Human Gene KLK12 (uc002pvh.1) Description and Page Index
  Description: Homo sapiens kallikrein-related peptidase 12 (KLK12), transcript variant 1, mRNA.
RefSeq Summary (NM_019598): 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]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## RNAseq introns :: mixed/partial sample support SAMEA1968540, SAMEA1968832 [ECO:0000350] ##Evidence-Data-END##
Transcript (Including UTRs)
   Position: hg19 chr19:51,532,348-51,538,148 Size: 5,801 Total Exon Count: 7 Strand: -
Coding Region
   Position: hg19 chr19:51,532,411-51,537,877 Size: 5,467 Coding Exon Count: 6 

Page IndexSequence and LinksGenetic AssociationsCTDGene AllelesRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesmRNA DescriptionsPathways
Other NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:51,532,348-51,538,148)mRNA (may differ from genome)Protein (254 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHGNCHPRDLynxMGIOMIM
PubMedReactomeStanford SOURCETreefamUniProtKBWikipedia

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): KLK12
CDC HuGE Published Literature: KLK12

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 66.20 RPKM in Esophagus - Mucosa
Total median expression: 91.07 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -21.70117-0.185 Picture PostScript Text
3' UTR -8.0063-0.127 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  Pfam Domains:
PF00089 - Trypsin
PF13365 - Trypsin-like peptidase domain

SCOP Domains:
50494 - Trypsin-like serine proteases

ModBase Predicted Comparative 3D Structure on Q9UKR0-2
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Descriptions from all associated GenBank mRNAs
  KY697987 - Homo sapiens kallikrein-12 isoform 4 (KLK12) mRNA, complete cds.
AY358524 - Homo sapiens clone DNA65409 KLK12 (UNQ669) mRNA, complete cds.
LP896140 - Sequence 1004 from Patent EP3253886.
BX648580 - Homo sapiens mRNA; cDNA DKFZp686H1078 (from clone DKFZp686H1078).
BC035385 - Homo sapiens kallikrein-related peptidase 12, mRNA (cDNA clone MGC:42603 IMAGE:4825490), complete cds.
BC136341 - Homo sapiens kallikrein-related peptidase 12, mRNA (cDNA clone MGC:167951 IMAGE:9020328), complete cds.
BC143990 - Homo sapiens cDNA clone IMAGE:9052508.
BC143991 - Homo sapiens cDNA clone IMAGE:9052509.
BC143988 - Homo sapiens cDNA clone IMAGE:9052506.
KJ902528 - Synthetic construct Homo sapiens clone ccsbBroadEn_11922 KLK12 gene, encodes complete protein.
JD262563 - Sequence 243587 from Patent EP1572962.
JD264295 - Sequence 245319 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9UKR0 (Reactome details) participates in the following event(s):

R-HSA-8850786 SPINK6 binds KLK12
R-HSA-6809371 Formation of the cornified envelope
R-HSA-6805567 Keratinization
R-HSA-1266738 Developmental Biology

-  Other Names for This Gene
  Alternate Gene Symbols: KLKL5, NM_019598, NP_062544, Q9UKR0-2, UNQ669/PRO1303
UCSC ID: uc002pvh.1
RefSeq Accession: NM_019598
Protein: Q9UKR0-2, splice isoform of Q9UKR0 CCDS: CCDS12820.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_019598.2
exon count: 7CDS single in 3' UTR: no RNA size: 945
ORF size: 765CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1711.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.