KLK12

kallikrein related peptidase 12, the group of Kallikreins

Basic information

Region (hg38): 19:51029092-51035230

Links

ENSG00000186474 ∙ NCBI:43849 ∙ OMIM:605539 ∙ HGNC:6360 ∙ Uniprot:Q9UKR0 ∙ 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 KLK12 gene.

• not_specified (47 variants)
• not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KLK12 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001370125.1. 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	2	3
missense			41	5		46
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	41	6	2

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KLK12	protein_coding	protein_coding	ENST00000250351	6	6139

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000317	0.583	25738	41678	58332	125748	0.548

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.330	168	156	1.07	0.0000107	1616
Missense in Polyphen		68	57.027	1.1924		646
Synonymous	0.173	67	68.8	0.973	0.00000524	536
Loss of Function	0.731	8	10.6	0.757	4.62e-7	112

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.976	0.960
Ashkenazi Jewish	0.551	0.535
East Asian	0.660	0.662
Finnish	0.531	0.519
European (Non-Finnish)	0.589	0.539
Middle Eastern	0.660	0.662
South Asian	0.620	0.613
Other	0.597	0.579

dbNSFP

Source: dbNSFP

• Pathway: Keratinization;Developmental Biology;Formation of the cornified envelope (Consensus)

Recessive Scores

• pRec: 0.132

Intolerance Scores

• loftool: 0.130
• rvis_EVS: -0.03
• rvis_percentile_EVS: 51.92

Haploinsufficiency Scores

• pHI: 0.0506
• hipred: N
• hipred_score: 0.146

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.120

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Klk12

Gene ontology

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