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KLK7 Gene

protein-coding GIFtS: 63
GCID: GC19M051479

Kallikrein-Related Peptidase 7

(Previous names: kallikrein 7 (chymotryptic, stratum corneum))
(Previous symbol: PRSS6)

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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Aliases
Kallikrein-Related Peptidase 7¹ ²		kallikrein-7²
PRSS6¹ ² ³ ⁵		Signal Protein²
SCCE² ³ ⁵		EC 3.4.21.117³
Kallikrein 7 (Chymotryptic, Stratum Corneum)¹ ²		hSCCE³
Serine Protease 6² ³		LKL7⁵
Stratum Corneum Chymotryptic Enzyme² ³		EC 3.4.21⁸
hK7² ³

External Ids:	HGNC: 6368¹	Entrez Gene: 5650²	Ensembl: ENSG00000169035⁷	OMIM: 604438⁵	UniProtKB: P49862³

Export aliases for KLK7 gene to outside databases

Previous GC identifers: GC19M052110 GC19M051841 GC19M056155 GC19M056171 GC19M047813

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for KLK7 Gene:

This gene encodes a member of the kallikrein subfamily of serine proteases. These enzymes have diverse

physiological functions and many kallikrein genes are biomarkers for cancer. The encoded protein has

chymotrypsin-like activity and plays a role in the proteolysis of intercellular cohesive structures that precedes

desquamation, the shedding of the outermost layer of the epidermis. The encoded protein may play a role in cancer

invasion and metastasis, and increased expression of this gene is associated with unfavorable prognosis and

progression of several types of cancer. Polymorphisms in this gene may play a role in the development of atopic

dermatitis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this

gene, which is one of fifteen kallikrein subfamily members located in a gene cluster on chromosome 19. (provided

by RefSeq, May 2011)

GeneCards Summary for KLK7 Gene:

KLK7 (kallikrein-related peptidase 7) is a protein-coding gene. Diseases associated with KLK7 include atopic dermatitis, and endocervicitis. 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: KLK7_HUMAN, P49862

Function: May catalyze the degradation of intercellular cohesive structures in the cornified layer of the skin in

the continuous shedding of cells from the skin surface. Specific for amino acid residues with aromatic side

chains in the P1 position. Cleaves insulin A chain at '14-Tyr- -Gln-15' and insulin B chain at '6-Leu- -Cys-7',

'16-Tyr- -Leu-17', '25-Phe- -Tyr-26' and '26-Tyr- -Thr-27'. Could play a role in the activation of precursors to

inflammatory cytokines

Gene Wiki entry for KLK7 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:

NC_000019.10 NC_018930.2 NT_011109.17

Regulatory elements:

Regulatory transcription factor binding sites in the KLK7 gene promoter:
MZF-1 MEF-2A HEN1 aMEF-2 Zic3
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: KLK7 promoter sequence

Search Chromatin IP Primers for KLK7

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KLK7

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: 19q13.33

KLK7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KLK7 gene location

GeneLoc information about chromosome 19 GeneLoc Exon Structure

GeneLoc location for GC19M051479: view genomic region (about GC identifiers)

Start:	51,479,729 bp from pter	End:	51,487,355 bp from pter
Size:	7,627 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: KLK7_HUMAN, P49862 (See protein sequence)

Recommended Name: Kallikrein-7 precursor

Size: 253 amino acids; 27525 Da

5 PDB 3D structures from and Proteopedia for KLK7:

2QXG (3D)

2QXH (3D)

2QXI (3D)

2QXJ (3D)

3BSQ (3D)

Secondary accessions: A8K0U5 Q8N5N9 Q8NFV7

Alternative splicing: 2 isoforms: P49862-1 P49862-2

Explore the universe of human proteins at neXtProt for KLK7: NX_P49862

Explore proteomics data for KLK7 at MOPED

Post-translational modifications:

Glycosylation² at Asn246

Modification sites at PhosphoSitePlus

Selected DME Specific Peptides for KLK7 (P49862) (see all 5)

GDSGGPL

VLTAAHC

SGGPLVC

WVLTAAH

See KLK7 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (4 alternative transcripts):

NP_001230055.1 NP_001193982.1 NP_005037.1 NP_644806.1

ENSEMBL proteins:

