KLK7

kallikrein related peptidase 7, the group of Serine proteases|Kallikreins

Basic information

Region (hg38): 19:50976468-50984099

Previous symbols: [ "PRSS6" ]

Links

ENSG00000169035

∙ NCBI:5650 ∙ OMIM:604438 ∙ HGNC:6368 ∙ Uniprot:P49862 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the KLK7 gene.

not_specified (44 variants)
not_provided (5 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KLK7 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000005046.4. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous					3 clinvar	3
missense			44 clinvar		1 clinvar	45
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	44	0	4

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KLK7	protein_coding	protein_coding	ENST00000391807	5	7627

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000647	0.751	125706	0	12	125718	0.0000477

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0322	151	150	1.01	0.00000851	1619
Missense in Polyphen		42	56.113	0.74849		623
Synonymous	-0.779	72	64.1	1.12	0.00000402	508
Loss of Function	0.961	6	9.14	0.657	3.89e-7	111

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000132	0.000119
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000428	0.0000352
Middle Eastern	0.0000544	0.0000544
South Asian	0.000108	0.0000980
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

Function: 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. {ECO:0000269|PubMed:23370777}.;
Pathway: Extracellular matrix organization;Degradation of the extracellular matrix (Consensus)

Recessive Scores

pRec: 0.152

Intolerance Scores

loftool: 0.105
rvis_EVS: -0.51
rvis_percentile_EVS: 21.41

Haploinsufficiency Scores

pHI: 0.129
hipred: N
hipred_score: 0.180
ghis: 0.561

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.849

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

Gene name: Klk7
Phenotype: homeostasis/metabolism phenotype; normal phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan);

Gene ontology

Biological process: positive regulation of antibacterial peptide production;proteolysis;epidermis development;extracellular matrix disassembly
Cellular component: extracellular region;extracellular space;secretory granule;epidermal lamellar body
Molecular function: metalloendopeptidase activity;serine-type endopeptidase activity;peptidase activity;serine-type peptidase activity