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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 hormonal... See more...
Aliases for KLK4 Gene
Aliases for KLK4 Gene
External Ids for KLK4 Gene
- HGNC: 6365
- NCBI Entrez Gene: 9622
- Ensembl: ENSG00000167749
- OMIM®: 603767
- UniProtKB/Swiss-Prot: Q9Y5K2
Previous HGNC Symbols for KLK4 Gene
- PRSS17
Previous GeneCards Identifiers for KLK4 Gene
- GC19M052036
- GC19M051770
- GC19M056085
- GC19M056101
- GC19M051409
- GC19M047742
Summaries 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 Collagen chain trimerization and MSP-RON Signaling. 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 Summary 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).
Additional gene information for KLK4 Gene
- HGNC (6365)
- NCBI Entrez Gene (9622)
- Ensembl (ENSG00000167749)
- OMIM® (603767)
- UniProtKB/Swiss-Prot (Q9Y5K2)
- Open Targets Platform(ENSG00000167749)
- Monarch Initiative
- Search for KLK4 at DataMed
- Search for KLK4 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KLK4 Gene
Genomics for KLK4 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for KLK4 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 KLK4 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KLK4
- Top Transcription factor binding sites by QIAGEN in the KLK4 gene promoter:
-
- AhR
- Arnt
- GATA-1
- GR
- GR-alpha
- NF-1
- SRF
- SRF (504 AA)
- XBP-1
- ZIC2
Genomic Locations for KLK4 Gene
Latest Assembly
- chr19:50,906,351-50,910,745
- (GRCh38/hg38)
- Size:
- 4,395 bases
- Orientation:
- Minus strand
Previous Assembly
- chr19:51,409,607-51,413,994
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 4,388 bases
- Orientation:
- Minus strand
- chr19:51,409,608-51,413,994
- (GRCh37/hg19 by Ensembl)
- Size:
- 4,387 bases
- Orientation:
- Minus strand
Genomic View for KLK4 Gene
Genes around KLK4 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 19q13.41 by HGNC
- 19q13.41 by Entrez Gene
- 19q13.41 by Ensembl
KLK4 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for KLK4 Gene
Proteins for KLK4 Gene
-
Protein details for KLK4 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9Y5K2-KLK4_HUMAN
- Recommended name:
- Kallikrein-4
- Protein Accession:
- Q9Y5K2
- Q4VB16
- Q96RU5
- Q9GZL6
- Q9UBJ6
Protein attributes for KLK4 Gene
- Size:
- 254 amino acids
- Molecular mass:
- 27032 Da
- Quaternary structure:
- No Data Available
Three dimensional structures from OCA and Proteopedia for KLK4 Gene
Selected DME Specific Peptides for KLK4 Gene
- Q9Y5K2:
-
- CNGDSGGP
- GDSGGPL
- WVLSAAHC
- SGGPLIC
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
- NX_Q9Y5K2 (NX_Q9Y5K2-1)
- Modification sites at PhosphoSitePlus
Other Protein References for KLK4 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- LifeSpan BioSciences KLK4 / Kallikrein 4 Antibody
- Novus Biologicals Antibodies for KLK4
-
Abcam antibodies for KLK4
- Invitrogen Antibodies for KLK4 (AFLGC-KLK4)
-
Custom Antibody ServicesProSci Antibodies for KLK4
-
Santa Cruz Biotechnology (SCBT) Antibodies for KLK4
- Sino Biological Antibodies for KLK4
Protein products for research
- G Biosciences Human Kallikrein 4/EMSP1/KLK4, Lyophilized
-
OriGene Purified Proteins for KLK4
- Search Origene for MassSpec and Protein Over-expression Lysates for KLK4
- Origene Custom Protein Services for KLK4
- Novus Biologicals proteins for KLK4
- Sino Biological Recombinant Proteins for KLK4
- Sino Biological Cell Lysates for KLK4
-
ProSci Proteins for KLK4
-
Abcam proteins for KLK4
Domains & Families for KLK4 Gene
Gene Families for KLK4 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Cancer-related genes
- Disease related genes
- Enzymes
- Potential drug targets
- Predicted intracellular proteins
- Predicted secreted proteins
Protein Domains for KLK4 Gene
- InterPro:
- Blocks:
-
- Serine protease, trypsin family
- Chymotrypsin serine protease family (S1) signature
- ProtoNet:
Suggested Antigen Peptide Sequences for KLK4 Gene
- GenScript: Design optimal peptide antigens:
-
- Kallikrein (B1GRN1_HUMAN)
- Serine protease 17 (KLK4_HUMAN)
- Kallikrein-related peptidase 4 (Q4VB17_HUMAN)
- KLK4 protein (Q4VB18_HUMAN)
- Kallikrein 4 (Q5BQA0_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q9Y5K2- Family:
-
- Belongs to the peptidase S1 family. Kallikrein subfamily.
