Aliases for ANKRD40 Gene

Aliases for ANKRD40 Gene

  • Ankyrin Repeat Domain 40 2 3 5
  • Ankyrin Repeat Domain-Containing Protein 40 3 4
  • MGC15396 2
  • ANKRD40 5

External Ids for ANKRD40 Gene

Previous GeneCards Identifiers for ANKRD40 Gene

  • GC17M046128
  • GC17M048770
  • GC17M044137

Summaries for ANKRD40 Gene

GeneCards Summary for ANKRD40 Gene

ANKRD40 (Ankyrin Repeat Domain 40) is a Protein Coding gene. An important paralog of this gene is ANKRD40CL.

Additional gene information for ANKRD40 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 ANKRD40 Gene

Genomics for ANKRD40 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ANKRD40 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ANKRD40 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ANKRD40

Top Transcription factor binding sites by QIAGEN in the ANKRD40 gene promoter:
  • AML1a
  • AP-1
  • AP-4
  • E47
  • MAZR
  • Pax-3
  • RREB-1
  • Tal-1
  • Tal-1beta

Genomic Locations for ANKRD40 Gene

Genomic Locations for ANKRD40 Gene
14,720 bases
Minus strand
14,735 bases
Minus strand

Genomic View for ANKRD40 Gene

Genes around ANKRD40 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ANKRD40 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ANKRD40 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ANKRD40 Gene

Proteins for ANKRD40 Gene

  • Protein details for ANKRD40 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Ankyrin repeat domain-containing protein 40
    Protein Accession:
    Secondary Accessions:
    • Q96E32

    Protein attributes for ANKRD40 Gene

    368 amino acids
    Molecular mass:
    41088 Da
    Quaternary structure:
    No Data Available

neXtProt entry for ANKRD40 Gene

Post-translational modifications for ANKRD40 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ANKRD40 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ANKRD40 Gene

Domains & Families for ANKRD40 Gene

Gene Families for ANKRD40 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ANKRD40 Gene

  • Ankyrin repeat signature

Suggested Antigen Peptide Sequences for ANKRD40 Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ94665 (A8IK34_HUMAN)
  • Ankyrin repeat domain-containing protein 40 (ANR40_HUMAN)
genes like me logo Genes that share domains with ANKRD40: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ANKRD40 Gene

Function for ANKRD40 Gene

Phenotypes From GWAS Catalog for ANKRD40 Gene

Gene Ontology (GO) - Molecular Function for ANKRD40 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with ANKRD40: view
genes like me logo Genes that share phenotypes with ANKRD40: view

Animal Model Products

CRISPR Products

miRNA for ANKRD40 Gene

miRTarBase miRNAs that target ANKRD40

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ANKRD40

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ANKRD40 Gene

Localization for ANKRD40 Gene

Subcellular locations from

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 ANKRD40 gene
Compartment Confidence
cytosol 3
nucleus 2
golgi apparatus 2
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Golgi apparatus (2)
  • Nucleoli fibrillar center (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ANKRD40 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
genes like me logo Genes that share ontologies with ANKRD40: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for ANKRD40 Gene

Pathways & Interactions for ANKRD40 Gene

PathCards logo

SuperPathways for ANKRD40 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ANKRD40 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with ANKRD40: view

No data available for Pathways by source and SIGNOR curated interactions for ANKRD40 Gene

Drugs & Compounds for ANKRD40 Gene

No Compound Related Data Available

Transcripts for ANKRD40 Gene

mRNA/cDNA for ANKRD40 Gene

6 NCBI additional mRNA sequence :
3 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 ANKRD40

Alternative Splicing Database (ASD) splice patterns (SP) for ANKRD40 Gene

No ASD Table

Relevant External Links for ANKRD40 Gene

GeneLoc Exon Structure for

Expression for ANKRD40 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ANKRD40 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ANKRD40 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x5.6).

Protein differential expression in normal tissues from HIPED for ANKRD40 Gene

This gene is overexpressed in Platelet (45.7) and Spleen (15.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ANKRD40 Gene

Protein tissue co-expression partners for ANKRD40 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ANKRD40

SOURCE GeneReport for Unigene cluster for ANKRD40 Gene:


Evidence on tissue expression from TISSUES for ANKRD40 Gene

  • Nervous system(2.7)
  • Muscle(2.5)
genes like me logo Genes that share expression patterns with ANKRD40: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ANKRD40 Gene

Orthologs for ANKRD40 Gene

This gene was present in the common ancestor of animals.

Orthologs for ANKRD40 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ANKRD40 30 31
  • 99.73 (n)
(Bos Taurus)
Mammalia ANKRD40 30 31
  • 92.97 (n)
(Canis familiaris)
Mammalia ANKRD40 30 31
  • 91.03 (n)
(Rattus norvegicus)
Mammalia Ankrd40 30
  • 90.36 (n)
(Mus musculus)
Mammalia Ankrd40 30 17 31
  • 89.99 (n)
(Monodelphis domestica)
Mammalia ANKRD40 31
  • 87 (a)
(Ornithorhynchus anatinus)
Mammalia ANKRD40 31
  • 68 (a)
(Gallus gallus)
Aves ANKRD40 30 31
  • 59.3 (n)
(Anolis carolinensis)
Reptilia ANKRD40 31
  • 60 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ankrd40 30
  • 61.64 (n)
(Danio rerio)
Actinopterygii LOC100005118 30
  • 60.42 (n)
ankrd40 31
  • 48 (a)
(Caenorhabditis elegans)
Secernentea R31.2 31
  • 14 (a)
Species where no ortholog for ANKRD40 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)
  • 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 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)

Evolution for ANKRD40 Gene

Gene Tree for ANKRD40 (if available)
Gene Tree for ANKRD40 (if available)
Evolutionary constrained regions (ECRs) for ANKRD40: view image

Paralogs for ANKRD40 Gene

Paralogs for ANKRD40 Gene Pseudogenes for ANKRD40 Gene

genes like me logo Genes that share paralogs with ANKRD40: view

Variants for ANKRD40 Gene

Additional dbSNP identifiers (rs#s) for ANKRD40 Gene

Structural Variations from Database of Genomic Variants (DGV) for ANKRD40 Gene

Variant ID Type Subtype PubMed ID
dgv42n68 CNV loss 17160897
esv2242752 CNV deletion 18987734
esv2716039 CNV deletion 23290073
nsv111922 CNV deletion 16902084
nsv474026 CNV novel sequence insertion 20440878

Variation tolerance for ANKRD40 Gene

Residual Variation Intolerance Score: 30.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.54; 64.88% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ANKRD40 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

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 ANKRD40 Gene

Disorders for ANKRD40 Gene

Additional Disease Information for ANKRD40

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform

No disorders were found for ANKRD40 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ANKRD40 Gene

Publications for ANKRD40 Gene

  1. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41
  2. 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
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations. (PMID: 31515488) Fragoza R … Yu H (Nature communications 2019) 3

Products for ANKRD40 Gene

  • Biorbyt antibodies for ANKRD40

Sources for ANKRD40 Gene