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Aliases for ANKRA2 Gene

Aliases for ANKRA2 Gene

  • Ankyrin Repeat Family A Member 2 2 3 5
  • Ankyrin Repeat, Family A (RFXANK-Like), 2 2 3
  • RFXANK-Like Protein 2 3 4
  • ANKRA 3 4
  • Ankyrin Repeat Family A Protein 2 3

External Ids for ANKRA2 Gene

Previous GeneCards Identifiers for ANKRA2 Gene

  • GC05M071653
  • GC05M073081
  • GC05M072886
  • GC05M072932
  • GC05M072883
  • GC05M068053
  • GC05M072849

Summaries for ANKRA2 Gene

GeneCards Summary for ANKRA2 Gene

ANKRA2 (Ankyrin Repeat Family A Member 2) is a Protein Coding gene. Among its related pathways are Signaling events mediated by HDAC Class II. Gene Ontology (GO) annotations related to this gene include histone deacetylase binding and low-density lipoprotein particle binding. An important paralog of this gene is RFXANK.

UniProtKB/Swiss-Prot for ANKRA2 Gene

  • May regulate the interaction between the 3M complex and the histone deacetylases HDAC4 and HDAC5 (PubMed:25752541). May also regulate LRP2/megalin (By similarity).

Additional gene information for ANKRA2 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ANKRA2 Gene

Genomics for ANKRA2 Gene

GeneHancer (GH) Regulatory Elements for ANKRA2 Gene

Promoters and enhancers for ANKRA2 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
GH05J073563 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 656.6 +0.1 132 3.2 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 YY1 SLC30A9 POLR2B UTP15 ANKRA2 ARHGEF28
GH05J073029 Enhancer 1.1 Ensembl ENCODE 63 +534.5 534506 3.2 PKNOX1 ARNT ZFP64 ZNF133 NEUROD1 SIN3A FEZF1 GLIS2 ZNF213 FOS ANKRA2 ENSG00000272525 UTP15 TMEM171 ENSG00000272081 FCHO2 LOC728549 GC05P073101
GH05J073443 Promoter/Enhancer 1.6 Ensembl ENCODE dbSUPER 30.9 +119.4 119428 6.3 PKNOX1 ATF1 SIN3A ZNF2 YY1 GLIS2 ZNF213 ZNF202 ZNF263 SP3 GC05M073447 GC05M073448 FOXD1-AS1 ANKRA2 LINC01385 LINC01386 LINC02230 ENSG00000223497 LINC01335 LINC01333
GH05J073495 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 20.5 +67.6 67582 5.1 HDGF PKNOX1 FOXA2 SMAD1 ARNT ARID4B SIN3A DMAP1 YBX1 ZNF2 BTF3 ENSG00000272525 ANKRA2 UTP15 FCHO2 GC05M073449
GH05J073114 Promoter/Enhancer 2 EPDnew Ensembl ENCODE dbSUPER 15.9 +447.7 447729 6.5 FOXA2 SIN3A RAD21 YY1 ZNF335 EGR1 FOS ZNF202 RXRA CEBPB TMEM171 ANKRA2 UTP15 TNPO1 ENSG00000249085 ARHGEF28 GC05M073090
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ANKRA2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ANKRA2 gene promoter:
  • POU3F2
  • POU3F2 (N-Oct-5b)
  • POU3F2 (N-Oct-5a)
  • POU2F1c
  • POU2F1b
  • POU2F1a
  • POU2F1
  • ATF-2
  • c-Jun

Genomic Locations for ANKRA2 Gene

Genomic Locations for ANKRA2 Gene
chr5:73,552,200-73,565,705
(GRCh38/hg38)
Size:
13,506 bases
Orientation:
Minus strand
chr5:72,848,025-72,861,511
(GRCh37/hg19)
Size:
13,487 bases
Orientation:
Minus strand

Genomic View for ANKRA2 Gene

Genes around ANKRA2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ANKRA2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ANKRA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ANKRA2 Gene

Proteins for ANKRA2 Gene

  • Protein details for ANKRA2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H9E1-ANRA2_HUMAN
    Recommended name:
    Ankyrin repeat family A protein 2
    Protein Accession:
    Q9H9E1

