KLK12
protein-codingkallikrein related peptidase 12, the group of Kallikreins
Gene summary
Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Alternate splicing of this gene results in three transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~6.1 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to KLK12 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_001370125.1. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 2 | 2 | 4 | |||
| missense | 44 | 5 | 49 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 2 | 2 | ||||
| Total | 0 | 0 | 46 | 7 | 2 | 55 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001357054.1 | 5 | MANE Select | |
| Ensembl | ENSP00000508282.1 | 5 | MANE Select | |
| RefSeq | NP_001357055.1 | 4 | Standard | |
| RefSeq | NP_001357056.1 | 3 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Keratinization
- Developmental Biology
- Formation of the cornified envelope
Biological Process
- proteolysis
- cornification
Molecular Function
- serine-type endopeptidase activity
- peptidase activity
- serine-type peptidase activity
Cellular Component
- extracellular region
- extracellular space
- secretory granule
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000250351
- Coding exons
- 6
- Length
- 6139
- Individuals with no LoFs
- 25738
- Homozygous LoFs
- 41678
- Heterozygous LoFs
- 58332
- Defined
- 125748
- p
- 0.548
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -0.330 | 168 | 156 | 1.07 | 0.0000107 | 1616 |
| Missense (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 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.37 | 0.36 | notable |
| Latino/Admixed American | 0.60 | 0.60 | notable |
| Ashkenazi Jewish | 0.55 | 0.54 | notable |
| East Asian | 0.66 | 0.66 | notable |
| Finnish | 0.53 | 0.52 | notable |
| European (Non-Finnish) | 0.59 | 0.54 | notable |
| South Asian | 0.62 | 0.61 | notable |
| Other | 0.60 | 0.58 | notable |
dbNSFP Gene Annotations
Source:
Recessive Scores
- pRec
- 0.132
Intolerance Scores
- LoFtool
- 0.130
- RVIS EVS
- -0.03
- RVIS percentile EVS
- 51.92
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.120
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |