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Aliases for ANKRD2 Gene

Aliases for ANKRD2 Gene

  • Ankyrin Repeat Domain 2 2 3 5
  • Ankyrin Repeat Domain 2 (Stretch Responsive Muscle) 2 3
  • Skeletal Muscle Ankyrin Repeat Protein 3 4
  • ARPP 3 4
  • Ankyrin Repeat Domain-Containing Protein 2 3
  • HArpp 4

External Ids for ANKRD2 Gene

Previous GeneCards Identifiers for ANKRD2 Gene

  • GC10P098225
  • GC10P098565
  • GC10P099463
  • GC10P098996
  • GC10P099322
  • GC10P092958

Summaries for ANKRD2 Gene

Entrez Gene Summary for ANKRD2 Gene

  • This gene encodes a protein that belongs to the muscle ankyrin repeat protein (MARP) family. A similar gene in rodents is a component of a muscle stress response pathway and plays a role in the stretch-response associated with slow muscle function. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]

GeneCards Summary for ANKRD2 Gene

ANKRD2 (Ankyrin Repeat Domain 2) is a Protein Coding gene. Diseases associated with ANKRD2 include Dilated Cardiomyopathy. Gene Ontology (GO) annotations related to this gene include structural constituent of muscle and protein kinase B binding. An important paralog of this gene is ANKRD1.

UniProtKB/Swiss-Prot for ANKRD2 Gene

  • Functions as a negative regulator of myocyte differentiation. May interact with both sarcoplasmic structural proteins and nuclear proteins to regulate gene expression during muscle development and in response to muscle stress.

Gene Wiki entry for ANKRD2 Gene

Additional gene information for ANKRD2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ANKRD2 Gene

Genomics for ANKRD2 Gene

GeneHancer (GH) Regulatory Elements for ANKRD2 Gene

Promoters and enhancers for ANKRD2 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
GH10J097569 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 656.7 +0.8 780 6.5 HDGF PKNOX1 FOXA2 ZFP64 ARID4B NEUROD1 SIN3A ZNF2 ZBTB7B ETS1 ANKRD2 MMS19 R3HCC1L HPS1 EXOSC1 LOXL4 LCOR RPL13AP5 MARVELD1 ENSG00000230928
GH10J097639 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.8 +68.7 68725 2.7 HDGF PKNOX1 FOXA2 ARID4B SIN3A YY1 ZNF213 ZNF143 FOS SP3 PI4K2A R3HCC1L MORN4 ZFYVE27 HPS1 ANKRD2 AVPI1 C10orf62 HOGA1 ENSG00000249967
GH10J097537 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 16.6 -31.1 -31093 6.8 PKNOX1 ZFP64 ARID4B NEUROD1 SIN3A ZNF2 ZNF121 GLIS2 FOS REST GC10P097540 PI4K2A ANKRD2 MMS19 UBTD1 ENSG00000249967 HOGA1 C10orf62 RRP12
GH10J097632 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 11.4 +61.0 60984 1.6 HDGF ARNT ARID4B SIN3A ZNF2 YY1 ZNF143 FOS SP3 NFYC MORN4 ANKRD2 C10orf62 HOGA1 ENSG00000249967 GC10M097562
GH10J097444 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 10.3 -125.8 -125755 3.7 PKNOX1 SMAD1 FOXA2 MLX ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 ZDHHC16 EXOSC1 PGAM1 ENSG00000200737 RRP12 UBTD1 MMS19 ANKRD2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ANKRD2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ANKRD2 gene promoter:

Genomic Locations for ANKRD2 Gene

Genomic Locations for ANKRD2 Gene
chr10:97,572,441-97,583,884
(GRCh38/hg38)
Size:
11,444 bases
Orientation:
Plus strand
chr10:99,332,198-99,343,641
(GRCh37/hg19)

Genomic View for ANKRD2 Gene

Genes around ANKRD2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ANKRD2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ANKRD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ANKRD2 Gene

Proteins for ANKRD2 Gene

  • Protein details for ANKRD2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9GZV1-ANKR2_HUMAN
    Recommended name:
    Ankyrin repeat domain-containing protein 2
    Protein Accession:
    Q9GZV1
    Secondary Accessions:
    • Q3B778
    • Q5T456
    • Q70EZ9
    • Q8WUD7
    • Q96MG0
    • Q9NQC9

