Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Alternate splicing of this gene results in... See more...

Aliases for KLK12 Gene

Aliases for KLK12 Gene

  • Kallikrein Related Peptidase 12 2 3 5
  • KLK-L5 2 3 4
  • Kallikrein-Like Protein 5 3 4
  • Kallikrein-12 3 4
  • KLKL5 3 4
  • Kallikrein 12 2
  • EC 3.4.21.- 4
  • EC 3.4.21 50
  • KLK12 5

External Ids for KLK12 Gene

Previous GeneCards Identifiers for KLK12 Gene

  • GC19M052162
  • GC19M051893
  • GC19M056202
  • GC19M056224
  • GC19M051532
  • GC19M047864

Summaries for KLK12 Gene

Entrez Gene Summary for KLK12 Gene

  • Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Alternate splicing of this gene results in three transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

GeneCards Summary for KLK12 Gene

KLK12 (Kallikrein Related Peptidase 12) is a Protein Coding gene. Among its related pathways are Collagen chain trimerization and Keratinization. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase activity and serine-type peptidase activity. An important paralog of this gene is KLK8.

Gene Wiki entry for KLK12 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KLK12 Gene

Genomics for KLK12 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KLK12 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J051035 Promoter/Enhancer 0.8 EPDnew Ensembl 301.8 +0.6 648 0.8 PKNOX1 ZNF687 CREB1 ZNF592 KLK12 ENSG00000268906 KLK11
GH19J051036 Enhancer 0.6 Ensembl 250.7 -1.1 -1053 0.2 NFE2 HDAC2 MAFG HDAC1 CREM ATF1 KDM1A CTCF CTBP1 PKNOX1 KLK12 ENSG00000268390 KLK13
GH19J050375 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 7.2 +658.8 658846 2.1 BCLAF1 SP1 ZNF207 MYC NCOR1 IKZF1 SIX5 ZNF580 ZNF592 KLF9 HSALNG0127093 NR1H2 NAPSB PRR12 PTOV1-AS2 NUP62 CTU1 PIH1D1 POLD1 ENSG00000268047
GH19J051025 Promoter/Enhancer 1.1 EPDnew Ensembl ENCODE 6.1 +8.9 8949 2.5 ZNF223 MCM3 PKNOX1 MTA3 ZBTB33 KLK11 lnc-KLK12-1 POLD1 ENSG00000268316 SIGLEC17P ZNF577 ZNF350 ZNF613 KLK12 KLK10
GH19J050264 Enhancer 0.8 FANTOM5 5.2 +771.1 771055 0.1 IKZF1 NFIC REST RAD51 CTCF TAL1 ATF1 RAD21 TCF12 NFYC HSALNG0127081 KLK12 IZUMO2 HSALNG0127082 NR1H2 MYH14
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KLK12 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KLK12

Top Transcription factor binding sites by QIAGEN in the KLK12 gene promoter:
  • ER-alpha
  • GATA-1
  • GR
  • GR-alpha
  • LCR-F1
  • PPAR-gamma1
  • PPAR-gamma2
  • ZID

Genomic Locations for KLK12 Gene

Latest Assembly
chr19:51,028,954-51,035,648
(GRCh38/hg38)
Size:
6,695 bases
Orientation:
Minus strand

Previous Assembly
chr19:51,532,350-51,538,258
(GRCh37/hg19 by Entrez Gene)
Size:
5,909 bases
Orientation:
Minus strand

chr19:51,532,348-51,538,486
(GRCh37/hg19 by Ensembl)
Size:
6,139 bases
Orientation:
Minus strand

Genomic View for KLK12 Gene

Genes around KLK12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KLK12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KLK12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KLK12 Gene

Proteins for KLK12 Gene

  • Protein details for KLK12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UKR0-KLK12_HUMAN
    Recommended name:
    Kallikrein-12
    Protein Accession:
    Q9UKR0
    Secondary Accessions:
    • Q9UKR1
    • Q9UKR2

    Protein attributes for KLK12 Gene

    Size:
    248 amino acids
    Molecular mass:
    26734 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for KLK12 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KLK12 Gene

Selected DME Specific Peptides for KLK12 Gene

Q9UKR0:
  • DACQGDSGG
  • VLTAAHC
  • GDSGGPL
  • SGGPLVC
  • CQGDSGGP
  • WVLTAAH

Post-translational modifications for KLK12 Gene

  • Glycosylation at Asn24 and Asn163
  • Modification sites at PhosphoSitePlus

Domains & Families for KLK12 Gene

Gene Families for KLK12 Gene

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

Protein Domains for KLK12 Gene

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

Suggested Antigen Peptide Sequences for KLK12 Gene

GenScript: Design optimal peptide antigens:
  • KLK12 protein (B9EGA9_HUMAN)
  • Kallikrein-like protein 5 (KLK12_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UKR0

UniProtKB/Swiss-Prot:

KLK12_HUMAN :
  • Belongs to the peptidase S1 family. Kallikrein subfamily.
Family:
  • Belongs to the peptidase S1 family. Kallikrein subfamily.
genes like me logo Genes that share domains with KLK12: view

Function for KLK12 Gene

Enzyme Numbers (IUBMB) for KLK12 Gene

Phenotypes From GWAS Catalog for KLK12 Gene

Gene Ontology (GO) - Molecular Function for KLK12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004252 serine-type endopeptidase activity NAS 11054574
GO:0008233 peptidase activity IEA,IDA 21628462
GO:0008236 serine-type peptidase activity IEA,IDA 15300858
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with KLK12: view
genes like me logo Genes that share phenotypes with KLK12: view

Animal Models for research

  • Taconic Biosciences Mouse Models for KLK12

miRNA for KLK12 Gene

miRTarBase miRNAs that target KLK12

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KLK12

Clone products for research

No data available for Molecular function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KLK12 Gene

Localization for KLK12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KLK12 Gene

Secreted.

