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

ANKS6 Gene

protein-coding   GIFtS: 50
GCID: GC09M101493

Ankyrin Repeat And Sterile Alpha Motif Domain Containing...

(Previous names: sterile alpha motif domain containing 6, ankyrin repeat...)
(Previous symbols: SAMD6, ANKRD14)
  See related diseases
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
Ankyrin Repeat And Sterile Alpha Motif Domain Containing 61 2     SAM Domain-Containing Protein 62 3
ANKRD141 2 3     NPHP162
SAMD61 2 3     PKDR12
Ankyrin Repeat Domain 141 2     Ankyrin Repeat And SAM Domain-Containing Protein 62
Sterile Alpha Motif Domain Containing 61 2     samCystin2
Ankyrin Repeat Domain-Containing Protein 142 3     SamCystin3
Sterile Alpha Motif Domain-Containing Protein 62 3     

External Ids:    HGNC: 267241   Entrez Gene: 2032862   Ensembl: ENSG000001651387   OMIM: 6153705   UniProtKB: Q68DC23   

Export aliases for ANKS6 gene to outside databases

Previous GC identifers: GC09M100533 GC09M071093


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

GeneCards Summary for ANKS6 Gene: 
ANKS6 (ankyrin repeat and sterile alpha motif domain containing 6) is a protein-coding gene. Diseases associated with ANKS6 include tooth agenesis, and cystic kidney. GO annotations related to this gene include protein homodimerization activity. An important paralog of this gene is TANC2.

UniProtKB/Swiss-Prot: ANKS6_HUMAN, Q68DC2
Function: Required for renal function (By similarity)




(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_000009.11  NT_008470.19  NC_018920.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ANKS6 gene promoter:
         ATF-2   MyoD   Lmo2   AP-2gamma   CRE-BP1   AP-2beta   ZIC2/Zic2   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidANKS6 promoter sequence
   Search SABiosciences Chromatin IP Primers for ANKS6

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ANKS6


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

Entrez Gene cytogenetic band: 9q22.33   Ensembl cytogenetic band:  9q22.33   HGNC cytogenetic band: 9q31.1

ANKS6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ANKS6 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M101493:  view genomic region     (about GC identifiers)

Start:
101,493,611 bp from pter      End:
101,559,247 bp from pter
Size:
65,637 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: ANKS6_HUMAN, Q68DC2 (See protein sequence)
Recommended Name: Ankyrin repeat and SAM domain-containing protein 6  
Size: 871 amino acids; 92219 Da
Sequence caution: Sequence=AAH64367.1; Type=Erroneous initiation; Sequence=BAC04317.1; Type=Erroneous initiation;
Sequence=CAH18298.1; Type=Erroneous initiation; Sequence=CAH69985.2; Type=Erroneous gene model prediction;
Sequence=CAH69986.2; Type=Erroneous gene model prediction; Sequence=CAH71295.2; Type=Erroneous gene model
prediction; Sequence=CAH71296.2; Type=Erroneous gene model prediction;
Secondary accessions: A0SE62 Q5VSL0 Q5VSL2 Q5VSL3 Q5VSL4 Q68DB8 Q6P2R2 Q8N9L6 Q96D62
Alternative splicing: 3 isoforms:  Q68DC2-1   Q68DC2-3   Q68DC2-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ANKS6: NX_Q68DC2

Explore proteomics data for ANKS6 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q68DC2

  • ANKS6 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ANKS6 Protein Expression
    REFSEQ proteins: NP_775822.3  
    ENSEMBL proteins: 
     ENSP00000398648   ENSP00000364159   ENSP00000297837   ENSP00000364158   ENSP00000442189  

    Human Recombinant Protein Products for ANKS6: 
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    Cloud-Clone Corp. Proteins for ANKS6 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--

    ANKS6 for ontologies           About GeneDecksing



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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
    SAMD: Sterile alpha motif (SAM) domain containing

    5 InterPro protein domains:
     IPR013761 SAM/pointed
     IPR001660 SAM
     IPR021129 SAM_type1
     IPR020683 Ankyrin_rpt-contain_dom
     IPR002110 Ankyrin_rpt

