Aliases for ANKRD42 Gene

Aliases for ANKRD42 Gene

  • Ankyrin Repeat Domain 42 2 3 5
  • Protein Phosphatase 1, Regulatory Subunit 79 2 3
  • Ankyrin Repeat Domain-Containing Protein 42 3 4
  • Several Ankyrin Repeat Protein 3
  • PPP1R79 3
  • SARP 3

External Ids for ANKRD42 Gene

Previous GeneCards Identifiers for ANKRD42 Gene

  • GC11P082583
  • GC11P082904
  • GC11P079202

Summaries for ANKRD42 Gene

GeneCards Summary for ANKRD42 Gene

ANKRD42 (Ankyrin Repeat Domain 42) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include structural constituent of ribosome and NF-kappaB binding. An important paralog of this gene is ANKRD37.

Additional gene information for ANKRD42 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 ANKRD42 Gene

Genomics for ANKRD42 Gene

GeneHancer (GH) Regulatory Elements for ANKRD42 Gene

Promoters and enhancers for ANKRD42 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
GH11J083191 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 500.7 +0.1 70 4.4 FOXK2 ZBTB40 ZNF217 EP300 SIN3A NRF1 POLR2G PHF8 FOS ZFX ANKRD42 ENSG00000247137 LOC100506282
GH11J083155 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 13 -34.4 -34394 8.2 ZBTB40 ZNF217 EP300 SIN3A NRF1 TCF12 MYC POLR2G USF1 SP1 PCF11 ENSG00000254676 ENSG00000247137 ENSG00000254551 ANKRD42 RAB30 RAB30-DT ENSG00000254522 SNORA70E ENSG00000254698
GH11J082899 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 2.5 -293.3 -293311 5.2 FOXK2 ZBTB40 ZNF217 ZSCAN5C SIN3A NRF1 TCF12 POLR2G SP1 BCLAF1 DDIAS PRCP PCF11 ANKRD42 RAB30 piR-47675-017
GH11J083472 Enhancer 0.6 Ensembl ENCODE 4.4 +279.6 279610 2 EP300 ATF2 CEBPB GATA3 ATF7 POLR2A CCDC90B ANKRD42 lnc-CCDC90B-6 lnc-CCDC90B-7
GH11J083206 Enhancer 0.5 FANTOM5 2.4 +13.4 13448 0.4 L3MBTL2 MAX ZNF316 MNT CCDC90B ENSG00000255234 RAB30 RAB30-DT PCF11 ANKRD42 CKS1BP4 ENSG00000247137 LOC100506282
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ANKRD42 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ANKRD42

Top Transcription factor binding sites by QIAGEN in the ANKRD42 gene promoter:
  • Elk-1
  • HOXA9
  • HOXA9B
  • Lmo2
  • Olf-1
  • POU2F1
  • POU2F1a
  • POU2F1b
  • POU2F1c

Genomic Locations for ANKRD42 Gene

Genomic Locations for ANKRD42 Gene
chr11:83,193,712-83,260,694
(GRCh38/hg38)
Size:
66,983 bases
Orientation:
Plus strand
chr11:82,904,781-82,971,736
(GRCh37/hg19)
Size:
66,956 bases
Orientation:
Plus strand

Genomic View for ANKRD42 Gene

Genes around ANKRD42 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ANKRD42 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ANKRD42 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ANKRD42 Gene

Proteins for ANKRD42 Gene

  • Protein details for ANKRD42 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N9B4-ANR42_HUMAN
    Recommended name:
    Ankyrin repeat domain-containing protein 42
    Protein Accession:
    Q8N9B4
    Secondary Accessions:
    • Q49A49

    Protein attributes for ANKRD42 Gene

    Size:
    389 amino acids
    Molecular mass:
    43052 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for ANKRD42 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ANKRD42 Gene

Post-translational modifications for ANKRD42 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ANKRD42 Gene

Domains & Families for ANKRD42 Gene

Gene Families for ANKRD42 Gene

Protein Domains for ANKRD42 Gene

Blocks:
  • Ankyrin repeat signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ANKRD42 Gene

GenScript: Design optimal peptide antigens:
  • Ankyrin repeat domain-containing protein 42 (ANR42_HUMAN)
  • ANKRD42 protein (Q6P5R7_HUMAN)
genes like me logo Genes that share domains with ANKRD42: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ANKRD42 Gene

Function for ANKRD42 Gene

Phenotypes From GWAS Catalog for ANKRD42 Gene

Phenotypes for ANKRD42 Gene

genes like me logo Genes that share phenotypes with ANKRD42: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ANKRD42 Gene

