Aliases for ANKRD6 Gene

Aliases for ANKRD6 Gene

  • Ankyrin Repeat Domain 6 2 3 5
  • Diversin 2 3 4
  • Ankyrin Repeat Domain-Containing Protein 6 3 4
  • KIAA0957 2 4
  • Epididymis Secretory Sperm Binding Protein 3
  • Diego Homolog (Drosophila) 2
  • Diego Homolog 3
  • ANKRD6 5

External Ids for ANKRD6 Gene

Previous GeneCards Identifiers for ANKRD6 Gene

  • GC06P090222
  • GC06P090093
  • GC06P090138
  • GC06P090199
  • GC06P090142
  • GC06P087360

Summaries for ANKRD6 Gene

GeneCards Summary for ANKRD6 Gene

ANKRD6 (Ankyrin Repeat Domain 6) is a Protein Coding gene. Diseases associated with ANKRD6 include Neural Tube Defects and Ocular Motility Disease. An important paralog of this gene is ANKRD10.

UniProtKB/Swiss-Prot Summary for ANKRD6 Gene

  • Recruits CKI-epsilon to the beta-catenin degradation complex that consists of AXN1 or AXN2 and GSK3-beta and allows efficient phosphorylation of beta-catenin, thereby inhibiting beta-catenin/Tcf signals.

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ANKRD6 Gene

Genomics for ANKRD6 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ANKRD6 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
GH06J089432 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 +0.1 149 2.2 BRCA1 CTCF PRDM10 ZNF692 BACH1 LARP7 ZNF143 ZIC2 POLR2A PATZ1 ANKRD6 LYRM2 CASP8AP2 ENSG00000237027 PM20D2 MDN1 piR-41195-031
GH06J089536 Promoter/Enhancer 0.8 EPDnew Ensembl 611.5 +103.2 103248 0.4 CTCF ZSCAN4 ZNF600 RAD21 ANKRD6 ENSG00000237027 RF00994-924 piR-50391-015 LYRM2
GH06J089345 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 9.8 -82.9 -82896 8.6 ZNF221 HNRNPL CREB1 ZBTB33 PRDM10 ZNF629 REST SOX13 KDM1A ZNF692 UBE2J1 CASP8AP2 SRSF12 RRAGD GABRR2 TUBB3P1 MDN1 PNRC1 ANKRD6 RNGTT
GH06J089409 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 10.7 -21.8 -21751 4.4 ZNF221 PRDM10 ZNF692 BACH1 LARP7 PRDM1 ZIC2 ZSCAN4 POLR2A PATZ1 RRAGD CASP8AP2 LYRM2 MDN1 ANKRD6 PM20D2 SRSF12 ENSG00000237027 piR-30306-015 UBE2J1
GH06J089828 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 9.7 +396.6 396649 3.2 SP1 HNRNPL CREB1 PRDM10 ZNF692 POLR2A RCOR2 BACH1 FOS LARP7 CASP8AP2 MDN1 NONHSAG044346.2 MAP3K7 ANKRD6 LYRM2 RF00017-5676 lnc-LYRM2-2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ANKRD6 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ANKRD6

Top Transcription factor binding sites by QIAGEN in the ANKRD6 gene promoter:
  • AP-1
  • ATF-2
  • c-Fos
  • c-Jun
  • COUP
  • COUP-TF
  • COUP-TF1
  • HNF-4alpha1
  • HNF-4alpha2

Genomic Locations for ANKRD6 Gene

Genomic Locations for ANKRD6 Gene
chr6:89,433,152-89,633,834
(GRCh38/hg38)
Size:
200,683 bases
Orientation:
Plus strand
chr6:90,142,889-90,343,553
(GRCh37/hg19)
Size:
200,665 bases
Orientation:
Plus strand

Genomic View for ANKRD6 Gene

Genes around ANKRD6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ANKRD6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ANKRD6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ANKRD6 Gene

Proteins for ANKRD6 Gene

  • Protein details for ANKRD6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y2G4-ANKR6_HUMAN
    Recommended name:
    Ankyrin repeat domain-containing protein 6
    Protein Accession:
    Q9Y2G4
    Secondary Accessions:
    • B3KUC3
    • Q5JUJ4
    • Q5JUJ5
    • Q8IUQ8
    • Q9NU24
    • Q9UFQ9

    Protein attributes for ANKRD6 Gene

    Size:
    727 amino acids
    Molecular mass:
    79971 Da
    Quaternary structure:
    • Interacts with AXN1, AXN2 and CSNK1E/CKI-epsilon.
    SequenceCaution:
    • Sequence=BAA76801.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for ANKRD6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ANKRD6 Gene

