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Aliases for BTBD8 Gene

Aliases for BTBD8 Gene

  • BTB Domain Containing 8 2 3 5
  • BTB (POZ) Domain Containing 8 2

External Ids for BTBD8 Gene

Previous GeneCards Identifiers for BTBD8 Gene

  • GC01P092018
  • GC01P092257
  • GC01P092318
  • GC01P092545
  • GC01P090666

Summaries for BTBD8 Gene

GeneCards Summary for BTBD8 Gene

BTBD8 (BTB Domain Containing 8) is a Protein Coding gene. An important paralog of this gene is ENSG00000189195.

Additional gene information for BTBD8 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BTBD8 Gene

Genomics for BTBD8 Gene

Regulatory Elements for BTBD8 Gene

Enhancers for BTBD8 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
GH01H092031 0.4 FANTOM5 5.3 -48.4 -48370 0 ZNF341 EPHX4 BTBD8 GC01P092039
GH01H092079 1 ENCODE 0.7 +0.3 300 1 ATF1 FOXA2 ARID4B DMAP1 ZNF2 GLIS2 ELK1 KLF7 ATF7 SP3 SNORA66 SNORD21 RPL5 KIAA1107 BTBD8 ENSG00000189195 GAPDHP46
GH01H092095 0.5 Ensembl 0.4 +16.1 16146 1 POLR2A CEBPG NFE2 PRDM1 KIAA1107 ENSG00000189195 GAPDHP46 BTBD8
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around BTBD8 on UCSC Golden Path with GeneCards custom track

Promoters for BTBD8 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000009812 296 1599 ATF1 FOXA2 ARID4B DMAP1 ZNF2 GLIS2 ELK1 KLF7 ATF7 SP3

Genomic Location for BTBD8 Gene

Chromosome:
1
Start:
92,080,305 bp from pter
End:
92,150,882 bp from pter
Size:
70,578 bases
Orientation:
Plus strand

Genomic View for BTBD8 Gene

Genes around BTBD8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BTBD8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BTBD8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BTBD8 Gene

Proteins for BTBD8 Gene

  • Protein details for BTBD8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5XKL5-BTBD8_HUMAN
    Recommended name:
    BTB/POZ domain-containing protein 8
    Protein Accession:
    Q5XKL5
    Secondary Accessions:
    • Q6V9S5

    Protein attributes for BTBD8 Gene

    Size:
    378 amino acids
    Molecular mass:
    42793 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for BTBD8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BTBD8 Gene

Post-translational modifications for BTBD8 Gene

No Post-translational modifications

Other Protein References for BTBD8 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for BTBD8 Gene

Domains & Families for BTBD8 Gene

Gene Families for BTBD8 Gene

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

Protein Domains for BTBD8 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for BTBD8 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with BTBD8: view

No data available for UniProtKB/Swiss-Prot for BTBD8 Gene

Function for BTBD8 Gene

Phenotypes From GWAS Catalog for BTBD8 Gene

Gene Ontology (GO) - Molecular Function for BTBD8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000976 transcription regulatory region sequence-specific DNA binding IBA --
GO:0003700 transcription factor activity, sequence-specific DNA binding IBA --
genes like me logo Genes that share ontologies with BTBD8: view

Phenotypes for BTBD8 Gene

genes like me logo Genes that share phenotypes with BTBD8: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for BTBD8
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for BTBD8 Gene

Localization for BTBD8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BTBD8 Gene

Nucleus. Note=Localized to nucleus in fetal cells.

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 BTBD8 gene
Compartment Confidence
nucleus 5
cytosol 3
extracellular 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for BTBD8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IBA --
genes like me logo Genes that share ontologies with BTBD8: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for BTBD8 Gene

Pathways & Interactions for BTBD8 Gene

SuperPathways for BTBD8 Gene

No Data Available

Interacting Proteins for BTBD8 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000343686%0d%0a9606.ENSP00000288828%0d%0a
Selected Interacting proteins: ENSP00000343686 Q5XKL5-BTBD8_HUMAN for BTBD8 Gene via STRING IID

Gene Ontology (GO) - Biological Process for BTBD8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006357 regulation of transcription from RNA polymerase II promoter IBA --
GO:0045893 positive regulation of transcription, DNA-templated IBA --
genes like me logo Genes that share ontologies with BTBD8: view

No data available for Pathways by source and SIGNOR curated interactions for BTBD8 Gene

