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KANK3 Gene

protein-coding   GIFtS: 40
GCID: GC19M008387

KN Motif And Ankyrin Repeat Domains 3

(Previous name: ankyrin repeat domain 47)
(Previous symbol: ANKRD47)
  Search for KANK3
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
KN Motif And Ankyrin Repeat Domains 31 2
ANKRD471 2 3
Ankyrin Repeat Domain 471 2
Ankyrin Repeat Domain-Containing Protein 472 3
Kidney Ankyrin Repeat-Containing Protein 32
KN Motif And Ankyrin Repeat Domain-Containing Protein 32

External Ids:    HGNC: 247961   Entrez Gene: 2569492   Ensembl: ENSG000001869947   OMIM: 6146115   UniProtKB: Q6NY193   

Export aliases for KANK3 gene to outside databases

Previous GC identifers: GC19M008297 GC19M008041


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for KANK3 Gene:
KANK3 (KN motif and ankyrin repeat domains 3) is a protein-coding gene. An important paralog of this gene is KANK2.

UniProtKB/Swiss-Prot: KANK3_HUMAN, Q6NY19
Function: May be involved in the control of cytoskeleton formation by regulating actin polymerization




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the KANK3 gene promoter:
         GATA-2   CREB   PPAR-gamma1   CP2   deltaCREB   c-Myb   PPAR-gamma2   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKANK3 promoter sequence
   Search Chromatin IP Primers for KANK3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KANK3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19p13.2   Ensembl cytogenetic band:  19p13.2   HGNC cytogenetic band: 19p13.2

KANK3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KANK3 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M008387:  view genomic region     (about GC identifiers)

Start:
8,387,468 bp from pter      End:
8,408,146 bp from pter
Size:
20,679 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: KANK3_HUMAN, Q6NY19 (See protein sequence)
Recommended Name: KN motif and ankyrin repeat domain-containing protein 3  
Size: 840 amino acids; 88425 Da
Secondary accessions: Q6NZI1 Q6ZQR3 Q8IUV2
Alternative splicing: 2 isoforms:  Q6NY19-1   Q6NY19-2   

Explore the universe of human proteins at neXtProt for KANK3: NX_Q6NY19

Explore proteomics data for KANK3 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See KANK3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_940873.2  
    ENSEMBL proteins: 
     ENSP00000328923   ENSP00000470728   ENSP00000470585  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ANKRD: Ankyrin repeat domain containing
    KANK: KN motif and ankyrin repeat domain containing

    3 InterPro protein domains:
     IPR002110 Ankyrin_rpt
     IPR021939 KN_motif
     IPR020683 Ankyrin_rpt-contain_dom

    Graphical View of Domain Structure for InterPro Entry Q6NY19

    ProtoNet protein and cluster: Q6NY19

    1 Blocks protein domain: IPB002110 Ankyrin repeat signature

    UniProtKB/Swiss-Prot: KANK3_HUMAN, Q6NY19
    Similarity: Contains 5 ANK repeats


    KANK3 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: KANK3_HUMAN, Q6NY19
    Function: May be involved in the control of cytoskeleton formation by regulating actin polymerization

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    KANK3 for ontologies           About GeneDecksing


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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    cytosol2

    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for KANK3
    Interactions:

        Search GeneGlobe Interaction Network for KANK3

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Tocris compounds for KANK3



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for KANK3 gene: 
    NM_198471.2  

    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000330915(uc010dwa.3 uc002mjp.1) ENST00000593649 ENST00000595639
    ENST00000593331
    miRNA
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    Selected AceView cDNA sequences (see all 537):

    BU543226 CB961134 AA129943 AI201394 BC003102 BQ957623 BM711617 CR624802 
    AI675995 BE259764 NM_016579 CR615825 BU732077 CA489619 AJ712866 CB108260 
    AA873215 BG164140 BM795432 CR594295 AI435535 BQ439279 BE265497 BI489876 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    KANK3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCCACCTGAG
    KANK3 Expression
    About this image

    KANK3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KANK3 Protein Expression

    UniProtKB/Swiss-Prot: KANK3_HUMAN, Q6NY19
    Tissue specificity: Strongly expressed in breast, liver, lung, skeletal muscle and kidney

