KLK8 Gene (Protein Coding)

Kallikrein Related Peptidase 8

GC19M050996
GIFtS:
42
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 tandem in a gene cluster on chromosome 19. The encoded protein may be ... See more...

Aliases for KLK8 Gene

Aliases for KLK8 Gene

  • Kallikrein Related Peptidase 8 2 3 5
  • TADG14 2 3 4
  • Ovasin 2 3 4
  • Tumor-Associated Differentially Expressed Gene 14 Protein 3 4
  • Serine Protease TADG-14 3 4
  • Serine Protease 19 3 4
  • Kallikrein-8 3 4
  • Neuropsin 2 4
  • PRSS19 3 4
  • NRPN 3 4
  • HNP 2 3
  • NP 3 4
  • Kallikrein 8 (Neuropsin/Ovasin) 2
  • EC 3.4.21.118 4
  • EC 3.4.21 51
  • KLK8 5
  • HK8 4

External Ids for KLK8 Gene

Previous HGNC Symbols for KLK8 Gene

  • PRSS19

Previous GeneCards Identifiers for KLK8 Gene

  • GC19M052129
  • GC19M051860
  • GC19M056175
  • GC19M056191
  • GC19M051499
  • GC19M047832

Summaries for KLK8 Gene

Entrez Gene Summary for KLK8 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 tandem in a gene cluster on chromosome 19. The encoded protein may be involved in proteolytic cascade in the skin and may serve as a biomarker for ovarian cancer. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]

GeneCards Summary for KLK8 Gene

KLK8 (Kallikrein Related Peptidase 8) is a Protein Coding gene. Diseases associated with KLK8 include Keratosis and Ovarian Cancer. Among its related pathways are Collagen chain trimerization and Developmental Biology. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase activity. An important paralog of this gene is KLK5.

UniProtKB/Swiss-Prot Summary for KLK8 Gene

  • Serine protease which is capable of degrading a number of proteins such as casein, fibrinogen, kininogen, fibronectin and collagen type IV. Also cleaves L1CAM in response to increased neural activity. Induces neurite outgrowth and fasciculation of cultured hippocampal neurons. Plays a role in the formation and maturation of orphan and small synaptic boutons in the Schaffer-collateral pathway, regulates Schaffer-collateral long-term potentiation in the hippocampus and is required for memory acquisition and synaptic plasticity. Involved in skin desquamation and keratinocyte proliferation. Plays a role in the secondary phase of pathogenesis following spinal cord injury.

Gene Wiki entry for KLK8 Gene

Additional gene information for KLK8 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KLK8 Gene

Genomics for KLK8 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for KLK8 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
GH19J050999 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 260.5 +1.2 1240 3.5 TBP MNT IKZF1 NBN TRIM25 ZNF341 ZBTB5 SKIL NKRF PRDM10 KLK8 HSALNG0127160 HSALNG0127161 lnc-KLK9-1 KLK7 KLK10 ENSG00000269741 KLK9 ENSG00000267879
GH19J050720 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 4.8 +279.3 279266 5.9 TBP ZBTB10 MNT IKZF1 SMAD5 IRF2 MBD2 ZNF217 CTCF BHLHE40 CLEC11A NUP62 ZNF175 CTU1 C19orf48 GPR32 ENSG00000268047 AKT1S1 SNORD88A SNORD88B
GH19J050727 Promoter/Enhancer 1.7 Ensembl ENCODE CraniofacialAtlas 4.8 +274.3 274272 1.4 TBP SIX5 MNT IKZF1 IRF2 BHLHE40 NONO THAP11 HCFC1 VEZF1 SHANK1 SYT3 ENSG00000267890 GPR32 IGLON5 LRRC4B SNORD88A SNORD88B SNORD88C LINC01869
GH19J050991 Enhancer 0.6 Ensembl ENCODE 7.1 +10.1 10119 2.1 JUND DPF2 FOSL2 RFX1 FOS KLK7 KLK8 lnc-KLK9-1 ENSG00000267879
GH19J051792 Enhancer 0.6 dbSUPER 4.6 -790.7 -790684 1.6 ZEB2 TAL1 TCF12 TEAD4 ZMYM3 MEIS2 ARID1B ATF3 CBFA2T2 PKNOX1 FPR3 KLK8 lnc-FPR3-1 FPR1 FPR2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KLK8 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KLK8

Top Transcription factor binding sites by QIAGEN in the KLK8 gene promoter:
  • AML1a
  • c-Myb
  • c-Myc
  • C/EBPbeta
  • Evi-1
  • Gfi-1
  • HEN1
  • Max1
  • Zic3

