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Aliases for KLK4 Gene

Aliases for KLK4 Gene

  • Kallikrein-Related Peptidase 4 2 3
  • Enamel Matrix Serine Proteinase 1 3 4
  • Kallikrein-Like Protein 1 3 4
  • Serine Protease 17 3 4
  • Prostase 3 4
  • PRSS17 3 4
  • KLK-L1 3 4
  • EMSP1 3 4
  • PSTS 3 4
  • Kallikrein 4 (Prostase, Enamel Matrix, Prostate) 2
  • Enamel Matrix Serine Protease 1 3
  • Androgen-Regulated Message 1 3
  • EC 3.4.21.- 4
  • Kallikrein 3
  • EC 3.4.21 63
  • AI2A1 3
  • ARM1 3
  • EMSP 3

External Ids for KLK4 Gene

Previous HGNC Symbols for KLK4 Gene

  • PRSS17

Previous GeneCards Identifiers for KLK4 Gene

  • GC19M052036
  • GC19M051770
  • GC19M056085
  • GC19M056101
  • GC19M051409
  • GC19M047742

Summaries for KLK4 Gene

Entrez Gene Summary for KLK4 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. In some tissues its expression is hormonally regulated. The expression pattern of a similar mouse protein in murine developing teeth supports a role for the protein in the degradation of enamel proteins. Several transcript variants encoding different proteins have been found for this gene. [provided by RefSeq, Dec 2014]

GeneCards Summary for KLK4 Gene

KLK4 (Kallikrein-Related Peptidase 4) is a Protein Coding gene. Diseases associated with KLK4 include amelogenesis imperfecta, type iia1 and amelogenesis imperfecta hypomaturation type. Among its related pathways are Collagen biosynthesis and modifying enzymes and MSP-RON Signaling. GO annotations related to this gene include serine-type endopeptidase activity and serine-type peptidase activity. An important paralog of this gene is KLK12.

UniProtKB/Swiss-Prot for KLK4 Gene

  • Involved in enamel formation.

Gene Wiki entry for KLK4 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KLK4 Gene

Genomics for KLK4 Gene

Regulatory Elements for KLK4 Gene

Genomic Location for KLK4 Gene

50,906,352 bp from pter
50,910,749 bp from pter
4,398 bases
Minus strand

Genomic View for KLK4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KLK4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KLK4 Gene

Proteins for KLK4 Gene

  • Protein details for KLK4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • Q4VB16
    • Q96RU5
    • Q9GZL6
    • Q9UBJ6

    Protein attributes for KLK4 Gene

    254 amino acids
    Molecular mass:
    27032 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for KLK4 Gene

    Alternative splice isoforms for KLK4 Gene


neXtProt entry for KLK4 Gene

Proteomics data for KLK4 Gene at MOPED

Selected DME Specific Peptides for KLK4 Gene

Post-translational modifications for KLK4 Gene

  • Glycosylation at Asn 169
  • Modification sites at PhosphoSitePlus

Other Protein References for KLK4 Gene

Antibody Products

  • R&D Systems Antibodies for KLK4 (Kallikrein 4/Prostase/EMSP1)

Domains & Families for KLK4 Gene

Gene Families for KLK4 Gene

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 peptidase S1 domain.
  • Belongs to the peptidase S1 family. Kallikrein subfamily.
  • Contains 1 peptidase S1 domain.
  • Belongs to the peptidase S1 family. Kallikrein subfamily.
genes like me logo Genes that share domains with KLK4: view

Function for KLK4 Gene

Molecular function for KLK4 Gene

UniProtKB/Swiss-Prot Function:
Involved in enamel formation.

Enzyme Numbers (IUBMB) for KLK4 Gene

Gene Ontology (GO) - Molecular Function for KLK4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004252 serine-type endopeptidase activity IEA --
GO:0005515 protein binding IPI 25416956
GO:0008236 serine-type peptidase activity NAS 10438493
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with KLK4: view
genes like me logo Genes that share phenotypes with KLK4: view

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for KLK4

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for KLK4 Gene

Localization for KLK4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KLK4 Gene


Subcellular locations from

Jensen Localization Image for KLK4 Gene COMPARTMENTS Subcellular localization image for KLK4 gene
Compartment Confidence
extracellular 5
cytosol 2
lysosome 2
plasma membrane 2
vacuole 2
endoplasmic reticulum 1
golgi apparatus 1
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for KLK4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with KLK4: view

Pathways & Interactions for KLK4 Gene

genes like me logo Genes that share pathways with KLK4: view

Pathways by source for KLK4 Gene

Gene Ontology (GO) - Biological Process for KLK4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis NAS 10438493
GO:0022617 extracellular matrix disassembly --
GO:0030163 protein catabolic process --
GO:0097186 amelogenesis IMP 15235027
genes like me logo Genes that share ontologies with KLK4: view

No data available for SIGNOR curated interactions for KLK4 Gene

Drugs & Compounds for KLK4 Gene

(3) Drugs for KLK4 Gene - From: NovoSeek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Progesterone Approved Pharma Inhibition, Pore Blocker Endogenous progesterone receptor agonist 473
estrogen Pharma 0
serine Nutra 420
genes like me logo Genes that share compounds with KLK4: view

Transcripts for KLK4 Gene

Unigene Clusters for KLK4 Gene

Kallikrein-related peptidase 4:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for KLK4

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for KLK4 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b · 6c
SP1: - -
SP2: -
SP3: - -
SP5: - - - - -
SP6: - -
SP8: -

Relevant External Links for KLK4 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for KLK4 Gene

mRNA expression in normal human tissues for KLK4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KLK4 Gene

This gene is overexpressed in Prostate (x48.1).