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
| 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 | TAS,NAS | 10438493 |
| GO:0016787 | hydrolase activity | IEA | -- |
Phenotypes for KLK4 Gene
- MGI mutant phenotypes for KLK4:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for KLK4:
Animal Models for KLK4 Gene
Animal Models for research
-
Taconic Biosciences Mouse Models for KLK4
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for KLK4 - Starting at $85 >
- * KLK4 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for KLK4
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for KLK4
-
Santa Cruz Biotechnology (SCBT) CRISPR for KLK4
miRNA for KLK4 Gene
- miRTarBase miRNAs that target KLK4
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for KLK4
- Browse OriGene Inhibitory RNA Products For KLK4
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KLK4
Clone products for research
- Applied Biological Materials (abm): Clones for KLK4 - Starting at $45 >
- * KLK4 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for KLK4
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for KLK4
Cell Lines for research
-
Horizon Cell Lines for KLK4
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
- Secreted.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| nucleus | 3 |
| plasma membrane | 2 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| endoplasmic reticulum | 2 |
| cytosol | 2 |
| lysosome | 2 |
| golgi apparatus | 2 |
| peroxisome | 1 |
| endosome | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | TAS,IEA | -- |
| GO:0030141 | secretory granule | IBA | 21873635 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for KLK4 Gene
Pathways & Interactions for KLK4 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Collagen chain trimerization |
Intrinsic Prothrombin Activation Pathway
.48
|
Blood Coagulation Cascade
.46
|
| 2 | MSP-RON Signaling |
MSP-RON Signaling
-
|
|
Pathways by source for KLK4 Gene
3 Qiagen pathways for KLK4 Gene
- Blood Coagulation Cascade
- Intrinsic Prothrombin Activation Pathway
- MSP-RON Signaling
Interacting Proteins for KLK4 Gene
Selected Interacting proteins:
Q9Y5K2-KLK4_HUMAN
ENSP00000326159
for KLK4 Gene via
UniProtKB
STRING
IID
| Symbol | External ID(s) | Details |
|---|---|---|
| TYRO3 | ||
| APP | ||
| EPPIN | ||
| EPPIN-WFDC6 | ||
| HLA-DRA |
GPS-Prot Interaction Network for KLK4
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006508 | proteolysis | NAS | 10438493 |
| GO:0022617 | extracellular matrix disassembly | IBA | 21873635 |
| GO:0030163 | protein catabolic process | IEA | -- |
| GO:0031214 | biomineral tissue development | IEA | -- |
| GO:0097186 | amelogenesis | IMP | 15235027 |
Drugs & Compounds for KLK4 Gene
Drug products for research
- G Biosciences Human Kallikrein 4/EMSP1/KLK4, Lyophilized
Transcripts for KLK4 Gene
mRNA/cDNA for KLK4 Gene
- 2 REFSEQ mRNAs :
- 21 NCBI additional mRNA sequence :
- 8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000324041 1347 nts (view in UCSC)
- ENST00000431178 481 nts (view in UCSC)
- ENST00000593885 691 nts (view in UCSC)
- ENST00000596876 983 nts (view in UCSC)
- ENST00000597441 259 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for KLK4 - Starting at $85 >
- * KLK4 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for KLK4
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for KLK4
-
Santa Cruz Biotechnology (SCBT) CRISPR for KLK4
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for KLK4
- Browse OriGene Inhibitory RNA Products For KLK4
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KLK4
Clone products for research
- Applied Biological Materials (abm): Clones for KLK4 - Starting at $45 >
- * KLK4 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for KLK4
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for KLK4
| ExUns: | 1 | ^ | 2a | · | 2b | · | 2c | · | 2d | · | 2e | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | · | 5c | ^ | 6a | · | 6b | · | 6c |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | |||||||||||||||||||||||||
| SP2: | - | ||||||||||||||||||||||||||
| SP3: | - | - | |||||||||||||||||||||||||
| SP4: | |||||||||||||||||||||||||||
| SP5: | - | - | - | - | - | ||||||||||||||||||||||
| SP6: | - | - | |||||||||||||||||||||||||
| SP7: | |||||||||||||||||||||||||||
| SP8: | - |
Relevant External Links for KLK4 Gene
- GeneLoc Exon Structure for
- KLK4
Expression for KLK4 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Tooth (Integumentary System)
- Dental Papilla Cells Dental Papilla
- Inner Enamel Epithelial Cells Dental Enamel
- Ameloblasts Dental Enamel
- Dentin
-
Testis (Reproductive System)
- Sertoli cells Seminiferous Tubules
-
Epithelial Cells
- Inner Enamel Epithelial Cells Dental Enamel
-
Prostate (Endocrine System)
mRNA differential expression in normal tissues according to GTEx for KLK4 Gene
This gene is overexpressed in Prostate (x48.1).
