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Aliases for ANKS3 Gene

Aliases for ANKS3 Gene

  • Ankyrin Repeat And Sterile Alpha Motif Domain Containing 3 2 3 5
  • KIAA1977 4

External Ids for ANKS3 Gene

Previous GeneCards Identifiers for ANKS3 Gene

  • GC16M004687
  • GC16M004747
  • GC16M004748
  • GC16M004749

Summaries for ANKS3 Gene

GeneCards Summary for ANKS3 Gene

ANKS3 (Ankyrin Repeat And Sterile Alpha Motif Domain Containing 3) is a Protein Coding gene. Diseases associated with ANKS3 include Dextrocardia With Situs Inversus. An important paralog of this gene is ANKS6.

Additional gene information for ANKS3 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ANKS3 Gene

Genomics for ANKS3 Gene

GeneHancer (GH) Regulatory Elements for ANKS3 Gene

Promoters and enhancers for ANKS3 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16I004733 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 563.2 0.0 -17 2.4 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 ZBTB7B YY1 E2F8 ANKS3 C16orf71 ZNF500 CREBBP UBN1 EEF2KMT LOC102724927 MGRN1 GC16P004728 ENSG00000266994
GH16I004536 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 28.4 +196.2 196187 2.6 HDGF PKNOX1 CLOCK FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 CDIP1 C16orf96 ZNF500 NMRAL1 ANKS3 ENSG00000261938 CREBBP EEF2KMT HMOX2 GLIS2-AS1
GH16I004270 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 26.1 +461.7 461663 4.5 HDGF PKNOX1 CLOCK FOXA2 MLX ARNT ZFP64 ARID4B SIN3A FEZF1 TFAP4 GC16P004274 ZNF75A ZNF500 CREBBP ANKS3 ENSG00000261938 TIGD7 CLUAP1 ZNF597
GH16I004368 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 19.9 +360.1 360070 11 PKNOX1 CLOCK FOXA2 ARID4B SIN3A DMAP1 YY1 FOS KLF13 SP3 VASN NMRAL1 ANKS3 CREBBP ZNF500 ZSCAN32 ZNF174 HMOX2 CLUAP1 ENSG00000261938
GH16I004182 Promoter/Enhancer 1.8 Ensembl ENCODE dbSUPER 25.6 +550.6 550590 2.4 HDGF HNRNPUL1 PKNOX1 MLX ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 LOC105371062 GC16P004182 ZNF500 CREBBP ZNF75A ANKS3 ZNF597 ZNF263 MTCO1P28 TIGD7
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ANKS3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ANKS3 gene promoter:

Genomic Locations for ANKS3 Gene

Genomic Locations for ANKS3 Gene
37,869 bases
Minus strand

Genomic View for ANKS3 Gene

Genes around ANKS3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ANKS3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ANKS3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ANKS3 Gene

Proteins for ANKS3 Gene

  • Protein details for ANKS3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Ankyrin repeat and SAM domain-containing protein 3
    Protein Accession:
    Secondary Accessions:
    • B4DWU4
    • D3DUE2
    • Q8TF25

    Protein attributes for ANKS3 Gene

    656 amino acids
    Molecular mass:
    72038 Da
    Quaternary structure:
    • Homooligomer (PubMed:24998259). Interacts with ANKS6 (PubMed:24998259). Interacts with BICC1. Interacts with NPHP1. Interacts with NEK8. Interacts with HIF1AN (By similarity).

    Three dimensional structures from OCA and Proteopedia for ANKS3 Gene

    Alternative splice isoforms for ANKS3 Gene


neXtProt entry for ANKS3 Gene

Post-translational modifications for ANKS3 Gene

No data available for DME Specific Peptides for ANKS3 Gene

Domains & Families for ANKS3 Gene

Gene Families for ANKS3 Gene

Graphical View of Domain Structure for InterPro Entry



  • The SAM domain mediates homooligomerization and interaction with ANKS6.
  • The SAM domain mediates homooligomerization and interaction with ANKS6.
genes like me logo Genes that share domains with ANKS3: view

Function for ANKS3 Gene

Gene Ontology (GO) - Molecular Function for ANKS3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 24998259
genes like me logo Genes that share ontologies with ANKS3: view

Phenotypes for ANKS3 Gene

GenomeRNAi human phenotypes for ANKS3:
genes like me logo Genes that share phenotypes with ANKS3: view

miRNA for ANKS3 Gene

miRTarBase miRNAs that target ANKS3

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ANKS3 Gene

Localization for ANKS3 Gene

Subcellular locations from

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 ANKS3 gene
Compartment Confidence
nucleus 4
cytosol 4

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for ANKS3 Gene

Pathways & Interactions for ANKS3 Gene

SuperPathways for ANKS3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ANKS3 Gene


No data available for Pathways by source and SIGNOR curated interactions for ANKS3 Gene

