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Aliases for ANKAR Gene

Aliases for ANKAR Gene

  • Ankyrin And Armadillo Repeat Containing 2 3 5

External Ids for ANKAR Gene

Previous GeneCards Identifiers for ANKAR Gene

  • GC02P190249
  • GC02P190539
  • GC02P182400

Summaries for ANKAR Gene

GeneCards Summary for ANKAR Gene

ANKAR (Ankyrin And Armadillo Repeat Containing) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include binding and nuclear hormone receptor binding.

Additional gene information for ANKAR 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 ANKAR Gene

Genomics for ANKAR Gene

GeneHancer (GH) Regulatory Elements for ANKAR Gene

Promoters and enhancers for ANKAR 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
GH02I189673 Promoter/Enhancer 1.5 Ensembl ENCODE 550.8 +0.2 225 2.4 ARID4B SIN3A DMAP1 IRF4 ZNF48 YY1 ELK1 ZNF207 ZNF143 RUNX3 LOC105373793 ANKAR ORMDL1 NEMP2
GH02I189782 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 15.7 +109.7 109736 3.6 HDGF PKNOX1 SMAD1 FOXA2 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ORMDL1 PMS1 ANKAR HNRNPCP2 OSGEPL1-AS1 OSGEPL1 WDR75 NEMP2 ASNSD1 ENSG00000273240
GH02I190179 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 14.9 +508.4 508363 6 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZNF766 E2F8 C2orf88 WDR75 PMS1 ANKAR ORMDL1 NEMP2 LOC105373794 GC02M190201
GH02I189440 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 11.3 -232.9 -232861 2.3 HDGF PKNOX1 SMAD1 MLX ARNT ARID4B NEUROD1 SIN3A DMAP1 ZBTB7B WDR75 LOC101927252 ORMDL1 HNRNPCP2 ANKAR PMS1 COL5A2 LOC100420666
GH02I190318 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 11.2 +645.4 645382 2.8 HDGF PKNOX1 FOXA2 SMAD1 MLX ARNT ARID4B NEUROD1 SIN3A DMAP1 HIBCH NEMP2 ORMDL1 WDR75 ANKAR PMS1 INPP1 GC02M190201
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ANKAR on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for ANKAR Gene

Genomic Locations for ANKAR Gene
chr2:189,674,290-189,763,058
(GRCh38/hg38)
Size:
88,769 bases
Orientation:
Plus strand
chr2:190,539,016-190,625,919
(GRCh37/hg19)

Genomic View for ANKAR Gene

Genes around ANKAR on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for ANKAR Gene

Proteins for ANKAR Gene

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

    Protein Symbol:
    Q7Z5J8-ANKAR_HUMAN
    Recommended name:
    Ankyrin and armadillo repeat-containing protein
    Protein Accession:
    Q7Z5J8
    Secondary Accessions:
    • Q3ZCS6
    • Q4G0M2
    • Q6ZU02

    Protein attributes for ANKAR Gene

    Size:
    1434 amino acids
    Molecular mass:
    162026 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for ANKAR Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ANKAR Gene

Post-translational modifications for ANKAR Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ANKAR Gene

Domains & Families for ANKAR Gene

Gene Families for ANKAR Gene

Suggested Antigen Peptide Sequences for ANKAR Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with ANKAR: view

No data available for UniProtKB/Swiss-Prot for ANKAR Gene

Function for ANKAR Gene

Phenotypes From GWAS Catalog for ANKAR Gene

Phenotypes for ANKAR Gene

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

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ANKAR Gene

Localization for ANKAR Gene

Subcellular locations from UniProtKB/Swiss-Prot for ANKAR Gene

Membrane; Single-pass membrane protein.

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 ANKAR gene
Compartment Confidence
plasma membrane 3
nucleus 3
cytoskeleton 2
peroxisome 1
endoplasmic reticulum 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Microtubule organizing center (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ANKAR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA --
GO:0005737 cytoplasm IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ANKAR: view

Pathways & Interactions for ANKAR Gene

SuperPathways for ANKAR Gene

No Data Available

Interacting Proteins for ANKAR Gene

Selected Interacting proteins: Q7Z5J8-ANKAR_HUMAN for ANKAR Gene via IID

Gene Ontology (GO) - Biological Process for ANKAR Gene

None

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

Drugs & Compounds for ANKAR Gene

No Compound Related Data Available

Transcripts for ANKAR Gene

Unigene Clusters for ANKAR Gene

Ankyrin and armadillo repeat containing:
Representative Sequences:

Clone Products

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

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b · 14c ^ 15a · 15b ^ 16 ^ 17 ^
SP1: - - -
SP2: - - - -
SP3: - - - - - - - -
SP4: - - - - - - - - - - -
SP5: - - - - - - - -
SP6:
SP7:

ExUns: 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24a · 24b
SP1:
SP2: - -
SP3: -
SP4: - -
SP5:
SP6:
SP7:

Relevant External Links for ANKAR Gene

GeneLoc Exon Structure for
ANKAR
ECgene alternative splicing isoforms for
ANKAR

Expression for ANKAR Gene

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

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

This gene is overexpressed in Testis (x4.6).

Protein differential expression in normal tissues from HIPED for ANKAR Gene

This gene is overexpressed in Pancreatic juice (44.5) and Heart (24.5).

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



Protein tissue co-expression partners for ANKAR Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ANKAR Gene:

ANKAR

SOURCE GeneReport for Unigene cluster for ANKAR Gene:

Hs.655700

mRNA Expression by UniProt/SwissProt for ANKAR Gene:

Q7Z5J8-ANKAR_HUMAN
Tissue specificity: Ubiquitously expressed with highest level in pancreas and lowest in skeletal muscle.

Evidence on tissue expression from TISSUES for ANKAR Gene

  • Heart(4.1)
genes like me logo Genes that share expression patterns with ANKAR: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for ANKAR Gene

Orthologs for ANKAR Gene

This gene was present in the common ancestor of chordates.

Orthologs for ANKAR Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ANKAR 33 34
  • 99.49 (n)
cow
(Bos Taurus)
Mammalia ANKAR 33 34
  • 90.16 (n)
dog
(Canis familiaris)
Mammalia ANKAR 33 34
  • 84.9 (n)
rat
(Rattus norvegicus)
Mammalia Ankar 33
  • 84.72 (n)
mouse
(Mus musculus)
Mammalia Ankar 33 16 34
  • 83.22 (n)
oppossum
(Monodelphis domestica)
Mammalia ANKAR 34
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ANKAR 34
  • 65 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ANKAR 34
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ankar 33
  • 62.88 (n)
zebrafish
(Danio rerio)
Actinopterygii ankar 33 34
  • 56.5 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 35 (a)
OneToOne
Species where no ortholog for ANKAR 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)
  • chicken (Gallus gallus)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for ANKAR Gene

ENSEMBL:
Gene Tree for ANKAR (if available)
TreeFam:
Gene Tree for ANKAR (if available)

Paralogs for ANKAR Gene

Pseudogenes.org Pseudogenes for ANKAR Gene

genes like me logo Genes that share paralogs with ANKAR: view

No data available for Paralogs for ANKAR Gene

Variants for ANKAR Gene

Sequence variations from dbSNP and Humsavar for ANKAR Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1000017156 -- 189,762,886(+) G/A/T 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant
rs1000081282 -- 189,757,267(+) A/G genic_downstream_transcript_variant, intron_variant
rs1000194293 -- 189,760,565(+) G/T genic_downstream_transcript_variant, intron_variant
rs1000234123 -- 189,701,965(+) A/G intron_variant
rs1000272757 -- 189,724,144(+) A/C intron_variant

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

Variant ID Type Subtype PubMed ID
esv2721260 CNV deletion 23290073
esv2721261 CNV deletion 23290073
esv3593747 CNV loss 21293372
nsv1114156 CNV deletion 24896259

Variation tolerance for ANKAR Gene

Residual Variation Intolerance Score: 89.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.32; 76.66% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ANKAR Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ANKAR

SNP Genotyping and Copy Number Assay Products

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

Disorders for ANKAR Gene

Additional Disease Information for ANKAR

No disorders were found for ANKAR Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ANKAR Gene

Publications for ANKAR Gene

  1. Characterization of a novel human gene containing ANK repeats and ARM domains. (PMID: 15110750) Occhi G … Danieli GA (Biochemical and biophysical research communications 2004) 2 3 4 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. Genome-wide association study identifies variants in PMS1 associated with serum ferritin in a Chinese population. (PMID: 25162662) Liao M … Zhang H (PloS one 2014) 3 58
  4. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PMID: 23251661) Comuzzie AG … Butte NF (PloS one 2012) 3 58
  5. Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. (PMID: 21565611) Sang L … Jackson PK (Cell 2011) 3 58

Products for ANKAR Gene

Sources for ANKAR Gene

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