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KLK4
SOURCE GeneReport for Unigene cluster for KLK4 Gene:
Hs.218366mRNA Expression by UniProt/SwissProt for KLK4 Gene:
Q9Y5K2-KLK4_HUMAN
Tissue specificity:
Expressed in prostate.
Evidence on tissue expression from TISSUES for KLK4 Gene
- Blood(2.9)
- Urine(2.5)
- Kidney(2.5)
- Heart(2.4)
- Nervous system(2.3)
- Saliva(2.2)
- Skin(2.1)
- Muscle(2.1)
- Intestine(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for KLK4 Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- skeleton
Regions:
Head and neck:
- head
- jaw
- mandible
- maxilla
- mouth
- skull
- tooth
Primer products for research
-
OriGene qPCR primer pairs for KLK4
-
OriGene qPCR primer pairs and template standards for KLK4
Gene Expression Assays for research
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | KLK4 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | KLK4 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | KLK4 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Klk4 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Klk4 30 17 31 |
|
OneToOne |
- Species where no ortholog for KLK4 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)
- 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 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 KLK4 Gene
- ENSEMBL:
- Gene Tree for KLK4 (if available)
- TreeFam:
- Gene Tree for KLK4 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for KLK4: view image
Paralogs for KLK4 Gene
Paralogs for KLK4 Gene
(104) SIMAP similar genes for KLK4 Gene using alignment to 9 proteins:
- KLK4_HUMAN
- B1GRN1_HUMAN
- M0QYN5_HUMAN
- Q4VB17_HUMAN
- Q4VB18_HUMAN
- Q5BQA0_HUMAN
- Q96PT0_HUMAN
- Q96PT1_HUMAN
- Q96RU5_HUMAN
- KLK5
- KLK6
- KLK8
- F10
- KLK11
- HAT
- KLK7
- PRSS1
- KLK14
- GZMM
- CFD
- KLK9
- KLK12
- KLK3
- PRSS3
- GZMB
- TRY8
- KLK15
- DF
- KLK2
- PRSS45
- APS
- PRSS2
- CMA1
- KLK13
- KLK1
- PROC
- PRSS47
- PRSS46
- GZMK
- CTSG
- PRSS36
- TMPRSS11F
- TMPRSS11B
- GZMH
- PRSS57
- PRSSL1
- CTRB1
- factor IX F9
- TMPRSS13
- serase-1B
- KLK10
- CELA1
- GZMA
- OVCH1
- F9 p22
- HGFAC
- TPSB2
- CELA3A
- TPSAB1
- PROC1
- TMPRSS6
- PRSS38
- ELANE
- C1S
- TMPRSS3
- F2
- PRSS8
- PRSS56
- TMPRSS4
- tryptaseC
- TMPRSS12
- F11
- ELA2
- DKFZp586F0824
- PRTN3
- PRSS44
- TMPRSS15
- HP
- CORIN
- TMPRSS5
- TMPRSS9
- TMPRSS11D
- PRSS21
- PRSS12
- LOC136242
- HPN
- ELA3A
- CTRC
- CELA3B
- F12
- MST1
- PLAT
- PLAU
- DESC1
- F7
- KLKB1
- DKFZp779M0222
- CTRB2
- TPSG1
- TPSD1
- AZU1
- PRSS55
- CFI
- CELA2A
- TMPRSS2
- F9
- OVCH2
- PRSS27
- TMPRSS7
- TMPRSS11A
- HABP2
- ELA2A
- C1R
Variants for KLK4 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KLK4 Gene
| SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 978005 | Uncertain Significance: Male infertility; Inborn genetic diseases | 50,907,019(-) |
G/A NM_004917.4(KLK4):c.680C>T (p.Pro227Leu) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT | |
| 986162 | Uncertain Significance: Inborn genetic diseases | 50,907,002(-) |
C/T NM_004917.4(KLK4):c.697G>A (p.Val233Met) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT | |
| rs104894704 | Pathogenic: Amelogenesis imperfecta, hypomaturation type, IIA1 | 50,908,596(-) |
C/T NM_004917.4(KLK4):c.458G>A (p.Trp153Ter) |
NONSENSE,NON_CODING_TRANSCRIPT | |
| rs1654552 | Benign: not specified | 50,909,410(-) |
C/A NM_004917.4(KLK4):c.66G>T (p.Ser22=) |
SYNONYMOUS_VARIANT,FIVE_PRIME_UTR | |
| rs198966 | Benign: not provided | 50,908,754(-) |
G/A NM_004917.4(KLK4):c.300C>T (p.Ser100=) |
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv1633192 | CNV | deletion | 17803354 |
| esv3583473 | CNV | loss | 25503493 |
| nsv1140251 | OTHER | inversion | 24896259 |
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
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KLK4 Gene
Disorders for KLK4 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| amelogenesis imperfecta, hypomaturation type, iia1 |
|
|
| amelogenesis imperfecta hypomaturation type |
|
|
| amelogenesis imperfecta |
|
|
| prosopagnosia |
|
|
| parotid disease |
|
|
Search KLK4 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
KLK4_HUMAN- 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 variants affecting the gene represented in this entry.