ENSP00000304791 ENSP00000470538 ENSP00000469950 ENSP00000470084 ENSP00000375683

ENSP00000337540

Reactome Protein details: P49862

KLK7 Human Recombinant Protein Products:

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KLK7 Assay Products:

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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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 P49862

ProtoNet protein and cluster: P49862

2 Blocks protein domains:

IPB001254 Serine protease

IPB001314 Chymotrypsin serine protease family (S1) signature

UniProtKB/Swiss-Prot: KLK7_HUMAN, P49862

Similarity: Belongs to the peptidase S1 family. Kallikrein subfamily

Similarity: Contains 1 peptidase S1 domain

KLK7 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,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

UniProtKB/Swiss-Prot Summary: KLK7_HUMAN, P49862

Function: May catalyze the degradation of intercellular cohesive structures in the cornified layer of the skin in

the continuous shedding of cells from the skin surface. Specific for amino acid residues with aromatic side

chains in the P1 position. Cleaves insulin A chain at '14-Tyr- -Gln-15' and insulin B chain at '6-Leu- -Cys-7',

'16-Tyr- -Leu-17', '25-Phe- -Tyr-26' and '26-Tyr- -Thr-27'. Could play a role in the activation of precursors to

inflammatory cytokines

Catalytic activity: Cleavage of proteins with aromatic side chains in the P1 position

Enzyme regulation: Inhibited by Zn2+ and Cu2+ at low micromolar concentrations. Inhibited by SERPINA12

Induction: By estrogens and glucocorticoids in a breast carcinoma cell line

Enzyme Numbers (IUBMB): EC 3.4.21² EC 3.4.21.117¹

Gene Ontology (GO): 3 molecular function terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003824	catalytic activity	--	--
GO:0004252	serine-type endopeptidase activity	IEA	--
GO:0008236	serine-type peptidase activity	TAS	8034709

KLK7 for ontologies About GeneDecksing

Animal Models:

inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for KLK7

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genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for KLK7

genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for KLK7

miRNA Products:		miRTarBase miRNAs that target KLK7: hsa-mir-335-5p (MIRT018481)

		Block miRNA regulation of human, mouse, rat KLK7 using miScript Target Protectors
		3 qRT-PCR Assays for microRNAs that regulate KLK7:
		hsa-miR-3915 hsa-miR-512-3p hsa-miR-509-3p
		SwitchGear 3'UTR luciferase reporter plasmid: KLK7 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for KLK7
		Predesigned siRNA for gene silencing in human, mouse, rat KLK7

Gene Editing
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DNA2.0 Custom Protein Engineering Service for KLK7

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		GenScript: all cDNA clones in your preferred vector (see all 2): KLK7 (NM_005046)
		Sino Biological Human cDNA Clone for KLK7
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KLK7

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot

KLK7_HUMAN, P49862: Secreted. Note=In ovarian carcinoma, secreted and also observed at the apical membrane and

in cytoplasm at the invasive front

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
extracellular	5
cytoskeleton	1
nucleus	1

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Gene Ontology (GO): 2 cellular component terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	TAS	--
GO:0097209	epidermal lamellar body	IDA	15675955

KLK7 for ontologies About GeneDecksing

(SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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SuperPaths for KLK7 About

See pathways by source

SuperPath

Contained pathways About

Collagen biosynthesis and modifying enzymes

Intrinsic Prothrombin Activation Pathway

0.39

Blood Coagulation Cascade

0.38

Degradation of the extracellular matrix

Degradation of the extracellular matrix

0.43

Extracellular matrix organization

0.34

MSP-RON Signaling

MSP-RON Signaling

Pathways by source See SuperPaths
Show all pathways

3 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for KLK7

	MSP-RON Signaling
	Blood Coagulation Cascade
	Intrinsic Prothrombin Activation Pathway

1 Reactome Pathway for KLK7

Degradation of the extracellular matrix

KLK7 for pathways About GeneDecksing

Custom Pathway & Disease-focused RT² Profiler PCR Arrays for KLK7
Interactions:

