KLK11

kallikrein related peptidase 11, the group of Kallikreins|Serine proteases

Basic information

Region (hg38): 19:51022216-51028039

Previous symbols: [ "PRSS20" ]

Links

ENSG00000167757 ∙ NCBI:11012 ∙ OMIM:604434 ∙ HGNC:6359 ∙ Uniprot:Q9UBX7 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Ichthyosis with erythrokeratoderma	AD	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Dermatologic	36689511; 37212630

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the KLK11 gene.

• Inborn_genetic_diseases (31 variants)
• Ichthyosis_with_erythrokeratoderma (2 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KLK11 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001136032.3. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			1			1
missense	2		32	2		36
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1			1
Total	2	0	34	2	0

Highest pathogenic variant AF is 0.0000065700433

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KLK11	protein_coding	protein_coding	ENST00000594768	6	5824

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000754	0.931	125727	0	20	125747	0.0000795

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.677	139	163	0.851	0.00000986	1785
Missense in Polyphen		53	67.676	0.78314		757
Synonymous	-0.804	75	66.6	1.13	0.00000423	560
Loss of Function	1.62	7	13.4	0.523	8.07e-7	137

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000294	0.0000294
Ashkenazi Jewish	0.000102	0.0000992
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.000115	0.000114
Middle Eastern	0.00	0.00
South Asian	0.000169	0.000163
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Possible multifunctional protease. Efficiently cleaves 'bz-Phe-Arg-4-methylcoumaryl-7-amide', a kallikrein substrate, and weakly cleaves other substrates for kallikrein and trypsin. Cleaves synthetic peptides after arginine but not lysine residues. {ECO:0000269|PubMed:10872828, ECO:0000269|PubMed:16467084}.

Intolerance Scores

• loftool: 0.0579
• rvis_EVS: 0.89
• rvis_percentile_EVS: 89.14

Haploinsufficiency Scores

• pHI: 0.0862
• hipred: N
• hipred_score: 0.234
• ghis: 0.420

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.124

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Klk11

Gene ontology

• Biological process: proteolysis
• Cellular component: extracellular space;Golgi apparatus;secretory granule;extracellular exosome
• Molecular function: serine-type endopeptidase activity;serine-type peptidase activity