    Protein attributes for ANKRA2 Gene

    Size:
    313 amino acids
    Molecular mass:
    34272 Da
    Quaternary structure:
    • Interacts (via ANK repeats) with CCDC8 (via PxLPxI/L motif); mediates the interaction with the 3M complex which is composed of CCDC8, CUL7 and OBSL1 (PubMed:25752541). Interacts (via ANK repeats) with HDAC4 (via PxLPxI/L motif) (PubMed:22649097). Interacts (via ANK repeats) with HDAC5 (via PxLPxI/L motif) (PubMed:22649097). Interacts (via ANK repeats) with LRP2/megalin (via PxLPxI/L motif) (PubMed:22649097). Interacts (via ANK repeats) with RFX7 (via PxLPxI/L motif) (PubMed:25752541). Interacts with AHRR (By similarity). Interacts with NEK6 (PubMed:20873783).

    Three dimensional structures from OCA and Proteopedia for ANKRA2 Gene

neXtProt entry for ANKRA2 Gene

Post-translational modifications for ANKRA2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ANKRA2 Gene

No data available for DME Specific Peptides for ANKRA2 Gene

Domains & Families for ANKRA2 Gene

Gene Families for ANKRA2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ANKRA2 Gene

Suggested Antigen Peptide Sequences for ANKRA2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H9E1

UniProtKB/Swiss-Prot:

ANRA2_HUMAN :
  • The ankyrin repeats, mainly ANK 2, ANK 3 and ANK 4, mediate interaction with a wide array of PxLPxI/L motif-containing proteins including HDAC4 and LRP2. The PxLPxI/L motif of interactors can contain a Ser or a Thr residue in position 2, which phosphorylation prevents the interaction with ANKRA2.
Domain:
  • The ankyrin repeats, mainly ANK 2, ANK 3 and ANK 4, mediate interaction with a wide array of PxLPxI/L motif-containing proteins including HDAC4 and LRP2. The PxLPxI/L motif of interactors can contain a Ser or a Thr residue in position 2, which phosphorylation prevents the interaction with ANKRA2.
genes like me logo Genes that share domains with ANKRA2: view

Function for ANKRA2 Gene

Molecular function for ANKRA2 Gene

UniProtKB/Swiss-Prot Function:
May regulate the interaction between the 3M complex and the histone deacetylases HDAC4 and HDAC5 (PubMed:25752541). May also regulate LRP2/megalin (By similarity).

Phenotypes From GWAS Catalog for ANKRA2 Gene

Gene Ontology (GO) - Molecular Function for ANKRA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003712 transcription coregulator activity IBA --
GO:0005515 protein binding IPI,IEA 25416956
GO:0019901 protein kinase binding IPI 20873783
GO:0031625 ubiquitin protein ligase binding IDA 25752541
GO:0042826 histone deacetylase binding IPI 22649097
genes like me logo Genes that share ontologies with ANKRA2: view
genes like me logo Genes that share phenotypes with ANKRA2: view

Animal Model Products

miRNA for ANKRA2 Gene

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ANKRA2 Gene

Localization for ANKRA2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ANKRA2 Gene

Cytoplasm, cytoskeleton. Membrane; Peripheral 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 ANKRA2 gene
Compartment Confidence
cytosol 5
cytoskeleton 4
nucleus 4
plasma membrane 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ANKRA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA 11095640
GO:0005856 cytoskeleton IEA --
GO:0016020 membrane IDA,IEA 11095640
genes like me logo Genes that share ontologies with ANKRA2: view

Pathways & Interactions for ANKRA2 Gene

genes like me logo Genes that share pathways with ANKRA2: view

Pathways by source for ANKRA2 Gene

1 BioSystems pathway for ANKRA2 Gene

Gene Ontology (GO) - Biological Process for ANKRA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006357 regulation of transcription by RNA polymerase II IBA --
GO:0043254 regulation of protein complex assembly IDA 25752541
genes like me logo Genes that share ontologies with ANKRA2: view