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 KLK12 gene
Compartment Confidence
extracellular 5
plasma membrane 2
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for KLK12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space NAS 21628462
GO:0030141 secretory granule IBA 21873635
genes like me logo Genes that share ontologies with KLK12: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for KLK12 Gene

Pathways & Interactions for KLK12 Gene

PathCards logo

SuperPathways for KLK12 Gene

SuperPathway Contained pathways
1 Collagen chain trimerization
.48
.46
2 Keratinization
3 MSP-RON Signaling
-
4 Developmental Biology
genes like me logo Genes that share pathways with KLK12: view

Pathways by source for KLK12 Gene

3 Qiagen pathways for KLK12 Gene
  • Blood Coagulation Cascade
  • Intrinsic Prothrombin Activation Pathway
  • MSP-RON Signaling

Gene Ontology (GO) - Biological Process for KLK12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IDA 21628462
GO:0070268 cornification TAS --
genes like me logo Genes that share ontologies with KLK12: view

No data available for SIGNOR curated interactions for KLK12 Gene

Drugs & Compounds for KLK12 Gene

No Compound Related Data Available

Transcripts for KLK12 Gene

mRNA/cDNA for KLK12 Gene

7 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
7 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 KLK12

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for KLK12 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7
SP1: - - - -
SP2: -
SP3: - -
SP4: - -

Relevant External Links for KLK12 Gene

GeneLoc Exon Structure for
KLK12

Expression for KLK12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KLK12 Gene

mRNA differential expression in normal tissues according to GTEx for KLK12 Gene

This gene is overexpressed in Esophagus - Mucosa (x26.8), Cervix - Ectocervix (x12.8), Vagina (x6.8), and Minor Salivary Gland (x4.3).

Protein differential expression in normal tissues from HIPED for KLK12 Gene

This gene is overexpressed in Saliva (52.9) and Salivary gland (8.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for KLK12 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KLK12

SOURCE GeneReport for Unigene cluster for KLK12 Gene:

Hs.411572
genes like me logo Genes that share expression patterns with KLK12: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for KLK12 Gene

Orthologs for KLK12 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KLK12 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia KLK12 29 30
  • 98.45 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia KLK12 29 30
  • 82.39 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia KLK12 29
  • 81.72 (n)
-- 30
  • 25 (a)
ManyToMany
Mouse
(Mus musculus)
Mammalia Klk12 29 16 30
  • 75.3 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Klk12 29
  • 73.37 (n)
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 45 (a)
OneToMany
Species where no ortholog for KLK12 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)
  • Chicken (Gallus gallus)
  • 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)
  • Fruit Fly (Drosophila melanogaster)
  • 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)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • 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 Squirt (Ciona savignyi)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for KLK12 Gene

ENSEMBL:
Gene Tree for KLK12 (if available)
TreeFam:
Gene Tree for KLK12 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KLK12: view image
Alliance of Genome Resources:
Additional Orthologs for KLK12

Paralogs for KLK12 Gene

Variants for KLK12 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KLK12 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
rs16988834 Benign: not provided 51,032,027(-) C/T
NM_145894.2(KLK12):c.306G>A (p.Ser102=)
SYNONYMOUS_VARIANT,INTRON
rs61742854 Benign: not provided 51,034,102(-) G/A
NM_145894.2(KLK12):c.75C>T (p.Gly25=)
MISSENSE_VARIANT,SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for KLK12 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 KLK12 Gene

Variant ID Type Subtype PubMed ID
nsv1140251 OTHER inversion 24896259

Variation tolerance for KLK12 Gene

Residual Variation Intolerance Score: 70.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.65; 56.84% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KLK12 Gene

Human Gene Mutation Database (HGMD)
KLK12
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KLK12
Leiden Open Variation Database (LOVD)
KLK12

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KLK12 Gene

Disorders for KLK12 Gene

Additional Disease Information for KLK12

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform

No disorders were found for KLK12 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KLK12 Gene

Publications for KLK12 Gene

  1. Splice-site genetic polymorphism of the human kallikrein 12 (KLK12) gene correlates with no substantial expression of KLK12 protein having serine protease activity. (PMID: 15300858) Shinmura K … Sugimura H (Human mutation 2004) 3 22 40
  2. Blood biomarker levels to aid discovery of cancer-related single-nucleotide polymorphisms: kallikreins and prostate cancer. (PMID: 20424135) Klein RJ … Lilja H (Cancer prevention research (Philadelphia, Pa.) 2010) 3 40
  3. Proceedings of the 1st International Symposium on Kallikreins, Lausanne, Switzerland, September 1-3 , 2005. (PMID: 16800723) (Biological chemistry 2006) 2 3
  4. A comprehensive nomenclature for serine proteases with homology to tissue kallikreins. (PMID: 16800724) Lundwall A … Yousef GM (Biological chemistry 2006) 2 3
  5. The DNA sequence and biology of human chromosome 19. (PMID: 15057824) Grimwood J … Lucas SM (Nature 2004) 3 4

Products for KLK12 Gene

  • Boster Bio Antibodies for KLK12
  • Boster Bio ELISA Kits for KLK12

Sources for KLK12 Gene