This biological region is found within an intron of the serine/threonine kinase 11 (STK11) gene, and is known to undergo Alu-repeat-mediated non-allelic homologous recombination (NAHR) with the serine/threonine kinase 11 intron 1 recombination region, located about 7 kb centromere-distal to this region on the reference genome. Recombination between these regions can result in d... See more...

Aliases for LOC110006318 Gene

Aliases for LOC110006318 Gene

  • Serine/Threonine Kinase 11 Intron 3 Alu-Mediated Recombination Region 3
  • STK11 Intron 3 Alu-Mediated Recombination Region 3

External Ids for LOC110006318 Gene

Summaries for LOC110006318 Gene

Entrez Gene Summary for LOC110006318 Gene

  • This biological region is found within an intron of the serine/threonine kinase 11 (STK11) gene, and is known to undergo Alu-repeat-mediated non-allelic homologous recombination (NAHR) with the serine/threonine kinase 11 intron 1 recombination region, located about 7 kb centromere-distal to this region on the reference genome. Recombination between these regions can result in deletion of the intervening sequences. Deletion of a portion of the serine/threonine kinase 11 gene is one cause of Peutz-Jeghers syndrome, an autosomal dominant condition. Other deletions, rearrangements, and mutations have been shown to be causative for Peutz-Jeghers syndrome, but are not represented in this region. This region represents only the recurrent recombination event that occurs with the serine/threonine kinase 11 intron 1 recombination region. [provided by RefSeq, Mar 2017]

GeneCards Summary for LOC110006318 Gene

LOC110006318 (Serine/Threonine Kinase 11 Intron 3 Alu-Mediated Recombination Region) is a Biological Region gene. Diseases associated with LOC110006318 include Peutz-Jeghers Syndrome.

Additional gene information for LOC110006318 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LOC110006318 Gene

Genomics for LOC110006318 Gene

Genomic Locations for LOC110006318 Gene

Genomic Locations for LOC110006318 Gene
chr19:-
(GRCh38/hg38)
Orientation:
Unknown strand

Genomic View for LOC110006318 Gene


Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for LOC110006318 Gene

No data available for GeneHancer (GH) Regulatory Elements for LOC110006318 Gene

Proteins for LOC110006318 Gene

Post-translational modifications for LOC110006318 Gene

No Post-translational modifications

No data available for DME Specific Peptides for LOC110006318 Gene

Domains & Families for LOC110006318 Gene

No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for LOC110006318 Gene

Function for LOC110006318 Gene

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for LOC110006318 Gene

Localization for LOC110006318 Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for LOC110006318 Gene

Pathways & Interactions for LOC110006318 Gene

PathCards logo

SuperPathways for LOC110006318 Gene

No Data Available
;

Gene Ontology (GO) - Biological Process for LOC110006318 Gene

None

No data available for Pathways by source , Interacting Proteins and SIGNOR curated interactions for LOC110006318 Gene

Drugs & Compounds for LOC110006318 Gene

No Compound Related Data Available

Transcripts for LOC110006318 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for LOC110006318 Gene

No ASD Table

No data available for mRNA/cDNA for LOC110006318 Gene

Expression for LOC110006318 Gene

No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for LOC110006318 Gene

Orthologs for LOC110006318 Gene

No data available for Orthologs and Evolution for LOC110006318 Gene

Paralogs for LOC110006318 Gene

No data available for Paralogs for LOC110006318 Gene

Variants for LOC110006318 Gene

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP , Additional dbSNP identifiers (rs#s) , Structural Variations from Database of Genomic Variants (DGV) , Variation tolerance and Additional Variant Information for LOC110006318 Gene

Disorders for LOC110006318 Gene

MalaCards: The human disease database

(1) MalaCards diseases for LOC110006318 Gene - From: GeneCards

Disorder Aliases PubMed IDs
peutz-jeghers syndrome
  • pjs
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with LOC110006318: view

No data available for UniProtKB/Swiss-Prot , Genatlas and External Links for LOC110006318 Gene

Publications for LOC110006318 Gene

  1. Specific Alu elements involved in a significant percentage of copy number variations of the STK11 gene in patients with Peutz-Jeghers syndrome. (PMID: 25841653) Borun P … Plawski A (Familial cancer 2015) 3 54
  2. Large deletions and splicing-site mutations in the STK11 gene in Peutz-Jeghers Chilean families. (PMID: 22775437) Orellana P … Alvarez K (Clinical genetics 2013) 3 54
  3. High prevalence of germline STK11 mutations in Hungarian Peutz-Jeghers Syndrome patients. (PMID: 21118512) Papp J … Olah E (BMC medical genetics 2010) 3 54
  4. Germline mutation analysis of STK11 gene using direct sequencing and multiplex ligation-dependent probe amplification assay in Korean children with Peutz-Jeghers syndrome. (PMID: 20393878) Yang HR … Seo JK (Digestive diseases and sciences 2010) 3 54
  5. Alu-mediated genomic deletion of the serine/threonine protein kinase 11 (STK11) gene in Peutz-Jeghers syndrome. (PMID: 20435009) De Rosa M … Izzo P (Gastroenterology 2010) 3 54

No data available for Mastermind for LOC110006318 Gene

Products for LOC110006318 Gene

Sources for LOC110006318 Gene