KLK12 kallikrein related peptidase 12 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KLK12provided by HGNC
Official Full Name: kallikrein related peptidase 12provided by HGNC
Primary source: HGNC:HGNC:6360
See related: Ensembl:ENSG00000186474 MIM:605539; AllianceGenome:HGNC:6360
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: KLKL5; KLK-L5
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]
Expression: Biased expression in esophagus (RPKM 4.6), salivary gland (RPKM 1.0) and 4 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.41

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (51029094..51035002, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (54117609..54123558, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (51532350..51538258, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Prognostic value of kallikrein-related peptidase 12 (KLK12) mRNA expression in triple-negative breast cancer patients.
Title: Prognostic value of kallikrein-related peptidase 12 (KLK12) mRNA expression in triple-negative breast cancer patients.
KLK12 was overexpressed in colorectal cancer.
Title: Knockdown of KLK12 inhibits viability and induces apoptosis in human colorectal cancer HT-29 cell line.
novel KLK11 and KLK12 splice variants represent new potential cancer biomarkers
Title: Novel splice variants of the human kallikrein-related peptidases 11 (KLK11) and 12 (KLK12), unraveled by next-generation sequencing technology.
results demonstrate the discriminative value of KLK12sv1/2 and KLK12sv3 between benign and malignant breast tumors as well as their potential favorable prognostic significance in breast adenocarcinoma.
Title: Human kallikrein-related peptidase 12 (KLK12) splice variants discriminate benign from cancerous breast tumors.
KLK12 gene silencing reduces gastric cancer cell proliferation and migration.
Title: Kallikrein 12 downregulation reduces AGS gastric cancer cell proliferation and migration.
Data indicate that the KLK12 SNP rs3865443 was not associated with tumor aggressiveness but showed marginal association with prostate cancer risk for the rare homozygote.
Title: Common variation in Kallikrein genes KLK5, KLK6, KLK12, and KLK13 and risk of prostate cancer and tumor aggressiveness.
KLK12 gene is markedly overexpressed in gastric cancer
Title: Clinical significance of human kallikrein 12 gene expression in gastric cancer.
Kallikrein 5 and kallikrein 12 cleave human influenza hemagglutinins and activate thrombolytic zymogens.
Title: Cleavage activation of human-adapted influenza virus subtypes by kallikrein-related peptidases 5 and 12.
the proangiogenic activity of KLK12 in lung endothelial cells was not related to a kinin release
Title: Pro-angiogenic effect of human kallikrein-related peptidase 12 (KLK12) in lung endothelial cells does not depend on kinin-mediated activation of B2 receptor.
Results suggest that kallikrein-related peptidase 12 (KLK12) splice variant KLK12sv3 can be regarded as a marker of good prognosis in breast cancer.
Title: Human kallikrein-related peptidase 12 (KLK12) splice variants expression in breast cancer and their clinical impact.

Submit: New GeneRIF Correction See all GeneRIFs (15)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2021-02-02) ClinGen Genome Curation Page Haploinsufficency Dosage sensitivity unlikely (Last evaluated 2021-02-02) ClinGen Genome Curation PagePubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of kallikrein-related peptidase 12 (KLK12) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

KLK12_8032 (e-PCR)
- UniSTS:467740

NoName (e-PCR)
- UniSTS:490463

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables peptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables serine-type endopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables serine-type endopeptidase activity	NAS Non-traceable Author Statement more info	PubMed
enables serine-type peptidase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in protein maturation	IBA Inferred from Biological aspect of Ancestor more info
involved_in proteolysis	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	NAS Non-traceable Author Statement more info	PubMed
is_active_in secretory granule	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: kallikrein-12

Names: kallikrein-like protein 5

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001370125.1 → NP_001357054.1 kallikrein-12 isoform 2 precursor

Status: REVIEWED

Source sequence(s)

AC011473

Consensus CDS

CCDS12821.1

UniProtKB/Swiss-Prot

Q9UKR0, Q9UKR1, Q9UKR2

UniProtKB/TrEMBL

A0A024R4M4

Related

ENSP00000508282.1, ENST00000684732.1

Conserved Domains (1) summary

cd00190
Location:22 → 244

Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
NM_001370126.1 → NP_001357055.1 kallikrein-12 isoform 4

Status: REVIEWED

Source sequence(s)

AC011473

UniProtKB/TrEMBL

A8MQ31, Q49AM7

Conserved Domains (1) summary

cl27237
Location:37 → 126

Trypsin
NM_001370127.1 → NP_001357056.1 kallikrein-12 isoform 3

Status: REVIEWED

Source sequence(s)

AC011473

Consensus CDS

CCDS54298.1

UniProtKB/TrEMBL

B9EGA9

Conserved Domains (1) summary

smart00020
Location:37 → 131

Tryp_SPc; Trypsin-like serine protease
NM_001370128.1 → NP_001357057.1 kallikrein-12 isoform 3

Status: REVIEWED

Source sequence(s)

AC011473

Consensus CDS

CCDS54298.1

UniProtKB/TrEMBL

B9EGA9

Conserved Domains (1) summary

smart00020
Location:37 → 131

Tryp_SPc; Trypsin-like serine protease
NM_019598.3 → NP_062544.1 kallikrein-12 isoform 1 precursor

See identical proteins and their annotated locations for NP_062544.1

Status: REVIEWED

Source sequence(s)

AC011473

Consensus CDS

CCDS12820.1

UniProtKB/Swiss-Prot

Q9UKR0

Related

ENSP00000250351.4, ENST00000250351.4

Conserved Domains (2) summary

smart00020
Location:21 → 236

Tryp_SPc; Trypsin-like serine protease

cd00190
Location:22 → 236

Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
NM_145894.2 → NP_665901.1 kallikrein-12 isoform 2 precursor

See identical proteins and their annotated locations for NP_665901.1

Status: REVIEWED

Source sequence(s)

AC011473

Consensus CDS

CCDS12821.1

UniProtKB/Swiss-Prot

Q9UKR0, Q9UKR1, Q9UKR2

UniProtKB/TrEMBL

A0A024R4M4

Related

ENSP00000324181.4, ENST00000319590.8

Conserved Domains (1) summary

cd00190
Location:22 → 244

Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
NM_145895.2 → NP_665902.2 kallikrein-12 isoform 3

Status: REVIEWED

Source sequence(s)

AC011473

Consensus CDS

CCDS54298.1

UniProtKB/TrEMBL

B9EGA9

Conserved Domains (1) summary

smart00020
Location:37 → 131

Tryp_SPc; Trypsin-like serine protease