Localization for ANKRD42 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 ANKRD42 gene
Compartment Confidence
nucleus 3
cytosol 3
plasma membrane 2
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
  • Plasma membrane (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for ANKRD42 Gene

Pathways & Interactions for ANKRD42 Gene

PathCards logo

SuperPathways for ANKRD42 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ANKRD42 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for ANKRD42 Gene

Drugs & Compounds for ANKRD42 Gene

No Compound Related Data Available

Transcripts for ANKRD42 Gene

mRNA/cDNA for ANKRD42 Gene

6 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ANKRD42 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10 ^ 11 ^ 12
SP1: - - - -
SP2:
SP3: -
SP4: - -

Relevant External Links for ANKRD42 Gene

GeneLoc Exon Structure for
ANKRD42

Expression for ANKRD42 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ANKRD42 Gene

Protein differential expression in normal tissues from HIPED for ANKRD42 Gene

This gene is overexpressed in Pancreas (36.5) and Bone (27.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ANKRD42 Gene



Protein tissue co-expression partners for ANKRD42 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ANKRD42

SOURCE GeneReport for Unigene cluster for ANKRD42 Gene:

Hs.503438
genes like me logo Genes that share expression patterns with ANKRD42: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for ANKRD42 Gene

Orthologs for ANKRD42 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ANKRD42 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ANKRD42 31 30
  • 99.64 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ANKRD42 31 30
  • 89.01 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ANKRD42 31 30
  • 87.63 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ankrd42 30
  • 85.14 (n)
mouse
(Mus musculus)
Mammalia Ankrd42 17 31 30
  • 84.82 (n)
oppossum
(Monodelphis domestica)
Mammalia ANKRD42 31
  • 53 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ANKRD42 31
  • 46 (a)
OneToOne
chicken
(Gallus gallus)
Aves ANKRD42 31 30
  • 68.96 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ANKRD42 31
  • 43 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ankrd42 30
  • 65.74 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG9121 31
  • 11 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NAS6 31
  • 21 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 38 (a)
OneToOne
Cin.7381 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7381 30
Species where no ortholog for ANKRD42 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)
  • 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 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)
  • zebrafish (Danio rerio)

Evolution for ANKRD42 Gene

ENSEMBL:
Gene Tree for ANKRD42 (if available)
TreeFam:
Gene Tree for ANKRD42 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ANKRD42: view image

Paralogs for ANKRD42 Gene

Paralogs for ANKRD42 Gene

(29) SIMAP similar genes for ANKRD42 Gene using alignment to 8 proteins:

  • ANR42_HUMAN
  • E9PIL2_HUMAN
  • E9PKE2_HUMAN
  • E9PP91_HUMAN
  • E9PR10_HUMAN
  • F8W6I9_HUMAN
  • H0YE80_HUMAN
  • Q6P5R7_HUMAN
genes like me logo Genes that share paralogs with ANKRD42: view

Variants for ANKRD42 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ANKRD42 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs17515016 - p.Asn198Asp

Additional dbSNP identifiers (rs#s) for ANKRD42 Gene

Structural Variations from Database of Genomic Variants (DGV) for ANKRD42 Gene

Variant ID Type Subtype PubMed ID
esv33531 CNV loss 17666407
esv3627012 CNV gain 21293372
nsv972050 CNV duplication 23825009
nsv972051 CNV duplication 23825009

Variation tolerance for ANKRD42 Gene

Residual Variation Intolerance Score: 70.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.15; 39.10% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ANKRD42 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ANKRD42

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ANKRD42 Gene

Disorders for ANKRD42 Gene

Additional Disease Information for ANKRD42

No disorders were found for ANKRD42 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ANKRD42 Gene

Publications for ANKRD42 Gene

  1. 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 54
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  3. Systematic identification of cancer cell vulnerabilities to natural killer cell-mediated immune surveillance. (PMID: 31452512) Pech MF … Settleman J (eLife 2019) 3 54
  4. An AP-MS- and BioID-compatible MAC-tag enables comprehensive mapping of protein interactions and subcellular localizations. (PMID: 29568061) Liu X … Varjosalo M (Nature communications 2018) 3 54
  5. Identification of the human testis protein phosphatase 1 interactome. (PMID: 21382349) Fardilha M … da Cruz e Silva EF (Biochemical pharmacology 2011) 3 54

Products for ANKRD42 Gene

Sources for ANKRD42 Gene