Aliases for ANKAR Gene

Aliases for ANKAR Gene

  • Ankyrin And Armadillo Repeat Containing 2 3 5
  • Ankyrin And Armadillo Repeat-Containing Protein 3 4
  • FLJ25415 2
  • ANKAR 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. Diseases associated with ANKAR include Cowden Syndrome 1 and Hemochromatosis, Type 4. Gene Ontology (GO) annotations related to this gene include binding and nuclear hormone receptor binding. An important paralog of this gene is ARMC4.

Additional gene information for ANKAR Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ANKAR Gene

Genomics for ANKAR Gene

GeneHancer (GH) Regulatory Elements Pubs

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
GH02J189673 Promoter/Enhancer 1.8 Ensembl ENCODE CraniofacialAtlas 600.7 +0.2 225 2.4 HNRNPL GATAD2A CTCF POLR2A BACH1 TARDBP LARP7 ZNF143 RBFOX2 RXRB ANKAR LOC105373793 NONHSAG030082.2 lnc-OSGEPL1-2 ORMDL1 NEMP2 OSGEPL1
GH02J189675 Promoter 0.4 Ensembl 600.7 +1.6 1611 0.2 ZNF644 ANKAR LOC105373793 NONHSAG030082.2 lnc-OSGEPL1-2 ORMDL1 OSGEPL1 OSGEPL1-AS1 RF00017-3385
GH02J189667 Promoter 0.3 EPDnew 600.4 -6.4 -6429 0.1 ANKAR OSGEPL1-AS1 OSGEPL1 ORMDL1 ASNSD1 ENSG00000286165
GH02J189668 Promoter 0.3 EPDnew 600.4 -6.9 -6943 0.1 ANKAR ASNSD1 ENSG00000286165
GH02J190179 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 25.1 +508.4 508363 6 HNRNPL GATAD2A CTCF PRDM10 LEF1 IKZF1 NFKBIZ ZNF692 RCOR2 BACH1 C2orf88 WDR75 ORMDL1 ANKAR NEMP2 PMS1 lnc-MSTN-2 LOC105373794 MSTN INPP1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

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

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

Top Transcription factor binding sites by QIAGEN in the ANKAR gene promoter:
  • aMEF-2
  • Brachyury
  • C/EBPbeta
  • Cart-1
  • COMP1
  • HSF1 (long)
  • HSF1short
  • MEF-2
  • MEF-2A

Genomic Locations for ANKAR Gene

Genomic Locations for ANKAR Gene
chr2:189,674,290-189,763,059
(GRCh38/hg38)
Size:
88,770 bases
Orientation:
Plus strand
chr2:190,539,016-190,625,919
(GRCh37/hg19)
Size:
86,904 bases
Orientation:
Plus strand

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

Protein Domains for ANKAR Gene

InterPro:
Blocks:
  • Ankyrin repeat signature
  • Armadillo repeat
ProtoNet:

Suggested Antigen Peptide Sequences for ANKAR Gene

GenScript: Design optimal peptide antigens:
  • Ankyrin and armadillo repeat-containing protein (ANKAR_HUMAN)
genes like me logo Genes that share domains with ANKAR: view

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

Function for ANKAR Gene

Phenotypes From GWAS Catalog for ANKAR Gene

Gene Ontology (GO) - Molecular Function for ANKAR Gene

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

Phenotypes for ANKAR Gene

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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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

No data available for Molecular function , Enzyme Numbers (IUBMB) , 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 2
cytoskeleton 2
peroxisome 1
endoplasmic reticulum 1
cytosol 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centriolar satellite (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ANKAR Gene

GO ID Qualified GO term Evidence PubMed IDs
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

PathCards logo

SuperPathways for ANKAR Gene

No Data Available

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

mRNA/cDNA for ANKAR Gene

2 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
9 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 ANKAR

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

Expression for ANKAR Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 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 30 31
  • 99.49 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ANKAR 30 31
  • 90.16 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ANKAR 30 31
  • 84.9 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ankar 30
  • 84.72 (n)
Mouse
(Mus musculus)
Mammalia Ankar 30 17 31
  • 83.22 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ANKAR 31
  • 72 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ANKAR 31
  • 65 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ANKAR 31
  • 60 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ankar 30
  • 62.88 (n)
Zebrafish
(Danio rerio)
Actinopterygii ankar 30 31
  • 56.5 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 35 (a)
OneToOne
Species where no ortholog for ANKAR 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)
  • 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 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)
  • Worm (Caenorhabditis elegans)

Evolution for ANKAR Gene

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

Paralogs for ANKAR Gene

Paralogs for ANKAR Gene

Pseudogenes.org Pseudogenes for ANKAR Gene

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

Variants for ANKAR Gene

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

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
714134 Likely Benign: not provided 189,719,674(+) T/C MISSENSE_VARIANT
714135 Benign: not provided 189,761,562(+) T/G MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT
716762 Benign: not provided 189,689,541(+) A/G MISSENSE_VARIANT
724337 Benign: not provided 189,754,274(+) A/G NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
727247 Likely Benign: not provided 189,696,277(+) A/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for ANKAR Gene

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

MalaCards: The human disease database

(2) MalaCards diseases for ANKAR Gene - From: DISEASES

Disorder Aliases PubMed IDs
cowden syndrome 1
  • cws1
hemochromatosis, type 4
  • hfe4
- elite association - COSMIC cancer census association via MalaCards
Search ANKAR in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with ANKAR: view

No data available for 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
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing. (PMID: 28611215) Fei T … Brown M (Proceedings of the National Academy of Sciences of the United States of America 2017) 3
  4. 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
  5. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PMID: 23251661) Comuzzie AG … Butte NF (PloS one 2012) 3

Products for ANKAR Gene

Sources for ANKAR Gene