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for KANK3 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Kank31 , 5 KN motif and ankyrin repeat domains 31, 5 76.5(n)1
    76.2(a)1
      17 (17.98 cM)5
    808801  NM_030697.21  NP_109622.11 
     338105205 
    chicken
    (Gallus gallus)
    Aves KANK36
    KN motif and ankyrin repeat domains 3
    40(a)
    1 ↔ 1
    28(877452-886036)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    38(a)
    many ↔ many
    AAWZ02040193(4326-6188)
    zebrafish
    (Danio rerio)
    Actinopterygii kank36
    KN motif and ankyrin repeat domains 3
    34(a)
    1 ↔ 1
    8(49914159-49982349) ENSDARG00000076566
    fruit fly
    (Drosophila melanogaster)
    Insecta CG102496
    --
    16(a)
    1 → many
    2R(10788980-10815930)
    worm
    (Caenorhabditis elegans)
    Secernentea vab-196
    Protein VAB-19 (vab-19) mRNA, complete cds
    19(a)
    1 → many
    II(2443292-2451140) WBGene00006882


    ENSEMBL Gene Tree for KANK3 (if available)
    TreeFam Gene Tree for KANK3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KANK3 gene
    KANK22  KANK12  KANK42  
    10 SIMAP similar genes for KANK3 using alignment to 2 protein entries:     KANK3_HUMAN (see all proteins):
    Kank3    NF2    AURA2    EIF3L    LINC00596    IkBa
    KANK4    FAM175A    PPP1R12A    KANK2

    KANK3 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for KANK3 (see all 576)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs112600791,2
    C,F,A,H--8388310(+) ggcgcG/Aatggc 1 -- int1 ese36Minor allele frequency- A:0.15NA CSA WA EA 366
    rs112600801,2
    C,F,A,H--8388380(+) gggagT/Gtggag 1 -- int11Minor allele frequency- G:0.00NA 4
    rs72535671,2
    C,A--8388410(+) GTGCCA/GCTGCA 1 -- int1 ese31Minor allele frequency- G:0.00CSA 1
    rs355963581,2
    C--8388456(+) AAAAA-/ATTAGC 1 -- int10--------
    rs775022741,2
    --8388858(+) TGATAA/GGAGCC 1 -- int10--------
    rs37606841,2
    C,F,A--8388940(+) TTACTT/CCCCCC 1 -- int1 trp33Minor allele frequency- C:0.18WA NA EA 358
    rs29139451,2
    C,F,A,H--8388953(+) TGAGGA/CCTCAG 1 -- int17Minor allele frequency- C:0.17NA EA 250
    rs1844364611,2
    --8388957(+) GACTCA/GGTCTC 1 -- int10--------
    rs37606851,2
    C,F,A,H--8389011(+) CACATC/AAAATC 1 -- int122Minor allele frequency- A:0.29NS EA NA WA CSA 2482
    rs1384012771,2
    C--8389015(+) TCAAAC/TCCCAG 1 -- int10--------

    HapMap Linkage Disequilibrium report for KANK3 (8387468 - 8408146 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for KANK3:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2718120CNV Deletion23290073
    esv2718122CNV Deletion23290073
    esv2718121CNV Deletion23290073
    nsv911001CNV Loss21882294
    dgv3719n71CNV Loss21882294
    dgv3718n71CNV Loss21882294

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 614611    OMIM disorders: --


    KANK3 for disorders           About GeneDecksing


    Export disorders for KANK3 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for KANK3 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with KANK3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Kank proteins: a new family of ankyrin-repeat domain-containing proteins. (PubMed id 17996375)1, 2, 3 Zhu Y.... Kiyama R. (Biochim. Biophys. Acta 2008)
    2. Kank proteins: structure, functions and diseases. (PubMed id 19554261)1, 3 Kakinuma N....Kiyama R. (Cell. Mol. Life Sci. 2009)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    6. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    7. Large-scale concatenation cDNA sequencing. (PubMed id 9110174)1 Yu W.... Gibbs R.A. (Genome Res. 1997)
    8. A "double adaptor" method for improved shotgun library construction. (PubMed id 8619474)1 Andersson B.... Gibbs R.A. (Anal. Biochem. 1996)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 256949 HGNC: 24796 AceView: NDUFA7and8D6AandFLJ46061 Ensembl:ENSG00000186994 euGenes: HUgn256949
    ECgene: KANK3 H-InvDB: KANK3

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for KANK3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for KANK3 gene:
    Search GeneIP for patents involving KANK3

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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