    Protein attributes for ANKRD2 Gene

    Size:
    360 amino acids
    Molecular mass:
    39859 Da
    Quaternary structure:
    • Interacts with ID3; both proteins cooperate in myoblast differentiation (By similarity). Interacts with TTN/titin. Interacts (via ANK repeats) with TCAP; the interaction is direct. Interacts with TJP1 (via PDZ domains). Interacts with PML; the interaction is direct. Interacts with p53/TP53. Interacts with YBX1. Interacts with AKT2.
    SequenceCaution:
    • Sequence=AK056990; Type=Erroneous termination; Positions=210; Note=Translated as Gln.; Evidence={ECO:0000305}; Sequence=BAB60958.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAC19411.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAC19412.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAE47432.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for ANKRD2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ANKRD2 Gene

Post-translational modifications for ANKRD2 Gene

  • Phosphorylation at Ser-99 by PKB/AKT2 in response to oxidative stress induces translocation to the nucleus and negatively regulates myoblast differentiation.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ANKRD2 Gene

Domains & Families for ANKRD2 Gene

Gene Families for ANKRD2 Gene

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

Protein Domains for ANKRD2 Gene

Suggested Antigen Peptide Sequences for ANKRD2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with ANKRD2: view

No data available for UniProtKB/Swiss-Prot for ANKRD2 Gene

Function for ANKRD2 Gene

Molecular function for ANKRD2 Gene

UniProtKB/Swiss-Prot Function:
Functions as a negative regulator of myocyte differentiation. May interact with both sarcoplasmic structural proteins and nuclear proteins to regulate gene expression during muscle development and in response to muscle stress.

Gene Ontology (GO) - Molecular Function for ANKRD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003682 chromatin binding IEA --
GO:0003712 transcription coregulator activity IBA --
GO:0005515 protein binding IEA --
GO:0008307 structural constituent of muscle NAS 11444853
GO:0031432 titin binding IBA --
genes like me logo Genes that share ontologies with ANKRD2: view
genes like me logo Genes that share phenotypes with ANKRD2: view

Animal Models for ANKRD2 Gene

MGI Knock Outs for ANKRD2:

Animal Model Products

CRISPR Products

miRNA for ANKRD2 Gene

miRTarBase miRNAs that target ANKRD2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ANKRD2 Gene

Localization for ANKRD2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ANKRD2 Gene

Cytoplasm, myofibril, sarcomere, I band. Cytoplasm, cytosol. Nucleus. Nucleus, PML body. Note=In the sarcoplasm of differentiated striated muscle cells, where it is cytosolic and enriched in the I band. In nucleus and PML bodies of proliferating and undifferentiated myoblasts. Associates with the euchromatin in the nucleus of myocytes upon muscle stress.

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 ANKRD2 gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 1
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ANKRD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000791 euchromatin ISS --
GO:0005634 nucleus IEA,IDA 21737686
GO:0005737 cytoplasm IBA,IEA --
GO:0005829 cytosol IDA,IEA 21737686
GO:0016605 PML body IEA --
genes like me logo Genes that share ontologies with ANKRD2: view

Pathways & Interactions for ANKRD2 Gene

SuperPathways for ANKRD2 Gene

No Data Available

SIGNOR curated interactions for ANKRD2 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for ANKRD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IGI 24434510
GO:0001817 regulation of cytokine production IEA --
GO:0006357 regulation of transcription by RNA polymerase II IBA --
GO:0006936 muscle contraction NAS 10873377
GO:0007517 muscle organ development NAS 11444853
genes like me logo Genes that share ontologies with ANKRD2: view

No data available for Pathways by source for ANKRD2 Gene

Drugs & Compounds for ANKRD2 Gene

No Compound Related Data Available

Transcripts for ANKRD2 Gene

Unigene Clusters for ANKRD2 Gene

Ankyrin repeat domain 2 (stretch responsive muscle):
Representative Sequences:

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ANKRD2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b
SP1:
SP2: -

Relevant External Links for ANKRD2 Gene

GeneLoc Exon Structure for
ANKRD2
ECgene alternative splicing isoforms for
ANKRD2

Expression for ANKRD2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ANKRD2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ANKRD2 Gene

This gene is overexpressed in Muscle - Skeletal (x30.8) and Heart - Left Ventricle (x18.3).

