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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 2 2 3
  • Ankyrin Repeat And BTB/POZ Domain-Containing Protein 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. Diseases associated with ABTB2 include Dravet Syndrome. GO annotations related to this gene include protein heterodimerization activity. An important paralog of this gene is BTBD11.

UniProtKB/Swiss-Prot for ABTB2 Gene

  • May be involved in the initiation of hepatocyte growth.

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ABTB2 Gene

Genomics for ABTB2 Gene

Regulatory Elements for ABTB2 Gene

Enhancers for ABTB2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11G034241 1.9 FANTOM5 Ensembl ENCODE dbSUPER 17.8 +114.5 114488 3.6 HDGF PKNOX1 SIN3A FEZF1 ZNF2 YY1 FOS DEK JUNB SMARCB1 ABTB2 PIR39921 GC11M034177
GH11G034343 1.5 Ensembl ENCODE dbSUPER 20.7 +12.7 12692 4.6 FOXA2 ATF1 ARNT MLX ZNF133 SIN3A ARID4B DMAP1 ZNF48 YY1 ABTB2 CAT LOC100216355
GH11G034213 1.8 FANTOM5 Ensembl ENCODE dbSUPER 17.2 +143.5 143469 2.3 FOXA2 MLX ARID4B FEZF1 DMAP1 TCF12 GTF3C2 ZNF121 GATA2 ELK1 ABTB2 NAT10 PIR39921 GC11M034177
GH11G034416 1.3 Ensembl dbSUPER 23 -59.0 -58984 0.5 HDGF ATF1 PKNOX1 AGO1 SIN3A DMAP1 ZNF48 YY1 TCF12 GATA2 CAT ABTB2 GC11P034408 CIR1P3
GH11G034356 1.4 ENCODE dbSUPER 20.5 -0.3 -253 3.4 HDGF PKNOX1 FOXA2 ARNT WRNIP1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B ABTB2 CAT ENSG00000220204
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ABTB2 on UCSC Golden Path with GeneCards custom track

Promoters for ABTB2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000038685 -192 2801 PKNOX1 FOXA2 ARNT WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B

Genomic Location for ABTB2 Gene

Chromosome:
11
Start:
34,150,987 bp from pter
End:
34,358,008 bp from pter
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

Suggested Antigen Peptide Sequences for ABTB2 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with ABTB2: view

No data available for 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.

Gene Ontology (GO) - Molecular Function for ABTB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0031625 ubiquitin protein ligase binding IBA --
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:

Animal Model Products

CRISPR Products

miRNA for ABTB2 Gene

miRTarBase miRNAs that target ABTB2

Inhibitory RNA Products

Clone Products

Flow Cytometry 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
mitochondrion 3
nucleus 2
cytosol 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for ABTB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005737 cytoplasm IBA --
GO:0019005 SCF ubiquitin ligase complex IBA --
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

SuperPathways for ABTB2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ABTB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030162 regulation of proteolysis IBA --
GO:0042787 protein ubiquitination involved in ubiquitin-dependent protein catabolic process IBA --
GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process IBA --
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

Transcripts for ABTB2 Gene

mRNA/cDNA for ABTB2 Gene

Unigene Clusters for ABTB2 Gene

Ankyrin repeat and BTB (POZ) domain containing 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry 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, PaxDb, 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

Primer Products

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 35 34
  • 99.25 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ABTB2 34 35
  • 92.26 (n)
dog
(Canis familiaris)
Mammalia ABTB2 34 35
  • 91.9 (n)
mouse
(Mus musculus)
Mammalia Abtb2 35 16 34
  • 90.1 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ABTB2 35
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Abtb2 34
  • 89.75 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 85 (a)
OneToMany
-- 35
  • 84 (a)
OneToMany
-- 35
  • 78 (a)
OneToMany
chicken
(Gallus gallus)
Aves ABTB2 35 34
  • 78.33 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ABTB2 35
  • 85 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii abtb2b 35
  • 69 (a)
OneToMany
LOC100007078 34
  • 68.35 (n)
BX511065.1 35
  • 64 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG43980 34 35
  • 53.83 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011728 34
  • 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)

Paralogs for ABTB2 Gene

Paralogs for ABTB2 Gene

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

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 Sequence Context AA Info Type
rs1000008634 -- 34,356,765(+) GCGTC(C/G)TTGTT reference, missense
rs1000029253 -- 34,296,936(+) CCCAA(A/C)TTCTG intron-variant
rs1000045925 -- 34,280,923(+) CTACC(C/T)GCAAT intron-variant
rs1000057520 -- 34,239,435(+) AAGCA(A/G)TCCTC intron-variant
rs1000069444 -- 34,153,914(+) GGACA(A/G)CTAGG intron-variant, upstream-variant-2KB

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)

Relevant External Links for ABTB2 Gene

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

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

Disorders for ABTB2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ABTB2 Gene - From: GeneCards

Disorder Aliases PubMed IDs
dravet syndrome
  • dravet syndrome, modifier of
- elite association - COSMIC cancer census association via MalaCards
Search ABTB2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for ABTB2

Genetic Association Database (GAD)
ABTB2
Human Genome Epidemiology (HuGE) Navigator
ABTB2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ABTB2
genes like me logo Genes that share disorders with ABTB2: view

No data available for 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 J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. A deep proteomics perspective on CRM1-mediated nuclear export and nucleocytoplasmic partitioning. (PMID: 26673895) KA+rlA+ K. … GAPrlich D. (Elife 2015) 3 64
  5. GABRA1 and STXBP1: novel genetic causes of Dravet syndrome. (PMID: 24623842) Carvill G.L. … Mefford H.C. (Neurology 2014) 3 64

Products for ABTB2 Gene

Sources for ABTB2 Gene

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