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Aliases for KLK4 Gene

Aliases for KLK4 Gene

  • Kallikrein Related Peptidase 4 2 3 5
  • Enamel Matrix Serine Proteinase 1 2 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
  • Kallikrein-4 3
  • EC 3.4.21.- 4
  • Kallikrein 3
  • 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, Hypomaturation Type, Iia1 and Amelogenesis Imperfecta Hypomaturation Type. Among its related pathways are MSP-RON Signaling and Collagen chain trimerization. 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 KLK5.

UniProtKB/Swiss-Prot for KLK4 Gene

  • Has a major role in enamel formation (PubMed:15235027). Required during the maturation stage of tooth development for clearance of enamel proteins and normal structural patterning of the crystalline matrix (By similarity).

Gene Wiki entry for KLK4 Gene

Additional gene information for KLK4 Gene

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

Genomics for KLK4 Gene

GeneHancer (GH) Regulatory Elements for KLK4 Gene

Promoters and enhancers for KLK4 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J050909 Promoter/Enhancer 1.1 EPDnew ENCODE 655.5 +1.2 1237 0.3 HDGF SP3 NRF1 SP2 SP1 POLR2A ZBTB48 KLF9 ZBTB17 KLK4 GC19M050909
GH19J050910 Enhancer 0.4 ENCODE 650.7 +0.8 849 0.1 POLR2A ZBTB48 GC19M050909 KLK4
GH19J050890 Enhancer 0.9 ENCODE dbSUPER 13.5 +19.6 19596 1 HDGF EBF1 RELA FOSL1 ZNF157 NFATC1 ATF7 FOSL2 FOS IKZF2 KLK4 LINC01869 SNORD88C C19orf48 KLK15 KLK1 KLKP1 KLK2
GH19J050874 Enhancer 0.9 dbSUPER 12.6 +33.8 33807 4.7 HDGF HDAC1 PKNOX1 ATF1 SMAD1 YBX1 TCF12 GATA2 EGR1 ZNF366 C19orf48 KLK4 POLD1 SNORD88C LINC01869 NUP62 KLKP1 KLK2 KLK3
GH19J050537 Enhancer 1.1 ENCODE dbSUPER 10.2 +372.9 372870 0.1 SIN3A ZNF2 IRF4 ZNF48 ARID2 ZNF143 ATF7 REST ZNF592 MEF2D ASPDH JOSD2 LRRC4B GPR32 SNORD88A SNORD88B SNORD88C NAPSA NR1H2 C19orf48
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KLK4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KLK4 gene promoter:
  • NF-1
  • ZIC2
  • GATA-1
  • Arnt
  • AhR
  • SRF (504 AA)
  • SRF
  • XBP-1
  • GR
  • GR-alpha

Genomic Locations for KLK4 Gene

Genomic Locations for KLK4 Gene
4,398 bases
Minus strand
4,387 bases
Minus strand

Genomic View for KLK4 Gene

Genes around KLK4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KLK4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for KLK4 Gene

  • N-glycosylated. The N-glycan structures are of complex diantennary or triantennary type, which may be further modified with up to 2 sialic acid residues.
  • Glycosylation at Asn169
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for KLK4 (Kallikrein 4/Prostase/EMSP1)
  • Boster Bio Antibodies for KLK4
  • Santa Cruz Biotechnology (SCBT) Antibodies for KLK4

No data available for DME Specific Peptides for KLK4 Gene

Domains & Families for KLK4 Gene

Gene Families for KLK4 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted secreted proteins

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the peptidase S1 family. Kallikrein subfamily.
  • 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:
Has a major role in enamel formation (PubMed:15235027). Required during the maturation stage of tooth development for clearance of enamel proteins and normal structural patterning of the crystalline matrix (By similarity).

Enzyme Numbers (IUBMB) for KLK4 Gene

Phenotypes From GWAS Catalog 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:0008233 peptidase activity IEA --
GO:0008236 serine-type peptidase activity NAS,TAS 10438493
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with KLK4: view
genes like me logo Genes that share phenotypes with KLK4: view

Human Phenotype Ontology for KLK4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KLK4 Gene

MGI Knock Outs for KLK4:
  • Klk4 Klk4<tm1.1Jpsi>

Animal Model Products

  • Taconic Biosciences Mouse Models for KLK4

Clone Products

No data available for 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

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 KLK4 gene
Compartment Confidence
extracellular 5
plasma membrane 2
nucleus 2
cytosol 2
lysosome 2
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for KLK4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS,IEA --
GO:0030141 secretory granule IBA --
genes like me logo Genes that share ontologies with KLK4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for KLK4 Gene

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 IBA,IEA --
GO:0030163 protein catabolic process IEA --
GO:0031214 biomineral tissue development IEA --
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

(5) Drugs for KLK4 Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dihydrogenphosphate Ion Experimental Pharma Target 0
N-[2-(1-Maleimidyl)Ethyl]-7-Diethylaminocoumarin-3-Carboxamide Experimental Pharma Target 0
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:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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).

