This gene is a member of the muscle ankyrin repeat protein (MARP) family and encodes a protein with four tandem ankyrin-like repeats. The protein is localized to the nucleus, functioning as a transcriptional regulator. Expression of this protein is induced during recovery following starvation. [provided by RefSeq, Jul 2008] See more...

Aliases for ANKRD23 Gene

Aliases for ANKRD23 Gene

  • Ankyrin Repeat Domain 23 2 3 5
  • DARP 2 3 4
  • Ankyrin Repeat Domain-Containing Protein 23 3 4
  • Diabetes Related Ankyrin Repeat Protein 2 3
  • Muscle Ankyrin Repeat Protein 3 3 4
  • MARP3 2 3
  • Diabetes-Related Ankyrin Repeat Protein 4
  • FLJ32449 2
  • ANKRD23 5

External Ids for ANKRD23 Gene

Previous GeneCards Identifiers for ANKRD23 Gene

  • GC02M096988
  • GC02M096925
  • GC02M096867
  • GC02M097490
  • GC02M091464

Summaries for ANKRD23 Gene

Entrez Gene Summary for ANKRD23 Gene

  • This gene is a member of the muscle ankyrin repeat protein (MARP) family and encodes a protein with four tandem ankyrin-like repeats. The protein is localized to the nucleus, functioning as a transcriptional regulator. Expression of this protein is induced during recovery following starvation. [provided by RefSeq, Jul 2008]

GeneCards Summary for ANKRD23 Gene

ANKRD23 (Ankyrin Repeat Domain 23) is a Protein Coding gene. Diseases associated with ANKRD23 include Glioblastoma Proneural Subtype and Tibial Muscular Dystrophy. Gene Ontology (GO) annotations related to this gene include titin binding.

UniProtKB/Swiss-Prot Summary for ANKRD23 Gene

  • May be involved in the energy metabolism. Could be a molecular link between myofibrillar stretch-induced signaling pathways and muscle gene expression.

Gene Wiki entry for ANKRD23 Gene

Additional gene information for ANKRD23 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ANKRD23 Gene

Genomics for ANKRD23 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ANKRD23 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
GH02J096856 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 600.7 -0.6 -560 3.8 SP1 HNRNPL CREB1 CTCF PRDM10 IKZF1 NFKBIZ ZNF692 POLR2A BACH1 ANKRD23 ANKRD39 SNRNP200 KANSL3 ANKRD36 ANKRD36B CNNM3 ACTR1B CIAO1 SEMA4C
GH02J096843 Promoter/Enhancer 1 EPDnew Ensembl ENCODE 600.4 +14.6 14633 1.8 ZIC2 POLR2A PAF1 GLIS1 NBN lnc-ANKRD23-1 ANKRD23 LMAN2L ANKRD39 CNNM3
GH02J096853 Promoter 0.3 EPDnew 600.7 +4.4 4383 0.1 ANKRD23 ANKRD39 lnc-ANKRD23-1 CNNM3
GH02J096905 Enhancer 1 ENCODE CraniofacialAtlas dbSUPER 13.1 -49.3 -49286 2.5 RFX5 ZIC2 SP1 SCRT2 ZFX RNF2 USF1 YY1 ZNF217 NR2F2 FAM178B SEMA4C ANKRD23 ANKRD39 SNRNP200 ENSG00000286654 HSALNG0017094
GH02J096908 Enhancer 0.3 Ensembl dbSUPER 12 -51.8 -51767 0.6 SEMA4C ANKRD23 ANKRD39 FAM178B SNRNP200 ENSG00000286654 HSALNG0017094
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ANKRD23 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ANKRD23

Top Transcription factor binding sites by QIAGEN in the ANKRD23 gene promoter:
  • AML1a
  • AP-4
  • C/EBPbeta
  • E47
  • Elk-1
  • HTF
  • p53
  • Pax-5
  • SRF
  • SRF (504 AA)

Genomic Locations for ANKRD23 Gene

Genomic Locations for ANKRD23 Gene
chr2:96,824,526-96,857,934
(GRCh38/hg38)
Size:
33,409 bases
Orientation:
Minus strand
chr2:97,490,263-97,523,671
(GRCh37/hg19)
Size:
33,409 bases
Orientation:
Minus strand

Genomic View for ANKRD23 Gene

Genes around ANKRD23 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ANKRD23 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ANKRD23 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ANKRD23 Gene

Proteins for ANKRD23 Gene

  • Protein details for ANKRD23 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86SG2-ANR23_HUMAN
    Recommended name:
    Ankyrin repeat domain-containing protein 23
    Protein Accession:
    Q86SG2
    Secondary Accessions:
    • Q711K7
    • Q8NAJ7

    Protein attributes for ANKRD23 Gene

    Size:
    305 amino acids
    Molecular mass:
    34297 Da
    Quaternary structure:
    • Interacts with titin/TTN and MYPN.

    Alternative splice isoforms for ANKRD23 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ANKRD23 Gene

Post-translational modifications for ANKRD23 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ANKRD23 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ANKRD23 Gene

Domains & Families for ANKRD23 Gene

Gene Families for ANKRD23 Gene

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

Protein Domains for ANKRD23 Gene

InterPro:
Blocks:
  • Ankyrin repeat signature
ProtoNet:

Suggested Antigen Peptide Sequences for ANKRD23 Gene

GenScript: Design optimal peptide antigens:
  • Muscle ankyrin repeat protein 3 (ANR23_HUMAN)
genes like me logo Genes that share domains with ANKRD23: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ANKRD23 Gene

Function for ANKRD23 Gene

Molecular function for ANKRD23 Gene

UniProtKB/Swiss-Prot Function:
May be involved in the energy metabolism. Could be a molecular link between myofibrillar stretch-induced signaling pathways and muscle gene expression.

