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Aliases for BTBD2 Gene

Aliases for BTBD2 Gene

  • BTB Domain Containing 2 2 3
  • BTB (POZ) Domain Containing 2 2 5

External Ids for BTBD2 Gene

Previous GeneCards Identifiers for BTBD2 Gene

  • GC19M002048
  • GC19M001925
  • GC19M001936
  • GC19M001934
  • GC19M001757

Summaries for BTBD2 Gene

Entrez Gene Summary for BTBD2 Gene

  • The C-terminus of the protein encoded by this gene binds topoisomerase I. The N-terminus contains a proline-rich region and a BTB/POZ domain (broad-complex, Tramtrack and bric a brac/Pox virus and Zinc finger), both of which are typically involved in protein-protein interactions. Subcellularly, the protein localizes to cytoplasmic bodies. [provided by RefSeq, Jul 2008]

GeneCards Summary for BTBD2 Gene

BTBD2 (BTB Domain Containing 2) is a Protein Coding gene. An important paralog of this gene is BTBD9.

Gene Wiki entry for BTBD2 Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BTBD2 Gene

Genomics for BTBD2 Gene

Regulatory Elements for BTBD2 Gene

Enhancers for BTBD2 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 BTBD2 on UCSC Golden Path with GeneCards custom track

Promoters for BTBD2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around BTBD2 on UCSC Golden Path with GeneCards custom track

Genomic Location for BTBD2 Gene

1,985,438 bp from pter
2,034,881 bp from pter
49,444 bases
Minus strand

Genomic View for BTBD2 Gene

Genes around BTBD2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BTBD2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BTBD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BTBD2 Gene

Proteins for BTBD2 Gene

  • Protein details for BTBD2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    BTB/POZ domain-containing protein 2
    Protein Accession:
    Secondary Accessions:
    • O60418
    • O75248
    • Q4VBZ1
    • Q6IAC5
    • Q7Z5W0
    • Q96SX8
    • Q9NPS1
    • Q9NX81

    Protein attributes for BTBD2 Gene

    525 amino acids
    Molecular mass:
    55931 Da
    Quaternary structure:
    • Interacts with topoisomerase 1 and with TRIM5 isoform Delta.
    • Sequence=AAC16070.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=BAB55143.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for BTBD2 Gene

    Alternative splice isoforms for BTBD2 Gene


neXtProt entry for BTBD2 Gene

Proteomics data for BTBD2 Gene at MOPED

Post-translational modifications for BTBD2 Gene

  • Ubiquitination at Lys 100 and Lys 312
  • Modification sites at PhosphoSitePlus

Other Protein References for BTBD2 Gene

No data available for DME Specific Peptides for BTBD2 Gene

Domains & Families for BTBD2 Gene

Gene Families for BTBD2 Gene

Protein Domains for BTBD2 Gene

Suggested Antigen Peptide Sequences for BTBD2 Gene

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 BTB (POZ) domain.
  • Contains 1 BTB (POZ) domain.
genes like me logo Genes that share domains with BTBD2: view

Function for BTBD2 Gene

genes like me logo Genes that share phenotypes with BTBD2: view

Animal Model 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 BTBD2 Gene

Localization for BTBD2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BTBD2 Gene

Cytoplasm, P-body. Note=Cytoplasmic bodies.

Subcellular locations from

Jensen Localization Image for BTBD2 Gene COMPARTMENTS Subcellular localization image for BTBD2 gene
Compartment Confidence
cytosol 2
nucleus 2
mitochondrion 1
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for BTBD2 Gene

Pathways & Interactions for BTBD2 Gene

SuperPathways for BTBD2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for BTBD2 Gene


No data available for Pathways by source and SIGNOR curated interactions for BTBD2 Gene

Drugs & Compounds for BTBD2 Gene

No Compound Related Data Available

Transcripts for BTBD2 Gene

Unigene Clusters for BTBD2 Gene

BTB (POZ) domain containing 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for BTBD2 Gene

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

Relevant External Links for BTBD2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for BTBD2 Gene

mRNA expression in normal human tissues for BTBD2 Gene

Protein differential expression in normal tissues from HIPED for BTBD2 Gene

This gene is overexpressed in Heart (49.0) and Prostate (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for BTBD2 Gene

SOURCE GeneReport for Unigene cluster for BTBD2 Gene Hs.465543

genes like me logo Genes that share expression patterns with BTBD2: view

Primer Products

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 and Protein tissue co-expression partners for BTBD2 Gene

Orthologs for BTBD2 Gene

This gene was present in the common ancestor of animals.

