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Aliases for ABTB2 Gene

Aliases for ABTB2 Gene

  • Ankyrin Repeat And BTB Domain Containing 2 2 3
  • Ankyrin Repeat And BTB (POZ) Domain Containing 2 2 3 5
  • 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 , 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around ABTB2 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for ABTB2 Gene at MOPED

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

Q8N961

UniProtKB/Swiss-Prot:

ABTB2_HUMAN :
  • Contains 1 BTB (POZ) domain.
  • Contains 4 ANK repeats.
Domain:
  • Contains 1 BTB (POZ) domain.
Similarity:
  • Contains 4 ANK repeats.
genes like me logo Genes that share domains with ABTB2: view

Function for ABTB2 Gene

Molecular function for ABTB2 Gene

UniProtKB/Swiss-Prot Function:
May be involved in the initiation of hepatocyte growth.
genes like me logo Genes that share phenotypes with ABTB2: view

Animal Models for ABTB2 Gene

MGI Knock Outs for ABTB2:

Animal Model Products

miRNA for ABTB2 Gene

miRTarBase miRNAs that target ABTB2

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

Localization for ABTB2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ABTB2 Gene COMPARTMENTS Subcellular localization image for ABTB2 gene
Compartment Confidence
nucleus 5
mitochondrion 3
cytosol 2
peroxisome 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for ABTB2 Gene

Pathways & Interactions for ABTB2 Gene

SuperPathways for ABTB2 Gene

No Data Available

Interacting Proteins for ABTB2 Gene

Gene Ontology (GO) - Biological Process for ABTB2 Gene

None

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

Unigene Clusters for ABTB2 Gene

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

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 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



SOURCE GeneReport for Unigene cluster for ABTB2 Gene Hs.23361

genes like me logo Genes that share expression patterns with ABTB2: view

Protein tissue co-expression partners for ABTB2 Gene

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia ABTB2 35
  • 92.26 (n)
  • 96.98 (a)
ABTB2 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ABTB2 35
  • 91.9 (n)
  • 96.2 (a)
ABTB2 36
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Abtb2 35
  • 90.1 (n)
  • 97.07 (a)
Abtb2 16
Abtb2 36
  • 97 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ABTB2 35
  • 99.25 (n)
  • 99.32 (a)
ABTB2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Abtb2 35
  • 89.75 (n)
  • 97.07 (a)
oppossum
(Monodelphis domestica)
Mammalia ABTB2 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 84 (a)
OneToMany
-- 36
  • 78 (a)
OneToMany
-- 36
  • 85 (a)
OneToMany
chicken
(Gallus gallus)
Aves ABTB2 35
  • 78.33 (n)
  • 87.41 (a)
ABTB2 36
  • 87 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ABTB2 36
  • 85 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii LOC100007078 35
  • 68.35 (n)
  • 71.81 (a)
abtb2b 36
  • 69 (a)
OneToMany
BX511065.1 36
  • 64 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011728 35
  • 25.08 (n)
  • 6.49 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG43980 35
  • 53.83 (n)
  • 42.4 (a)
CG43980 36
  • 24 (a)
OneToMany
Species with no ortholog for ABTB2:
  • 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
rs1925368 - 34,356,834(+) GGGCT(C/G)TGGCT reference, missense
VAR_024171 -
rs714969 -- 34,287,227(-) tttta(A/G)gggtg intron-variant
rs734263 -- 34,199,702(+) AAGAG(A/T)AATCC intron-variant
rs742634 -- 34,354,770(-) CTGTA(A/G)ATGCA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv509400 CNV Insertion 20534489
nsv820233 CNV Loss 19587683
nsv820477 CNV Duplication 20802225
dgv206n67 CNV Loss 20364138
dgv207n67 CNV Loss 20364138
esv259699 OTHER Complex 20981092
esv26380 CNV Loss 19812545
nsv523431 CNV Loss 19592680
nsv517429 CNV Loss 19592680
nsv511473 CNV Loss 21212237
esv27543 CNV Loss 19812545
nsv442225 CNV CNV 18776908
essv24323 CNV CNV 17122850
nsv8806 CNV Loss 18304495
nsv825834 CNV Loss 20364138
esv2678419 CNV Deletion 23128226
nsv515783 CNV Loss 19592680
nsv818809 CNV Loss 17921354
nsv897204 CNV Gain 21882294
dgv1068n71 CNV Gain 21882294
esv2678936 CNV Deletion 23128226
esv24922 CNV Loss 19812545
nsv897206 CNV Gain 21882294
dgv1069n71 CNV Gain 21882294
esv2674695 CNV Deletion 23128226
nsv509401 CNV Insertion 20534489
nsv818810 CNV Loss 17921354
essv196 CNV CNV 17122850
nsv897210 CNV Gain 21882294
nsv508622 CNV Loss 20534489
esv29864 CNV Loss 19812545

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

HapMap Linkage Disequilibrium report
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 48 67
  2. A deep proteomics perspective on CRM1-mediated nuclear export and nucleocytoplasmic partitioning. (PMID: 26673895) KA+rlA+ K. … GAPrlich D. (Elife 2015) 3
  3. GABRA1 and STXBP1: novel genetic causes of Dravet syndrome. (PMID: 24623842) Carvill G.L. … Mefford H.C. (Neurology 2014) 3
  4. CBFI^ stabilizes HIV Vif to counteract APOBEC3 at the expense of RUNX1 target gene expression. (PMID: 23333304) Kim D.Y. … Gross J.D. (Mol. Cell 2013) 3
  5. Dynamics of cullin-RING ubiquitin ligase network revealed by systematic quantitative proteomics. (PMID: 21145461) Bennett E.J. … Harper J.W. (Cell 2010) 3

Products for ABTB2 Gene

Sources for ABTB2 Gene

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