Aliases for APOBEC2 Gene

Aliases for APOBEC2 Gene

  • Apolipoprotein B MRNA Editing Enzyme Catalytic Subunit 2 2 3 5
  • Apolipoprotein B MRNA Editing Enzyme, Catalytic Polypeptide-Like 2 2 3
  • MRNA(Cytosine(6666)) Deaminase 2 3 4
  • C->U-Editing Enzyme APOBEC-2 3 4
  • ARCD1 2 3
  • ARP1 2 3
  • Apolipoprotein B MRNA Editing Enzyme, Catalytic Polypeptide 2 3
  • Probable C->U-Editing Enzyme APOBEC-2 3
  • EC 3.5.4.36 4
  • EC 3.5.4 51
  • APOBEC2 5

External Ids for APOBEC2 Gene

Previous GeneCards Identifiers for APOBEC2 Gene

  • GC06P041023
  • GC06P041067
  • GC06P041128
  • GC06P041020
  • GC06P040738

Summaries for APOBEC2 Gene

GeneCards Summary for APOBEC2 Gene

APOBEC2 (Apolipoprotein B MRNA Editing Enzyme Catalytic Subunit 2) is a Protein Coding gene. Diseases associated with APOBEC2 include Immunodeficiency With Hyper-Igm, Type 2. Among its related pathways are Gene Expression and mRNA Editing- C to U Conversion. Gene Ontology (GO) annotations related to this gene include RNA binding and cytidine deaminase activity. An important paralog of this gene is APOBEC3F.

UniProtKB/Swiss-Prot Summary for APOBEC2 Gene

  • Probable C to U editing enzyme whose physiological substrate is not yet known. Does not display detectable apoB mRNA editing. Has a low intrinsic cytidine deaminase activity. May play a role in the epigenetic regulation of gene expression through the process of active DNA demethylation.

Gene Wiki entry for APOBEC2 Gene

Additional gene information for APOBEC2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for APOBEC2 Gene

Genomics for APOBEC2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for APOBEC2 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 APOBEC2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for APOBEC2

Top Transcription factor binding sites by QIAGEN in the APOBEC2 gene promoter:
  • AP-2alpha
  • AP-2alphaA
  • AP-2beta
  • AP-4
  • CUTL1
  • GATA-1
  • NF-kappaB1
  • Pax-4a
  • Roaz

Genomic Locations for APOBEC2 Gene

Genomic Locations for APOBEC2 Gene
chr6:41,053,201-41,064,891
(GRCh38/hg38)
Size:
11,691 bases
Orientation:
Plus strand
chr6:41,020,940-41,032,630
(GRCh37/hg19)
Size:
11,691 bases
Orientation:
Plus strand

Genomic View for APOBEC2 Gene

Genes around APOBEC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
APOBEC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for APOBEC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for APOBEC2 Gene

Proteins for APOBEC2 Gene

  • Protein details for APOBEC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y235-ABEC2_HUMAN
    Recommended name:
    C->U-editing enzyme APOBEC-2
    Protein Accession:
    Q9Y235
    Secondary Accessions:
    • B2R899
    • Q53F28
    • Q5TGU5
    • Q5TGU6

    Protein attributes for APOBEC2 Gene

    Size:
    224 amino acids
    Molecular mass:
    25703 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Homotetramer.

    Three dimensional structures from OCA and Proteopedia for APOBEC2 Gene

neXtProt entry for APOBEC2 Gene

Selected DME Specific Peptides for APOBEC2 Gene

Q9Y235:
  • VTWYVSSSPCAACADRI
  • LPPFEIVTG
  • GYLEDEHA
  • HAEEAFFN

Post-translational modifications for APOBEC2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for APOBEC2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for APOBEC2 Gene

Gene Families for APOBEC2 Gene

Protein Domains for APOBEC2 Gene

InterPro:
Blocks:
  • Cytidine/deoxycytidylate deaminase, zinc-binding region
  • APOBEC-like, C-terminal
ProtoNet:

Suggested Antigen Peptide Sequences for APOBEC2 Gene

GenScript: Design optimal peptide antigens:
  • Probable C->U-editing enzyme APOBEC-2 (ABEC2_HUMAN)
  • cDNA FLJ51098 (B4DUL0_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y235

UniProtKB/Swiss-Prot:

ABEC2_HUMAN :
  • Belongs to the cytidine and deoxycytidylate deaminase family.
Family:
  • Belongs to the cytidine and deoxycytidylate deaminase family.
genes like me logo Genes that share domains with APOBEC2: view

Function for APOBEC2 Gene

Molecular function for APOBEC2 Gene

UniProtKB/Swiss-Prot Function:
Probable C to U editing enzyme whose physiological substrate is not yet known. Does not display detectable apoB mRNA editing. Has a low intrinsic cytidine deaminase activity. May play a role in the epigenetic regulation of gene expression through the process of active DNA demethylation.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=cytidine(6666) in apoB mRNA + H(+) + H2O = NH4(+) + uridine(6666) in apoB mRNA; Xref=Rhea:RHEA:21772, Rhea:RHEA-COMP:13888, Rhea:RHEA-COMP:13889, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:28938, ChEBI:CHEBI:65315, ChEBI:CHEBI:82748; EC=3.5.4.36; Evidence={ECO:0000269|PubMed:17187054};.
GENATLAS Biochemistry:
apolipoprotein B,mRNA editing enzyme,catalytic polypeptide 2,expressed exclusively in heart and skeletal muscle

Enzyme Numbers (IUBMB) for APOBEC2 Gene

Phenotypes From GWAS Catalog for APOBEC2 Gene

Gene Ontology (GO) - Molecular Function for APOBEC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding TAS,IBA 21873635
GO:0003824 catalytic activity IEA --
GO:0004126 cytidine deaminase activity IDA 10403781
GO:0016787 hydrolase activity IEA --
GO:0042802 identical protein binding IPI 17187054
genes like me logo Genes that share ontologies with APOBEC2: view
genes like me logo Genes that share phenotypes with APOBEC2: view

Animal Models for APOBEC2 Gene

MGI Knock Outs for APOBEC2:

Animal Model Products

  • Taconic Biosciences Mouse Models for APOBEC2

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for APOBEC2

No data available for Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for APOBEC2 Gene

Localization for APOBEC2 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 APOBEC2 gene
Compartment Confidence
nucleus 4
cytosol 3
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
golgi apparatus 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for APOBEC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
GO:0005737 cytoplasm IBA 21873635
genes like me logo Genes that share ontologies with APOBEC2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for APOBEC2 Gene

Pathways & Interactions for APOBEC2 Gene

PathCards logo

SuperPathways for APOBEC2 Gene

genes like me logo Genes that share pathways with APOBEC2: view

Pathways by source for APOBEC2 Gene

Gene Ontology (GO) - Biological Process for APOBEC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006397 mRNA processing IEA --
GO:0009972 cytidine deamination IEA --
GO:0016554 cytidine to uridine editing IDA 10403781
GO:0016556 mRNA modification IEA --
GO:0080111 DNA demethylation IDA 21496894
genes like me logo Genes that share ontologies with APOBEC2: view

No data available for SIGNOR curated interactions for APOBEC2 Gene

Drugs & Compounds for APOBEC2 Gene

(1) Drugs for APOBEC2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for APOBEC2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with APOBEC2: view

Transcripts for APOBEC2 Gene

mRNA/cDNA for APOBEC2 Gene

1 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
1 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 APOBEC2

Alternative Splicing Database (ASD) splice patterns (SP) for APOBEC2 Gene

No ASD Table

Relevant External Links for APOBEC2 Gene

GeneLoc Exon Structure for
APOBEC2

Expression for APOBEC2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for APOBEC2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for APOBEC2 Gene

This gene is overexpressed in Muscle - Skeletal (x26.9), Heart - Left Ventricle (x17.0), and Heart - Atrial Appendage (x5.4).