Additional Disease Information for KLK4
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for Genatlas for KLK4 Gene
Publications for KLK4 Gene
- 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 23
- 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 23
- 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 23
- 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 23 41
- Mutation in kallikrein 4 causes autosomal recessive hypomaturation amelogenesis imperfecta. (PMID: 15235027) Hart PS … Wright JT (Journal of medical genetics 2004) 3 4 74
ExternalLinks
Products for KLK4 Gene
- View all 2 R&D Systems KLK4 (Kallikrein 4/Prostase/EMSP1) Products
- View all R&D Systems KLK4 (Kallikrein 4/Prostase/EMSP1) Proteins and Enzymes
- View all R&D Systems KLK4 (Kallikrein 4/Prostase/EMSP1) Primary Antibodies
- Learn more about R&D Systems custom KLK4 antibody, protein, and immunoassay development services
- Custom Antibody Services
- Custom Assay ServicesOriGene ELISA Kits for KLK4
- OriGene Purified Proteins for KLK4
- Search Origene for MassSpec and Protein Over-expression Lysates for KLK4
- Origene Custom Protein Services for KLK4
- Origene shrna, sirna, and RNAi products in human, mouse, rat for KLK4
- Browse OriGene Inhibitory RNA Products For KLK4
- OriGene qPCR primer pairs for KLK4
- OriGene qPCR primer pairs and template standards for KLK4
- OriGene CRISPR knockouts for KLK4
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For KLK4
- Sino Biological Human cDNA Clone for KLK4
- Sino Biological Recombinant Proteins for KLK4
- Sino Biological Cell Lysates for KLK4
- Sino Biological Antibodies for KLK4
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- High-throughput Antibody Production Service
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- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for KLK4
- Novus Biologicals proteins for KLK4
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- Abcam antibodies for KLK4
- Abcam proteins for KLK4
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- Taconic Biosciences Mouse Models for KLK4
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- Invitrogen Antibodies for KLK4 (AFLGC-KLK4)
- VectorBuilder Custom and pre-made DNA vectors for KLK4 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for KLK4 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for KLK4 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for KLK4 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for KLK4
- antibodies-online: Show 13 available Kallikrein 4 Antibodies ranked by validation data
- Compare Top Kallikrein 4 Antibodies
- antibodies-online: Show 24 available Kallikrein 4 Elisa Kits ranked by validation data
- Compare Top Kallikrein 4 Elisa Kits
- antibodies-online: Show 24 available Kallikrein 4 Proteins ranked by validation data
- Compare Top Kallikrein 4 Proteins
- Santa Cruz Biotechnology (SCBT) Antibodies for KLK4
- Search Santa Cruz Biotechnology (SCBT) for KLK4 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for KLK4
- Custom Antibody ServicesProSci Antibodies for KLK4
- ProSci Proteins for KLK4
- Horizon Cell Lines for KLK4
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for KLK4
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for KLK4
- Search GeneCopoeia for miRNA 3'UTR Target clone products for KLK4
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KLK4
Sources for KLK4 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Mar-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) MedlinePlus Genetics
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNAcentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Open Targets Platform
- (175) 5SRRNADB
- (176) snoDB
- (177) MirGeneDB