    Graphical View of Domain Structure for InterPro Entry Q68DC2

    ProtoNet protein and cluster: Q68DC2

    2 Blocks protein domains:
    IPB001660 Sterile alpha motif SAM
    IPB011510 Sterile alpha motif homology 2


    UniProtKB/Swiss-Prot: ANKS6_HUMAN, Q68DC2
    Similarity: Contains 11 ANK repeats
    Similarity: Contains 1 SAM (sterile alpha motif) domain


    ANKS6 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: ANKS6_HUMAN, Q68DC2
    Function: Required for renal function (By similarity)

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0042803protein homodimerization activity IEA--
         
    ANKS6 for ontologies           About GeneDecksing


    Animal Models:
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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 ANKS6

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for ANKS6 (Q68DC22, 3 ENSP000002978374) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PARP2Q9UGN52, 3, ENSP000002504164MINT-8201818 I2D: score=1 STRING: ENSP00000250416
    About this table

    (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 ANKS6

    Search CenterWatch for drugs/clinical trials and news about ANKS6

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ANKS6 gene: 
    NM_173551.3  

    Unigene Cluster for ANKS6:

    Ankyrin repeat and sterile alpha motif domain containing 6
    Hs.406890  [show with all ESTs]
    Unigene Representative Sequence: NM_173551
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000444472(uc004ayv.2) ENST00000375019(uc004ayx.2) ENST00000353234
    ENST00000486778 ENST00000466120 ENST00000471846 ENST00000375018(uc004ayt.3 uc004ayy.2 uc004ayu.3)
    ENST00000540940
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    8/15 QIAGEN miScript miRNA Assays for microRNAs that regulate ANKS6 (see all 15):
    hsa-miR-3164 hsa-miR-3173-3p hsa-miR-3194-5p hsa-miR-330-5p hsa-miR-4299 hsa-miR-1285 hsa-miR-3922-3p hsa-miR-612
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ANKS6

    Additional mRNA sequence: 

    AK074328.1 AK094247.1 AK126614.1 AK127702.1 BC012981.2 BC064367.1 CR749467.1 CR749472.1 

    14 DOTS entries:

    DT.91754089  DT.211334  DT.87046743  DT.100715723  DT.91857333  DT.92422396  DT.436633  DT.92422397 
    DT.99956132  DT.91662882  DT.95222014  DT.95321026  DT.100688531  DT.121143276 

    24/132 AceView cDNA sequences (see all 132):

    BM712195 BU684750 BF939405 AK127702 AA707110 BU618570 AA627945 BU689528 
    BC064367 AI142639 AK074328 AI052071 AI435508 AI368621 BM797790 BM743278 
    BM695107 CR625196 BQ000746 BE792853 N75541 BE314115 AK126614 BM712067 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for ANKS6    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14a · 14b
    SP1:                                -                                               -     -     -               
    SP2:                                -                             -                                             
    SP3:                                -                             -                       -     -               
    SP4:                                                                                                            
    SP5:                                                                                            -               


    ECgene alternative splicing isoforms for ANKS6

    (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

    ANKS6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    ANKS6 Expression
    About this image


    See ANKS6 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ANKS6

    SOURCE GeneReport for Unigene cluster: Hs.406890
        SABiosciences Custom PCR Arrays for ANKS6
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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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for ANKS6 gene from 5/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Anks61 , 5 ankyrin repeat and sterile alpha motif domain containing more1, 5 78.72(n)1
    81.1(a)1
      4 (25.88 cM)5
    756911  NM_001024136.11  NP_001019307.11 
     470156695 
    chicken
    (Gallus gallus)
    Aves ANKS61 ankyrin repeat and sterile alpha motif domain containing more 70.21(n)
    71.88(a)
      420977  XM_419064.3  XP_419064.3 
    lizard
    (Anolis carolinensis)
    Reptilia ANKS66
    ankyrin repeat and sterile alpha motif domain cont...
    64(a)
    1 ↔ 1
    4(66844756-66877622)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.134222 Xenopus laevis transcribed sequence with weak similarity more 76.05(n)    BJ069222.1 
    worm
    (Caenorhabditis elegans)
    Secernentea C01H6.26
    Protein C01H6.2
    23(a)
    1 ↔ 1
    I(7204545-7207717)


