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,... See more...

Aliases for ANKS6 Gene

Aliases for ANKS6 Gene

  • Ankyrin Repeat And Sterile Alpha Motif Domain Containing 6 2 3 5
  • Ankyrin Repeat And SAM Domain-Containing Protein 6 3 4
  • 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 Juvenile Nephronophthisis. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity. An important paralog of this gene is BICC1.

UniProtKB/Swiss-Prot Summary for ANKS6 Gene

Additional gene information for ANKS6 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ANKS6 Gene

Genomics for ANKS6 Gene

GeneHancer (GH) Regulatory Elements for ANKS6 Gene

Promoters and enhancers for ANKS6 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J098795 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 512.1 +0.6 565 2.8 CTCF NRF1 PHF8 ZFX ZBTB11 ZBTB26 TARDBP MYC CTBP1 MXI1 ANKS6 piR-42694-173 piR-61945-511 LOC102724684
GH09J098117 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 21.5 +676.8 676762 5.6 HNRNPK ZNF217 CTCF SIN3A POLR2G NCOR1 PHF8 ZFX ZNF354C ZIC2 TRIM14 TSTD2 NCBP1 CORO2A ANKS6 CCDC180 ZNF322P1 LOC105376171 XPA TBC1D2
GH09J098805 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 14.7 -11.6 -11644 6.4 CTCF NRF1 JUND FOS ZFX ZNF639 ZIC2 ZNF423 GABPA HES1 GALNT12 ENSG00000285706 ANKS6 lnc-GALNT12-1 LOC102724684
GH09J098097 Promoter/Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 11.4 +692.9 692927 13.3 SP1 EP300 RELA TRIM22 POLR2A BCL11A TCF12 WT1 ZNF316 CBFB NANS ANKS6 TBC1D2 CCDC180 TRIM14 TRMO FJ601663 RF00017-7763 L13712-030 RF00017-7758
GH09J098790 Enhancer 1.2 ENCODE CraniofacialAtlas dbSUPER 12.7 +5.4 5412 1.8 ZNF217 CTCF JUND FOS TEAD4 REST MYC RUNX1 RAD21 CTBP1 ANKS6 piR-61945-511 LOC102724684
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ANKS6 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ANKS6

Top Transcription factor binding sites by QIAGEN in the ANKS6 gene promoter:
  • AP-2alpha
  • AP-2alphaA
  • AP-2beta
  • AP-2gamma
  • ATF-2
  • CRE-BP1
  • Lmo2
  • MyoD
  • ZIC2

Genomic Locations for ANKS6 Gene

Genomic Locations for ANKS6 Gene
chr9:98,731,329-98,796,965
(GRCh38/hg38)
Size:
65,637 bases
Orientation:
Minus strand
chr9:101,493,611-101,559,247
(GRCh37/hg19)
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 (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 (PubMed:23793029). Interacts (via SAM domain) with BICC1 (via KH domains) in an RNA-dependent manner (By similarity). Interacts (via SAM domain) with ANKS3 (via SAM domain) (PubMed:24998259).
    SequenceCaution:
    • Sequence=AAH64367.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAC04317.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=CAH18298.1; Type=Erroneous initiation; Note=Truncated N-terminus.; 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

Gene Families for ANKS6 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for ANKS6 Gene

Blocks:
  • Sterile alpha motif SAM
  • Sterile alpha motif homology 2
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ANKS6 Gene

GenScript: Design optimal peptide antigens:
  • Sterile alpha motif domain-containing protein 6 (ANKS6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q68DC2

UniProtKB/Swiss-Prot:

ANKS6_HUMAN :
  • The ankyrin repeats are necessary and sufficient for NEK8-binding.
Domain:
  • The ankyrin repeats are necessary and sufficient for NEK8-binding.
  • The SAM domain mediates interaction with the SAM domain of ANKS3.
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.