Genomic Locations for KLK8 Gene

Latest Assembly
chr19:50,996,007-51,002,711
(GRCh38/hg38)
Size:
6,705 bases
Orientation:
Minus strand

Previous Assembly
chr19:51,499,264-51,504,860
(GRCh37/hg19 by Entrez Gene)
Size:
5,597 bases
Orientation:
Minus strand

chr19:51,499,263-51,505,967
(GRCh37/hg19 by Ensembl)
Size:
6,705 bases
Orientation:
Minus strand

Genomic View for KLK8 Gene

Genes around KLK8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KLK8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KLK8 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for KLK8 Gene

Proteins for KLK8 Gene

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  • Protein details for KLK8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60259-KLK8_HUMAN
    Recommended name:
    Kallikrein-8
    Protein Accession:
    O60259
    Secondary Accessions:
    • Q5V9X1
    • Q5V9X2
    • Q8IW69
    • Q9HCB3
    • Q9NR68
    • Q9NR69
    • Q9UIL9
    • Q9UQ47

    Protein attributes for KLK8 Gene

    Size:
    260 amino acids
    Molecular mass:
    28048 Da
    Quaternary structure:
    • Interacts with SPINK9.
    Miscellaneous:
    • Expressed at high levels in serum, ascites fluid and tumor cytosol of advanced stage ovarian cancer patients and may serve as a marker of ovarian cancer.
    • [Isoform 2]: Produced as a result of a human-specific mutation which is not found in other primates.

    Three dimensional structures from OCA and Proteopedia for KLK8 Gene

    Alternative splice isoforms for KLK8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KLK8 Gene

Protein Expression for KLK8 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for KLK8 Gene

O60259:
  • VLTAAHC
  • GDSGGPL
  • CQGDSGGP
  • WVLTAAH
  • SGGPLVC

Post-translational modifications for KLK8 Gene

  • Glycosylation at Asn110
  • Modification sites at PhosphoSitePlus

Other Protein References for KLK8 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Boster Bio Antibodies for KLK8

Domains & Families for KLK8 Gene

Gene Families for KLK8 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for KLK8 Gene

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

Suggested Antigen Peptide Sequences for KLK8 Gene

GenScript: Design optimal peptide antigens:
  • KLK8 protein type 1 (B3FQ94_HUMAN)
  • KLK8 protein type 2 (B3FQ95_HUMAN)
  • Tumor-associated differentially expressed gene 14 protein (KLK8_HUMAN)
  • Kallikrein 8 (Q2XQG5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O60259

UniProtKB/Swiss-Prot:

KLK8_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 KLK8: view

Function for KLK8 Gene

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  6. Cell Lines for research

Molecular function for KLK8 Gene

UniProtKB/Swiss-Prot Function:
Serine protease which is capable of degrading a number of proteins such as casein, fibrinogen, kininogen, fibronectin and collagen type IV. Also cleaves L1CAM in response to increased neural activity. Induces neurite outgrowth and fasciculation of cultured hippocampal neurons. Plays a role in the formation and maturation of orphan and small synaptic boutons in the Schaffer-collateral pathway, regulates Schaffer-collateral long-term potentiation in the hippocampus and is required for memory acquisition and synaptic plasticity. Involved in skin desquamation and keratinocyte proliferation. Plays a role in the secondary phase of pathogenesis following spinal cord injury.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Cleavage of amide substrates following the basic amino acids Arg or Lys at the P1 position, with a preference for Arg over Lys.; EC=3.4.21.118; Evidence={ECO:0000269|PubMed:16337200};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.07 mM for Pro-Phe-Arg-MCA {ECO:0000269|PubMed:16337200}; KM=0.07 mM for Z-Val-Val-Arg-MCA {ECO:0000269|PubMed:16337200}; KM=0.07 mM for Boc-Val-Pro-Arg-MCA {ECO:0000269|PubMed:16337200}; KM=0.10 mM for Boc-Leu-Lys-Arg-MCA {ECO:0000269|PubMed:16337200}; KM=0.10 mM for Boc-Val-Leu-Lys-MCA {ECO:0000269|PubMed:16337200}; KM=0.07 mM for Boc-Phe-Ser-Arg-MCA {ECO:0000269|PubMed:16337200}; Vmax=7.1 umol/min/mg enzyme toward Pro-Phe-Arg-MCA {ECO:0000269|PubMed:16337200}; Vmax=5.4 umol/min/mg enzyme toward Z-Val-Val-Arg-MCA {ECO:0000269|PubMed:16337200}; Vmax=3.9 umol/min/mg enzyme toward Boc-Val-Pro-Arg-MCA {ECO:0000269|PubMed:16337200}; Vmax=2.6 umol/min/mg enzyme toward Boc-Leu-Lys-Arg-MCA {ECO:0000269|PubMed:16337200}; Vmax=1.9 umol/min/mg enzyme toward Boc-Val-Leu-Lys-MCA {ECO:0000269|PubMed:16337200}; Vmax=1.6 umol/min/mg enzyme toward Boc-Phe-Ser-Arg-MCA {ECO:0000269|PubMed:16337200}; pH dependence: Optimum pH is 8.5. Active from pH 7-10. {ECO:0000269|PubMed:16337200};
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by a range of serine protease inhibitors including antipain, aprotinin, leupeptin, benzamidine and soybean trypsin inhibitor.