No data available for SIGNOR curated interactions for ANKRA2 Gene

Drugs & Compounds for ANKRA2 Gene

No Compound Related Data Available

Transcripts for ANKRA2 Gene

mRNA/cDNA for ANKRA2 Gene

Unigene Clusters for ANKRA2 Gene

Ankyrin repeat, family A (RFXANK-like), 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ANKRA2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c · 8d · 8e
SP1: - -
SP2: - - -
SP3: -
SP4: - -
SP5:

Relevant External Links for ANKRA2 Gene

GeneLoc Exon Structure for
ANKRA2
ECgene alternative splicing isoforms for
ANKRA2

Expression for ANKRA2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ANKRA2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ANKRA2 Gene

This gene is overexpressed in Adipocyte (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ANKRA2 Gene



Protein tissue co-expression partners for ANKRA2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ANKRA2 Gene:

ANKRA2

SOURCE GeneReport for Unigene cluster for ANKRA2 Gene:

Hs.239154

Evidence on tissue expression from TISSUES for ANKRA2 Gene

  • Kidney(4.2)
  • Nervous system(2.3)
genes like me logo Genes that share expression patterns with ANKRA2: 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 ANKRA2 Gene

Orthologs for ANKRA2 Gene

This gene was present in the common ancestor of animals.

Orthologs for ANKRA2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ANKRA2 34 33
  • 99.47 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ANKRA2 34 33
  • 93.5 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ANKRA2 34 33
  • 92.97 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ANKRA2 34
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ankra2 33
  • 89.24 (n)
mouse
(Mus musculus)
Mammalia Ankra2 16 34 33
  • 88.78 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ANKRA2 34
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves ANKRA2 34 33
  • 80.94 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ANKRA2 34
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ankra2 33
  • 79.17 (n)
Str.3915 33
zebrafish
(Danio rerio)
Actinopterygii ankra2 34 33
  • 72.72 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG5846 34
  • 29 (a)
OneToMany
Species where no ortholog for ANKRA2 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 ANKRA2 Gene

ENSEMBL:
Gene Tree for ANKRA2 (if available)
TreeFam:
Gene Tree for ANKRA2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ANKRA2: view image

Paralogs for ANKRA2 Gene

Paralogs for ANKRA2 Gene

(1) SIMAP similar genes for ANKRA2 Gene using alignment to 2 proteins:

  • ANRA2_HUMAN
  • D6RBK8_HUMAN
genes like me logo Genes that share paralogs with ANKRA2: view

Variants for ANKRA2 Gene

Sequence variations from dbSNP and Humsavar for ANKRA2 Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs1000120750 -- 73,564,025(-) T/G intron_variant
rs1000309739 -- 73,555,995(-) G/A intron_variant
rs1000316267 -- 73,565,931(-) C/G upstream_transcript_variant
rs1000329196 -- 73,566,316(-) C/T upstream_transcript_variant
rs1000456824 -- 73,563,693(-) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ANKRA2 Gene

Variant ID Type Subtype PubMed ID
nsv830346 CNV loss 17160897
nsv830347 CNV gain 17160897

Variation tolerance for ANKRA2 Gene

Residual Variation Intolerance Score: 20.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.57; 12.37% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ANKRA2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ANKRA2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ANKRA2 Gene

Disorders for ANKRA2 Gene

Additional Disease Information for ANKRA2

No disorders were found for ANKRA2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ANKRA2 Gene

Publications for ANKRA2 Gene

  1. Ankyrin repeats of ANKRA2 recognize a PxLPxL motif on the 3M syndrome protein CCDC8. (PMID: 25752541) Nie J … Yang XJ (Structure (London, England : 1993) 2015) 3 4 58
  2. Sequence-specific recognition of a PxLPxI/L motif by an ankyrin repeat tumbler lock. (PMID: 22649097) Xu C … Min J (Science signaling 2012) 3 4 58
  3. Characterization of hNek6 interactome reveals an important role for its short N-terminal domain and colocalization with proteins at the centrosome. (PMID: 20873783) Vaz Meirelles G … Kobarg J (Journal of proteome research 2010) 3 4 58
  4. Identification of the ankyrin repeat proteins ANKRA and RFXANK as novel partners of class IIa histone deacetylases. (PMID: 15964851) Wang AH … Yang XJ (The Journal of biological chemistry 2005) 3 22 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for ANKRA2 Gene

Sources for ANKRA2 Gene

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