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

KLK4 Gene

protein-coding   GIFtS: 60
GCID: GC19M051409

Kallikrein-Related Peptidase 4

(Previous names: kallikrein 4 (prostase, enamel matrix, prostate))
(Previous symbol: PRSS17)
  See related diseases
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
Kallikrein-Related Peptidase 41 2     ARM12
PRSS171 2 3 5     EMSP2
EMSP12 3 5     Androgen-Regulated Message 12
Enamel Matrix Serine Proteinase 12 3     Enamel Matrix Serine Protease 12
Kallikrein-Like Protein 12 3     kallikrein2
Serine Protease 172 3     kallikrein-42
KLK-L12 3     prostase2
PSTS2 3     EC 3.4.21.-3
AI2A12 5     Prostase3
Kallikrein 4 (Prostase, Enamel Matrix, Prostate)1     EC 3.4.218

External Ids:    HGNC: 63651   Entrez Gene: 96222   Ensembl: ENSG000001677497   OMIM: 6037675   UniProtKB: Q9Y5K23   

Export aliases for KLK4 gene to outside databases

Previous GC identifers: GC19M052036 GC19M051770 GC19M056085 GC19M056101 GC19M047742


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

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. Alternate splice
variants for this gene have been described, but their biological validity has not been determined. (provided by
RefSeq, Jul 2008)

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 urethral syndrome, and among its related super-pathways are Collagen biosynthesis and modifying enzymes. GO annotations related to this gene include serine-type peptidase activity and serine-type endopeptidase activity. An important paralog of this gene is KLK10.

UniProtKB/Swiss-Prot: KLK4_HUMAN, Q9Y5K2
Function: Involved in enamel formation

Gene Wiki entry for KLK4 Gene


(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_000019.9  NT_011109.16  NC_018930.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KLK4 gene promoter:
         GR   SRF   AhR   NF-1   SRF (504 AA)   XBP-1   Arnt   GATA-1   GR-alpha   ZIC2/Zic2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKLK4 promoter sequence
   Search SABiosciences Chromatin IP Primers for KLK4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KLK4


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

Entrez Gene cytogenetic band: 19q13.41   Ensembl cytogenetic band:  19q13.41   HGNC cytogenetic band: 19q13.3-q13.4

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

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M051409:  view genomic region     (about GC identifiers)

Start:
51,409,608 bp from pter      End:
51,413,994 bp from pter
Size:
4,387 bases      Orientation:
minus 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: KLK4_HUMAN, Q9Y5K2 (See protein sequence)
Recommended Name: Kallikrein-4 precursor  
Size: 254 amino acids; 27032 Da
Subcellular location: Secreted
3 PDB 3D structures from and Proteopedia for KLK4:
2BDG (3D)        2BDH (3D)        2BDI (3D)    
Secondary accessions: Q4VB16 Q9GZL6 Q9UBJ6

Explore the universe of human proteins at neXtProt for KLK4: NX_Q9Y5K2

Explore proteomics data for KLK4 at MOPED 

4 DME Specific Peptides for KLK4 (Q9Y5K2)
 GDSGGPL  SGGPLIC  CNGDSGGP  WVLSAAHC 

KLK4 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

KLK4 Protein Expression
REFSEQ proteins: NP_004908.3  
ENSEMBL proteins: 
 ENSP00000326159   ENSP00000469963   ENSP00000469769   ENSP00000472091   ENSP00000399448  

Human Recombinant Protein Products for KLK4: 
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Novus Biologicals KLK4 Proteins
Sino Biological Recombinant Protein for KLK4
Sino Biological Cell Lysate for KLK4 
ProSpec Recombinant Protein for KLK4
Cloud-Clone Corp. Proteins for KLK4 

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

GO IDQualified GO termEvidencePubMed IDs
GO:0005576extracellular region IEA--

KLK4 for ontologies           About GeneDecksing



KLK4 Antibody Products: 
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LSBio Antibodies in human, mouse, rat for KLK4 

Assay Products for KLK4: 
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Cloud-Clone Corp. ELISAs for KLK4 
Cloud-Clone Corp. CLIAs for KLK4


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

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 Q9Y5K2

ProtoNet protein and cluster: Q9Y5K2

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


UniProtKB/Swiss-Prot: KLK4_HUMAN, Q9Y5K2
Similarity: Belongs to the peptidase S1 family. Kallikrein subfamily
Similarity: Contains 1 peptidase S1 domain


KLK4 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

Molecular Function:

     UniProtKB/Swiss-Prot Summary: KLK4_HUMAN, Q9Y5K2
Function: Involved in enamel formation

