Aliases for TMPRSS12 Gene

Aliases for TMPRSS12 Gene

  • Transmembrane Serine Protease 12 2 3 5
  • Transmembrane Protease, Serine 12 2 3
  • Transmembrane Protease Serine 12 3 4
  • CT151 2 3
  • Transmembrane (C-Terminal) Protease, Serine 12 3
  • Testicular Tissue Protein Li 208 3
  • EC 3.4.21.4 50
  • EC 3.4.21.- 4
  • EC 3.4.21 50
  • TMPRSS12 5
  • MGC57341 2

External Ids for TMPRSS12 Gene

Previous GeneCards Identifiers for TMPRSS12 Gene

  • GC12P049523
  • GC12P051236
  • GC12P048269

Summaries for TMPRSS12 Gene

GeneCards Summary for TMPRSS12 Gene

TMPRSS12 (Transmembrane Serine Protease 12) is a Protein Coding gene. Diseases associated with TMPRSS12 include Mixed Germ Cell-Sex Cord Neoplasm. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase activity. An important paralog of this gene is PRSS48.

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TMPRSS12 Gene

Genomics for TMPRSS12 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TMPRSS12 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TMPRSS12 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TMPRSS12

Top Transcription factor binding sites by QIAGEN in the TMPRSS12 gene promoter:
  • Brachyury
  • FOXI1
  • HFH-3
  • HNF-3beta
  • Pax-3
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for TMPRSS12 Gene

Latest Assembly
chr12:50,842,920-50,887,884
(GRCh38/hg38)
Size:
44,965 bases
Orientation:
Plus strand

Previous Assembly
chr12:51,236,709-51,281,667
(GRCh37/hg19 by Entrez Gene)
Size:
44,959 bases
Orientation:
Plus strand

chr12:51,236,703-51,281,667
(GRCh37/hg19 by Ensembl)
Size:
44,965 bases
Orientation:
Plus strand

Genomic View for TMPRSS12 Gene

Genes around TMPRSS12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMPRSS12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMPRSS12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMPRSS12 Gene

Proteins for TMPRSS12 Gene

  • Protein details for TMPRSS12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86WS5-TMPSC_HUMAN
    Recommended name:
    Transmembrane protease serine 12
    Protein Accession:
    Q86WS5
    Secondary Accessions:
    • B9ZVX2

    Protein attributes for TMPRSS12 Gene

    Size:
    348 amino acids
    Molecular mass:
    38605 Da
    Quaternary structure:
    No Data Available

neXtProt entry for TMPRSS12 Gene

Selected DME Specific Peptides for TMPRSS12 Gene

Q86WS5:
  • VLTAAHC
  • GDSGGPL
  • WVLTAAHCT
  • WVLTAAH

Post-translational modifications for TMPRSS12 Gene

  • Glycosylation at Asn219 and Asn249
  • Modification sites at PhosphoSitePlus

Other Protein References for TMPRSS12 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for TMPRSS12 Gene

Gene Families for TMPRSS12 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for TMPRSS12 Gene

InterPro:
Blocks:
  • Serine protease, trypsin family
  • Chymotrypsin serine protease family (S1) signature

Suggested Antigen Peptide Sequences for TMPRSS12 Gene

GenScript: Design optimal peptide antigens:
  • Transmembrane protease serine 12 (TMPSC_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q86WS5

UniProtKB/Swiss-Prot:

TMPSC_HUMAN :
  • Belongs to the peptidase S1 family.
Family:
  • Belongs to the peptidase S1 family.
genes like me logo Genes that share domains with TMPRSS12: view

Function for TMPRSS12 Gene

Enzyme Numbers (IUBMB) for TMPRSS12 Gene

Phenotypes From GWAS Catalog for TMPRSS12 Gene

Gene Ontology (GO) - Molecular Function for TMPRSS12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004252 serine-type endopeptidase activity IEA --
GO:0008233 peptidase activity IEA --
GO:0008236 serine-type peptidase activity IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with TMPRSS12: view
genes like me logo Genes that share phenotypes with TMPRSS12: view

Animal Models for research

  • Taconic Biosciences Mouse Models for TMPRSS12

miRNA for TMPRSS12 Gene

miRTarBase miRNAs that target TMPRSS12

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMPRSS12

No data available for Molecular function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TMPRSS12 Gene

Localization for TMPRSS12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMPRSS12 Gene

Membrane. Single-pass membrane protein.

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 TMPRSS12 gene
Compartment Confidence
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for TMPRSS12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001669 acrosomal vesicle IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TMPRSS12: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TMPRSS12 Gene

Pathways & Interactions for TMPRSS12 Gene

PathCards logo

SuperPathways for TMPRSS12 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TMPRSS12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0007339 binding of sperm to zona pellucida IEA --
GO:0016485 protein processing IEA --
genes like me logo Genes that share ontologies with TMPRSS12: view

No data available for Pathways by source and SIGNOR curated interactions for TMPRSS12 Gene

Drugs & Compounds for TMPRSS12 Gene

No Compound Related Data Available

Transcripts for TMPRSS12 Gene

mRNA/cDNA for TMPRSS12 Gene

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMPRSS12

Alternative Splicing Database (ASD) splice patterns (SP) for TMPRSS12 Gene

No ASD Table

Relevant External Links for TMPRSS12 Gene

GeneLoc Exon Structure for
TMPRSS12

Expression for TMPRSS12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TMPRSS12 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

mRNA differential expression in normal tissues according to GTEx for TMPRSS12 Gene

This gene is overexpressed in Testis (x48.4).

