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Aliases for ANKS6 Gene

Aliases for ANKS6 Gene

  • Ankyrin Repeat And Sterile Alpha Motif Domain Containing 6 2 3 5
  • 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
  • Ankyrin Repeat And SAM Domain-Containing Protein 6 3
  • 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 2, Infantile. GO annotations related to this gene include protein homodimerization activity. An important paralog of this gene is KIDINS220.

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

Enhancers for ANKS6 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09F098806 0.6 FANTOM5 ENCODE 14.6 -12.2 -12198 5.1 ATF1 PKNOX1 FEZF1 ZNF121 GLIS2 FOS SP3 PBX2 HMBOX1 SP7 ANKS6 GALNT12 GC09P098862
GH09F098777 1.1 Ensembl ENCODE 14.6 +15.5 15499 7.5 BCOR KLF1 ZMYM3 E2F1 ZNF316 POLR2A RCOR1 NR2F6 NFE2 MAFK ANKS6 GABBR2
GH09F098790 0.7 Ensembl ENCODE 12.6 +5.5 5474 1.9 SIN3A ZNF2 ZNF143 FOS KLF13 DEK SP3 REST SMARCB1 SMARCA4 ANKS6 GABBR2
GH09F098795 0.5 ENCODE 12.2 +0.6 597 1.6 ELK1 EGR1 ZNF143 CREM SMARCA5 HCFC1 ZBTB11 USF2 HDAC8 CREB3 ANKS6 GABBR2
GH09F098805 1 Ensembl ENCODE 11.9 -8.9 -8881 0.9 ZFHX2 GATA3 HLF PBX2 CEBPB FOS EGR2 ANKS6 GALNT12
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around ANKS6 on UCSC Golden Path with GeneCards custom track

Promoters for ANKS6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001309812 465 1401 ELK1 EGR1 ZNF143 CREM HCFC1 ZBTB11 USF2 HDAC8 CREB3 SREBF1

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

Genes around ANKS6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ANKS6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    • Homooligomer (By similarity). Central component of a complex containing at least ANKS6, INVS, NEK8 and NPHP3. ANKS6 may organize complex assembly by linking INVS and NPHP3 to NEK8 and INVS may target the complex to the proximal ciliary axoneme (PubMed:23793029). Interacts (via SAM domain) with BICC1 (via KH domains) in an RNA-dependent manner (By similarity). Interacts with ANKS3 (PubMed:24998259).
    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

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

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 are necessary and sufficient for NEK8-binding.
  • Contains 11 ANK repeats.
Domain:
  • The ankyrin repeats are necessary and sufficient for NEK8-binding.
  • The SAM domain mediates interaction with the SAM domain of ANKS3.
  • 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 IPI 24998259
genes like me logo Genes that share ontologies with ANKS6: view
genes like me logo Genes that share phenotypes with ANKS6: view

Human Phenotype Ontology for ANKS6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ANKS6 Gene

MGI Knock Outs for ANKS6:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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 UniProtKB:Q6GQX6}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ANKS6 Gene COMPARTMENTS Subcellular localization image for ANKS6 gene
Compartment Confidence
cytosol 2
nucleus 2
endoplasmic reticulum 1
mitochondrion 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 --
GO:0042995 cell projection 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

Transcripts for ANKS6 Gene

Unigene Clusters for ANKS6 Gene

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

Inhibitory RNA Products

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 (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, MaxQB, and MOPED for ANKS6 Gene



Protein tissue co-expression partners for ANKS6 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ANKS6 Gene:

ANKS6

SOURCE GeneReport for Unigene cluster for ANKS6 Gene:

Hs.406890
genes like me logo Genes that share expression patterns with ANKS6: view

Primer 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 34 35
  • 99.65 (n)
dog
(Canis familiaris)
Mammalia ANKS6 34 35
  • 89.05 (n)
cow
(Bos Taurus)
Mammalia ANKS6 34 35
  • 88.24 (n)
mouse
(Mus musculus)
Mammalia Anks6 34 16 35
  • 84.43 (n)
rat
(Rattus norvegicus)
Mammalia Anks6 34
  • 83.53 (n)
oppossum
(Monodelphis domestica)
Mammalia ANKS6 35
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ANKS6 35
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves ANKS6 34 35
  • 69.12 (n)
lizard
(Anolis carolinensis)
Reptilia ANKS6 35
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia anks6 34
  • 64.98 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.13422 34
zebrafish
(Danio rerio)
Actinopterygii si:dkey-145p14.5 35
  • 20 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG42534 35
  • 11 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea nphp-2 35
  • 15 (a)
OneToMany
Species where no ortholog for ANKS6 was found in the sources mined by GeneCards:
  • 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

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
rs377750405 Nephronophthisis 16 (NPHP16) [MIM:615382], Pathogenic 98,780,235(+) AGGGC(C/T)GTCGG nc-transcript-variant, reference, missense
VAR_070106 Nephronophthisis 16 (NPHP16) [MIM:615382]
rs397514257 Pathogenic 98,768,253(+) CACCT(C/G)AGGAA intron-variant
rs397514258 Pathogenic 98,736,625(-) TCCAC(A/C)GGGAC splice-acceptor-variant
rs587777024 Pathogenic 98,768,159(+) ACAGG(-/GCTTGACCGAT)GGCTG nc-transcript-variant, reference, frameshift-variant

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

Variant ID Type Subtype PubMed ID
esv3621214 CNV gain 21293372
esv989098 CNV loss 20482838
nsv614936 CNV gain 21841781

Variation tolerance for ANKS6 Gene

Residual Variation Intolerance Score: 56.4% 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

Human Gene Mutation Database (HGMD)
ANKS6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ANKS6

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

Disorders for ANKS6 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
nephronophthisis 16
  • nphp16
nephronophthisis 2, infantile
  • nephronophthisis 2
nephronophthisis 4
  • nephronophthisis
interstitial nephritis
  • renal tubulo-interstitial disease
nephronophthisis
  • medullary cystic kidney disease 1
- elite association - COSMIC cancer census association via MalaCards
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 3 4 64
  2. 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) 3 4 64
  3. 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 64
  4. Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts. (PMID: 18978678) Vieira A.R. … Marazita M.L. (Genet. Med. 2008) 3 46 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for ANKS6 Gene

Sources for ANKS6 Gene

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