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ANKS3 Gene(Protein Coding)

Ankyrin Repeat And Sterile Alpha Motif Domain Containing 3

GCID:
GC16M004696
GIFtS:
45
Genes Participants
UDN Logo

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. An important paralog of this gene is KIDINS220.

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

Products:

  1. Regulatory Element

Regulatory Elements for ANKS3 Gene

Enhancers for ANKS3 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
GH16G004765 1.5 FANTOM5 ENCODE 12.2 -33.1 -33085 4.2 HDGF FOXA2 MLX CREB3L1 ZFP64 ARID4B SIN3A DMAP1 YBX1 ZNF2 SEPT12 ROGDI C16orf71 ANKS3 ZNF500 GLYR1 UBN1 SMIM22 SEC14L5 CDIP1
GH16G004270 1.8 FANTOM5 ENCODE dbSUPER 1.8 +461.7 461664 4.5 MLX CREB3L1 AGO1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 TIGD7 CLUAP1 MTCO1P28 ENSG00000263235 ZNF174 LINC01569 MTND1P8 ZNF500 MTRNR2L4 CDIP1
GH16G004733 1.1 ENCODE 0.7 -0.1 -108 2.2 HDGF PKNOX1 MLX CREB3L1 ZFP64 ARID4B SIN3A DMAP1 ZBTB7B YY1 ZNF500 LOC102724927 MGRN1 ANKS3 ENSG00000266994
GH16G004743 0.7 Ensembl 0.4 -9.1 -9123 0.6 SCRT1 PKNOX1 MLX ZNF48 RARA HNF4G ZNF24 HNF4A ZNF600 SMAD4 ZNF500 MGRN1 ANKS3 ENSG00000266994
GH16G004745 0.7 ENCODE 0.4 -10.9 -10947 0.2 BCOR USF1 NFIB MAX KLF17 ZMYM3 PATZ1 RFX1 USF2 NFYC ZNF500 ENSG00000266994 ANKS3
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ANKS3 on UCSC Golden Path with GeneCards custom track

Promoters for ANKS3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000082860 178 2001 HDGF PKNOX1 MLX CREB3L1 ZFP64 ARID4B SIN3A DMAP1 ZBTB7B YY1

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

Genomic Location for ANKS3 Gene

Chromosome:
16
Start:
4,696,510 bp from pter
End:
4,734,378 bp from pter
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 Structure • Gene Density

RefSeq DNA sequence for ANKS3 Gene

Proteins for ANKS3 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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 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

    UniProtKB/Swiss-Prot:

neXtProt entry for ANKS3 Gene

Protein Expression for ANKS3 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for ANKS3 Gene

Other Protein References for ANKS3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ANKS3 Gene

Domains & Families for ANKS3 Gene

Gene Families for ANKS3 Gene

HGNC:

Protein Domains for ANKS3 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for ANKS3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6ZW76

UniProtKB/Swiss-Prot:

ANKS3_HUMAN :
  • The SAM domain mediates homooligomerization and interaction with ANKS6.
Domain:
  • The SAM domain mediates homooligomerization and interaction with ANKS6.
genes like me logo Genes that share domains with ANKS3: view

Function for ANKS3 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

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

Animal Model Products

CRISPR Products

miRNA for ANKS3 Gene

miRTarBase miRNAs that target ANKS3

Inhibitory RNA Products

Flow Cytometry Products

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

Localization for ANKS3 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 ANKS3 gene
Compartment Confidence
nucleus 4
cytosol 4

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

PathCards logo More details on SuperPathways for ANKS3
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

Products:

  1. Drug
No Compound Related Data Available

Transcripts for ANKS3 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for ANKS3 Gene

(13) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(109) Selected AceView cDNA sequences:
(30) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ANKS3 Gene

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

CRISPR Products

Inhibitory RNA Products

Flow Cytometry 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: - - -
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
ECgene alternative splicing isoforms for
ANKS3

Expression for ANKS3 Gene

Products:

  1. Primer

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

mRNA expression in normal human tissues for ANKS3 Gene
mRNA expression by BioGPS for ANKS3 GenemRNA expression by GTEx 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:

ANKS3

SOURCE GeneReport for Unigene cluster for ANKS3 Gene:

Hs.654859

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

Primer Products

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
chimpanzee
(Pan troglodytes)
 Mammalia ANKS3 35 34
  • 97.35 (n)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 35
  • 87 (a)
 OneToMany
-- 35
  • 66 (a)
 OneToMany
cow
(Bos Taurus)
 Mammalia ANKS3 34 35
  • 86.7 (n)
dog
(Canis familiaris)
 Mammalia ANKS3 35 34
  • 86.02 (n)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Anks3 34
  • 83.81 (n)
mouse
(Mus musculus)
 Mammalia Anks3 16 35 34
  • 82.87 (n)
oppossum
(Monodelphis domestica)
 Mammalia ANKS3 35
  • 76 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves ANKS3 34 35
  • 72.13 (n)
lizard
(Anolis carolinensis)
 Reptilia ANKS3 35
  • 69 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia anks3 34
  • 64.18 (n)
zebrafish
(Danio rerio)
 Actinopterygii zgc:172142 34
  • 62.05 (n)
ANKS3 35
  • 53 (a)
 OneToOne
fruit fly
(Drosophila melanogaster)
 Insecta m-cup 35
  • 12 (a)
 ManyToMany
worm
(Caenorhabditis elegans)
 Secernentea CELE_Y39C12A.1 34
  • 44.52 (n)
Y39C12A.1 35
  • 29 (a)
 OneToOne
sea squirt
(Ciona savignyi)
 Ascidiacea -- 35
  • 42 (a)
 OneToOne
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

ENSEMBL:
Gene Tree for ANKS3 (if available)
TreeFam:
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 Sequence Context AA Info Type
rs1057519332 Uncertain significance 4,726,711(-) CCGGG(A/C)ACCAG intron-variant, nc-transcript-variant, reference, missense, utr-variant-5-prime
rs1000014433 -- 4,723,678(+) AGATA(C/T)ATATT intron-variant
rs1000022640 -- 4,701,709(+) ATACA(C/G)ACGGG intron-variant
rs1000036840 -- 4,712,817(+) AGAAC(G/T)GTGCA intron-variant
rs1000086207 -- 4,735,769(+) CCTGG(G/T)CAACA intron-variant, upstream-variant-2KB

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)

Relevant External Links for ANKS3 Gene

Human Gene Mutation Database (HGMD)
ANKS3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ANKS3

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

Disorders for ANKS3 Gene

Relevant External Links for ANKS3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ANKS3

No disorders were found for ANKS3 Gene.

No data available for MalaCards , 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 Res. 2001) 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. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. A deep proteomics perspective on CRM1-mediated nuclear export and nucleocytoplasmic partitioning. (PMID: 26673895) KA+rlA+ K. … GAPrlich D. (Elife 2015) 3 64
  5. Insights into RNA biology from an atlas of mammalian mRNA-binding proteins. (PMID: 22658674) Castello A. … Hentze M.W. (Cell 2012) 3 64

Products for ANKS3 Gene

Sources for ANKS3 Gene

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