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Aliases for BTBD2 Gene

Aliases for BTBD2 Gene

  • BTB Domain Containing 2 2 3 5
  • BTB (POZ) Domain Containing 2 2 3
  • BTB/POZ Domain-Containing Protein 2 3

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 BTBD1.

Gene Wiki entry for BTBD2 Gene

Additional gene information for BTBD2 Gene

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

Genomics for BTBD2 Gene

GeneHancer (GH) Regulatory Elements for BTBD2 Gene

Promoters and enhancers for BTBD2 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
GH19J002031 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 655.7 +1.1 1130 4.6 HDGF FOXA2 PKNOX1 SMAD1 ATF1 YY1 ZNF121 GLIS2 CBX5 ZNF143 BTBD2 SF3A2 ZNF77 CIRBP DAZAP1 TCF3 ENSG00000267283 LOC100288123 LINGO3 PEAK3
GH19J002014 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE 650.4 +19.2 19226 2.1 ZNF223 ZNF266 YY1 ZNF335 GLIS2 POLR2A ZBTB48 PATZ1 VEZF1 ZNF600 GC19M002012 ENSG00000275468 BTBD2 TMEM259 SF3A2 ENSG00000267317 DAZAP1 TCF3 LOC100288123 ENSG00000267283
GH19J002079 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 22.8 -54.0 -53972 18.9 MLX DMAP1 YBX1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 MOB3A IZUMO4 ZNF77 LMNB2 ZNF555 BTBD2 SF3A2 CIRBP MKNK2 DOT1L
GH19J002038 Promoter/Enhancer 2.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12.1 -16.1 -16144 24.2 MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF213 ZNF143 ZNF263 SP3 NFYC MKNK2 SF3A2 ZNF77 TCF3 DAZAP1 LOC100288123 CIRBP LMNB2 ENSG00000267317 MUM1
GH19J001382 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 10.1 +650.9 650855 2.2 MLX FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NDUFS7 TRF-GAA1-6 TRN-GTT2-6 PIR60227 PIR43938 SF3A2 CIRBP TMEM259 DAZAP1 LOC100288123
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around BTBD2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the BTBD2 gene promoter:

Genomic Locations for BTBD2 Gene

Genomic Locations for BTBD2 Gene
chr19:1,985,438-2,034,881
(GRCh38/hg38)
Size:
49,444 bases
Orientation:
Minus strand
chr19:1,985,447-2,034,880
(GRCh37/hg19)

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:
    Q9BX70-BTBD2_HUMAN
    Recommended name:
    BTB/POZ domain-containing protein 2
    Protein Accession:
    Q9BX70
    Secondary Accessions:
    • O60418
    • O75248
    • Q4VBZ1
    • Q6IAC5
    • Q7Z5W0
    • Q96SX8
    • Q9NPS1
    • Q9NX81

    Protein attributes for BTBD2 Gene

    Size:
    525 amino acids
    Molecular mass:
    55931 Da
    Quaternary structure:
    • Interacts with topoisomerase 1 and with TRIM5 isoform Delta.
    SequenceCaution:
    • 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

    UniProtKB/Swiss-Prot:

neXtProt entry for BTBD2 Gene

Post-translational modifications for BTBD2 Gene

  • Ubiquitination at posLast=312312 and posLast=100100
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for BTBD2 Gene

Domains & Families for BTBD2 Gene

Gene Families for BTBD2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for BTBD2 Gene

Suggested Antigen Peptide Sequences for BTBD2 Gene

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for BTBD2 Gene

Function for BTBD2 Gene

Phenotypes From GWAS Catalog for BTBD2 Gene

Gene Ontology (GO) - Molecular Function for BTBD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 12878161
GO:0031625 ubiquitin protein ligase binding IBA --
genes like me logo Genes that share ontologies with BTBD2: view
genes like me logo Genes that share phenotypes with BTBD2: view

Animal Model Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , 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. Note=Localizes to punctate or elongated cytoplasmic bodies. {ECO:0000269 PubMed:12878161}.