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

     Gene Ontology (GO): 4 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--
GO:0008236serine-type peptidase activity NAS10438493
GO:0046872metal ion binding IEA--
     
KLK4 for ontologies           About GeneDecksing


Phenotypes:
     4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Klk4):
 craniofacial  growth/size  homeostasis/metabolism  mortality/aging 

KLK4 for phenotypes           About GeneDecksing

Animal Models:
   inGenious Targeting Laboratory - Custom generated mouse model solutions for KLK4 
   inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for KLK4

   genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for KLK4 
   genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for KLK4 

miRNA
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QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat KLK4
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SwitchGear 3'UTR luciferase reporter plasmidKLK4 3' UTR sequence
Inhib. RNA
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Gene Editing
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Sirion Biotech Customized adenovirus for overexpression of KLK4

Clone
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OriGene clones in human, mouse for KLK4 (see all 7)
OriGene ORF clones in mouse, rat for KLK4
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector: KLK4 (NM_004917)
Sino Biological Human cDNA Clone for KLK4
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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KLK4
Sirion Biotech Customized lentivirus for stable overexpression of KLK4 
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Cell Line
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Search LifeMap BioReagents cell lines for KLK4
In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KLK4


(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

SuperPaths for KLK4 About                                                                                                See pathways by source

SuperPathContained pathways About
1Collagen biosynthesis and modifying enzymes
Intrinsic Prothrombin Activation Pathway0.40
Blood Coagulation Cascade0.39
2MSP-RON Signaling
MSP-RON Signaling

3 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for KLK4
    MSP-RON Signaling
Blood Coagulation Cascade
Intrinsic Prothrombin Activation Pathway



Interactions:

    SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for KLK4

STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

4 Interacting proteins for KLK4 (Q9Y5K23 ENSP000003261594) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
SHBGP042783, ENSP000003698164I2D: score=2 STRING: ENSP00000369816
SERPINA3P010113I2D: score=1 
PLAURENSP000003393284STRING: ENSP00000339328
--ENSP000002619814STRING: ENSP00000261981
About this table

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

GO IDQualified GO termEvidencePubMed IDs
GO:0006508proteolysis NAS10438493
GO:0097186amelogenesis IMP15235027

KLK4 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

KLK4 for compounds           About GeneDecksing

Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for KLK4

3 Novoseek inferred chemical compound relationships for KLK4 gene    About this table
Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
serine 66.5 42 10077646 (5), 10863090 (3), 10438493 (1), 17587816 (1) (see all 15)
progesterone 23.6 8 19147544 (3), 11344246 (2), 19190825 (1)
estrogen 9.85 10 20009893 (3), 11344246 (2)

Search CenterWatch for drugs/clinical trials and news about KLK4

(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 KLK4 gene: 
NM_004917.3  

Unigene Cluster for KLK4:

Kallikrein-related peptidase 4
Hs.218366  [show with all ESTs]
Unigene Representative Sequence: BU188282
8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000324041(uc002pty.1 uc002ptz.1 uc002pua.1 uc002pub.1 uc002puc.1 uc010eoi.1 uc002pud.1)
ENST00000597441 ENST00000598305 ENST00000593885 ENST00000599865 ENST00000602148
ENST00000596876 ENST00000431178
miRNA
Products:
     
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat KLK4
Search QIAGEN for miScript miRNA Assays for microRNAs that regulate KLK4
SwitchGear 3'UTR luciferase reporter plasmidKLK4 3' UTR sequence
Inhib. RNA
Products:
     
Browse for Gene Knock-down Tools from EMD Millipore
OriGene RNAi products in human, mouse, rat for KLK4
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat KLK4
Clone
Products:
     
OriGene clones in human, mouse for KLK4 (see all 7)
OriGene ORF clones in mouse, rat for KLK4
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector: KLK4 (NM_004917)
DNA2.0 Custom Codon Optimized Gene Synthesis Service for KLK4
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KLK4
Sirion Biotech Customized lentivirus for stable overexpression of KLK4 
                     Customized lentivirus expression plasmids for stable overexpression of KLK4 
Primer
Products:
    
OriGene qPCR primer pairs and template standards for KLK4
OriGene qSTAR qPCR primer pairs in human, mouse for KLK4
SABiosciences RT2 qPCR Primer Assay in human, mouse, rat KLK4
  QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KLK4
  QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KLK4

Additional mRNA sequence: 

AF113140.1 AF259964.1 AF259965.1 AF259966.1 AF259967.1 AF259968.1 AF259969.1 AF259971.1 
AK309958.1 AY923170.1 BC069325.1 BC069403.1 BC069429.1 BC069489.1 BC096175.1 BC096176.3 
BC096177.3 BC096178.3 

