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Aliases for ANKS6 Gene

Aliases for ANKS6 Gene

  • Ankyrin Repeat And Sterile Alpha Motif Domain Containing 6 2 3
  • PKDR1 3 4 6
  • Sterile Alpha Motif Domain-Containing Protein 6 3 4
  • Ankyrin Repeat Domain-Containing Protein 14 3 4
  • Sterile Alpha Motif Domain Containing 6 2 3
  • SAM Domain-Containing Protein 6 3 4
  • Ankyrin Repeat Domain 14 2 3
  • SamCystin 3 4
  • ANKRD14 3 4
  • NPHP16 3 6
  • SAMD6 3 4
  • Ankyrin Repeat And SAM Domain-Containing Protein 6 3

External Ids for ANKS6 Gene

Previous HGNC Symbols for ANKS6 Gene

  • SAMD6
  • ANKRD14

Previous GeneCards Identifiers for ANKS6 Gene

  • GC09M100533
  • GC09M101493
  • GC09M071093

Summaries for ANKS6 Gene

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 nephronophthisis 16 and infantile nephronophthisis. GO annotations related to this gene include protein homodimerization activity. An important paralog of this gene is TANC1.

UniProtKB/Swiss-Prot for ANKS6 Gene

  • Required for renal function.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ANKS6 Gene

Genomics for ANKS6 Gene

Regulatory Elements for ANKS6 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for ANKS6 Gene

Start:
98,731,329 bp from pter
End:
98,796,965 bp from pter
Size:
65,637 bases
Orientation:
Minus strand

Genomic View for ANKS6 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ANKS6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ANKS6 Gene

Proteins for ANKS6 Gene

  • Protein details for ANKS6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q68DC2-ANKS6_HUMAN
    Recommended name:
    Ankyrin repeat and SAM domain-containing protein 6
    Protein Accession:
    Q68DC2
    Secondary Accessions:
    • A0SE62
    • Q5VSL0
    • Q5VSL2
    • Q5VSL3
    • Q5VSL4
    • Q68DB8
    • Q6P2R2
    • Q8N9L6
    • Q96D62

    Protein attributes for ANKS6 Gene

    Size:
    871 amino acids
    Molecular mass:
    92219 Da
    Quaternary structure:
    • Self-associates. Interacts (via SAM domain) with BICC1 (via KH domains) in an RNA-dependent manner (By similarity). Central component of a complex containing at least ANKS6, INVS, NEK8 and NPHP3 (PubMed:23793029). ANKS6 may organize complex assembly by linking INVS and NPHP3 to NEK8 and INVS may target the complex to the proximal ciliary axoneme. Interacts with ANKS3 (By similarity).
    SequenceCaution:
    • Sequence=AAH64367.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAC04317.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAH18298.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAH69985.2; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAH69986.2; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAH71295.2; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAH71296.2; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ANKS6 Gene

    Alternative splice isoforms for ANKS6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ANKS6 Gene

Proteomics data for ANKS6 Gene at MOPED

Post-translational modifications for ANKS6 Gene

  • Hydroxylated at Asn-138, most probably by HIF1AN. This hydroxylation results in decreased NEK8-binding
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ANKS6 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ANKS6 Gene

Domains for ANKS6 Gene

Gene Families for ANKS6 Gene

HGNC:
  • ANKRD :Ankyrin repeat domain containing
  • SAMD :Sterile alpha motif (SAM) domain containing

Suggested Antigen Peptide Sequences for ANKS6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q68DC2

UniProtKB/Swiss-Prot:

ANKS6_HUMAN :
  • Q68DC2
Domain:
  • The ankyrin repeats and the SAM domain are essential for self-association (By similarity). Ankyrin repeats are necessary and sufficient for NEK8-binding.
  • Contains 1 SAM (sterile alpha motif) domain.
Similarity:
  • Contains 11 ANK repeats.
genes like me logo Genes that share domains with ANKS6: view

Function for ANKS6 Gene

Molecular function for ANKS6 Gene

UniProtKB/Swiss-Prot Function: Required for renal function.

Gene Ontology (GO) - Molecular Function for ANKS6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
GO:0042803 protein homodimerization activity IEA --
genes like me logo Genes that share ontologies with ANKS6: view

Animal Model Products

CRISPR Products

miRNA for ANKS6 Gene

miRTarBase miRNAs that target ANKS6

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for ANKS6 Gene

Localization for ANKS6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ANKS6 Gene

Cell projection, cilium. Cytoplasm. Note=Localizes to the proximal region of the primary cilium in the presence of INVS. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ANKS6 Gene COMPARTMENTS Subcellular localization image for ANKS6 gene
Compartment Confidence
cytosol 1
endoplasmic reticulum 1
mitochondrion 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for ANKS6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005929 cilium IEA --
genes like me logo Genes that share ontologies with ANKS6: view