NURSA nuclear receptor signaling pathways regulating expression of KLK4 Gene:


SOURCE GeneReport for Unigene cluster for KLK4 Gene:


mRNA Expression by UniProt/SwissProt for KLK4 Gene:

Tissue specificity: Expressed in prostate.

Evidence on tissue expression from TISSUES for KLK4 Gene

  • Blood(3.2)
  • Urine(2.9)
  • Kidney(2.8)
  • Saliva(2.4)
  • Heart(2.3)
  • Nervous system(2.1)
  • Pancreas(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for KLK4 Gene

Germ Layers:
  • ectoderm
  • mesoderm
  • skeleton
Head and neck:
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • skull
  • tooth
genes like me logo Genes that share expression patterns with KLK4: view

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
(Pan troglodytes)
Mammalia KLK4 34 33
  • 99.61 (n)
(Canis familiaris)
Mammalia KLK4 34 33
  • 85.3 (n)
(Bos Taurus)
Mammalia KLK4 34 33
  • 83.86 (n)
(Rattus norvegicus)
Mammalia Klk4 33
  • 75.76 (n)
(Mus musculus)
Mammalia Klk4 16 34 33
  • 74.67 (n)
Species where no ortholog for KLK4 was found in the sources mined by GeneCards:
  • 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)
Evolutionary constrained regions (ECRs) for KLK4: view image

Paralogs for KLK4 Gene

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 Variation AA Info Type
rs104894704 pathogenic, Amelogenesis imperfecta, hypomaturation type, IIA1 50,908,596(-) C/T coding_sequence_variant, non_coding_transcript_variant, stop_gained
rs556734208 pathogenic, Amelogenesis imperfecta, hypomaturation type, IIA1 50,907,067(-) A/ 3_prime_UTR_variant, coding_sequence_variant, frameshift, genic_downstream_transcript_variant, non_coding_transcript_variant
rs786204825 pathogenic, Amelogenesis imperfecta, hypomaturation type, IIA1 50,908,809(-) CCC/CC 5_prime_UTR_variant, coding_sequence_variant, frameshift, non_coding_transcript_variant
rs1654552 benign, not specified 50,909,410(-) C/A 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, intron_variant, synonymous_variant, upstream_transcript_variant
rs2569527 benign, not specified 50,908,380(-) T/G 3_prime_UTR_variant, coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant

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

Variant ID Type Subtype PubMed ID
esv1633192 CNV deletion 17803354
esv3583473 CNV loss 25503493
nsv1140251 OTHER inversion 24896259

Variation tolerance for KLK4 Gene

Residual Variation Intolerance Score: 58% 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)

Additional Variant Information for KLK4 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

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

Disorders for KLK4 Gene

MalaCards: The human disease database

(14) MalaCards diseases for KLK4 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
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.

Additional Disease Information for KLK4

Genetic Association Database
Human Genome Epidemiology 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 JC … Simmer JP (Gene 2000) 2 3 4 22 58
  2. Molecular cloning and characterization of prostase, an androgen-regulated serine protease with prostate-restricted expression. (PMID: 10077646) Nelson PS … Wang K (Proceedings of the National Academy of Sciences of the United States of America 1999) 2 3 4 22 58
  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 SA … Clements JA (The Journal of biological chemistry 1999) 2 3 4 22 58
  4. Candidate gene approach evaluates association between innate immunity genes and breast cancer risk in Korean women. (PMID: 19372141) Lee JY … Kang D (Carcinogenesis 2009) 3 22 44 58
  5. Distinctly different gene structure of KLK4/KLK-L1/prostase/ARM1 compared with other members of the kallikrein family: intracellular localization, alternative cDNA forms, and Regulation by multiple hormones. (PMID: 11506707) Korkmaz KS … Saatcioglu F (DNA and cell biology 2001) 3 4 22 58

Products for KLK4 Gene

Sources for KLK4 Gene

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