KLK14

kallikrein related peptidase 14, the group of Kallikreins

Basic information

Region (hg38): 19:51077495-51084245

Links

ENSG00000129437 ∙ NCBI:43847 ∙ OMIM:606135 ∙ HGNC:6362 ∙ Uniprot:Q9P0G3 ∙ 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 KLK14 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KLK14 gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			9	2		11
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)			1	1		2
splice region				1		1
non coding			1			1
Total	0	0	11	3	0

Variants in KLK14

This is a list of pathogenic ClinVar variants found in the KLK14 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
19-51078033-T-C		not specified	Uncertain significance (Jun 17, 2024)
19-51078111-C-T		Male infertility	Uncertain significance (-)
19-51078841-G-A		not specified	Uncertain significance (Sep 01, 2021)
19-51078853-A-G		not specified	Uncertain significance (Dec 13, 2022)
19-51078856-C-T		not specified	Uncertain significance (Jan 19, 2024)
19-51078898-C-T		not specified	Uncertain significance (Nov 25, 2024)
19-51078909-G-A			Likely benign (Jan 19, 2018)
19-51079484-C-G		not specified	Uncertain significance (Aug 04, 2021)
19-51079619-G-A		not specified	Uncertain significance (Feb 06, 2023)
19-51079629-G-A		not specified	Uncertain significance (Apr 15, 2024)
19-51079661-C-G		not specified	Uncertain significance (May 12, 2024)
19-51079680-T-C		not specified	Uncertain significance (Apr 25, 2022)
19-51081536-G-A		not specified	Uncertain significance (Aug 09, 2021)
19-51081568-C-A		not specified	Uncertain significance (Jul 05, 2024)
19-51081599-G-A		not specified	Uncertain significance (Mar 01, 2023)
19-51081625-G-A		not specified	Likely benign (Jan 22, 2024)
19-51081647-G-A		not specified	Uncertain significance (Mar 20, 2024)
19-51082573-A-G			Uncertain significance (Oct 21, 2022)
19-51082586-A-G		not specified	Uncertain significance (Jan 23, 2024)
19-51082619-G-A		not specified	Uncertain significance (Sep 25, 2023)
19-51082640-T-A			Likely benign (Jan 19, 2018)
19-51082721-C-T			Likely benign (Jan 01, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KLK14	protein_coding	protein_coding	ENST00000391802	6	6751

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.00e-8	0.141	121314	55	3428	124797	0.0141

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.385	150	164	0.915	0.0000101	1681
Missense in Polyphen		51	56.105	0.909		626
Synonymous	1.22	58	71.1	0.816	0.00000483	554
Loss of Function	0.0801	12	12.3	0.975	6.81e-7	119

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0141	0.0140
Ashkenazi Jewish	0.00228	0.00229
East Asian	0.000111	0.000111
Finnish	0.00803	0.00796
European (Non-Finnish)	0.0165	0.0164
Middle Eastern	0.000111	0.000111
South Asian	0.0333	0.0328
Other	0.0107	0.0106

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Serine-type endopeptidase with a dual trypsin-like and chymotrypsin-like substrate specificity. May activate/inactivate the proteinase-activated receptors F2R, F2RL1 and F2RL3 and other kallikreins including KLK1, KLK3, KLK5 and KLK11. May function in seminal clot liquefaction through direct cleavage of the semenogelin SEMG1 and SEMG2 and activation of KLK3. May function through desmoglein DSG1 cleavage in epidermal desquamation a process by which the most superficial corneocytes are shed from the skin surface. May be involved in several aspects of tumor progression including growth, invasion and angiogenesis. {ECO:0000269|PubMed:15654974, ECO:0000269|PubMed:16885167, ECO:0000269|PubMed:17158887, ECO:0000269|PubMed:17625593, ECO:0000269|PubMed:18056261, ECO:0000269|PubMed:18482984}.
• Pathway: Keratinization;Developmental Biology;Formation of the cornified envelope (Consensus)

Intolerance Scores

• loftool: 0.343
• rvis_EVS: 2.64
• rvis_percentile_EVS: 98.81

Haploinsufficiency Scores

• pHI: 0.0508
• hipred: N
• hipred_score: 0.146

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0664

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Klk14
• Phenotype: behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); 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); homeostasis/metabolism phenotype

Gene ontology

• Biological process: proteolysis;fertilization;negative regulation of G protein-coupled receptor signaling pathway;positive regulation of G protein-coupled receptor signaling pathway;epidermis morphogenesis;cornification;seminal clot liquefaction
• Cellular component: extracellular region;extracellular space;secretory granule
• Molecular function: serine-type endopeptidase activity