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Aliases for ANKRD40 Gene

Aliases for ANKRD40 Gene

  • Ankyrin Repeat Domain 40 2 3 5
  • Ankyrin Repeat Domain-Containing Protein 40 3

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 , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ANKRD40 Gene

Genomics for ANKRD40 Gene

GeneHancer (GH) Regulatory Elements for ANKRD40 Gene

Promoters and enhancers for ANKRD40 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
GH17J050706 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 673.1 -0.3 -347 3.5 MLX ZFP64 DMAP1 YY1 ZNF213 E2F8 ZNF143 SP3 MEF2D SSRP1 ANKRD40 UTP18 PICART1 LOC105371824 MBTD1 ABCC3 NME2 LUC7L3
GH17J050718 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 20.6 -12.6 -12613 3.3 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 MEF2D ZNF610 GLIS1 LUC7L3 ENSG00000278963 MBTD1 ENSG00000262837 UTP18 ANKRD40 FAM117A FLJ45513 KAT7 TAC4
GH17J050683 Enhancer 1.5 Ensembl ENCODE dbSUPER 21.1 +17.4 17382 13.9 CLOCK FOXA2 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ABCC3 ANKRD40 EPN3 LUC7L3 LOC101927253 SPATA20 LOC105371824 CACNA1G-AS1 ENSG00000250976 CACNA1G
GH17J050633 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.7 +69.0 68972 10.1 PKNOX1 FOXA2 MLX ARID4B NEUROD1 SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B ABCC3 MBTD1 ENSG00000262837 CHAD ENSG00000249451 MYCBPAP CACNA1G-AS1 CACNA1G SPATA20 LOC105371824
GH17J050659 Enhancer 1.5 Ensembl ENCODE dbSUPER 17 +45.9 45944 4.8 HDGF PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZBTB7B GC17P050663 ABCC3 ANKRD40 EME1 LOC101927253 KAT7 UTP18 NME2 CACNA1G-AS1 CACNA1G
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ANKRD40 on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for ANKRD40 Gene

Genomic Locations for ANKRD40 Gene
chr17:50,693,190-50,707,924
(GRCh38/hg38)
Size:
14,735 bases
Orientation:
Minus strand
chr17:48,770,551-48,785,285
(GRCh37/hg19)
Size:
14,735 bases
Orientation:
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:
    Q6AI12-ANR40_HUMAN
    Recommended name:
    Ankyrin repeat domain-containing protein 40
    Protein Accession:
    Q6AI12
    Secondary Accessions:
    • Q96E32

    Protein attributes for ANKRD40 Gene

    Size:
    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

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

Protein Domains for ANKRD40 Gene

Suggested Antigen Peptide Sequences for ANKRD40 Gene

Graphical View of Domain Structure for InterPro Entry

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

No data available for 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

miRNA for ANKRD40 Gene

miRTarBase miRNAs that target ANKRD40

Clone Products

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

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 ANKRD40 gene
Compartment Confidence
cytosol 4
nucleus 3
golgi apparatus 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Golgi apparatus (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

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

Unigene Clusters for ANKRD40 Gene

Ankyrin repeat domain 40:
Representative Sequences:

Clone Products

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

No ASD Table

Relevant External Links for ANKRD40 Gene

GeneLoc Exon Structure for
ANKRD40
ECgene alternative splicing isoforms for
ANKRD40

Expression for ANKRD40 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of ANKRD40 Gene:

ANKRD40

SOURCE GeneReport for Unigene cluster for ANKRD40 Gene:

Hs.463426

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
chimpanzee
(Pan troglodytes)
Mammalia ANKRD40 34 33
  • 99.73 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ANKRD40 34 33
  • 92.97 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ANKRD40 34 33
  • 91.03 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ankrd40 33
  • 90.36 (n)
mouse
(Mus musculus)
Mammalia Ankrd40 16 34 33
  • 89.99 (n)
oppossum
(Monodelphis domestica)
Mammalia ANKRD40 34
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ANKRD40 34
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves ANKRD40 34 33
  • 59.3 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ANKRD40 34
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ankrd40 33
  • 61.64 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100005118 33
  • 60.42 (n)
ankrd40 34
  • 48 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea R31.2 34
  • 14 (a)
OneToOne
Species where no ortholog for ANKRD40 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)
  • 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 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)

Evolution for ANKRD40 Gene

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

Paralogs for ANKRD40 Gene

Paralogs for ANKRD40 Gene

Pseudogenes.org Pseudogenes for ANKRD40 Gene

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

Variants for ANKRD40 Gene

Sequence variations from dbSNP and Humsavar for ANKRD40 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1000104132 -- 50,704,655(-) T/A genic_upstream_transcript_variant, intron_variant
rs1000171499 -- 50,706,018(-) A/G genic_upstream_transcript_variant, intron_variant
rs1000357228 -- 50,707,146(-) C/G genic_upstream_transcript_variant, intron_variant
rs1000389796 -- 50,707,341(-) G/C genic_upstream_transcript_variant, intron_variant
rs1000533222 -- 50,704,381(-) T/C genic_upstream_transcript_variant, intron_variant

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

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

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
ANKRD40

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ANKRD40 Gene

Disorders for ANKRD40 Gene

Additional Disease Information for ANKRD40

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

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 44 58
  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 58
  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 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. Widespread macromolecular interaction perturbations in human genetic disorders. (PMID: 25910212) Sahni N … Vidal M (Cell 2015) 3 58

Products for ANKRD40 Gene

Sources for ANKRD40 Gene

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