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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

KANK3 Gene

protein-coding   GIFtS: 43
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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NT_077812.2  NC_018930.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for KANK3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q6NY19

  • KANK3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    KANK3 Protein Expression
    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)
    About This Section
    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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    About this table

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


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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for KANK3

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for KANK3

    Search CenterWatch for drugs/clinical trials and news about 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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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    About This Section

    REFSEQ mRNAs for KANK3 gene: 
    NM_198471.2  

    Unigene Cluster for KANK3:

    KN motif and ankyrin repeat domains 3
    Hs.745036  [show with all ESTs]
    Unigene Representative Sequence: NM_198471
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000330915(uc010dwa.3 uc002mjp.1) ENST00000593649 ENST00000595639
    ENST00000593331
    miRNA
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    Additional mRNA sequence: 

    AB284126.1 AK097023.1 AK128815.1 BC035849.2 BC066124.1 BC066775.1 

    8 DOTS entries:

    DT.100685164  DT.102838910  DT.86854456  DT.99930492  DT.75156693  DT.100700773  DT.95334037  DT.99999059 

    24/537 AceView cDNA sequences (see all 537):

    CB961134 AF050637 N47699 AA129943 AA873215 CR594295 AI936727 CR621881 
    BM453235 BC003102 BI754997 BC066124 AK058014 BM711617 CB108536 BE264364 
    BE259764 AF070591 CB141050 BQ439279 AA285003 BG254913 AA622394 CF528604 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    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


    See KANK3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KANK3

    SOURCE GeneReport for Unigene cluster: Hs.745036

    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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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KANK3

    (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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for KANK3 gene from 4/10 species (see all 10)    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 77.99(n)1
    78.33(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
    39(a)
    1 ↔ 1
    28(877452-886036)
    zebrafish
    (Danio rerio)
    Actinopterygii kank36
    KN motif and ankyrin repeat domains 3
    32(a)
    1 ↔ 1
    8(49914159-49982349)
    worm
    (Caenorhabditis elegans)
    Secernentea vab-196
    Protein VAB-19
    16(a)
    1 ↔ 1
    II(2443292-2451140)


    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)
    About This Section
    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/576 SNPs in KANK3 are shown (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
    ----------
    VAR_0269104
    ----see VAR_0269102 R H mis40--------
    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

    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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    KANK3 for disorders           About MalaCards
    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)
    About This Section

    PubMed articles for KANK3 gene integrated from 9 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. (2008)
    2. Kank proteins: structure, functions and diseases. (PubMed id 19554261)1, 3 Kakinuma N....Kiyama R. (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. (2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. 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. (2002)
    6. Large-scale concatenation cDNA sequencing. (PubMed id 9110174)1 Yu W.... Gibbs R.A. (1997)
    7. A "double adaptor" method for improved shotgun library construction. (PubMed id 8619474)1 Andersson B.... Gibbs R.A. (1996)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 256949 HGNC: 24796 AceView: NDUFA7and8D6AandFLJ46061 Ensembl:ENSG00000186994 euGenes: HUgn256949
    ECgene: KANK3 H-InvDB: KANK3

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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