Drugs & Compounds for ANKS3 Gene

No Compound Related Data Available

Transcripts for ANKS3 Gene

Unigene Clusters for ANKS3 Gene

Ankyrin repeat and sterile alpha motif domain containing 3:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ANKS3 Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c · 7d ^ 8a · 8b · 8c ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b ^ 13a · 13b ^
SP1: - - -
SP3: - - -
SP4: - - -
SP5: - - - -
SP6: - - - - - - - -
SP7: - - - - - - - - -
SP8: - - - - - - - - -
SP9: - - - - - -
SP10: - - - - -
SP11: - - - - - - - -
SP12: - - - - -
SP14: - - - - - - - - - -
SP15: - - - - - - -
SP16: -
SP17: - - -

ExUns: 14 ^ 15a · 15b ^ 16a · 16b ^ 17 ^ 18 ^ 19
SP1: -
SP2: -
SP3: -

Relevant External Links for ANKS3 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ANKS3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ANKS3 Gene

Protein differential expression in normal tissues from HIPED for ANKS3 Gene

This gene is overexpressed in Lung (33.0), Plasma (14.4), Monocytes (12.2), and Tlymphocyte (9.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ANKS3 Gene

Protein tissue co-expression partners for ANKS3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ANKS3 Gene:


SOURCE GeneReport for Unigene cluster for ANKS3 Gene:


Evidence on tissue expression from TISSUES for ANKS3 Gene

  • Nervous system(2.7)
genes like me logo Genes that share expression patterns with ANKS3: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ANKS3 Gene

Orthologs for ANKS3 Gene

This gene was present in the common ancestor of animals.

Orthologs for ANKS3 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ANKS3 33 34
  • 97.35 (n)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 87 (a)
-- 34
  • 66 (a)
(Bos Taurus)
Mammalia ANKS3 33 34
  • 86.7 (n)
(Canis familiaris)
Mammalia ANKS3 33 34
  • 86.02 (n)
(Rattus norvegicus)
Mammalia Anks3 33
  • 83.81 (n)
(Mus musculus)
Mammalia Anks3 33 16 34
  • 82.87 (n)
(Monodelphis domestica)
Mammalia ANKS3 34
  • 76 (a)
(Gallus gallus)
Aves ANKS3 33 34
  • 72.13 (n)
(Anolis carolinensis)
Reptilia ANKS3 34
  • 69 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia anks3 33
  • 64.18 (n)
(Danio rerio)
Actinopterygii zgc:172142 33
  • 62.05 (n)
ANKS3 34
  • 53 (a)
fruit fly
(Drosophila melanogaster)
Insecta m-cup 34
  • 12 (a)
(Caenorhabditis elegans)
Secernentea CELE_Y39C12A.1 33
  • 44.52 (n)
Y39C12A.1 34
  • 29 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 42 (a)
Species where no ortholog for ANKS3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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 ANKS3 Gene

Gene Tree for ANKS3 (if available)
Gene Tree for ANKS3 (if available)

Paralogs for ANKS3 Gene

Variants for ANKS3 Gene

Sequence variations from dbSNP and Humsavar for ANKS3 Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs1057519332 uncertain-significance, not provided 4,726,711(-) G/A/T 5_prime_UTR_variant, coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs1000014433 -- 4,723,678(-) T/C intron_variant
rs1000022640 -- 4,701,709(-) G/C intron_variant
rs1000036840 -- 4,712,817(-) G/T intron_variant
rs1000086207 -- 4,735,769(-) G/T upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for ANKS3 Gene

Variant ID Type Subtype PubMed ID
esv2664089 CNV deletion 23128226
esv2668934 CNV deletion 23128226
esv33706 CNV gain 17666407
esv3553044 CNV deletion 23714750
esv3637700 CNV loss 21293372
esv3637701 CNV loss 21293372
esv8161 CNV loss 19470904
nsv1046986 CNV gain 25217958
nsv1050237 CNV loss 25217958
nsv1160333 CNV deletion 26073780
nsv435669 CNV deletion 17901297
nsv512421 CNV loss 21212237
nsv571302 CNV gain 21841781

Variation tolerance for ANKS3 Gene

Residual Variation Intolerance Score: 82.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.26; 62.46% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ANKS3 Gene

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

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ANKS3 Gene

Disorders for ANKS3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ANKS3 Gene - From: Orphanet

Disorder Aliases PubMed IDs
dextrocardia with situs inversus
  • situs inversus
- elite association - COSMIC cancer census association via MalaCards
Search ANKS3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ANKS3

genes like me logo Genes that share disorders with ANKS3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ANKS3 Gene

Publications for ANKS3 Gene

  1. Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins. (PMID: 11853319) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2001) 2 3 4 58
  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 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. An organelle-specific protein landscape identifies novel diseases and molecular mechanisms. (PMID: 27173435) Boldt K … UK10K Rare Diseases Group (Nature communications 2016) 3 58

Products for ANKS3 Gene

Sources for ANKS3 Gene

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