Phenotypes From GWAS Catalog for ANKRD23 Gene

Gene Ontology (GO) - Molecular Function for ANKRD23 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
GO:0031432 titin binding IPI 14583192
genes like me logo Genes that share ontologies with ANKRD23: view
genes like me logo Genes that share phenotypes with ANKRD23: view

Animal Models for ANKRD23 Gene

MGI Knock Outs for ANKRD23:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ANKRD23

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ANKRD23 Gene

Localization for ANKRD23 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ANKRD23 Gene

Nucleus. Note=Sarcomeric I-band and some intercalated disks. {ECO:0000250}.

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 ANKRD23 gene
Compartment Confidence
nucleus 5
cytosol 5
cytoskeleton 4
plasma membrane 1
extracellular 1
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ANKRD23 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005829 cytosol IDA --
GO:0014704 intercalated disc IEA --
GO:0015629 actin cytoskeleton IDA --
genes like me logo Genes that share ontologies with ANKRD23: view

Pathways & Interactions for ANKRD23 Gene

PathCards logo

SuperPathways for ANKRD23 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ANKRD23 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009612 response to mechanical stimulus IEA --
genes like me logo Genes that share ontologies with ANKRD23: view

No data available for Pathways by source and SIGNOR curated interactions for ANKRD23 Gene

Drugs & Compounds for ANKRD23 Gene

No Compound Related Data Available

Transcripts for ANKRD23 Gene

mRNA/cDNA for ANKRD23 Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
6 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 ANKRD23

Alternative Splicing Database (ASD) splice patterns (SP) for ANKRD23 Gene

No ASD Table

Relevant External Links for ANKRD23 Gene

GeneLoc Exon Structure for
ANKRD23

Expression for ANKRD23 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ANKRD23 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ANKRD23 Gene

This gene is overexpressed in Muscle - Skeletal (x28.9).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ANKRD23

SOURCE GeneReport for Unigene cluster for ANKRD23 Gene:

Hs.643430

mRNA Expression by UniProt/SwissProt for ANKRD23 Gene:

Q86SG2-ANR23_HUMAN
Tissue specificity: Mainly expressed in heart, skeletal muscle and brown adipose tissues.

Evidence on tissue expression from TISSUES for ANKRD23 Gene

  • Muscle(4.8)
  • Heart(2.2)
genes like me logo Genes that share expression patterns with ANKRD23: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for ANKRD23 Gene

Orthologs for ANKRD23 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ANKRD23 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ANKRD23 30 31
  • 99.56 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ankrd23 30 17 31
  • 86.12 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ANKRD23 30
  • 85.53 (n)
Rat
(Rattus norvegicus)
Mammalia Ankrd23 30
  • 85.25 (n)
Cow
(Bos Taurus)
Mammalia ANKRD23 30 31
  • 83.33 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ANKRD23 31
  • 73 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ANKRD23 31
  • 53 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii gabpb1 31
  • 9 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 23 (a)
OneToMany
Species where no ortholog for ANKRD23 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)
  • Platypus (Ornithorhynchus anatinus)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for ANKRD23 Gene

ENSEMBL:
Gene Tree for ANKRD23 (if available)
TreeFam:
Gene Tree for ANKRD23 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ANKRD23: view image

Paralogs for ANKRD23 Gene

(3) SIMAP similar genes for ANKRD23 Gene using alignment to 1 proteins:

  • ANR23_HUMAN
genes like me logo Genes that share paralogs with ANKRD23: view

No data available for Paralogs for ANKRD23 Gene

Variants for ANKRD23 Gene

Additional dbSNP identifiers (rs#s) for ANKRD23 Gene

Structural Variations from Database of Genomic Variants (DGV) for ANKRD23 Gene

Variant ID Type Subtype PubMed ID
dgv607e201 CNV deletion 23290073
esv3425717 CNV duplication 20981092
esv5003 OTHER complex 18987735
nsv1135873 CNV deletion 24896259
nsv526313 CNV loss 19592680

Variation tolerance for ANKRD23 Gene

Residual Variation Intolerance Score: 36.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.40; 54.29% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ANKRD23 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ANKRD23

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ANKRD23 Gene

Disorders for ANKRD23 Gene

MalaCards: The human disease database

(4) MalaCards diseases for ANKRD23 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
glioblastoma proneural subtype
tibial muscular dystrophy
  • tibial muscular dystrophy, tardive
total anomalous pulmonary venous return 1
  • tapvr1
dilated cardiomyopathy
  • cardiomyopathy, familial idiopathic
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with ANKRD23: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ANKRD23 Gene

Publications for ANKRD23 Gene

  1. Molecular identification and characterization of a novel nuclear protein whose expression is up-regulated in insulin-resistant animals. (PMID: 12456686) Ikeda K … Yokoyama M (The Journal of biological chemistry 2003) 2 3 4
  2. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. Altered titin expression, myocardial stiffness, and left ventricular function in patients with dilated cardiomyopathy. (PMID: 15238456) Nagueh SF … Granzier HL (Circulation 2004) 3 23

Products for ANKRD23 Gene

Sources for ANKRD23 Gene