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KLK2 kallikrein related peptidase 2 [ Homo sapiens (human) ]

Gene ID: 3817, updated on 13-Feb-2019

Summary

Official Symbol
KLK2provided by HGNC
Official Full Name
kallikrein related peptidase 2provided by HGNC
Primary source
HGNC:HGNC:6363
See related
Ensembl:ENSG00000167751 MIM:147960
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
hK2; hGK-1; KLK2A2
Summary
This gene encodes a member of the grandular kallikrein protein family. Kallikreins are a subgroup of serine proteases that are clustered on chromosome 19. Members of this family are involved in a diverse array of biological functions. The protein encoded by this gene is a highly active trypsin-like serine protease that selectively cleaves at arginine residues. This protein is primarily expressed in prostatic tissue and is responsible for cleaving pro-prostate-specific antigen into its enzymatically active form. This gene is highly expressed in prostate tumor cells and may be a prognostic maker for prostate cancer risk. Alternate splicing results in both coding and non-coding transcript variants. [provided by RefSeq, Jan 2012]
Expression
Restricted expression toward prostate (RPKM 1047.4) See more
Orthologs

Genomic context

See KLK2 in Genome Data Viewer
Location:
19q13.33
Exon count:
5
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 19 NC_000019.10 (50873433..50880567)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (51376689..51383823)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene KLK3 upstream enhancer/promoter region Neighboring gene kallikrein related peptidase 3 Neighboring gene KLK2 upstream enhancer/promoter region Neighboring gene origin of replication 20mer2 Neighboring gene kallikrein pseudogene 1 Neighboring gene kallikrein related peptidase 4

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease.
NHGRI GWA Catalog
Genome-wide association study identifies genetic determinants of urine PCA3 levels in men.
NHGRI GWA Catalog
Genome-wide association study identifies loci at ATF7IP and KLK2 associated with percentage of circulating free PSA.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ17010, FLJ17011, MGC12201

Gene Ontology Provided by GOA

Function Evidence Code Pubs
serine-type endopeptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
extracellular matrix disassembly TAS
Traceable Author Statement
more info
 
regulation of systemic arterial blood pressure IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
zymogen activation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
extracellular exosome HDA PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
secretory granule IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
kallikrein-2
Names
glandular kallikrein 2
glandular kallikrein-1
kallikrein 2, prostatic
tissue kallikrein-2
NP_001002231.1
NP_001243009.1
NP_005542.1

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_031984.1 RefSeqGene

    Range
    5001..12135
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001002231.2NP_001002231.1  kallikrein-2 isoform 2 preproprotein

    See identical proteins and their annotated locations for NP_001002231.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. It encodes isoform 2, which has a shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC037199, AF188745, AF188747, AK300527
    Consensus CDS
    CCDS42597.1
    UniProtKB/Swiss-Prot
    P20151
    UniProtKB/TrEMBL
    A0A024R4N3, B4DU77
    Related
    ENSP00000350748.3, ENST00000358049.8
    Conserved Domains (2) summary
    smart00020
    Location:24209
    Tryp_SPc; Trypsin-like serine protease
    cd00190
    Location:25209
    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 ...
  2. NM_001256080.1NP_001243009.1  kallikrein-2 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains a distinct 5' UTR and lacks an in-frame portion of the 5' coding region, compared to variant 1. The resulting isoform (3) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AC037199, AF188745, AK300527, AK300549
    Consensus CDS
    CCDS58675.1
    UniProtKB/Swiss-Prot
    P20151
    UniProtKB/TrEMBL
    B4DU77
    Related
    ENSP00000375686.2, ENST00000391810.6
    Conserved Domains (2) summary
    smart00020
    Location:13151
    Tryp_SPc; Trypsin-like serine protease
    cd00190
    Location:16154
    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 ...
  3. NM_005551.5NP_005542.1  kallikrein-2 isoform 1 preproprotein

    See identical proteins and their annotated locations for NP_005542.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC037199, AF188746, AK300527
    Consensus CDS
    CCDS12808.1
    UniProtKB/Swiss-Prot
    P20151
    UniProtKB/TrEMBL
    A0A024R4J4, B4DU77
    Related
    ENSP00000313581.2, ENST00000325321.7
    Conserved Domains (1) summary
    cd00190
    Location:25256
    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 ...

RNA

  1. NR_045762.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) has multiple differences, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC037199, AF188745
    Related
    ENST00000597439.1
  2. NR_045763.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) uses an alternate splice site, compared to variant 1. This variant (5) is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC037199, AF188745, AK300527

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p12 Primary Assembly

    Range
    50873433..50880567
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001002232.2: Suppressed sequence

    Description
    NM_001002232.2: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
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