Post-translational modifications for ANKRD6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ANKRD6 Gene

Domains & Families for ANKRD6 Gene

Gene Families for ANKRD6 Gene

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

Protein Domains for ANKRD6 Gene

InterPro:
Blocks:
  • Ankyrin repeat signature
ProtoNet:

Suggested Antigen Peptide Sequences for ANKRD6 Gene

GenScript: Design optimal peptide antigens:
  • Diversin (ANKR6_HUMAN)
  • cDNA FLJ39548 fis, clone PUAEN2010824, highly similar to Ankyrin repeat domain-containing protein 6 (B3KUC3_HUMAN)
  • ANKRD6 protein (Q9BVM3_HUMAN)
genes like me logo Genes that share domains with ANKRD6: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ANKRD6 Gene

Function for ANKRD6 Gene

Molecular function for ANKRD6 Gene

UniProtKB/Swiss-Prot Function:
Recruits CKI-epsilon to the beta-catenin degradation complex that consists of AXN1 or AXN2 and GSK3-beta and allows efficient phosphorylation of beta-catenin, thereby inhibiting beta-catenin/Tcf signals.

Phenotypes From GWAS Catalog for ANKRD6 Gene

Gene Ontology (GO) - Molecular Function for ANKRD6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with ANKRD6: view
genes like me logo Genes that share phenotypes with ANKRD6: view

Animal Models for ANKRD6 Gene

MGI Knock Outs for ANKRD6:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ANKRD6

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ANKRD6 Gene

Localization for ANKRD6 Gene

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 ANKRD6 gene
Compartment Confidence
nucleus 4
cytoskeleton 2
cytosol 2
plasma membrane 1
extracellular 1
endoplasmic reticulum 1
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ANKRD6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
GO:0005737 cytoplasm IBA 21873635
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with ANKRD6: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for ANKRD6 Gene

Pathways & Interactions for ANKRD6 Gene

PathCards logo

SuperPathways for ANKRD6 Gene

No Data Available

SIGNOR curated interactions for ANKRD6 Gene

Activates:

Gene Ontology (GO) - Biological Process for ANKRD6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0046330 positive regulation of JNK cascade IBA 21873635
GO:0090090 negative regulation of canonical Wnt signaling pathway IBA 21873635
GO:2000096 positive regulation of Wnt signaling pathway, planar cell polarity pathway IEA --
genes like me logo Genes that share ontologies with ANKRD6: view

No data available for Pathways by source for ANKRD6 Gene

Drugs & Compounds for ANKRD6 Gene

No Compound Related Data Available

Transcripts for ANKRD6 Gene

mRNA/cDNA for ANKRD6 Gene

5 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
22 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ANKRD6

Alternative Splicing Database (ASD) splice patterns (SP) for ANKRD6 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b · 7c ^ 8a · 8b ^ 9a · 9b · 9c · 9d ^ 10a · 10b ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15a ·
SP1: - - - - - - - - - -
SP2: - - -
SP3: - - - - - -
SP4: - - -
SP5:
SP6:
SP7: -
SP8: - - - -
SP9:
SP10: - - - - - - - - - - - - - - -
SP11: - -
SP12:
SP13: - - -
SP14: -
SP15: - - - - - -

ExUns: 15b · 15c ^ 16a · 16b ^ 17 ^ 18a · 18b ^ 19a · 19b ^ 20 ^ 21a · 21b · 21c ^ 22a · 22b · 22c
SP1: - - - -
SP2: - - - -
SP3: - - - -
SP4: - - -
SP5: - -
SP6: - -
SP7:
SP8:
SP9:
SP10: - -
SP11: -
SP12: -
SP13:
SP14:
SP15:

Relevant External Links for ANKRD6 Gene

GeneLoc Exon Structure for
ANKRD6

Expression for ANKRD6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ANKRD6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ANKRD6 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x4.5) and Brain - Cerebellum (x4.5).

Protein differential expression in normal tissues from HIPED for ANKRD6 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ANKRD6 Gene



Protein tissue co-expression partners for ANKRD6 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ANKRD6

SOURCE GeneReport for Unigene cluster for ANKRD6 Gene:

Hs.702213

Evidence on tissue expression from TISSUES for ANKRD6 Gene

  • Nervous system(4.7)
genes like me logo Genes that share expression patterns with ANKRD6: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ANKRD6 Gene

Orthologs for ANKRD6 Gene

This gene was present in the common ancestor of animals.

