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Aliases for KNCN Gene

Aliases for KNCN Gene

  • Kinocilin 2 3 3 5
  • Kino 3
  • L5 3

External Ids for KNCN Gene

Previous GeneCards Identifiers for KNCN Gene

  • GC01M046783
  • GC01M047011
  • GC01M045127

Summaries for KNCN Gene

GeneCards Summary for KNCN Gene

KNCN (Kinocilin) is a Protein Coding gene.

UniProtKB/Swiss-Prot for KNCN Gene

  • May play a role in stabilizing dense microtubular networks or in vesicular trafficking.

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

Genomics for KNCN Gene

Regulatory Elements for KNCN Gene

Enhancers for KNCN 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
GH01F046519 1.6 FANTOM5 Ensembl ENCODE 11.9 +30.1 30063 3.6 HDGF PKNOX1 ARNT CREB3L1 SIN3A CBX5 FOS KLF13 CEBPZ REST EFCAB14-AS1 DMBX1 IPP KNCN EFCAB14 TEX38 ATPAF1 NSUN4 MKNK1 CYP4Z1
GH01F046516 1.1 Ensembl ENCODE 11.9 +34.1 34078 2.1 TBP HDGF HDAC1 KLF17 GLIS2 GATA2 SMARCC2 EGR2 SMARCC1 SP3 KNCN MOB3C MKNK1 GC01P046525 DMBX1
GH01F046527 0.8 ENCODE 12 +24.5 24504 0.2 PKNOX1 SAP130 TEAD4 THRB RARA TEAD3 NR2F6 NFIA SP5 TEAD1 DMBX1 KNCN EFCAB14 MKNK1 GC01P046525 LOC105378696
GH01F046523 0.5 ENCODE 11.9 +27.8 27763 0.5 CTCF JUND ZNF600 RELA DMBX1 KNCN EFCAB14 FAAH GC01P046525
GH01F046549 0.9 Ensembl ENCODE 0.8 +1.8 1830 1.2 RFX1 MAX BMI1 GLIS2 ZFHX2 RFX3 FOXP2 FOXJ2 EGR2 MKNK1 CMPK1 KNCN MKNK1-AS1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KNCN on UCSC Golden Path with GeneCards custom track

Genomic Location for KNCN Gene

Chromosome:
1
Start:
46,545,638 bp from pter
End:
46,551,657 bp from pter
Size:
6,020 bases
Orientation:
Minus strand

Genomic View for KNCN Gene

Genes around KNCN on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for KNCN Gene

Proteins for KNCN Gene

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

    Protein Symbol:
    A6PVL3-KNCN_HUMAN
    Recommended name:
    Kinocilin
    Protein Accession:
    A6PVL3
    Secondary Accessions:
    • A8MXE3

    Protein attributes for KNCN Gene

    Size:
    124 amino acids
    Molecular mass:
    12832 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for KNCN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KNCN Gene

Post-translational modifications for KNCN Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KNCN Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KNCN Gene

Domains & Families for KNCN Gene

Protein Domains for KNCN Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KNCN Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

No data available for Gene Families and UniProtKB/Swiss-Prot for KNCN Gene

Function for KNCN Gene

Molecular function for KNCN Gene

UniProtKB/Swiss-Prot Function:
May play a role in stabilizing dense microtubular networks or in vesicular trafficking.

Animal Model Products

miRNA for KNCN Gene

miRTarBase miRNAs that target KNCN

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KNCN Gene

Localization for KNCN Gene

Subcellular locations from UniProtKB/Swiss-Prot for KNCN Gene

Membrane; Multi-pass membrane protein.

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 KNCN gene
Compartment Confidence
plasma membrane 4
extracellular 3
cytoskeleton 2

Gene Ontology (GO) - Cellular Components for KNCN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015630 microtubule cytoskeleton IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0016324 apical plasma membrane IEA --
GO:0032437 cuticular plate IEA --
genes like me logo Genes that share ontologies with KNCN: view

Pathways & Interactions for KNCN Gene

No Data Available

Interacting Proteins for KNCN Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000379607%0d%0a9606.ENSP00000389140%0d%0a
Selected Interacting proteins: ENSP00000379607 for KNCN Gene via STRING

Symbol External ID(s) Details
DCC

Gene Ontology (GO) - Biological Process for KNCN Gene

None

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

Transcripts for KNCN Gene

mRNA/cDNA for KNCN Gene

(3) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(2) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for KNCN Gene

Kinocilin:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for KNCN Gene

GeneLoc Exon Structure for
KNCN
ECgene alternative splicing isoforms for
KNCN

Expression for KNCN Gene

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

mRNA differential expression in normal tissues according to GTEx for KNCN Gene

This gene is overexpressed in Brain - Hypothalamus (x7.5), Brain - Nucleus accumbens (basal ganglia) (x7.1), and Testis (x7.0).

NURSA nuclear receptor signaling pathways regulating expression of KNCN Gene:

KNCN

SOURCE GeneReport for Unigene cluster for KNCN Gene:

Hs.350764
genes like me logo Genes that share expression patterns with KNCN: view

Primer Products

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

Orthologs for KNCN Gene

This gene was present in the common ancestor of chordates.

Orthologs for KNCN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KNCN 34 35
  • 99.01 (n)
cow
(Bos Taurus)
Mammalia KNCN 34 35
  • 88.67 (n)
dog
(Canis familiaris)
Mammalia KNCN 34 35
  • 85.33 (n)
mouse
(Mus musculus)
Mammalia Kncn 34 16 35
  • 83.33 (n)
rat
(Rattus norvegicus)
Mammalia Kncn 34
  • 82 (n)
zebrafish
(Danio rerio)
Actinopterygii KNCN 35
  • 10 (a)
OneToOne
Species where no ortholog for KNCN 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)
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)

Evolution for KNCN Gene

ENSEMBL:
Gene Tree for KNCN (if available)
TreeFam:
Gene Tree for KNCN (if available)

Paralogs for KNCN Gene

No data available for Paralogs for KNCN Gene

Variants for KNCN Gene

Sequence variations from dbSNP and Humsavar for KNCN Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs10890404 -- 46,547,508(+) CGGCG(A/G)CACCT intron-variant, utr-variant-3-prime
rs111697924 -- 46,553,565(+) AGGGC(C/T)GTCCC intron-variant, upstream-variant-2KB
rs112106037 -- 46,549,820(+) CTAGC(-/G)GCGGT intron-variant
rs112111982 -- 46,547,233(+) CTTGT(C/T)TAGCC intron-variant, utr-variant-3-prime
rs112174216 -- 46,547,835(+) GAGGA(A/C/T)TGCCT intron-variant

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

Variant ID Type Subtype PubMed ID
esv2761743 CNV gain 21179565
nsv1008246 CNV loss 25217958
nsv1009193 CNV gain 25217958
nsv755 CNV insertion 18451855

Variation tolerance for KNCN Gene

Residual Variation Intolerance Score: 74.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.51; 43.85% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KNCN Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KNCN

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

Disorders for KNCN Gene

Relevant External Links for KNCN

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KNCN

No disorders were found for KNCN Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KNCN Gene

Publications for KNCN Gene

  1. Initial characterization of kinocilin, a protein of the hair cell kinocilium. (PMID: 15855039) Leibovici M. … Petit C. (Hear. Res. 2005) 2 3 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3 64
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 4 64
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3 64

Products for KNCN Gene

Sources for KNCN Gene

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