Aliases for ANKS3 Gene

Aliases for ANKS3 Gene

  • Ankyrin Repeat And Sterile Alpha Motif Domain Containing 3 2 3 5
  • Ankyrin Repeat And SAM Domain-Containing Protein 3 3 4
  • KIAA1977 2 4
  • FLJ32345 2
  • FLJ32767 2
  • ANKS3 5

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 and Nephronophthisis 16.

UniProtKB/Swiss-Prot Summary for ANKS3 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ANKS3 Gene

Genomics for ANKS3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ANKS3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ANKS3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ANKS3

Top Transcription factor binding sites by QIAGEN in the ANKS3 gene promoter:
  • ATF6
  • HEN1
  • HTF
  • MEF-2A
  • POU2F1
  • POU2F1a
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c
  • STAT5A

Genomic Locations for ANKS3 Gene

Genomic Locations for ANKS3 Gene
chr16:4,696,510-4,734,378
(GRCh38/hg38)
Size:
37,869 bases
Orientation:
Minus strand
chr16:4,746,511-4,784,379
(GRCh37/hg19)
Size:
37,869 bases
Orientation:
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:
    Q6ZW76-ANKS3_HUMAN
    Recommended name:
    Ankyrin repeat and SAM domain-containing protein 3
    Protein Accession:
    Q6ZW76
    Secondary Accessions:
    • B4DWU4
    • D3DUE2
    • Q8TF25

    Protein attributes for ANKS3 Gene

    Size:
    656 amino acids
    Molecular mass:
    72038 Da
    Quaternary structure:
    • Homooligomer (PubMed:24998259). Interacts (via SAM domain) with ANKS6 (via SAM domain) (PubMed:24998259). Interacts with BICC1 (By similarity). Interacts with NPHP1 (By similarity). Interacts with NEK8 (By similarity). Interacts with HIF1AN (By similarity). Interacts with NEK7; this interaction alters the subcellular distribution of NEK7 by preventing its nuclear translocation (PubMed:26188091).

    Three dimensional structures from OCA and Proteopedia for ANKS3 Gene

    Alternative splice isoforms for ANKS3 Gene

    UniProtKB/Swiss-Prot:

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

Protein Domains for ANKS3 Gene

InterPro:
Blocks:
  • Ankyrin repeat signature
  • Sterile alpha motif SAM
ProtoNet:

Suggested Antigen Peptide Sequences for ANKS3 Gene

GenScript: Design optimal peptide antigens:
  • Ankyrin repeat and SAM domain-containing protein 3 (ANKS3_HUMAN)
  • Ankyrin repeat and sterile alpha motif domain containing 3, isoform CRA_a (D3DUE4_HUMAN)
  • cDNA FLJ41377 fis, clone BRCAN2008528 (Q6ZWA7_HUMAN)
  • ANKS3 protein (Q86W77_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6ZW76

UniProtKB/Swiss-Prot:

ANKS3_HUMAN :
  • The SAM domain mediates homooligomerization.
Domain:
  • The SAM domain mediates homooligomerization.
genes like me logo Genes that share domains with ANKS3: view

Function for ANKS3 Gene

Molecular function for ANKS3 Gene

UniProtKB/Swiss-Prot Function:
May be involved in vasopressin signaling in the kidney.

Phenotypes From GWAS Catalog for ANKS3 Gene

Gene Ontology (GO) - Molecular Function for ANKS3 Gene

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

Animal Model Products

CRISPR Products

miRNA for ANKS3 Gene

miRTarBase miRNAs that target ANKS3

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ANKS3

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ANKS3 Gene

Localization for ANKS3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ANKS3 Gene

Cell projection, cilium. Cytoplasm.

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 ANKS3 gene
Compartment Confidence
nucleus 3
cytosol 3
cytoskeleton 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for ANKS3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm ISS --
GO:0005929 cilium IEA --
GO:0042995 cell projection IEA --
genes like me logo Genes that share ontologies with ANKS3: view

Pathways & Interactions for ANKS3 Gene

PathCards logo

SuperPathways for ANKS3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ANKS3 Gene

None

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

mRNA/cDNA for ANKS3 Gene

5 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
30 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 ANKS3