Orthologs for ANKRD6 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ANKRD6 30 31
  • 99.54 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ANKRD6 30 31
  • 90.92 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ANKRD6 30 31
  • 89.43 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ankrd6 30 17 31
  • 84.93 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ankrd6 30
  • 84.43 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia ANKRD6 31
  • 80 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ANKRD6 31
  • 74 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ANKRD6 30 31
  • 73.34 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ANKRD6 31
  • 68 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ankrd6 30
  • 66.53 (n)
Zebrafish
(Danio rerio)
Actinopterygii ankrd6b 30 31
  • 60.23 (n)
OneToMany
ankrd6a 31
  • 40 (a)
OneToMany
ankrd6 30
Fruit Fly
(Drosophila melanogaster)
Insecta dgo 31
  • 17 (a)
OneToOne
Species where no ortholog for ANKRD6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 Vase (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)
  • Worm (Caenorhabditis elegans)

Evolution for ANKRD6 Gene

ENSEMBL:
Gene Tree for ANKRD6 (if available)
TreeFam:
Gene Tree for ANKRD6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ANKRD6: view image

Paralogs for ANKRD6 Gene

Paralogs for ANKRD6 Gene

(36) SIMAP similar genes for ANKRD6 Gene using alignment to 12 proteins:

  • ANKR6_HUMAN
  • E5RH98_HUMAN
  • E5RIJ4_HUMAN
  • E5RIN9_HUMAN
  • E5RIS1_HUMAN
  • E5RJ05_HUMAN
  • E5RJ45_HUMAN
  • E5RJR9_HUMAN
  • H0YBG4_HUMAN
  • H0YBH4_HUMAN
  • H0YBW6_HUMAN
  • Q9BVM3_HUMAN
genes like me logo Genes that share paralogs with ANKRD6: view

Variants for ANKRD6 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ANKRD6 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
709411 Benign: not provided 89,627,583(+) A/C MISSENSE_VARIANT
709412 Benign: not provided 89,630,926(+) G/A SYNONYMOUS_VARIANT
717855 Benign: not provided 89,630,728(+) C/T SYNONYMOUS_VARIANT
730565 Likely Benign: not provided 89,630,735(+) A/G MISSENSE_VARIANT
784092 Benign: not provided 89,606,057(+) A/G SYNONYMOUS_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for ANKRD6 Gene

Structural Variations from Database of Genomic Variants (DGV) for ANKRD6 Gene

Variant ID Type Subtype PubMed ID
dgv6089n100 CNV gain 25217958
esv2667529 CNV deletion 23128226
esv2732410 CNV deletion 23290073
esv2732411 CNV deletion 23290073
esv3609900 CNV loss 21293372
esv3609901 CNV gain 21293372
esv3609902 CNV gain 21293372
esv3609903 CNV gain 21293372
esv3609904 CNV gain 21293372
esv3609906 CNV loss 21293372
esv3890901 CNV gain 25118596
esv3890902 CNV loss 25118596
esv3890903 CNV gain 25118596
nsv1027007 CNV gain 25217958
nsv1073997 CNV deletion 25765185
nsv604124 CNV loss 21841781
nsv965747 CNV duplication 23825009

Variation tolerance for ANKRD6 Gene

Residual Variation Intolerance Score: 77.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.41; 81.84% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ANKRD6 Gene

Human Gene Mutation Database (HGMD)
ANKRD6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ANKRD6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ANKRD6 Gene

Disorders for ANKRD6 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ANKRD6 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
neural tube defects
  • neural tube defects, susceptibility to
ocular motility disease
  • disorder of eye movements
strabismus
  • strabismus, susceptibility to
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ANKRD6

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with ANKRD6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ANKRD6 Gene

Publications for ANKRD6 Gene

  1. Ankrd6 is a mammalian functional homolog of Drosophila planar cell polarity gene diego and regulates coordinated cellular orientation in the mouse inner ear. (PMID: 25218921) Jones C … Chen P (Developmental biology 2014) 2 3
  2. Combined analysis of three genome-wide association studies on vWF and FVIII plasma levels. (PMID: 21810271) Antoni G … Tregouet DA (BMC medical genetics 2011) 3 41
  3. The planar cell polarity (PCP) protein Diversin translocates to the nucleus to interact with the transcription factor AF9. (PMID: 19591803) Haribaskar R … Schäfer T (Biochemical and biophysical research communications 2009) 3 23
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall AJ … Beck S (Nature 2003) 3 4

Products for ANKRD6 Gene

Sources for ANKRD6 Gene