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    ANKS6 ankyrin repeat and sterile alpha motif domain containing 6 [ Homo sapiens (human) ]

    Gene ID: 203286, updated on 27-Nov-2024

    Summary

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    Official Symbol
    ANKS6provided by HGNC
    Official Full Name
    ankyrin repeat and sterile alpha motif domain containing 6provided by HGNC
    Primary source
    HGNC:HGNC:26724
    See related
    Ensembl:ENSG00000165138 MIM:615370; AllianceGenome:HGNC:26724
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PKDR1; SAMD6; NPHP16; ANKRD14
    Summary
    This gene encodes a protein containing multiple ankyrin repeats and a SAM domain. It is thought that this protein may localize to the proximal region of the primary cilium, and may play a role in renal and cardiovascular development. Mutations in this gene have been shown to cause a form of nephronophthisis (NPHP16), a chronic tubulo-interstitial nephritis. [provided by RefSeq, Jul 2015]
    Expression
    Ubiquitous expression in thyroid (RPKM 4.5), kidney (RPKM 2.8) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ANKS6 in Genome Data Viewer
    Location:
    9q22.33
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (98732009..98796555, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (110903669..110968205, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (101494291..101558837, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene gamma-aminobutyric acid type B receptor subunit 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:101372736-101373728 Neighboring gene septin 7 pseudogene 7 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:101430118-101430303 Neighboring gene uncharacterized LOC124902228 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:101468843-101469414 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:101469986-101470556 Neighboring gene Sharpr-MPRA regulatory region 5777 Neighboring gene Sharpr-MPRA regulatory region 9654 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20120 Neighboring gene H3K27ac hESC enhancers GRCh37_chr9:101558100-101558600 and GRCh37_chr9:101558601-101559101 Neighboring gene uncharacterized LOC124902229 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20122 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20123 Neighboring gene Sharpr-MPRA regulatory region 15412 Neighboring gene polypeptide N-acetylgalactosaminyltransferase 12

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Biallelic ANKS6 mutations cause late-onset ciliopathy with chronic kidney disease through YAP dysregulation. Schwarz H, et al. Hum Mol Genet, 2022 May 4. PMID 34740236
    2. Mutations in ANKS6 cause a nephronophthisis-like phenotype with ESRD. Taskiran EZ, et al. J Am Soc Nephrol, 2014 Aug. PMID 24610927, Free PMC Article
    3. Genomic organization and mutation screening of the human ortholog of Pkdr1 associated with polycystic kidney disease in the rat. Kaisaki PJ, et al. Eur J Med Genet, 2008 Jul-Aug. PMID 18434273
    4. The SAM domain of ANKS6 has different interacting partners and mutations can induce different cystic phenotypes. Bakey Z, et al. Kidney Int, 2015 Aug. PMID 26039630
    5. Characterization of the SAM domain of the PKD-related protein ANKS6 and its interaction with ANKS3. Leettola CN, et al. BMC Struct Biol, 2014 Jul 7. PMID 24998259, Free PMC Article

    See all (39) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Biallelic ANKS6 mutations cause late-onset ciliopathy with chronic kidney disease through YAP dysregulation.
      Title: Biallelic ANKS6 mutations cause late-onset ciliopathy with chronic kidney disease through YAP dysregulation.
    2. Study finds that ANKS3-SAM polymerizes and ANKS6-SAM can bind to one end of the polymer; study presents crystal structures of both the ANKS3-SAM polymer and the ANKS3-SAM/ANKS6-SAM complex, revealing the molecular details of their association.
      Title: Characterization of the SAM domain of the PKD-related protein ANKS6 and its interaction with ANKS3.
    3. Data indicate the importance of ANKS6 in human kidney development and suggest a mechanism by which mutations in ANKS6 may contribute to an nephronophthisis-like phenotype in chronic kidney disease.
      Title: Mutations in ANKS6 cause a nephronophthisis-like phenotype with ESRD.
    4. ANKS6 as a new NPHP family member that assembles a distinct module of nephronophthisis-associated proteins, encompassing NEK8, INVS and NPHP3.
      Title: ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3.
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts.
    6. Location, sequence and structure of the gene encoding human SamCystin have been determined.
      Title: Genomic organization and mutation screening of the human ortholog of Pkdr1 associated with polycystic kidney disease in the rat.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Nephronophthisis 16
    MedGen: C3809320 OMIM: 615382 GeneReviews: Nephronophthisis-Related Ciliopathies
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC70366, DKFZp781I0117, DKFZp686D24121

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in determination of left/right symmetry IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in heart development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in kidney development IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in ciliary inversin compartment IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    ankyrin repeat and SAM domain-containing protein 6
    Names
    SAM domain-containing protein 6
    ankyrin repeat domain 14
    samCystin

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_042237.1 RefSeqGene

      Range
      4988..69534
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_173551.5 → NP_775822.3  ankyrin repeat and SAM domain-containing protein 6

      See identical proteins and their annotated locations for NP_775822.3

      Status: REVIEWED

      Source sequence(s)
      AK074328, AK127702, AL807776, BC012981, BC064367, BM552108, BX462630, BY994327, CR749472
      Consensus CDS
      CCDS43856.1
      UniProtKB/Swiss-Prot
      A0SE62, Q5VSL0, Q5VSL2, Q5VSL3, Q5VSL4, Q68DB8, Q68DC2, Q6P2R2, Q8N9L6, Q96D62
      Related
      ENSP00000297837.6, ENST00000353234.5
      Conserved Domains (6) summary
      cd09518
      Location:771 → 835
      SAM_ANKS6; SAM domain of ANKS6 (or SamCystin) subfamily
      smart00454
      Location:774 → 833
      SAM; Sterile alpha motif
      cd00204
      Location:72 → 211
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      pfam12796
      Location:115 → 218
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:193 → 245
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:78 → 108
      ANK; ANK repeat [structural motif]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      98732009..98796555 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      110903669..110968205 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q68DC2.2 GenPept UniProtKB/Swiss-Prot:Q68DC2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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