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Aliases for KLLN Gene

Aliases for KLLN Gene

  • Killin, P53-Regulated DNA Replication Inhibitor 2 3 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.

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

Regulatory Elements for KLLN Gene

Enhancers for KLLN Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10G088061 1.8 FANTOM5 Ensembl ENCODE dbSUPER 19.1 -201.7 -201664 6.6 PKNOX1 FOXA2 WRNIP1 YY1 ZNF207 JUNB ZNF623 TBX21 ZNF518A NBN PTEN KLLN MINPP1 NUTM2D MED6P1 GC10P088093
GH10G088383 1.8 FANTOM5 Ensembl ENCODE dbSUPER 11.8 -523.7 -523670 7.4 HNRNPUL1 PKNOX1 FEZF1 YY1 GLIS2 ZNF143 KLF7 NFYC JUNB TBX21 KLLN PTEN LIPK GC10P088387 VN1R55P
GH10G088106 1.3 FANTOM5 Ensembl ENCODE dbSUPER 11.1 -243.2 -243249 1.4 EED IKZF1 IKZF2 ZNF623 SPI1 PTEN KLLN LOC105378415 LOC101929727
GH10G088391 1.2 Ensembl ENCODE dbSUPER 11.9 -528.9 -528886 1.3 ZBED1 DPF2 RAD21 RELA SP1 CBX5 POLR2A EED IKZF1 MLLT1 KLLN PTEN ANKRD22 GC10P088387 GC10M088413
GH10G087915 1.1 Ensembl ENCODE dbSUPER 12.7 -53.9 -53948 4.1 JUN HDAC2 POLR2A GATA2 ZSCAN5C GLIS1 HMBOX1 PRDM1 ZNF18 PTEN KLLN RPL11P3 ENSG00000224745
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KLLN on UCSC Golden Path with GeneCards custom track

Genomic Location for KLLN Gene

Chromosome:
10
Start:
87,859,161 bp from pter
End:
87,863,437 bp from pter
Size:
4,277 bases
Orientation:
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:
    B2CW77-KILIN_HUMAN
    Recommended name:
    Killin
    Protein Accession:
    B2CW77

    Protein attributes for KLLN Gene

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

neXtProt entry for KLLN Gene

Post-translational modifications for KLLN Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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

Protein Domains for KLLN Gene

ProtoNet:

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 Gene Families and 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.

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

Animal Model Products

miRNA for KLLN Gene

miRTarBase miRNAs that target KLLN

Inhibitory RNA Products

Clone Products

Flow Cytometry 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

COMPARTMENTS
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

Gene Ontology (GO) - Cellular Components for KLLN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA --
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,IEA 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

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:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for KLLN Gene

GeneLoc Exon Structure for
KLLN
ECgene alternative splicing isoforms for
KLLN

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:

KLLN

SOURCE GeneReport for Unigene cluster for KLLN Gene:

Hs.559820

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
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
Thorax:
  • breast
  • chest wall
  • clavicle
  • esophagus
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • adrenal gland
  • appendix
  • duodenum
  • intestine
  • kidney
  • large intestine
  • small intestine
  • stomach
Pelvis:
  • ovary
  • pelvis
  • penis
  • rectum
  • testicle
  • ureter
  • urethra
  • urinary bladder
  • uterus
Limb:
  • 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
General:
  • 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

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia KLLN 34 35
  • 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

ENSEMBL:
Gene Tree for KLLN (if available)
TreeFam:
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 Sequence Context AA Info Type
rs121909233 Pathogenic 87,864,524(+) AAGAG(A/G)ATGGA upstream-variant-2KB, reference, missense, utr-variant-5-prime
rs121913290 Pathogenic 87,864,486(+) CATCA(-/AA)GAGAT upstream-variant-2KB, reference, frameshift-variant, utr-variant-5-prime
rs587776671 Pathogenic 87,864,509(+) CAAAA(-/A)GGAGA upstream-variant-2KB, reference, frameshift-variant, utr-variant-5-prime
rs587776674 Pathogenic 87,863,705(+) GCGAG(A/G)GAGAT upstream-variant-2KB, utr-variant-5-prime
rs587776675 Pathogenic 87,863,608(+) CGCTG(C/G/T)GACGC upstream-variant-2KB, utr-variant-5-prime

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

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

Variation tolerance for KLLN Gene

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

Relevant External Links for KLLN Gene

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

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: OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cowden syndrome 4
  • cws4
cowden disease
  • dysplastic gangliocytoma of cerebellum
familial 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

UniProtKB/Swiss-Prot

KILIN_HUMAN
  • 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}.

Relevant External Links for KLLN

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 Y.J. … Liang P. (Proc. Natl. Acad. Sci. U.S.A. 2008) 2 3 4 64
  2. Germline epigenetic regulation of KILLIN in Cowden and Cowden-like syndrome. (PMID: 21177507) Bennett K.L. … Eng C. (JAMA 2010) 3 4 64
  3. Upregulated microRNA-224 promotes ovarian cancer cell proliferation by targeting KLLN. (PMID: 27663866) Hu K. … Liang M. (In Vitro Cell. Dev. Biol. Anim. 2016) 3 64
  4. KLLN epigenotype-phenotype associations in Cowden syndrome. (PMID: 25669429) Nizialek E.A. … Eng C. (Eur. J. Hum. Genet. 2015) 3 64
  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 2015) 3 64

Products for KLLN Gene

Sources for KLLN Gene

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