Pathways for ANKS6 Gene

SuperPathways for ANKS6 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ANKS6 Gene

None

No data available for Pathways by source for ANKS6 Gene

Transcripts for ANKS6 Gene

Unigene Clusters for ANKS6 Gene

Ankyrin repeat and sterile alpha motif domain containing 6:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ANKS6

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for ANKS6

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ANKS6 Gene

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

Relevant External Links for ANKS6 Gene

GeneLoc Exon Structure for
ANKS6
ECgene alternative splicing isoforms for
ANKS6

Expression for ANKS6 Gene

mRNA expression in normal human tissues for ANKS6 Gene

mRNA differential expression in normal tissues according to GTEx for ANKS6 Gene

This gene is overexpressed in Brain - Cerebellum (4.5) and Brain - Cerebellar Hemisphere (4.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ANKS6 Gene

SOURCE GeneReport for Unigene cluster for ANKS6 Gene Hs.406890

genes like me logo Genes that share expressions with ANKS6: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for ANKS6 Gene

Orthologs for ANKS6 Gene

This gene was present in the common ancestor of animals.

Orthologs for ANKS6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ANKS6 35
  • 99.65 (n)
  • 99.73 (a)
ANKS6 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ANKS6 35
  • 88.24 (n)
  • 92.23 (a)
ANKS6 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ANKS6 35
  • 89.05 (n)
  • 91.2 (a)
ANKS6 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Anks6 35
  • 84.43 (n)
  • 86.96 (a)
Anks6 16
Anks6 36
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ANKS6 36
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ANKS6 36
  • 73 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Anks6 35
  • 83.53 (n)
  • 86.28 (a)
chicken
(Gallus gallus)
Aves ANKS6 35
  • 69.12 (n)
  • 70.36 (a)
ANKS6 36
  • 65 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ANKS6 36
  • 65 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.13422 35
tropical clawed frog
(Silurana tropicalis)
Amphibia anks6 35
  • 64.98 (n)
  • 65.69 (a)
zebrafish
(Danio rerio)
Actinopterygii si:dkey-145p14.5 36
  • 20 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG42534 36
  • 11 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea nphp-2 36
  • 15 (a)
OneToMany
Species with no ortholog for ANKS6:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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)
  • wheat (Triticum aestivum)

Evolution for ANKS6 Gene

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

Paralogs for ANKS6 Gene

Selected SIMAP similar genes for ANKS6 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with ANKS6: view

Variants for ANKS6 Gene

Sequence variations from dbSNP and Humsavar for ANKS6 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type MAF
rs168083 -- 98,753,894(-) aactt(A/C)gaatt intron-variant
rs180038 -- 98,752,134(-) GCTGT(C/G)TTGCC intron-variant
rs180039 -- 98,750,782(-) TTCCT(C/G)TCCTG intron-variant
rs182877 -- 98,739,837(-) GCGGA(A/G)CCTGC intron-variant
rs337562 -- 98,752,830(-) CTGTT(C/G)TTGCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ANKS6 Gene

Variant ID Type Subtype PubMed ID
dgv8264n71 CNV Gain 21882294
esv989098 CNV Loss 20482838

Relevant External Links for ANKS6 Gene

HapMap Linkage Disequilibrium report
ANKS6
Human Gene Mutation Database (HGMD)
ANKS6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ANKS6 Gene

Disorders for ANKS6 Gene

(1) OMIM Diseases for ANKS6 Gene (615370)

UniProtKB/Swiss-Prot

ANKS6_HUMAN
  • Nephronophthisis 16 (NPHP16) [MIM:615382]: A form of nephronophthisis, a chronic tubulo-interstitial nephritis that progresses to end-stage renal failure. Some patients have cystic kidneys of normal size and no extrarenal manifestations, whereas others have enlarged renal size and severe extrarenal defects, including hypertrophic obstructive cardiomyopathy, aortic stenosis, pulmonary stenosis, patent ductus arteriosus, situs inversus, and periportal liver fibrosis. {ECO:0000269 PubMed:23793029}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for ANKS6 Gene

Relevant External Links for ANKS6

Genetic Association Database (GAD)
ANKS6
Human Genome Epidemiology (HuGE) Navigator
ANKS6
genes like me logo Genes that share disorders with ANKS6: view

Publications for ANKS6 Gene

  1. ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3. (PMID: 23793029) Hoff S. … Lienkamp S.S. (Nat. Genet. 2013) 2 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray S.J. … Dunham I. (Nature 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. Genomic organization and mutation screening of the human ortholog of Pkdr1 associated with polycystic kidney disease in the rat. (PMID: 18434273) Kaisaki P.J. … Bihoreau M.T. (Eur J Med Genet 2008) 3 4

Products for ANKS6 Gene

Sources for ANKS6 Gene

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