiology (HuGE) Navigator: TMPRSS12 (1 document)

    Export disorders for TMPRSS12 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for TMPRSS12 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with TMPRSS12)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    2. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
    3. The finished DNA sequence of human chromosome 12. (PubMed id 16541075)2 Scherer S.E.... Gibbs R.A. (2006)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 283471 HGNC: 28779 AceView: MGC57341 Ensembl:ENSG00000186452 euGenes: HUgn283471
    ECgene: TMPRSS12 H-InvDB: TMPRSS12

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for TMPRSS12 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for TMPRSS12 gene:
    Search GeneIP for patents involving TMPRSS12

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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