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: - - -
SP2:
SP3: - - -
SP4: - - -
SP5: - - - -
SP6: - - - - - - - -
SP7: - - - - - - - - -
SP8: - - - - - - - - -
SP9: - - - - - -
SP10: - - - - -
SP11: - - - - - - - -
SP12: - - - - -
SP13:
SP14: - - - - - - - - - -
SP15: - - - - - - -
SP16: -
SP17: - - -
SP18:

ExUns: 14 ^ 15a · 15b ^ 16a · 16b ^ 17 ^ 18 ^ 19
SP1: -
SP2: -
SP3: -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:

Relevant External Links for ANKS3 Gene

GeneLoc Exon Structure for
ANKS3

Expression for ANKS3 Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

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, MaxQB, and MOPED for ANKS3 Gene



Protein tissue co-expression partners for ANKS3 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ANKS3

SOURCE GeneReport for Unigene cluster for ANKS3 Gene:

Hs.654859

Evidence on tissue expression from TISSUES for ANKS3 Gene

  • Nervous system(4.5)
  • Kidney(2.2)
genes like me logo Genes that share expression patterns with ANKS3: view

No data available for 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
Chimpanzee
(Pan troglodytes)
Mammalia ANKS3 30 31
  • 97.35 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 87 (a)
OneToMany
-- 31
  • 66 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia ANKS3 30 31
  • 86.7 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ANKS3 30 31
  • 86.02 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Anks3 30
  • 83.81 (n)
Mouse
(Mus musculus)
Mammalia Anks3 30 17 31
  • 82.87 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ANKS3 31
  • 76 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ANKS3 30 31
  • 72.13 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ANKS3 31
  • 69 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia anks3 30
  • 64.18 (n)
Zebrafish
(Danio rerio)
Actinopterygii zgc:172142 30
  • 62.05 (n)
ANKS3 31
  • 53 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta m-cup 31
  • 12 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea CELE_Y39C12A.1 30
  • 44.52 (n)
Y39C12A.1 31
  • 29 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 42 (a)
OneToOne
Species where no ortholog for ANKS3 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 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

ENSEMBL:
Gene Tree for ANKS3 (if available)
TreeFam:
Gene Tree for ANKS3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ANKS3: view image

Paralogs for ANKS3 Gene

(7) SIMAP similar genes for ANKS3 Gene using alignment to 18 proteins:

  • ANKS3_HUMAN
  • D3DUE4_HUMAN
  • K7EJS9_HUMAN
  • K7EJX3_HUMAN
  • K7EJY2_HUMAN
  • K7EKD2_HUMAN
  • K7ELP3_HUMAN
  • K7ELU8_HUMAN
  • K7EM53_HUMAN
  • K7EPL7_HUMAN
  • K7EPP4_HUMAN
  • K7EPY5_HUMAN
  • K7EQE0_HUMAN
  • K7ERF3_HUMAN
  • K7ERR7_HUMAN
  • K7ERY3_HUMAN
  • Q6ZWA7_HUMAN
  • Q86W77_HUMAN
genes like me logo Genes that share paralogs with ANKS3: view

No data available for Paralogs for ANKS3 Gene

Variants for ANKS3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ANKS3 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
709310 Benign: not provided 4,702,127(-) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
718366 Benign: not provided 4,730,108(-) C/G NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT
775368 Benign: not provided 4,698,032(-) C/G NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
775369 Benign: not provided 4,701,123(-) A/G NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
785523 Benign: not provided 4,730,076(-) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for ANKS3 Gene

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)
ANKS3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ANKS3

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

(5) MalaCards diseases for ANKS3 Gene - From: Orphanet and DISEASES

Disorder Aliases PubMed IDs
dextrocardia with situs inversus
  • situs inversus
nephronophthisis 16
  • nphp16
meckel syndrome, type 1
  • mks1
nephronophthisis
  • medullary cystic disease
cystic kidney disease
  • renal cyst
- elite association - COSMIC cancer census association via MalaCards
Search ANKS3 in MalaCards View complete list of genes associated with diseases
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
  2. Anks3 alters the sub-cellular localization of the Nek7 kinase. (PMID: 26188091) Ramachandran H … Yakulov TA (Biochemical and biophysical research communications 2015) 3 4
  3. 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
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. RNA-binding activity of TRIM25 is mediated by its PRY/SPRY domain and is required for ubiquitination. (PMID: 29117863) Choudhury NR … Michlewski G (BMC biology 2017) 3

Products for ANKS3 Gene

Sources for ANKS3 Gene