    ENSEMBL Gene Tree for ANKS6 (if available)
    TreeFam Gene Tree for ANKS6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ANKS6 gene
    TANC22  ANKS32  ANKRD172  ANKRD292  FEM1A2  ANKHD12  FANK12  KIDINS2202  
    RNASEL2  ANKHD1-EIF4EBP32  FEM1B2  TANC12  FEM1C2  
    5 SIMAP similar genes for ANKS6 using alignment to 4 protein entries:     ANKS6_HUMAN (see all proteins):
    IkBa    DKFZp761E1322    MTPN    ANKDD1A    ANKRD6

    ANKS6 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

    10/1402 SNPs in ANKS6 are shown (see all 1402)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs746203081,2
    C,F--101493823(+) TAGAGG/ATGGAG 1 -- ds50011Minor allele frequency- A:0.03WA 118
    rs1166837381,2
    C--101493824(+) AGAGGG/TGGAGA 1 -- ds50010--------
    rs1439453021,2
    C--101493908(+) TGGGA-/GGGTCC 1 -- ds50010--------
    rs455435351,2
    F--101493958(+) CCCCAA/GGTTGG 1 -- ds50011Minor allele frequency- G:0.03EA 120
    rs132993201,2
    C--101493968(+) GCGGGG/TGTCCT 1 -- ds5001 ese30--------
    rs132994751,2
    H--101494015(+) TCTCAG/CCCTTA 1 -- ds50014Minor allele frequency- C:0.00NS EA 412
    rs1446798621,2
    C--101494069(+) CTGGGC/TTTTGT 1 -- ds50010--------
    rs3375911,2
    C,F,A,H--101494079(-) GAGCTT/CGAGCA 1 -- ds5001 ese324Minor allele frequency- C:0.24NS EA NA WA CSA 2352
    rs1485010011,2
    --101494190(+) TTAAGG/TCAGGG 1 -- ds50010--------
    rs1814492401,2
    --101494196(+) CAGGGC/TCTAAA 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for ANKS6 (101493611 - 101559247 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for ANKS6:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv989098CNV Loss20482838
    dgv8264n71CNV Gain21882294

    SABiosciences Cancer Mutation PCR Assays
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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
    OMIM gene information: 615370    OMIM disorders: --

    5 diseases for ANKS6:    About MalaCards
    tooth agenesis    cystic kidney    polycystic kidney disease    cleft lip
    kidney disease

    1 disease from the University of Copenhagen DISEASES database for ANKS6:
    Tooth agenesis

    ANKS6 for disorders           About GeneDecksing

    Genetic Association Database (GAD): ANKS6
    Human Genome Epidemiology (HuGE) Navigator: ANKS6 (1 document)

    Export disorders for ANKS6 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 ANKS6 gene, integrated from 9 sources (see all 14):
    (articles sorted by number of sources associating them with ANKS6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. ANKS6 is a central component of a nephronophthisis mod ule linking NEK8 to INVS and NPHP3. (PubMed id 23793029)1, 3 Hoff S....Lienkamp S.S. (2013)
    2. Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts. (PubMed id 18978678)1, 4 Vieira A.R....Marazita M.L. (2008)
    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. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (2004)
    6. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    7. Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. (PubMed id 19413330)2 Gauci S....Mohammed S. (2009)
    8. Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. (PubMed id 19690332)2 Mayya V.... Han D.K. (2009)
    9. Genomic organization and mutation screening of the human ortholog of Pkdr1 associated with polycystic kidney disease in the rat. (PubMed id 18434273)1 Kaisaki P.J....Bihoreau M.T. (2008)
    10. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (2008)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 203286 HGNC: 26724 AceView: SAMD6 Ensembl:ENSG00000165138 euGenes: HUgn203286
    ECgene: ANKS6 H-InvDB: ANKS6

    (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 ANKS6 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 ANKS6 gene:
    Search GeneIP for patents involving ANKS6

    GeneCards and IP:
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