Protein differential expression in normal tissues from HIPED for TMPRSS12 Gene

This gene is overexpressed in Heart (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TMPRSS12 Gene



Protein tissue co-expression partners for TMPRSS12 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TMPRSS12

SOURCE GeneReport for Unigene cluster for TMPRSS12 Gene:

Hs.125571

mRNA Expression by UniProt/SwissProt for TMPRSS12 Gene:

Q86WS5-TMPSC_HUMAN
Tissue specificity: In testis, expressed in spermatocytes and spermatids. Expressed in colorectal cancer (at protein level).
genes like me logo Genes that share expression patterns with TMPRSS12: view

Primer products for research

No data available for Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for TMPRSS12 Gene

Orthologs for TMPRSS12 Gene

This gene was present in the common ancestor of animals.

Orthologs for TMPRSS12 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TMPRSS12 29 30
  • 99.04 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TMPRSS12 29
  • 81.65 (n)
Dog
(Canis familiaris)
Mammalia TMPRSS12 29 30
  • 79.77 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Tmprss12 29 16 30
  • 72.44 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Tmprss12 29
  • 71.15 (n)
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 52 (a)
OneToMany
-- 30
  • 48 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia TMPRSS12 30
  • 48 (a)
OneToOne
Chicken
(Gallus gallus)
Aves TMPRSS12 29 30
  • 53.78 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 41 (a)
OneToMany
-- 30
  • 38 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia tmprss12 29
  • 55.38 (n)
Zebrafish
(Danio rerio)
Actinopterygii TMPRSS12 30
  • 25 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG11836 30
  • 30 (a)
ManyToMany
CG6865 30
  • 29 (a)
ManyToMany
CG3355 30
  • 25 (a)
ManyToMany
CG11841 30
  • 24 (a)
ManyToMany
CG4914 30
  • 23 (a)
ManyToMany
CG11843 30
  • 23 (a)
ManyToMany
CG11842 30
  • 23 (a)
ManyToMany
CG14642 30
  • 21 (a)
ManyToMany
CG9372 30
  • 21 (a)
ManyToMany
CG18735 30
  • 21 (a)
ManyToMany
CG3700 30
  • 21 (a)
ManyToMany
CG4613 30
  • 21 (a)
ManyToMany
CG4927 30
  • 21 (a)
ManyToMany
CG4386 30
  • 20 (a)
ManyToMany
snk 30
  • 20 (a)
ManyToMany
CG9294 30
  • 20 (a)
ManyToMany
psh 30
  • 20 (a)
ManyToMany
CG14892 30
  • 19 (a)
ManyToMany
spirit 30
  • 19 (a)
ManyToMany
CG11668 30
  • 19 (a)
ManyToMany
CG11670 30
  • 17 (a)
ManyToMany
CG1299 30
  • 16 (a)
ManyToMany
CG32260 30
  • 16 (a)
ManyToMany
CG8172 30
  • 15 (a)
ManyToMany
CG31728 30
  • 13 (a)
ManyToMany
CG7432 30
  • 12 (a)
ManyToMany
CG6361 30
  • 12 (a)
ManyToMany
Sb 30
  • 11 (a)
ManyToMany
CG34350 30
  • 9 (a)
ManyToMany
CG8213 30
  • 6 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.10974 30
  • 17 (a)
ManyToMany
Species where no ortholog for TMPRSS12 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • 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 Vase (Ciona intestinalis)
  • 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 TMPRSS12 Gene

ENSEMBL:
Gene Tree for TMPRSS12 (if available)
TreeFam:
Gene Tree for TMPRSS12 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TMPRSS12: view image
Alliance of Genome Resources:
Additional Orthologs for TMPRSS12

Paralogs for TMPRSS12 Gene

Variants for TMPRSS12 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TMPRSS12 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs10876100 -- p.Tyr19His
rs829121 -- p.Glu62Lys
rs861204 -- p.Ala127Thr

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TMPRSS12 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for TMPRSS12 Gene

Variant ID Type Subtype PubMed ID
esv1433992 CNV insertion 17803354
esv2669568 CNV deletion 23128226
esv3629492 CNV loss 21293372
esv3629493 CNV loss 21293372
nsv1076782 CNV insertion 25765185
nsv1116698 CNV tandem duplication 24896259
nsv1120260 CNV tandem duplication 24896259
nsv1125183 CNV insertion 24896259
nsv1125548 CNV tandem duplication 24896259
nsv1142808 CNV tandem duplication 24896259

Variation tolerance for TMPRSS12 Gene

Residual Variation Intolerance Score: 92.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.53; 72.04% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TMPRSS12 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMPRSS12
Leiden Open Variation Database (LOVD)
TMPRSS12

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMPRSS12 Gene

Disorders for TMPRSS12 Gene

MalaCards: The human disease database

(1) MalaCards diseases for TMPRSS12 Gene - From: COP

Disorder Aliases PubMed IDs
mixed germ cell-sex cord neoplasm
  • mixed germ cell-sex cord tumor
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for TMPRSS12

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with TMPRSS12: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TMPRSS12 Gene

Publications for TMPRSS12 Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 40
  2. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3
  3. Systematic screening reveals a role for BRCA1 in the response to transcription-associated DNA damage. (PMID: 25184681) Hill SJ … Livingston DM (Genes & development 2014) 3
  4. Scanning of novel cancer/testis proteins by human testis proteomic analysis. (PMID: 23436708) Liu M … Sha J (Proteomics 2013) 4
  5. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PMID: 17207965) Lamesch P … Vidal M (Genomics 2007) 3

Products for TMPRSS12 Gene

Sources for TMPRSS12 Gene