Orthologs for BTBD2 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia BTBD2 35
  • 89.33 (n)
  • 96.91 (a)
BTBD2 36
  • 96 (a)
(Mus musculus)
Mammalia Btbd2 35
  • 88.36 (n)
  • 97.72 (a)
Btbd2 16
Btbd2 36
  • 92 (a)
(Pan troglodytes)
Mammalia BTBD2 35
  • 97.78 (n)
  • 98.69 (a)
BTBD2 36
  • 99 (a)
(Rattus norvegicus)
Mammalia Btbd2 35
  • 88.13 (n)
  • 97.72 (a)
(Canis familiaris)
Mammalia BTBD2 36
  • 87 (a)
(Monodelphis domestica)
Mammalia BTBD2 36
  • 95 (a)
(Ornithorhynchus anatinus)
Mammalia BTBD2 36
  • 97 (a)
(Gallus gallus)
Aves BTBD2 36
  • 93 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia btbd2 35
  • 76.1 (n)
  • 93.38 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.2618 35
(Danio rerio)
Actinopterygii btbd2a 35
  • 75.76 (n)
  • 91.74 (a)
Dr.11478 35
BTBD2 36
  • 71 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9078 35
fruit fly
(Drosophila melanogaster)
Insecta CG17068 36
  • 19 (a)
(Caenorhabditis elegans)
Secernentea F38H4.7 37
  • 58 (a)
tag-30 35
  • 56.71 (n)
  • 60.47 (a)
tag-30 36
  • 44 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 61 (a)
Species with no ortholog for BTBD2:
  • A. gosspyii yeast (Ashbya 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)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • 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 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)

Evolution for BTBD2 Gene

Gene Tree for BTBD2 (if available)
Gene Tree for BTBD2 (if available)

Paralogs for BTBD2 Gene

Paralogs for BTBD2 Gene

genes like me logo Genes that share paralogs with BTBD2: view

Variants for BTBD2 Gene

Sequence variations from dbSNP and Humsavar for BTBD2 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs7257280 -- 2,001,424(+) gaggc(A/G)gaggt intron-variant
rs7258620 -- 1,996,563(+) aaaaa(A/G)aagga intron-variant
rs7259757 -- 1,996,353(+) ctgat(A/C)ggatt intron-variant
rs7259882 -- 2,010,859(+) GTCTC(A/G)AACCC intron-variant
rs12977902 -- 1,988,588(+) GAGAC(A/G)GAGTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for BTBD2 Gene

Variant ID Type Subtype PubMed ID
esv32942 CNV Gain+Loss 17666407
nsv910499 CNV Loss 21882294
dgv3609n71 CNV Loss 21882294
dgv3612n71 CNV Loss 21882294
dgv3613n71 CNV Loss 21882294
dgv3614n71 CNV Loss 21882294
nsv470107 CNV Loss 18288195
nsv910569 CNV Loss 21882294
nsv910587 CNV Gain+Loss 21882294
nsv910588 CNV Loss 21882294
nsv910589 CNV Gain+Loss 21882294
dgv3621n71 CNV Loss 21882294
nsv910593 CNV Loss 21882294
nsv910594 CNV Loss 21882294
dgv3622n71 CNV Loss 21882294
dgv3623n71 CNV Loss 21882294
nsv910598 CNV Loss 21882294
esv2717868 CNV Deletion 23290073
esv2717869 CNV Deletion 23290073
nsv910599 CNV Loss 21882294
esv2717870 CNV Deletion 23290073
esv2661496 CNV Deletion 23128226
nsv910600 CNV Loss 21882294
dgv3624n71 CNV Loss 21882294
esv27612 CNV Gain 19812545

Variation tolerance for BTBD2 Gene

Residual Variation Intolerance Score: 4.86% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.03; 93.73% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for BTBD2 Gene

Disorders for BTBD2 Gene

Relevant External Links for BTBD2

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

No disorders were found for BTBD2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for BTBD2 Gene

Publications for BTBD2 Gene

  1. Characterization of BTBD1 and BTBD2, two similar BTB-domain- containing Kelch-like proteins that interact with topoisomerase I. (PMID: 11818025) Xu L. … D'Arpa P. (BMC Genomics 2002) 3 4 23 67
  2. Identification and characterization of BTBD1, a novel BTB domain containing gene on human chromosome 15q24. (PMID: 11179693) Carim-Todd L. … Escarceller M. (Gene 2001) 2 3 23
  3. BTBD1 and BTBD2 colocalize to cytoplasmic bodies with the RBCC/tripartite motif protein, TRIM5delta. (PMID: 12878161) Xu L. … D'Arpa P. (Exp. Cell Res. 2003) 3 23
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3

Products for BTBD2 Gene

Sources for BTBD2 Gene