Enzyme Numbers (IUBMB) for KLK8 Gene

Phenotypes From GWAS Catalog for KLK8 Gene

Gene Ontology (GO) - Molecular Function for KLK8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004252 serine-type endopeptidase activity IDA 16337200
GO:0005515 protein binding IPI 17761692
GO:0008233 peptidase activity IEA --
GO:0008236 serine-type peptidase activity IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with KLK8: view
genes like me logo Genes that share phenotypes with KLK8: view

Animal Models for KLK8 Gene

MGI Knock Outs for KLK8:

Animal Models for research

  • Taconic Biosciences Mouse Models for KLK8

miRNA for KLK8 Gene

miRTarBase miRNAs that target KLK8

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KLK8

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for KLK8 Gene

Localization for KLK8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KLK8 Gene

Secreted. Cytoplasm. Note=Shows a cytoplasmic distribution in the keratinocytes.

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 KLK8 gene
Compartment Confidence
extracellular 5
plasma membrane 2
cytoskeleton 2
nucleus 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KLK8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space ISS --
GO:0005737 cytoplasm IEA,IDA 17761692
GO:0030141 secretory granule IBA 21873635
GO:0097180 serine protease inhibitor complex IDA 17761692
genes like me logo Genes that share ontologies with KLK8: view

Pathways & Interactions for KLK8 Gene

PathCards logo

SuperPathways for KLK8 Gene

SuperPathway Contained pathways
1 Collagen chain trimerization
Intrinsic Prothrombin Activation Pathway
.48
Blood Coagulation Cascade
.46
2 Keratinization
Formation of the cornified envelope
.33
Keratinization
.33
3 MSP-RON Signaling
MSP-RON Signaling
-
4 Developmental Biology
Developmental Biology
.51
5 Spinal Cord Injury
Spinal Cord Injury
-
genes like me logo Genes that share pathways with KLK8: view

Pathways by source for KLK8 Gene

1 BioSystems pathway for KLK8 Gene
3 Qiagen pathways for KLK8 Gene
  • Blood Coagulation Cascade
  • Intrinsic Prothrombin Activation Pathway
  • MSP-RON Signaling

Gene Ontology (GO) - Biological Process for KLK8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0007613 memory IBA,ISS --
GO:0008219 cell death ISS --
GO:0009611 response to wounding ISS --
GO:0031642 negative regulation of myelination ISS --
genes like me logo Genes that share ontologies with KLK8: view

No data available for SIGNOR curated interactions for KLK8 Gene

Drugs & Compounds for KLK8 Gene

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(1) Drugs for KLK8 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for KLK8 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with KLK8: view

Transcripts for KLK8 Gene

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mRNA/cDNA for KLK8 Gene

5 REFSEQ mRNAs :
20 NCBI additional mRNA sequence :
11 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 KLK8

Alternative Splicing Database (ASD) splice patterns (SP) for KLK8 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b ^ 6a · 6b · 6c ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10 ^ 11
SP1: - - -
SP2: - -
SP3: - - - - -
SP4: -
SP5:
SP6:
SP7: - - - - - -
SP8: - -

Relevant External Links for KLK8 Gene

GeneLoc Exon Structure for
KLK8

Expression for KLK8 Gene

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  1. Primer products for research
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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KLK8 Gene

mRNA expression in normal human tissues for KLK8 Gene
mRNA expression by BioGPS for KLK8 GenemRNA expression by GTEx for KLK8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KLK8 Gene

This gene is overexpressed in Esophagus - Mucosa (x16.5), Skin - Sun Exposed (Lower leg) (x12.4), Skin - Not Sun Exposed (Suprapubic) (x11.1), and Vagina (x4.9).