GeneGlobe Interaction Network for KLK7

STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

Selected Interacting proteins for KLK7 (P49862³ ENSP00000304791⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 7)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CDSN	Q15517³, ENSP00000365465⁴	I2D: score=1 STRING: ENSP00000365465
ENSG00000137197	Q15517³	I2D: score=1
ENSG00000237114	Q15517³	I2D: score=1
ENSG00000237123	Q15517³	I2D: score=1
ENSG00000237165	Q15517³	I2D: score=1

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Gene Ontology (GO): 4 biological process terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006508	proteolysis	--	--
GO:0008544	epidermis development	TAS	8034709
GO:0022617	extracellular matrix disassembly	TAS	--
GO:0030198	extracellular matrix organization	TAS	--

KLK7 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for KLK7

1 DrugBank Compound for KLK7 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
L-alanyl-N-[(1S,2R)-1-benzyl-2-hydroxypropyl]-L-alaninamide	--	--	target	--	10592235

4 Novoseek inferred chemical compound relationships for KLK7 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
serine	75.2	48	7794273 (2), 8393902 (1), 7537777 (1), 11906548 (1) (see all 28)
retinoic acid	16.1	6	8105613 (3)
lipid	0	3	16117792 (1)
calcium	0	3	10616036 (1), 9665394 (1), 20090765 (1)

KLK7 for compounds About GeneDecksing

(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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for KLK7 gene (4 alternative transcripts):

NM_001243126.1 NM_001207053.1 NM_005046.3 NM_139277.2

Unigene Cluster for KLK7:

Kallikrein-related peptidase 7

Hs.151254 [show with all ESTs]

Unigene Representative Sequence: NM_005046

7 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000304045(uc002pup.3 uc021uyj.1 uc010eok.3) ENST00000595820

ENST00000597707 ENST00000593904 ENST00000595638 ENST00000391807(uc002puo.3)

ENST00000336317

miRNA Products:		Block miRNA regulation of human, mouse, rat KLK7 using miScript Target Protectors
		3 qRT-PCR Assays for microRNAs that regulate KLK7:
		hsa-miR-3915 hsa-miR-512-3p hsa-miR-509-3p
		SwitchGear 3'UTR luciferase reporter plasmid: KLK7 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for KLK7
		Predesigned siRNA for gene silencing in human, mouse, rat KLK7

Clone Products:		OriGene clones in human, mouse for KLK7 (see all 13) OriGene ORF clones in mouse, rat for KLK7 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): KLK7 (NM_005046)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for KLK7
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KLK7

Primer Products:		OriGene qPCR primer pairs and template standards for KLK7 OriGene qSTAR qPCR primer pairs in human, mouse for KLK7
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat KLK7
		QuantiTect SYBR Green Assays in human, mouse, rat KLK7
		QuantiFast Probe-based Assays in human, mouse, rat KLK7

Additional mRNA sequence:

AF411214.1 AF411215.1 AK289660.1 AK295313.1 AY601109.1 AY646152.1 BC032005.1 DQ018784.1

L33404.1

6 DOTS entries:

DT.97773710 DT.95100020 DT.443601 DT.100020915 DT.121475426 DT.95111488

Selected AceView cDNA sequences (see all 61):

AY646152 AF411214 AU105241 NM_005046 AA291764 AF411215 AA425991 AI049783

NM_139277 BM844044 BX103970 AI819857 BM798830 BM762588 AU134435 BM751385

BM828103 AW134828 BM839537 BM980496 BM828148 BM752290 BM785808 BM761132

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for KLK7 About this scheme

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

ECgene alternative splicing isoforms for KLK7

(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™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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KLK7 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: --

About this image

KLK7 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 2) fully expand


Eye (Sensory Organs) fully expand to see all 2 entries
Limbal epithelial stem cells (family)

Lung (Respiratory System)
Basal Cells Respiratory Bronchioles

KLK7 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

KLK7 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.151254

UniProtKB/Swiss-Prot: KLK7_HUMAN, P49862

Tissue specificity: Abundantly expressed in the skin and is expressed by keratinocytes in the epidermis. Also

expressed in the brain, mammary gland, cerebellum, spinal cord and kidney. Lower levels in salivary glands,

uterus, thymus, thyroid, placenta, trachea and testis. Up-regulated in ovarian carcinoma, especially late-stage

serous carcinoma, compared with normal ovaries and benign adenomas (at protein level)

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		QuantiFast Probe-based Assays in human, mouse, rat KLK7

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KLK7

(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)
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This gene was present in the common ancestor of human and mouse.

