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Aliases for ANKS6 Gene

Aliases for ANKS6 Gene

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

Entrez Gene Summary for ANKS6 Gene

  • 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]

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 nephronophthisis 4. 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 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

Chromosome:
9
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 & Families for ANKS6 Gene

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 :
  • The ankyrin repeats and the SAM domain are essential for self-association (By similarity). Ankyrin repeats are necessary and sufficient for NEK8-binding.
  • Contains 11 ANK repeats.
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 --
genes like me logo Genes that share ontologies with ANKS6: view

Phenotypes for ANKS6 Gene

GenomeRNAi human phenotypes for ANKS6:
genes like me logo Genes that share phenotypes with ANKS6: view

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets 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 2
nucleus 2

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 & Interactions 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 and SIGNOR curated interactions for ANKS6 Gene

Drugs & Compounds for ANKS6 Gene

No Compound Related Data Available

Transcripts for ANKS6 Gene

Unigene Clusters for ANKS6 Gene

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

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 (x4.5) and Brain - Cerebellar Hemisphere (x4.2).

Protein differential expression in normal tissues from HIPED for ANKS6 Gene

This gene is overexpressed in Serum (68.8).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with ANKS6: view

Protein tissue co-expression partners for ANKS6 Gene

- Elite partner

Primer Products

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
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
chimpanzee
(Pan troglodytes)
Mammalia ANKS6 35
  • 99.65 (n)
  • 99.73 (a)
ANKS6 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Anks6 35
  • 83.53 (n)
  • 86.28 (a)
oppossum
(Monodelphis domestica)
Mammalia ANKS6 36
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ANKS6 36
  • 73 (a)
OneToOne
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
tropical clawed frog
(Silurana tropicalis)
Amphibia anks6 35
  • 64.98 (n)
  • 65.69 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.13422 35
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

(5) 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

Variation tolerance for ANKS6 Gene

Residual Variation Intolerance Score: 56.37% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.33; 53.50% of all genes are more intolerant (likely to be disease-causing)

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

MalaCards: The human disease database

(5) MalaCards diseases for ANKS6 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
nephronophthisis 16
  • nphp16
nephronophthisis 4
  • juvenile nephronophthisis
interstitial nephritis
  • renal tubulo-interstitial disease
nephronophthisis
  • medullary cystic kidney disease 1
nephronophthisis 2, infantile
  • nephronophthisis 2
- elite association
Search ANKS6 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for ANKS6

Genetic Association Database (GAD)
ANKS6
Human Genome Epidemiology (HuGE) Navigator
ANKS6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ANKS6
genes like me logo Genes that share disorders with ANKS6: view

No data available for Genatlas for ANKS6 Gene

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 67
  2. The SAM domain of ANKS6 has different interacting partners and mutations can induce different cystic phenotypes. (PMID: 26039630) Bakey Z. … Lelongt B. (Kidney Int. 2015) 67
  3. ANKS6 is the critical activator of NEK8 kinase in embryonic situs determination and organ patterning. (PMID: 25599650) Czarnecki P.G. … Shah J.V. (Nat Commun 2015) 67
  4. Mutations in ANKS6 cause a nephronophthisis-like phenotype with ESRD. (PMID: 24610927) Taskiran E.Z. … Ozaltin F. (J. Am. Soc. Nephrol. 2014) 67
  5. Characterization of the SAM domain of the PKD-related protein ANKS6 and its interaction with ANKS3. (PMID: 24998259) Leettola C.N. … Bowie J.U. (BMC Struct. Biol. 2014) 67

Products for ANKS6 Gene

Sources for ANKS6 Gene

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