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Aliases for KLLN Gene

Aliases for KLLN Gene

  • Killin, P53 Regulated DNA Replication Inhibitor 2 3
  • Killin, P53-Regulated DNA Replication Inhibitor 2 5
  • KILLIN 3
  • CWS4 3

External Ids for KLLN Gene

Previous GeneCards Identifiers for KLLN Gene

  • GC10M089619

Summaries for KLLN Gene

Entrez Gene Summary for KLLN Gene

  • The protein encoded by this intronless gene is found in the nucleus, where it can inhibit DNA synthesis and promote S phase arrest coupled to apoptosis. The expression of this DNA binding protein is upregulated by transcription factor p53. [provided by RefSeq, Dec 2012]

CIViC summary for KLLN Gene

GeneCards Summary for KLLN Gene

KLLN (Killin, P53 Regulated DNA Replication Inhibitor) is a Protein Coding gene. Diseases associated with KLLN include Cowden Syndrome 4 and Cowden Disease.

UniProtKB/Swiss-Prot for KLLN Gene

  • DNA-binding protein involved in S phase checkpoint control-coupled apoptosis by mediating p53/TP53-induced apoptosis. Has the ability to inhibit DNA synthesis and S phase arrest coupled to apoptosis. Has affinity to both double- and single-stranded DNA.

Additional gene information for KLLN Gene

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KLLN Gene

Genomics for KLLN Gene

GeneHancer (GH) Regulatory Elements for KLLN Gene

Promoters and enhancers for KLLN Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10I087860 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 550.8 -1.3 -1300 9 CLOCK MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 PTEN KLLN NUTM2A-AS1 FAM35A RPL11P3 ADIRF-AS1 LIPJ ENSG00000224745
GH10I088061 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 19.1 -201.7 -201664 6.6 PKNOX1 FOXA2 SMAD1 IRF4 YY1 ZNF207 ATF7 RUNX3 RXRA JUNB PTEN KLLN MINPP1 NUTM2D MED6P1 GC10P088093 LOC105378415
GH10I088383 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 11.9 -523.7 -523670 7.4 PKNOX1 SMAD1 FEZF1 YY1 GLIS2 ZNF143 ATF7 KLF7 RUNX3 RXRA GC10P088387 KLLN PTEN LIPK VN1R55P RNLS
GH10I088391 Enhancer 1.1 Ensembl ENCODE dbSUPER 11.9 -528.9 -528885 1.3 IRF4 RAD21 RELA ETV6 BCLAF1 IKZF2 RUNX3 ZBED1 DPF2 ELF1 KLLN PTEN ANKRD22 GC10P088387 GC10M088413 RNLS
GH10I088106 Enhancer 1.1 FANTOM5 Ensembl ENCODE dbSUPER 11.1 -243.2 -243248 1.4 IKZF1 IKZF2 RUNX3 SPI1 PTEN KLLN LOC105378415 LOC101929727
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around KLLN on UCSC Golden Path with GeneCards custom track

Genomic Locations for KLLN Gene

Genomic Locations for KLLN Gene
4,277 bases
Minus strand

Genomic View for KLLN Gene

Genes around KLLN on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KLLN Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KLLN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KLLN Gene

Proteins for KLLN Gene

  • Protein details for KLLN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:

    Protein attributes for KLLN Gene

    178 amino acids
    Molecular mass:
    19958 Da
    Quaternary structure:
    No Data Available

neXtProt entry for KLLN Gene

Post-translational modifications for KLLN Gene

No Post-translational modifications

Other Protein References for KLLN Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KLLN Gene

Domains & Families for KLLN Gene

Gene Families for KLLN Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for KLLN Gene


Suggested Antigen Peptide Sequences for KLLN Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with KLLN: view

No data available for UniProtKB/Swiss-Prot for KLLN Gene

Function for KLLN Gene

Molecular function for KLLN Gene

UniProtKB/Swiss-Prot Function:
DNA-binding protein involved in S phase checkpoint control-coupled apoptosis by mediating p53/TP53-induced apoptosis. Has the ability to inhibit DNA synthesis and S phase arrest coupled to apoptosis. Has affinity to both double- and single-stranded DNA.
UniProtKB/Swiss-Prot Induction:
By p53/TP53; direct transcription target of p53/TP53.

Phenotypes From GWAS Catalog for KLLN Gene

Gene Ontology (GO) - Molecular Function for KLLN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
genes like me logo Genes that share ontologies with KLLN: view

Human Phenotype Ontology for KLLN Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

miRNA for KLLN Gene

miRTarBase miRNAs that target KLLN

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targets and HOMER Transcription for KLLN Gene

Localization for KLLN Gene

Subcellular locations from UniProtKB/Swiss-Prot for KLLN Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KLLN gene
Compartment Confidence
nucleus 5
extracellular 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for KLLN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005730 nucleolus IDA --
genes like me logo Genes that share ontologies with KLLN: view

Pathways & Interactions for KLLN Gene

No Data Available

Interacting Proteins for KLLN Gene

Gene Ontology (GO) - Biological Process for KLLN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006915 apoptotic process IMP 23418309
GO:0007049 cell cycle IEA --
GO:0007050 cell cycle arrest IDA 23418309
genes like me logo Genes that share ontologies with KLLN: view

No data available for Pathways by source and SIGNOR curated interactions for KLLN Gene

Drugs & Compounds for KLLN Gene

No Compound Related Data Available

Transcripts for KLLN Gene

mRNA/cDNA for KLLN Gene

(1) REFSEQ mRNAs :
(1) Additional mRNA sequences :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for KLLN Gene

