Aliases for ABTB2 Gene

Aliases for ABTB2 Gene

  • Ankyrin Repeat And BTB Domain Containing 2 2 3 5
  • Ankyrin Repeat And BTB/POZ Domain-Containing Protein 2 3 4
  • Ankyrin Repeat And BTB (POZ) Domain Containing 2 2 3
  • ABTB2A 3
  • BTBD22 3

External Ids for ABTB2 Gene

Previous GeneCards Identifiers for ABTB2 Gene

  • GC11M034136
  • GC11M033869

Summaries for ABTB2 Gene

GeneCards Summary for ABTB2 Gene

ABTB2 (Ankyrin Repeat And BTB Domain Containing 2) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include protein heterodimerization activity. An important paralog of this gene is BTBD11.

UniProtKB/Swiss-Prot Summary for ABTB2 Gene

Additional gene information for ABTB2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ABTB2 Gene

Genomics for ABTB2 Gene

GeneHancer (GH) Regulatory Elements for ABTB2 Gene

Promoters and enhancers for ABTB2 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
GH11J034354 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 772 +1.1 1136 6.1 ZNF24 SP1 CTCF LCORL POLR2A FOS ZNF362 MYC CC2D1A NFYC ABTB2 HSALNG0083566 ENSG00000251194 CD44-AS1 NAT10 FBXO3 CAPRIN1 CAT ELF5 LOC100216355
GH11J034416 Enhancer 1.5 Ensembl ENCODE CraniofacialAtlas dbSUPER 23.1 -67.0 -66991 19.2 ZBTB40 FOXA1 RBPJ SMARCE1 POLR2A TCF7L2 NR2F1 NR2F6 ATF1 CREB1 piR-57133-072 CAT ABTB2 CIR1P3 LOC105376622 lnc-CAT-1
GH11J034103 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.4 +252.2 252209 4 SIN3A SP1 ZBTB40 CTCF SIX5 MLX RBPJ POLR2A USF2 ATF1 NAT10 lnc-ABTB2-3 lnc-NAT10-1 CAPRIN1 FBXO3 ABTB2 piR-50437-074
GH11J034338 Enhancer 1.3 Ensembl ENCODE dbSUPER 20.7 +14.1 14138 13.7 SIN3A LCORL MLX RBPJ NR2F1 NR2F6 ATF1 CREB1 MIXL1 ZNF133 NAT10 ABTB2 FBXO3 CAT LOC100216355
GH11J034250 Promoter/Enhancer 1.7 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 15.4 +106.5 106491 1.7 MNT SP7 KLF14 FOSL2 PKNOX1 SMARCC1 CEBPB POLR2A CHD2 SP2 ABTB2 LMO2 piR-52079-034 RF00017-893
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ABTB2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ABTB2 gene promoter:
  • CUTL1
  • E47
  • Egr-1
  • FOXI1
  • HFH-3
  • MAZR
  • p53
  • PPAR-alpha
  • RP58
  • RSRFC4

Genomic Locations for ABTB2 Gene

Genomic Locations for ABTB2 Gene
chr11:34,150,987-34,358,010
(GRCh38/hg38)
Size:
207,024 bases
Orientation:
Minus strand
chr11:34,172,534-34,379,555
(GRCh37/hg19)
Size:
207,022 bases
Orientation:
Minus strand

Genomic View for ABTB2 Gene

Genes around ABTB2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABTB2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ABTB2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABTB2 Gene

Proteins for ABTB2 Gene

  • Protein details for ABTB2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N961-ABTB2_HUMAN
    Recommended name:
    Ankyrin repeat and BTB/POZ domain-containing protein 2
    Protein Accession:
    Q8N961
    Secondary Accessions:
    • A8K6S9
    • E9PRW7
    • Q52LD6
    • Q6MZW4
    • Q8NB44

    Protein attributes for ABTB2 Gene

    Size:
    1025 amino acids
    Molecular mass:
    113656 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH93968.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAC03697.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAF84433.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAF84433.1; Type=Erroneous termination; Positions=101; Note=Translated as Glu.; Evidence={ECO:0000305};

    Alternative splice isoforms for ABTB2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ABTB2 Gene

Post-translational modifications for ABTB2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ABTB2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ABTB2 Gene

Domains & Families for ABTB2 Gene

Gene Families for ABTB2 Gene

Suggested Antigen Peptide Sequences for ABTB2 Gene

GenScript: Design optimal peptide antigens:
  • Ankyrin repeat and BTB/POZ domain-containing protein 2 (ABTB2_HUMAN)
  • Ankyrin repeat and BTB (POZ) domain containing 2 (B0QYQ3_HUMAN)
genes like me logo Genes that share domains with ABTB2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ABTB2 Gene

Function for ABTB2 Gene

Molecular function for ABTB2 Gene

UniProtKB/Swiss-Prot Function:
May be involved in the initiation of hepatocyte growth.