SOURCE GeneReport for Unigene cluster for KLK4 Gene Hs.218366

mRNA Expression by UniProt/SwissProt for KLK4 Gene

Tissue specificity: Expressed in prostate
genes like me logo Genes that share expression patterns with KLK4: view

Primer Products

In Situ Assay Products

No data available for Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for KLK4 Gene

Orthologs for KLK4 Gene

This gene was present in the common ancestor of mammals.

Orthologs for KLK4 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia KLK4 35
  • 83.86 (n)
  • 78.74 (a)
KLK4 36
  • 78 (a)
(Canis familiaris)
Mammalia KLK4 35
  • 85.3 (n)
  • 77.95 (a)
KLK4 36
  • 78 (a)
(Mus musculus)
Mammalia Klk4 35
  • 74.67 (n)
  • 68.9 (a)
Klk4 16
Klk4 36
  • 69 (a)
(Pan troglodytes)
Mammalia KLK4 35
  • 99.61 (n)
  • 99.21 (a)
KLK4 36
  • 99 (a)
(Rattus norvegicus)
Mammalia Klk4 35
  • 75.76 (n)
  • 70.75 (a)
Species with no ortholog for KLK4:
  • A. gosspyii yeast (Ashbya 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)
  • lizard (Anolis carolinensis)
  • 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 squirt (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 KLK4 Gene

Gene Tree for KLK4 (if available)
Gene Tree for KLK4 (if available)

Paralogs for KLK4 Gene

genes like me logo Genes that share paralogs with KLK4: view

Variants for KLK4 Gene

Sequence variations from dbSNP and Humsavar for KLK4 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs189903 -- 50,908,309(+) TCCCC(C/T)TTCTC intron-variant, downstream-variant-500B
rs198965 -- 50,907,142(+) TGGAT(A/G/T)TGGGC intron-variant
rs198966 -- 50,908,754(+) GAGAG(A/G)CTGGC reference, synonymous-codon, nc-transcript-variant
rs198967 -- 50,909,765(+) TCCCA(A/G)GGGCG intron-variant, upstream-variant-2KB
rs198968 -- 50,910,072(+) ATAGC(A/G)GTAGG intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for KLK4 Gene

Variant ID Type Subtype PubMed ID
esv1633192 CNV Deletion 17803354

Variation tolerance for KLK4 Gene

Residual Variation Intolerance Score: 57.95% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.05; 60.67% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KLK4 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KLK4 Gene

Disorders for KLK4 Gene

MalaCards: The human disease database

(19) MalaCards diseases for KLK4 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
amelogenesis imperfecta, type iia1
  • amelogenesis imperfecta, hypomaturation type, iia1
amelogenesis imperfecta hypomaturation type
  • aih
amelogenesis imperfecta
  • aortic valve insufficiency
malignant essential hypertension
  • accelerated essential hypertension
mouth disease
  • mouth disorders
- elite association
Search KLK4 in MalaCards View complete list of genes associated with diseases


  • Amelogenesis imperfecta, hypomaturation type, 2A1 (AI2A1) [MIM:204700]: A defect of enamel formation. The disorder involves both primary and secondary dentitions. The teeth have a shiny agar jelly appearance and the enamel is softer than normal. Brown pigment is present in middle layers of enamel. {ECO:0000269 PubMed:15235027}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for KLK4

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with KLK4: view

No data available for Genatlas for KLK4 Gene

Publications for KLK4 Gene

  1. Characterization of the mouse and human PRSS17 genes, their relationship to other serine proteases, and the expression of PRSS17 in developing mouse incisors. (PMID: 10863090) Hu J.C.-C. … Simmer J.P. (Gene 2000) 2 23 67
  2. Molecular cloning and characterization of prostase, an androgen- regulated serine protease with prostate-restricted expression. (PMID: 10077646) Nelson P.S. … Wang K. (Proc. Natl. Acad. Sci. U.S.A. 1999) 2 23 67
  3. Localization of a new prostate-specific antigen-related serine protease gene, KLK4, is evidence for an expanded human kallikrein gene family cluster on chromosome 19q13.3-13.4. (PMID: 10438493) Stephenson S.A. … Clements J.A. (J. Biol. Chem. 1999) 2 23 67
  4. MMP20 hemopexin domain mutation in amelogenesis imperfecta. (PMID: 19966041) Lee S.K. … Kim J.W. (J. Dent. Res. 2010) 23 67
  5. Kallikrein-related peptidase 4: a new activator of the aberrantly expressed protease-activated receptor 1 in colon cancer cells. (PMID: 20056842) Gratio V. … Darmoul D. (Am. J. Pathol. 2010) 23 67

Products for KLK4 Gene

Sources for KLK4 Gene

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