Killin, p53-regulated DNA replication inhibitor:
Representative Sequences:

Clone Products

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

No ASD Table

Relevant External Links for KLLN Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for KLLN Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KLLN Gene

mRNA expression in normal human tissues for KLLN Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for KLLN Gene

NURSA nuclear receptor signaling pathways regulating expression of KLLN Gene:


SOURCE GeneReport for Unigene cluster for KLLN Gene:


Phenotype-based relationships between genes and organs from Gene ORGANizer for KLLN Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • chin
  • cranial nerve
  • ear
  • eye
  • face
  • head
  • hypothalamus
  • jaw
  • lip
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • parathyroid
  • pituitary gland
  • salivary gland
  • skull
  • thyroid
  • tongue
  • tooth
  • breast
  • chest wall
  • clavicle
  • esophagus
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • adrenal gland
  • appendix
  • duodenum
  • intestine
  • kidney
  • large intestine
  • small intestine
  • stomach
  • ovary
  • pelvis
  • penis
  • rectum
  • testicle
  • ureter
  • urethra
  • urinary bladder
  • uterus
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
  • blood
  • blood vessel
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with KLLN: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Evidence on tissue expression from TISSUES for KLLN Gene

Orthologs for KLLN Gene

This gene was present in the common ancestor of human and chimp.

Orthologs for KLLN Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia KLLN 33 34
  • 99.63 (n)
Species where no ortholog for KLLN was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • mouse (Mus musculus)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for KLLN Gene

Gene Tree for KLLN (if available)
Gene Tree for KLLN (if available)

Paralogs for KLLN Gene

No data available for Paralogs for KLLN Gene

Variants for KLLN Gene

Sequence variations from dbSNP and Humsavar for KLLN Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs1033255135 uncertain-significance, PTEN hamartoma tumor syndrome 87,864,175(-) T/C upstream_transcript_variant
rs1041809404 uncertain-significance, PTEN hamartoma tumor syndrome 87,864,349(-) A/G upstream_transcript_variant
rs1044322 benign, uncertain-significance, not specified 87,863,566(-) G/A/C upstream_transcript_variant
rs1057524874 pathogenic, Macrocephaly/autism syndrome 87,864,511(-) GAGA/GAGAGA upstream_transcript_variant
rs1060500109 uncertain-significance, PTEN hamartoma tumor syndrome 87,864,482(-) A/G upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for KLLN Gene

Variant ID Type Subtype PubMed ID
nsv1121819 CNV deletion 24896259
nsv1044700 CNV gain 25217958
nsv1041392 CNV gain 25217958
esv3624115 CNV loss 21293372
esv2673693 CNV deletion 23128226

Variation tolerance for KLLN Gene

Gene Damage Index Score: 2.40; 42.44% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KLLN Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KLLN Gene

Disorders for KLLN Gene

MalaCards: The human disease database

(3) MalaCards diseases for KLLN Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cowden syndrome 4
  • cws4
cowden disease
  • cs
breast cancer
  • breast cancer, familial
- elite association - COSMIC cancer census association via MalaCards
Search KLLN in MalaCards View complete list of genes associated with diseases


  • Cowden syndrome 4 (CWS4) [MIM:615107]: A form of Cowden syndrome, a hamartomatous polyposis syndrome with age-related penetrance. Cowden syndrome is characterized by hamartomatous lesions affecting derivatives of ectodermal, mesodermal and endodermal layers, macrocephaly, facial trichilemmomas (benign tumors of the hair follicle infundibulum), acral keratoses, papillomatous papules, and elevated risk for development of several types of malignancy, particularly breast carcinoma in women and thyroid carcinoma in both men and women. Colon cancer and renal cell carcinoma have also been reported. Hamartomas can be found in virtually every organ, but most commonly in the skin, gastrointestinal tract, breast and thyroid. {ECO:0000269 PubMed:21177507}. Note=The gene represented in this entry is involved in disease pathogenesis. Germline KLLN methylation is common among patients with Cowden syndrome or Cowden-like syndrome and is associated with increased risks of breast and renal cancer over PTEN mutation-positive individuals (PubMed:21177507). {ECO:0000269 PubMed:21177507}.

Additional Disease Information for KLLN

genes like me logo Genes that share disorders with KLLN: view

No data available for Genatlas for KLLN Gene

Publications for KLLN Gene

  1. Killin is a p53-regulated nuclear inhibitor of DNA synthesis. (PMID: 18385383) Cho YJ … Liang P (Proceedings of the National Academy of Sciences of the United States of America 2008) 2 3 4 58
  2. Germline epigenetic regulation of KILLIN in Cowden and Cowden-like syndrome. (PMID: 21177507) Bennett KL … Eng C (JAMA 2010) 3 4 58
  3. Upregulated microRNA-224 promotes ovarian cancer cell proliferation by targeting KLLN. (PMID: 27663866) Hu K … Liang M (In vitro cellular & developmental biology. Animal 2017) 3 58
  4. Cancer-predisposition gene KLLN maintains pericentric H3K9 trimethylation protecting genomic stability. (PMID: 26673699) Nizialek EA … Eng C (Nucleic acids research 2016) 3 58
  5. Cell cycle specific distribution of killin: evidence for negative regulation of both DNA and RNA synthesis. (PMID: 25945611) Qiao M … Liang P (Cell cycle (Georgetown, Tex.) 2015) 3 58

Products for KLLN Gene

Sources for KLLN Gene

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