Orthologs for KLK7 gene from Selected species (see all 7) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Klk7^{1 , 5}	kallikrein related-peptidase 7 (chymotryptic, stratum more^{1, 5}	78.16(n)¹ 75.86(a)¹		7 (28.27 cM)⁵ 23993¹ NM_011872.2¹ NP_036002.1¹ 43811444⁵

ENSEMBL Gene Tree for KLK7 (if available)
TreeFam Gene Tree for KLK7 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for KLK7 gene

KLK10² ENSG00000269741² KLK1² KLK4² PRSS37² KLK11² KLK14² KLK9²

KLK12² KLK13² KLK6² KLK2² KLK15² KLK5² PRSS1² PRSS58²

PRSS3² KLK8² KLK3²

Selected SIMAP similar genes for KLK7 using alignment to 3 protein entries: KLK7_HUMAN (see all proteins) (see all similar genes):

KLK14 KLK8 KLK4 KLK1 KLK5 KLK2

KLK9 KLK6 PRSS1 APS KLK13 PRSS3

TRY8 KLK10 PRSS2 KLK12 KLK11 KLK3

KLK7 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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SNP ID	Valid	Clinical significance	Chr 19 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs117302438^1,2	C,F	--	51479314(+)	`CTACCC/TGCTTC`	4	--	ds500¹ int¹		1		EA	120
rs113216294^1,2	C,F	--	51479368(+)	`TCTTCC/TTCCGG`	4	--	ds500¹ int¹		2		CSA	4
rs11084043^1,2	C,F,A,H	--	51479402(+)	`ACCCCC/TGTGGG`	4	--	ds500¹ int¹		20		NS EA NA CSA WA	2342
rs192764525^1,2		--	51479452(+)	`AAACCA/GCCAGC`	4	--	ds500¹ int¹		0	--	--	--	--
rs146239764^1,2		--	51479649(+)	`GGGCCA/GGCAGG`	4	--	ds500¹ int¹		0	--	--	--	--
rs184428524^1,2		--	51479701(+)	`CTTCCC/TGAAAG`	4	--	ds500¹ int¹		0	--	--	--	--
rs57392237^1,2	C,F	--	51479722(+)	`TCCAAT/CCTTAG`	4	--	ds500¹ int¹		5		WA CSA NA	243
rs139329452^1,2		--	51479749(+)	`CCCCAC/TCTTTA`	4	--	ut3¹		0	--	--	--	--
rs115353923^1,2	C,F	--	51479781(+)	`ACATTC/TAAGGA`	4	--	ut3¹		1		WA	118
rs268883^1,2	C,F,A	--	51480103(+)	`GACCAT/CGCTGG`	4	--	ut3¹ ese³		12		EA NA WA CSA	71

HapMap Linkage Disequilibrium report for KLK7 (51479729 - 51487355 bp)

Structural Variations
Database of Genomic Variants (DGV) 5 variations for KLK7: About this table

Variant ID	Type	Subtype	PubMed ID
esv2718763	CNV	Deletion	23290073
esv2718761	CNV	Deletion	23290073
esv2718760	CNV	Deletion	23290073
nsv513532	CNV	Insertion	21212237
esv1738203	OTHER	Inversion	17803354

Human Gene Mutation Database (HGMD): KLK7

Site Specific Mutation Identification with PCR Assays

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(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.)
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OMIM gene information: 604438 OMIM disorders: --

Selected diseases for KLK7 (see all 32):
About MalaCards

atopic dermatitis endocervicitis dermatitis netherton syndrome

skin disease cervical adenocarcinoma pancreatic ductal adenocarcinoma frontotemporal dementia

psoriasis ovarian cancer oral squamous cell carcinoma childhood leukemia

dementia cervicitis esophageal cancer meningioma

bronchiolitis adenocarcinoma cervical cancer pancreatitis

3 diseases from the University of Copenhagen DISEASES database for KLK7:

Netherton syndrome Atopic dermatitis Carcinoma

KLK7 for disorders About GeneDecksing

Congresses - knowledge worth sharing:
Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