Phenotypes From GWAS Catalog for ANKS6 Gene

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:
  • Anks6 Anks6<tm1b(KOMP)Wtsi>

Animal Model Products

CRISPR Products

Clone 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ANKS6 gene
Compartment Confidence
nucleus 3
mitochondrion 2
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoli (2)
  • Nucleoplasm (2)
See all subcellular structures

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

PathCards logo

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

mRNA/cDNA for ANKS6 Gene

1 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone 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

Expression for ANKS6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for ANKS6 Gene



Protein tissue co-expression partners for ANKS6 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ANKS6

SOURCE GeneReport for Unigene cluster for ANKS6 Gene:

Hs.406890

Evidence on tissue expression from TISSUES for ANKS6 Gene

  • Nervous system(4.4)
  • Skin(4.1)
  • Kidney(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ANKS6 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • urinary
Regions:
Head and neck:
  • eye
  • head
  • mouth
Abdomen:
  • abdominal wall
  • biliary tract
  • gallbladder
  • kidney
  • liver
  • pancreas
Pelvis:
  • ureter
  • urinary bladder
General:
  • skin
genes like me logo Genes that share expression patterns with ANKS6: view

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 31 30
  • 99.65 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ANKS6 31 30
  • 89.05 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ANKS6 31 30
  • 88.24 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Anks6 17 31 30
  • 84.43 (n)
rat
(Rattus norvegicus)
Mammalia Anks6 30
  • 83.53 (n)
oppossum
(Monodelphis domestica)
Mammalia ANKS6 31
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ANKS6 31
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves ANKS6 31 30
  • 69.12 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ANKS6 31
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia anks6 30
  • 64.98 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.13422 30
zebrafish
(Danio rerio)
Actinopterygii si:dkey-145p14.5 31
  • 20 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG42534 31
  • 11 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea nphp-2 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ANKS6: view image

Paralogs for ANKS6 Gene

Paralogs for ANKS6 Gene

(5) SIMAP similar genes for ANKS6 Gene using alignment to 4 proteins:

  • ANKS6_HUMAN
  • F5H7X9_HUMAN
  • H7C163_HUMAN
  • L8E994_HUMAN
genes like me logo Genes that share paralogs with ANKS6: view

Variants for ANKS6 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ANKS6 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
638870 Uncertain Significance: Nephronophthisis 16 98,756,479(-) G/A MISSENSE_VARIANT
640676 Uncertain Significance: Nephronophthisis 16 98,745,567(-) C/T MISSENSE_VARIANT
641730 Uncertain Significance: Nephronophthisis 16 98,790,302(-) G/C MISSENSE_VARIANT
641802 Uncertain Significance: Nephronophthisis 16 98,780,343(-) G/A INTRON_VARIANT
658948 Uncertain Significance: Nephronophthisis 16 98,790,542(-) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for ANKS6 Gene

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)

Additional Variant Information for ANKS6 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for ANKS6 Gene

MalaCards: The human disease database

(14) MalaCards diseases for ANKS6 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
nephronophthisis 16
  • nphp16
juvenile nephronophthisis
  • nephronophthisis, familial juvenile
infantile nephronophthisis
  • nephronophthisis 2
nephronophthisis
  • medullary cystic disease
interstitial nephritis
  • renal tubulo-interstitial disease
- 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.

Additional Disease Information for ANKS6

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 SS (Nature genetics 2013) 2 3 4 54
  2. Characterization of the SAM domain of the PKD-related protein ANKS6 and its interaction with ANKS3. (PMID: 24998259) Leettola CN … Bowie JU (BMC structural biology 2014) 3 4 54
  3. Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts. (PMID: 18978678) Vieira AR … Marazita ML (Genetics in medicine : official journal of the American College of Medical Genetics 2008) 3 41 54
  4. Genomic organization and mutation screening of the human ortholog of Pkdr1 associated with polycystic kidney disease in the rat. (PMID: 18434273) Kaisaki PJ … Bihoreau MT (European journal of medical genetics 2008) 3 4 54
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54

Products for ANKS6 Gene

Sources for ANKS6 Gene