Protein differential expression in normal tissues from HIPED for APOBEC2 Gene

This gene is overexpressed in Esophagus (22.3), Fetal heart (19.4), Heart (12.1), and Tonsil (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for APOBEC2 Gene



Protein tissue co-expression partners for APOBEC2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for APOBEC2

SOURCE GeneReport for Unigene cluster for APOBEC2 Gene:

Hs.555915

mRNA Expression by UniProt/SwissProt for APOBEC2 Gene:

Q9Y235-ABEC2_HUMAN
Tissue specificity: Expressed exclusively in heart and skeletal muscle.

Evidence on tissue expression from TISSUES for APOBEC2 Gene

  • Muscle(4.8)
  • Heart(4.6)
  • Pancreas(4.3)
  • Nervous system(4.3)
  • Blood(2.1)
genes like me logo Genes that share expression patterns with APOBEC2: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for APOBEC2 Gene

Orthologs for APOBEC2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for APOBEC2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia APOBEC2 30 31
  • 99.4 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia APOBEC2 30 31
  • 89.14 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia APOBEC2 31
  • 88 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Apobec2 30 17 31
  • 87.95 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Apobec2 30
  • 87.95 (n)
Cow
(Bos Taurus)
Mammalia APOBEC2 30 31
  • 86.76 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia APOBEC2 31
  • 85 (a)
OneToOne
Chicken
(Gallus gallus)
Aves APOBEC2 30 31
  • 73.56 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia APOBEC2 31
  • 66 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia apobec2 30
  • 60.78 (n)
Str.11906 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.5876 30
Zebrafish
(Danio rerio)
Actinopterygii apobec2a 30 31
  • 64.18 (n)
OneToMany
APOBEC2 (2 of 2) 31
  • 46 (a)
OneToMany
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2129 30
Species where no ortholog for APOBEC2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • 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)
  • Worm (Caenorhabditis elegans)

Evolution for APOBEC2 Gene

ENSEMBL:
Gene Tree for APOBEC2 (if available)
TreeFam:
Gene Tree for APOBEC2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for APOBEC2: view image

Paralogs for APOBEC2 Gene

(10) SIMAP similar genes for APOBEC2 Gene using alignment to 1 proteins:

  • ABEC2_HUMAN
genes like me logo Genes that share paralogs with APOBEC2: view

Variants for APOBEC2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for APOBEC2 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
783754 Benign: not provided 41,061,791(+) T/C MISSENSE_VARIANT
rs2076472 - p.Ile136Thr

Additional dbSNP identifiers (rs#s) for APOBEC2 Gene

Structural Variations from Database of Genomic Variants (DGV) for APOBEC2 Gene

Variant ID Type Subtype PubMed ID
nsv526577 CNV loss 19592680

Variation tolerance for APOBEC2 Gene

Residual Variation Intolerance Score: 56% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.60; 78.11% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for APOBEC2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
APOBEC2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for APOBEC2 Gene

Disorders for APOBEC2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for APOBEC2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
immunodeficiency with hyper-igm, type 2
  • higm2
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for APOBEC2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with APOBEC2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for APOBEC2 Gene

Publications for APOBEC2 Gene

  1. APOBEC-2, a cardiac- and skeletal muscle-specific member of the cytidine deaminase supergene family. (PMID: 10403781) Liao W … Chan L (Biochemical and biophysical research communications 1999) 2 3 4 23
  2. The APOBEC-2 crystal structure and functional implications for the deaminase AID. (PMID: 17187054) Prochnow C … Chen XS (Nature 2007) 3 4 23
  3. Hydroxylation of 5-methylcytosine by TET1 promotes active DNA demethylation in the adult brain. (PMID: 21496894) Guo JU … Song H (Cell 2011) 3 4
  4. Gender differences in genetic risk profiles for cardiovascular disease. (PMID: 18974842) Silander K … Peltonen L (PloS one 2008) 3 41
  5. 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

Products for APOBEC2 Gene

Sources for APOBEC2 Gene