6 DOTS entries:

DT.101980454  DT.40267708  DT.92418872  DT.99934760  DT.121410173  DT.95266046 

24/43 AceView cDNA sequences (see all 43):

CF134924 AF113140 AI888156 AF259969 CF147341 AF259964 AI686689 AF259967 
BC069489 BC069325 CF139171 AF259970 AA603977 AF259971 AF259968 BU151248 
AA336074 AF126401 NM_004917 BC069429 CF147425 BC069403 AI675815 AF259966 

GeneLoc Exon Structure

5/8 Alternative Splicing Database (ASD) splice patterns (SP) for KLK4 (see all 8)    About this scheme

ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b · 6c
SP1:                                -     -                                             
SP2:                                      -                                             
SP3:        -                             -                                             
SP4:                                                                                    
SP5:                                -     -           -     -     -                     


ECgene alternative splicing isoforms for KLK4

(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

KLK4 expression in normal human tissues (normalized intensities)      KLK4 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: AAATTGACCC
KLK4 Expression
About this image


KLK4 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database 
 5/3 selected tissues (see all 3) fully expand
 
 Prostate (Endocrine System)
         prostate gland   
 
 Testis (Reproductive System)
         Sertoli cells Seminiferous Tubules
 
 Tooth (Integumentary System)
         Ameloblasts Dental Enamel

See KLK4 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for KLK4

SOURCE GeneReport for Unigene cluster: Hs.218366

UniProtKB/Swiss-Prot: KLK4_HUMAN, Q9Y5K2
Tissue specificity: Expressed in prostate

    SABiosciences Custom PCR Arrays for KLK4
Primer
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QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KLK4
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KLK4

(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 human and mouse.

Orthologs for KLK4 gene from 1/6 species (see all 6)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Klk41 , 5 kallikrein related-peptidase 4 (prostase, enamel matrix, more1, 5 74.67(n)1
68.9(a)1
  7 (28.35 cM)5
566401  NM_019928.11  NP_064312.11 
 438811725 


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

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for KLK4 gene
KLK102  ENSG000002697412  KLK12  PRSS372  KLK112  KLK72  KLK142  KLK92  
KLK122  KLK132  KLK62  KLK22  KLK152  KLK52  PRSS12  PRSS582  
PRSS32  KLK82  KLK32  
18/105 SIMAP similar genes for KLK4 using alignment to 9 protein entries:     KLK4_HUMAN (see all proteins) (see all similar genes):
KLK5    KLK6    KLK8    F10    HAT    KLK11
KLK7    PRSS1    GZMM    KLK14    CFD    KLK9
KLK12    PRSS3    GZMB    KLK3    KLK15    TRY6

KLK4 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

10/190 SNPs in KLK4 are shown (see all 190)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 19 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1048947041,2
C,Fpathogenic151411852(-) TGGCTG/AGGGTC 2 /* /W stg11Minor allele frequency- A:0.00NA 4540
rs1164598171,2
F--51409220(+) TTGCTG/ATCACT 1 -- ds50011Minor allele frequency- A:0.02WA 118
rs1822710261,2
--51409387(+) TCTACA/GGTTAC 1 -- ds50010--------
rs11391321,2
C,F--51409763(-) CAGGTC/ACCAGC 1 -- ut3110Minor allele frequency- A:0.41NA MN WA CSA EA 553
rs16545561,2
C,F,A,H--51409803(-) GTCCAA/GGCCCC 1 -- ut31 ese311Minor allele frequency- G:0.30MN NA WA CSA EA 558
rs121509611,2
C,F--51409876(+) gggggG/Atctgg 1 -- ut31 ese31Minor allele frequency- A:0.00NA 2
rs27394981,2
C--51409913(+) TGGACC/TCCTGG 1 -- ut311Minor allele frequency- T:0.50WA 2
rs16545551,2
C,A--51409971(-) CAGCCC/TCTCCT 1 -- ut31 ese3 trp30--------
rs121512111,2
C,A--51409980(+) tggACC/Tcctgg 1 -- ut31 ese30--------
rs2022207641,2
C--51410142(+) CCTTCC/TGCAGG 1 -- ut311Minor allele frequency- T:0.00EU 593

HapMap Linkage Disequilibrium report for KLK4 (51409608 - 51413994 bp)

Structural Variations
     Database of Genomic Variants (DGV) 1 variation for KLK4:    About this table     
Variant IDTypeSubtypePubMed ID
esv1633192CNV Deletion17803354