Phenotypes From GWAS Catalog for ABTB2 Gene

Gene Ontology (GO) - Molecular Function for ABTB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IEA --
GO:0046982 protein heterodimerization activity IEA --
genes like me logo Genes that share ontologies with ABTB2: view
genes like me logo Genes that share phenotypes with ABTB2: view

Animal Models for ABTB2 Gene

MGI Knock Outs for ABTB2:
  • Abtb2 Abtb2<tm1a(KOMP)Wtsi>

Animal Model Products

CRISPR Products

miRNA for ABTB2 Gene

miRTarBase miRNAs that target ABTB2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ABTB2 Gene

Localization for ABTB2 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 ABTB2 gene
Compartment Confidence
nucleus 4
mitochondrion 2
cytosol 2
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ABTB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm IDA --
genes like me logo Genes that share ontologies with ABTB2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for ABTB2 Gene

Pathways & Interactions for ABTB2 Gene

PathCards logo

SuperPathways for ABTB2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ABTB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0097237 cellular response to toxic substance IEA --
genes like me logo Genes that share ontologies with ABTB2: view

No data available for Pathways by source and SIGNOR curated interactions for ABTB2 Gene

Drugs & Compounds for ABTB2 Gene

No Compound Related Data Available

Transcripts for ABTB2 Gene

mRNA/cDNA for ABTB2 Gene

(1) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(83) Selected AceView cDNA sequences:
(2) 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 ABTB2 Gene

No ASD Table

Relevant External Links for ABTB2 Gene

GeneLoc Exon Structure for
ABTB2
ECgene alternative splicing isoforms for
ABTB2

Expression for ABTB2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ABTB2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ABTB2 Gene

This gene is overexpressed in Salivary gland (34.1), Prostate (15.0), Retina (9.0), and Testis (8.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ABTB2 Gene



Protein tissue co-expression partners for ABTB2 Gene

NURSA nuclear receptor signaling pathways regulating expression of ABTB2 Gene:

ABTB2

SOURCE GeneReport for Unigene cluster for ABTB2 Gene:

Hs.23361

Evidence on tissue expression from TISSUES for ABTB2 Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with ABTB2: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ABTB2 Gene

Orthologs for ABTB2 Gene

This gene was present in the common ancestor of animals.

Orthologs for ABTB2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ABTB2 33 32
  • 99.25 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ABTB2 33 32
  • 92.26 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ABTB2 33 32
  • 91.9 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Abtb2 17 33 32
  • 90.1 (n)
oppossum
(Monodelphis domestica)
Mammalia ABTB2 33
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Abtb2 32
  • 89.75 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 33
  • 85 (a)
OneToMany
-- 33
  • 84 (a)
OneToMany
-- 33
  • 78 (a)
OneToMany
chicken
(Gallus gallus)
Aves ABTB2 33 32
  • 78.33 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ABTB2 33
  • 85 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii abtb2b 33
  • 69 (a)
OneToMany
LOC100007078 32
  • 68.35 (n)
BX511065.1 33
  • 64 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG43980 33 32
  • 53.83 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011728 32
  • 25.08 (n)
Species where no ortholog for ABTB2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ABTB2 Gene

ENSEMBL:
Gene Tree for ABTB2 (if available)
TreeFam:
Gene Tree for ABTB2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ABTB2: view image

Paralogs for ABTB2 Gene

Paralogs for ABTB2 Gene

(1) SIMAP similar genes for ABTB2 Gene using alignment to 1 proteins:

  • ABTB2_HUMAN
genes like me logo Genes that share paralogs with ABTB2: view

Variants for ABTB2 Gene

Sequence variations from dbSNP and Humsavar for ABTB2 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1000008634 -- 34,356,765(-) G/C coding_sequence_variant, missense_variant
rs1000029253 -- 34,296,936(-) C/A intron_variant
rs1000045925 -- 34,280,923(-) C/T intron_variant
rs1000057520 -- 34,239,435(-) A/G intron_variant
rs1000069444 -- 34,153,914(-) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ABTB2 Gene

Variant ID Type Subtype PubMed ID
dgv206n67 CNV loss 20364138
dgv207n67 CNV loss 20364138
esv24922 CNV loss 19812545
esv26380 CNV loss 19812545
esv2674695 CNV deletion 23128226
esv2678419 CNV deletion 23128226
esv2678936 CNV deletion 23128226
esv27543 CNV loss 19812545
esv2759816 CNV loss 17122850
esv2762905 CNV loss 21179565
esv29864 CNV loss 19812545
esv3302725 CNV tandem duplication 20981092
esv3579469 CNV loss 25503493
esv3625908 CNV loss 21293372
esv3625909 CNV loss 21293372
nsv1050413 CNV loss 25217958
nsv1070020 CNV deletion 25765185
nsv1126290 CNV deletion 24896259
nsv1159853 CNV deletion 26073780
nsv442225 CNV loss 18776908
nsv472449 CNV novel sequence insertion 20440878
nsv473331 CNV novel sequence insertion 20440878
nsv508622 CNV deletion 20534489
nsv509400 CNV insertion 20534489
nsv509401 CNV insertion 20534489
nsv511473 CNV loss 21212237
nsv515783 CNV loss 19592680
nsv517429 CNV loss 19592680
nsv523431 CNV loss 19592680
nsv818809 CNV loss 17921354
nsv818810 CNV loss 17921354
nsv820233 CNV loss 19587683
nsv820477 CNV duplication 20802225
nsv825834 CNV loss 20364138
nsv8806 CNV loss 18304495
nsv951600 CNV deletion 24416366

Variation tolerance for ABTB2 Gene

Residual Variation Intolerance Score: 14% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.30; 81.39% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ABTB2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ABTB2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ABTB2 Gene

Disorders for ABTB2 Gene

Additional Disease Information for ABTB2

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

No disorders were found for ABTB2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ABTB2 Gene

Publications for ABTB2 Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 43 56
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56
  3. 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 56
  4. VIRMA mediates preferential m6A mRNA methylation in 3'UTR and near stop codon and associates with alternative polyadenylation. (PMID: 29507755) Yue Y … Liu J (Cell discovery 2018) 3 56
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 56

Products for ABTB2 Gene

Sources for ABTB2 Gene