Drugs & Compounds for BTBD8 Gene

No Compound Related Data Available

Transcripts for BTBD8 Gene

mRNA/cDNA for BTBD8 Gene

(1) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(7) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for BTBD8 Gene

BTB (POZ) domain containing 8:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for BTBD8
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for BTBD8 Gene

No ASD Table

Relevant External Links for BTBD8 Gene

GeneLoc Exon Structure for
BTBD8
ECgene alternative splicing isoforms for
BTBD8

Expression for BTBD8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for BTBD8 Gene

Protein differential expression in normal tissues from HIPED for BTBD8 Gene

This gene is overexpressed in Heart (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for BTBD8 Gene



Protein tissue co-expression partners for BTBD8 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of BTBD8 Gene:

BTBD8

SOURCE GeneReport for Unigene cluster for BTBD8 Gene:

Hs.676102

mRNA Expression by UniProt/SwissProt for BTBD8 Gene:

Q5XKL5-BTBD8_HUMAN
Tissue specificity: Highly expressed in fetal brain. Weakly expressed in adult brain and prostate.

Evidence on tissue expression from TISSUES for BTBD8 Gene

  • Bone marrow(4)
genes like me logo Genes that share expression patterns with BTBD8: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for BTBD8 Gene

Orthologs for BTBD8 Gene

This gene was present in the common ancestor of mammals.

Orthologs for BTBD8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BTBD8 33
  • 99.91 (n)
cow
(Bos Taurus)
Mammalia BTBD8 33
  • 89.74 (n)
mouse
(Mus musculus)
Mammalia Btbd8 33 16
  • 80.37 (n)
Species where no ortholog for BTBD8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • 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)
  • zebrafish (Danio rerio)

Evolution for BTBD8 Gene

ENSEMBL:
Gene Tree for BTBD8 (if available)
TreeFam:
Gene Tree for BTBD8 (if available)

Paralogs for BTBD8 Gene

Paralogs for BTBD8 Gene

genes like me logo Genes that share paralogs with BTBD8: view

Variants for BTBD8 Gene

Sequence variations from dbSNP and Humsavar for BTBD8 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000003590 -- 92,115,411(+) CATCA(C/T)GAACA intron-variant
rs1000077487 -- 92,111,286(+) CTGCA(C/T)CTGGC intron-variant
rs1000185502 -- 92,108,989(+) ATCAC(A/G/T)CTGGT intron-variant
rs1000235788 -- 92,124,876(+) TTTGA(A/G)CTAGA intron-variant
rs1000265927 -- 92,108,819(+) GTTGA(A/T)AAGAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for BTBD8 Gene

Variant ID Type Subtype PubMed ID
dgv365n54 CNV gain 21841781
esv2674499 CNV deletion 23128226
esv2714684 CNV deletion 23290073
esv2750842 CNV gain 17911159
esv2762159 CNV loss 21179565
esv3586804 CNV loss 21293372
esv3893834 CNV loss 25118596
nsv1002730 CNV gain 25217958
nsv1006318 CNV gain 25217958
nsv1009079 CNV gain 25217958
nsv1161036 CNV duplication 26073780
nsv441700 CNV loss 18776908
nsv462517 CNV gain 19166990
nsv524845 CNV gain 19592680
nsv546821 CNV gain 21841781
nsv823531 CNV gain 20364138
nsv946074 CNV duplication 23825009

Variation tolerance for BTBD8 Gene

Residual Variation Intolerance Score: 27.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.60; 45.06% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BTBD8 Gene

Human Gene Mutation Database (HGMD)
BTBD8
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BTBD8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BTBD8 Gene

Disorders for BTBD8 Gene

Relevant External Links for BTBD8

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BTBD8

No disorders were found for BTBD8 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for BTBD8 Gene

Publications for BTBD8 Gene

  1. Molecular cloning and characterization of a novel human BTBD8 gene containing double BTB/POZ domains. (PMID: 14654994) Xu J … Mao Y (International journal of molecular medicine 2004) 2 3 4 60
  2. 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 60
  3. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PMID: 23251661) Comuzzie AG … Butte NF (PloS one 2012) 3 60
  4. Network organization of the human autophagy system. (PMID: 20562859) Behrends C … Harper JW (Nature 2010) 3 60
  5. Dynamics of cullin-RING ubiquitin ligase network revealed by systematic quantitative proteomics. (PMID: 21145461) Bennett EJ … Harper JW (Cell 2010) 3 60

Products for BTBD8 Gene

Sources for BTBD8 Gene

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