Human Gene Mutation Database (HGMD): KLK4
SABiosciences Cancer Mutation PCR Assays
SeqTarget long-range PCR primers for resequencing KLK4
DNA2.0 Custom Variant and Variant Library Synthesis for KLK4

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
OMIM gene information: 603767   
OMIM disorders: 204700  
UniProtKB/Swiss-Prot: KLK4_HUMAN, Q9Y5K2
  • 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. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 20 diseases for KLK4:    About MalaCards
    amelogenesis imperfecta, hypomaturation type, iia1    urethral syndrome    amelogenesis imperfecta, type iia1    amelogenesis imperfecta hypomaturation type
    dental fluorosis    dentin dysplasia    endometrial carcinoma    amelogenesis imperfecta
    dentinogenesis imperfecta    prostate cancer, progression of    urethritis    ovarian cancer
    prostate cancer    prostatitis    meningioma    colon cancer
    adenoma    breast cancer    pancreatitis    leukemia

    3 diseases from the University of Copenhagen DISEASES database for KLK4:
    Amelogenesis imperfecta     Prostate cancer     Urethral syndrome

    KLK4 for disorders           About GeneDecksing

    9 Novoseek inferred disease relationships for KLK4 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    amelogenesis imperfecta 91.3 4 18096894 (1), 18627287 (1), 19966041 (1), 18714142 (1)
    prostate cancer 50.3 35 17545602 (5), 12370833 (3), 16322328 (3), 20180634 (3) (see all 14)
    endometrial carcinoma 36.2 2 11489814 (1), 20009893 (1)
    ovarian cancer 31.7 7 11489816 (3), 15262123 (1), 16557045 (1), 11489814 (1)
    ovarian carcinoma 31.3 7 11489814 (5), 15262123 (1), 12738725 (1)
    cancer 15.2 7 19147544 (3), 12370833 (1), 20056842 (1), 16557045 (1)
    adenoma 3.35 1 11489814 (1)
    tumors 0.1 22 11489814 (4), 11489816 (3), 12370833 (2), 18221492 (2) (see all 9)
    carcinoma 0 2 11489814 (1)

    Genetic Association Database (GAD): KLK4
    Human Genome Epidemiology (HuGE) Navigator: KLK4 (7 documents)

    Export disorders for KLK4 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 KLK4 gene, integrated from 9 sources (see all 90):
    (articles sorted by number of sources associating them with KLK4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of the mouse and human PRSS17 genes, their relationship to other serine proteases, and the expression of PRSS17 in developing mouse incisors. (PubMed id 10863090)1, 2, 3, 9 Hu J.C.-C.... Simmer J.P. (2000)
    2. Molecular cloning and characterization of prostase, an androgen- regulated serine protease with prostate-restricted expression. (PubMed id 10077646)1, 2, 3, 9 Nelson P.S....Wang K. (1999)
    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. (PubMed id 10438493)1, 2, 3, 9 Stephenson S.A.... Clements J.A. (1999)
    4. Prostase/KLK-L1 is a new member of the human kallikrein gene family, is expressed in prostate and breast tissues, and is hormonally regulated. (PubMed id 10485467)1, 2, 9 Yousef G.M.... Diamandis E.P. (1999)
    5. Candidate gene approach evaluates association between innate immunity genes and breast cancer risk in Korean women. (PubMed id 19372141)1, 4, 9 Lee J.Y....Kang D. (2009)
    6. Blood biomarker levels to aid discovery of cancer-rel ated single-nucleotide polymorphisms: kallikreins and prostate cancer. (PubMed id 20424135)1, 4 Klein R.J....Lilja H. (2010)
    7. Risk of meningioma and common variation in genes rela ted to innate immunity. (PubMed id 20406964)1, 4 Rajaraman P....Inskip P.D. (2010)
    8. Polymorphisms in innate immunity genes and risk of ch ildhood leukemia. (PubMed id 20438785)1, 4 Han S....Kang D. (2010)
    9. Susceptibility loci associated with prostate cancer p rogression and mortality. (PubMed id 20460480)1, 4 Gallagher D.J....Offit K. (2010)
    10. A comprehensive nomenclature for serine proteases with homology to tissue kallikreins. (PubMed id 16800724)1, 3 Lundwall A....Yousef G.M. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 9622 HGNC: 6365 AceView: KLK4 Ensembl:ENSG00000167749 euGenes: HUgn9622
    ECgene: KLK4 H-InvDB: KLK4

    (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 KLK4 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for KLK4 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for KLK4 gene:
    Search GeneIP for patents involving KLK4

    GeneCards and IP:
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