Protein differential expression in normal tissues from HIPED for ANKRD2 Gene

This gene is overexpressed in Heart (35.0), Tonsil (17.3), and Oral epithelium (15.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ANKRD2 Gene



Protein tissue co-expression partners for ANKRD2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ANKRD2 Gene:

ANKRD2

SOURCE GeneReport for Unigene cluster for ANKRD2 Gene:

Hs.73708

mRNA Expression by UniProt/SwissProt for ANKRD2 Gene:

Q9GZV1-ANKR2_HUMAN
Tissue specificity: Mostly expressed in skeletal and cardiac muscles. Found in slow fibers. Also expressed in kidney, but to a lower extent (at protein level).

Evidence on tissue expression from TISSUES for ANKRD2 Gene

  • Muscle(4.9)
  • Heart(4.5)
genes like me logo Genes that share expression patterns with ANKRD2: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ANKRD2 Gene

Orthologs for ANKRD2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ANKRD2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ANKRD2 34 33
  • 99.35 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ANKRD2 34 33
  • 87.96 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ANKRD2 34 33
  • 86.87 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ankrd2 16 34 33
  • 85.47 (n)
rat
(Rattus norvegicus)
Mammalia Ankrd2 33
  • 83.64 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ANKRD2 34
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ANKRD2 34
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves ANKRD2 34 33
  • 69.69 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ANKRD2 34
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ankrd2 33
  • 64.42 (n)
Str.12117 33
African clawed frog
(Xenopus laevis)
Amphibia ankrd2-prov 33
zebrafish
(Danio rerio)
Actinopterygii LOC101886079 33
  • 56.64 (n)
ankrd2 34
  • 51 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 27 (a)
OneToMany
Species where no ortholog for ANKRD2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 ANKRD2 Gene

ENSEMBL:
Gene Tree for ANKRD2 (if available)
TreeFam:
Gene Tree for ANKRD2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ANKRD2: view image

Paralogs for ANKRD2 Gene

Paralogs for ANKRD2 Gene

(9) SIMAP similar genes for ANKRD2 Gene using alignment to 2 proteins:

  • ANKR2_HUMAN
  • Q5T457_HUMAN
genes like me logo Genes that share paralogs with ANKRD2: view

Variants for ANKRD2 Gene

Sequence variations from dbSNP and Humsavar for ANKRD2 Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs1000304628 -- 97,570,965(+) C/T upstream_transcript_variant
rs1000362212 -- 97,571,155(+) C/T upstream_transcript_variant
rs1000422942 -- 97,581,263(+) C/T intron_variant
rs1000838610 -- 97,583,872(+) C/T 3_prime_UTR_variant
rs1001387327 -- 97,581,250(+) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ANKRD2 Gene

Variant ID Type Subtype PubMed ID
nsv1036494 CNV gain 25217958
nsv1047359 CNV gain 25217958
nsv1110852 OTHER inversion 24896259
nsv7509 CNV insertion 18451855
nsv818782 CNV loss 17921354

Variation tolerance for ANKRD2 Gene

Residual Variation Intolerance Score: 66% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.73; 32.79% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ANKRD2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ANKRD2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ANKRD2 Gene

Disorders for ANKRD2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ANKRD2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
dilated cardiomyopathy
  • cardiomyopathy, familial idiopathic
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ANKRD2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ANKRD2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ANKRD2 Gene

Publications for ANKRD2 Gene

  1. The Ankrd2 protein, a link between the sarcomere and the nucleus in skeletal muscle. (PMID: 15136035) Kojic S … Faulkner G (Journal of molecular biology 2004) 2 3 4 22 58
  2. Identification of Ankrd2, a novel skeletal muscle gene coding for a stretch-responsive ankyrin-repeat protein. (PMID: 10873377) Kemp TJ … Coulton GR (Genomics 2000) 2 3 4 22 58
  3. Multi-tasking role of the mechanosensing protein Ankrd2 in the signaling network of striated muscle. (PMID: 22016770) Belgrano A … Faulkner G (PloS one 2011) 3 4 58
  4. Ankrd2/ARPP is a novel Akt2 specific substrate and regulates myogenic differentiation upon cellular exposure to H(2)O(2). (PMID: 21737686) Cenni V … Marmiroli S (Molecular biology of the cell 2011) 3 4 58
  5. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A … Goate A (American journal of human genetics 2006) 3 44 58

Products for ANKRD2 Gene

Sources for ANKRD2 Gene

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