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 BTBD2 gene
Compartment Confidence
cytosol 4
nucleus 2
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for BTBD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000932 P-body IDA 12878161
GO:0005737 cytoplasm IBA,IEA --
GO:0005829 cytosol IBA --
GO:0019005 SCF ubiquitin ligase complex IBA --
genes like me logo Genes that share ontologies with BTBD2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for BTBD2 Gene

Pathways & Interactions for BTBD2 Gene

SuperPathways for BTBD2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for BTBD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0022008 neurogenesis IBA --
GO:0030162 regulation of proteolysis IBA --
GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process IBA --
genes like me logo Genes that share ontologies with BTBD2: view

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

mRNA/cDNA for BTBD2 Gene

Unigene Clusters for BTBD2 Gene

BTB (POZ) domain containing 2:
Representative Sequences:

Clone Products

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: - -
SP4:
SP5:

Relevant External Links for BTBD2 Gene

GeneLoc Exon Structure for
BTBD2
ECgene alternative splicing isoforms for
BTBD2

Expression for BTBD2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for BTBD2 Gene



NURSA nuclear receptor signaling pathways regulating expression of BTBD2 Gene:

BTBD2

SOURCE GeneReport for Unigene cluster for BTBD2 Gene:

Hs.465543

Evidence on tissue expression from TISSUES for BTBD2 Gene

  • Nervous system(4.7)
  • Intestine(4.2)
  • Blood(4.1)
genes like me logo Genes that share expression patterns with BTBD2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia BTBD2 34 33
  • 97.78 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BTBD2 34
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia BTBD2 34
  • 95 (a)
OneToOne
cow
(Bos Taurus)
Mammalia BTBD2 34 33
  • 89.33 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Btbd2 16 34 33
  • 88.36 (n)
rat
(Rattus norvegicus)
Mammalia Btbd2 33
  • 88.13 (n)
dog
(Canis familiaris)
Mammalia BTBD2 34
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves BTBD2 34
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia btbd2 33
  • 76.1 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.2618 33
zebrafish
(Danio rerio)
Actinopterygii btbd2a 33
  • 75.76 (n)
BTBD2 34
  • 71 (a)
OneToMany
Dr.11478 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9078 33
fruit fly
(Drosophila melanogaster)
Insecta CG17068 34
  • 19 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea F38H4.7 35
  • 58 (a)
tag-30 34 33
  • 56.71 (n)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 61 (a)
OneToMany
Species where no ortholog for BTBD2 was found in the sources mined by GeneCards:
  • 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

ENSEMBL:
Gene Tree for BTBD2 (if available)
TreeFam:
Gene Tree for BTBD2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BTBD2: view image

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 Variation AA Info Type
rs1000225194 -- 2,009,316(-) A/G genic_upstream_transcript_variant, intron_variant
rs1000316997 -- 1,985,037(-) C/T downstream_transcript_variant
rs1000334046 -- 2,004,684(-) G/A genic_upstream_transcript_variant, intron_variant
rs1000495959 -- 2,009,160(-) A/G genic_upstream_transcript_variant, intron_variant
rs1000498033 -- 1,996,622(-) G/A genic_upstream_transcript_variant, intron_variant

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

Variant ID Type Subtype PubMed ID
dgv6215n54 CNV loss 21841781
dgv6216n54 CNV loss 21841781
dgv6217n54 CNV gain 21841781
esv2661496 CNV deletion 23128226
esv2717868 CNV deletion 23290073
esv2717869 CNV deletion 23290073
esv2717870 CNV deletion 23290073
esv27612 CNV gain 19812545
esv32942 CNV gain+loss 17666407
esv3555853 CNV deletion 23714750
esv3643414 CNV gain 21293372
esv3643416 CNV loss 21293372
esv3643417 CNV gain 21293372
esv3893156 CNV loss 25118596
nsv1112737 CNV deletion 24896259
nsv1113955 CNV deletion 24896259
nsv1113956 CNV deletion 24896259
nsv1154133 CNV deletion 26484159
nsv1160561 CNV deletion 26073780
nsv470107 CNV loss 18288195
nsv578367 CNV gain 21841781
nsv578369 CNV gain+loss 21841781
nsv578374 CNV gain 21841781
nsv953942 CNV deletion 24416366

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)

Additional Variant Information for BTBD2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
BTBD2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BTBD2 Gene

Disorders for BTBD2 Gene

Additional Disease Information for BTBD2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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. BTBD1 and BTBD2 colocalize to cytoplasmic bodies with the RBCC/tripartite motif protein, TRIM5delta. (PMID: 12878161) Xu L … D'Arpa P (Experimental cell research 2003) 3 4 22 58
  2. 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 22 58
  3. 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 22 58
  4. Gamma-radiation sensitivity and polymorphisms in RAD51L1 modulate glioma risk. (PMID: 20610542) Liu Y … Bondy ML (Carcinogenesis 2010) 3 44 58
  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 58

Products for BTBD2 Gene

Sources for BTBD2 Gene

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