Selected Novoseek inferred disease relationships for KLK7 gene (see all 16) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
netherton syndrome	69.2	2	15679120 (1), 12834483 (1)
skin diseases	52	4	14609096 (2), 11874483 (1)
hyperkeratosis	49.4	2	14609096 (1), 15040472 (1)
dermatitis atopic	45.9	7	17989887 (3), 15191543 (3), 11874483 (1)
ovarian cancer	35.4	11	16916986 (3), 11906548 (1), 12738725 (1), 14764643 (1) (see all 5)
psoriasis	31	5	10335915 (3), 11874483 (1)
ovarian carcinoma	17.3	3	11906548 (1)
adenocarcinoma	9.67	4	17354228 (1), 19091121 (1), 15297163 (1), 15766562 (1)
carcinoma	5.68	4	10570434 (3), 12738725 (1)
breast carcinoma	5.42	1	14691584 (1)

Genetic Association Database (GAD): KLK7
Human Genome Epidemiology (HuGE) Navigator: KLK7 (8 documents)

Export disorders for KLK7 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)
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PubMed articles for KLK7 gene, integrated from 10 sources (see all 112):
(articles sorted by number of sources associating them with KLK7)

Utopia: connect your pdf to the dynamic
world of online information

Cloning, expression, and characterization of stratum corneum chymotryptic enzyme. A skin-specific human serine proteinase. (PubMed id 8034709)^{1, 2, 3, 9} Hansson L....Egelrud T. (J. Biol. Chem. 1994)
The KLK7 (PRSS6) gene, encoding for the stratum corneum chymotryptic enzyme is a new member of the human kallikrein gene family -- genomic characterization, mapping, tissue expression and hormonal regulation. (PubMed id 10974542)^{1, 2, 9} Yousef G.M....Diamandis E.P. (Gene 2000)
Genetic association between an AACC insertion in the 3'UTR of the stratum corneum chymotryptic enzyme gene and atopic dermatitis. (PubMed id 15191543)^{1, 4, 9} Vasilopoulos Y....Tazi-Ahnini R. (J. Invest. Dermatol. 2004)
Differential splicing of KLK5 and KLK7 in epithelial ovarian cancer produces novel variants with potential as cancer biomarkers. (PubMed id 12738725)^{1, 2, 9} Dong Y.... Clements J.A. (Clin. Cancer Res. 2003)
Analysis of SPINK 5, KLK 7 and FLG genotypes in a French atopic dermatitis cohort. (PubMed id 17989887)^{1, 4, 9} Hubiche T....Boralevi F. (Acta Derm. Venereol. 2007)
Primary substrate specificity of recombinant human stratum corneum chymotryptic enzyme. (PubMed id 7794273)^{1, 2, 9} Skytt A.... Egelrud T. (Biochem. Biophys. Res. Commun. 1995)
Blood biomarker levels to aid discovery of cancer-related single-nucleotide polymorphisms: kallikreins and prostate cancer. (PubMed id 20424135)^{1, 4} Klein R.J....Lilja H. (Cancer Prev Res (Phila) 2010)
Risk of meningioma and common variation in genes related to innate immunity. (PubMed id 20406964)^{1, 4} Rajaraman P....Inskip P.D. (amp 2010)
Polymorphisms in innate immunity genes and risk of childhood leukemia. (PubMed id 20438785)^{1, 4} Han S....Kang D. (Hum. Immunol. 2010)
Crystal structure of human epidermal kallikrein 7 (hK7) synthesized directly in its native state in E. coli: insights into the atomic basis of its inhibition by LEKTI domain 6 (LD6). (PubMed id 18329042)^{1, 2} Fernandez I.S.... Romero A. (J. Mol. Biol. 2008)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 5650	HGNC: 6368	AceView: KLK7	Ensembl:ENSG00000169035	euGenes: HUgn5650
ECgene: KLK7	H-InvDB: KLK7

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for KLK7	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for KLK7	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for KLK7 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for KLK7 gene:
Search GeneIP for patents involving KLK7

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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KLK7 Gene

Kallikrein-Related Peptidase 7

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KLK7 Gene

Kallikrein-Related Peptidase 7

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