Protein differential expression in normal tissues from HIPED for KLK8 Gene

This gene is overexpressed in Oral epithelium (26.8), Esophagus (24.5), and Skin (17.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for KLK8 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KLK8

SOURCE GeneReport for Unigene cluster for KLK8 Gene:

Hs.104570

mRNA Expression by UniProt/SwissProt for KLK8 Gene:

O60259-KLK8_HUMAN
Tissue specificity: Isoform 1 is predominantly expressed in the pancreas. Isoform 2 is expressed in adult brain and hippocampus. Isoform 1 and isoform 2 are found in fetal brain and placenta. Detected in salivary gland, uterus, thymus, breast, testis and kidney but not in spleen, liver, lung or normal ovarian tissue. Displays an 11.5-fold increase in Alzheimer disease hippocampus compared to controls and is overexpressed in some ovarian carcinomas. Expressed at low levels in normal skin while high levels are found in psoriasis vulgaris, seborrheic keratosis, lichen planus and squamous cell carcinoma skin samples. Expressed in the keratinocytes.

Evidence on tissue expression from TISSUES for KLK8 Gene

  • Nervous system(4.4)
  • Skin(3)
genes like me logo Genes that share expression patterns with KLK8: view

Primer products for research

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for KLK8 Gene

Orthologs for KLK8 Gene

This gene was present in the common ancestor of mammals.

Orthologs for KLK8 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia KLK8 30 31
  • 99.23 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia KLK8 30
  • 83.27 (n)
Cow
(Bos Taurus)
 Mammalia KLK8 30 31
  • 80.31 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Klk8 30
  • 76.96 (n)
Mouse
(Mus musculus)
 Mammalia Klk8 30 17 31
  • 76.58 (n)
 OneToOne
Species where no ortholog for KLK8 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 KLK8 Gene

ENSEMBL:
Gene Tree for KLK8 (if available)
TreeFam:
Gene Tree for KLK8 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KLK8: view image

Paralogs for KLK8 Gene

Paralogs for KLK8 Gene

(90) SIMAP similar genes for KLK8 Gene using alignment to 6 proteins:

  • KLK8_HUMAN
  • B3FQ94_HUMAN
  • B3FQ95_HUMAN
  • M0R231_HUMAN
  • M0R390_HUMAN
  • Q2XQG5_HUMAN
genes like me logo Genes that share paralogs with KLK8: view

Variants for KLK8 Gene

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  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KLK8 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
rs16988799 - p.Val154Ile

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for KLK8 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 KLK8 Gene

Variant ID Type Subtype PubMed ID
esv3644662 CNV loss 21293372
nsv1058277 CNV gain 25217958
nsv1140251 OTHER inversion 24896259

Variation tolerance for KLK8 Gene

Residual Variation Intolerance Score: 26.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.58; 56.18% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KLK8 Gene

Human Gene Mutation Database (HGMD)
KLK8
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KLK8

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KLK8 Gene

Disorders for KLK8 Gene

MalaCards: The human disease database

(3) MalaCards diseases for KLK8 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
keratosis
  • actinic keratosis
ovarian cancer
  • ovarian cancer, somatic
granulomatous angiitis
  • vasculitis, central nervous system
- elite association - COSMIC cancer census association via MalaCards
Search KLK8 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for KLK8

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
genes like me logo Genes that share disorders with KLK8: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KLK8 Gene

Publications for KLK8 Gene

  1. A novel form of human neuropsin, a brain-related serine protease, is generated by alternative splicing and is expressed preferentially in human adult brain. (PMID: 10102990) Mitsui S … Yamaguchi N (European journal of biochemistry 1999) 2 3 4 23
  2. Genetic variations of human neuropsin gene and psychiatric disorders: polymorphism screening and possible association with bipolar disorder and cognitive functions. (PMID: 18354391) Izumi A … Kunugi H (Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology 2008) 3 23 41
  3. A human-specific mutation leads to the origin of a novel splice form of neuropsin (KLK8), a gene involved in learning and memory. (PMID: 17487847) Lu ZX … Su B (Human mutation 2007) 3 4 23
  4. The human KLK8 (neuropsin/ovasin) gene: identification of two novel splice variants and its prognostic value in ovarian cancer. (PMID: 11309326) Magklara A … Diamandis EP (Clinical cancer research : an official journal of the American Association for Cancer Research 2001) 3 4 23
  5. Sequence analysis and expression of human neuropsin cDNA and gene. (PMID: 9714609) Yoshida S … Shiosaka S (Gene 1998) 2 3 4

ExternalLinks

View latest publications for KLK8 gene in Mastermind

Products for KLK8 Gene

  • Boster Bio Antibodies for KLK8
  • Boster Bio ELISA Kits for KLK8

Sources for KLK8 Gene