Free for academic non-profit institutions. Other users need a Commercial license

Aliases for BTBD8 Gene

Aliases for BTBD8 Gene

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

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.

No data available for Entrez Gene 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 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 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

ENSRs around BTBD8 on UCSC Golden Path with GeneCards custom track

Genomic Location for BTBD8 Gene

Chromosome:
1
Start:
92,080,305 bp from pter
End:
92,147,840 bp from pter
Size:
67,536 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

Proteomics data for BTBD8 Gene at MOPED

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

Protein Domains for BTBD8 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for BTBD8 Gene

Graphical View of Domain Structure for InterPro Entry

Q5XKL5

UniProtKB/Swiss-Prot:

BTBD8_HUMAN :
  • Contains 2 BTB (POZ) domains.
Domain:
  • Contains 2 BTB (POZ) domains.
genes like me logo Genes that share domains with BTBD8: view

Function for BTBD8 Gene

Gene Ontology (GO) - Molecular Function for BTBD8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003700 transcription factor activity, sequence-specific DNA binding IBA --
GO:0005515 protein binding IEA --
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

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
Jensen Localization Image for BTBD8 Gene COMPARTMENTS Subcellular localization image for BTBD8 gene
Compartment Confidence
nucleus 5
cytosol 3
endoplasmic reticulum 1
extracellular 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for BTBD8 Gene

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

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://string-db.org/version_10/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 I2D

Gene Ontology (GO) - Biological Process for BTBD8 Gene

None

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:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for BTBD8 Gene

BTB (POZ) domain containing 8:
Representative Sequences:

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 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



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.
genes like me logo Genes that share expression patterns with BTBD8: view

Protein tissue co-expression partners for BTBD8 Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for BTBD8 Gene

Orthologs for BTBD8 Gene

This gene was present in the common ancestor of animals.

Orthologs for BTBD8 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia BTBD8 35
  • 89.74 (n)
  • 84.35 (a)
mouse
(Mus musculus)
Mammalia Btbd8 35
  • 80.37 (n)
  • 72.68 (a)
Btbd8 16
Btbd8 36
  • 73 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia BTBD8 35
  • 99.91 (n)
  • 99.74 (a)
BTBD8 36
  • 100 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BTBD8 36
  • 86 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BTBD8 36
  • 51 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG13917 36
  • 3 (a)
OneToOne
Species with no ortholog for BTBD8:
  • 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)
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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

No data available for Paralogs for BTBD8 Gene

Variants for BTBD8 Gene

Sequence variations from dbSNP and Humsavar for BTBD8 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs17131602 - 92,102,532(+) GAAAA(A/G)GATAA reference, missense
rs34856868 - 92,088,726(-) GGTAA(C/T)ATCTG reference, missense
rs481677 -- 92,109,900(-) aatat(A/G)taagt intron-variant
rs530815 -- 92,111,976(-) GCATA(C/T)GCAGG intron-variant
rs488288 -- 92,109,174(-) TAATG(A/T)TCAAT intron-variant

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

Variant ID Type Subtype PubMed ID
esv2714684 CNV Deletion 23290073
nsv462517 CNV Gain 19166990
nsv524845 CNV Gain 19592680
dgv264n71 CNV Gain 21882294
esv2750842 CNV Gain 17911159
nsv871508 CNV Gain 21882294
dgv265n71 CNV Loss 21882294
esv2674499 CNV Deletion 23128226
nsv441700 CNV CNV 18776908
nsv823531 CNV Gain 20364138

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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links 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. (Int. J. Mol. Med. 2004) 2 3 4 67
  2. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PMID: 23251661) Comuzzie A.G. … Butte N.F. (PLoS ONE 2012) 3
  3. Network organization of the human autophagy system. (PMID: 20562859) Behrends C. … Harper J.W. (Nature 2010) 3
  4. Dynamics of cullin-RING ubiquitin ligase network revealed by systematic quantitative proteomics. (PMID: 21145461) Bennett E.J. … Harper J.W. (Cell 2010) 3
  5. Expression of Fatty Acid Synthase Depends on NAC1 and Is Associated with Recurrent Ovarian Serous Carcinomas. (PMID: 20508725) Ueda S.M. … Shih I.e.M. (J Oncol 2010) 23

Products for BTBD8 Gene

Sources for BTBD8 Gene

Content