Aliases for BTBD8 Gene

Aliases for BTBD8 Gene

  • BTB Domain Containing 8 2 3 5
  • BTB/POZ Domain-Containing Protein 8 3 4
  • BTB (POZ) Domain Containing 8 2 3
  • AP2-Interacting Clathrin-Endocytosis Protein 3
  • Double BTB/POZ Domain Containing Protein 3
  • KIAA1107 3
  • APache 3
  • BTBD8 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. An important paralog of this gene is PRR36.

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BTBD8 Gene

Genomics for BTBD8 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for BTBD8 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J092079 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 +0.4 396 2.2 ZNF600 POLR2A ZIC2 ZBTB10 YY1 NONO SMAD5 MBD2 ZNF341 MNT BTBD8 RPAP2 SNORA66 SNORD21 RPL5 GAPDHP46 C1orf146
GH01J092168 Promoter/Enhancer 0.9 EPDnew ENCODE 250.2 +88.8 88753 0.8 ATF2 JUND RFX1 JUN HLF ATF3 ATF7 RAD21 PRDM10 CREB1 BTBD8 HSALNG0005189 RF00017-232 C1orf146
GH01J091882 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 13.2 -195.3 -195266 4.4 ZNF654 MYC IKZF1 ZNF600 ZNF580 ZMYM3 CEBPA ZNF10 ZSCAN16 NFIC TGFBR3 lnc-SETSIP-3 RPAP2 HFM1 SNORA66 SNORD21 RPL5 GLMN BTBD8 ZNF644
GH01J091403 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 13.2 -675.9 -675904 2 MYC IKZF1 ZNF600 ZNF592 POLR2A ZIC2 ZBTB10 NONO REST SMAD5 HFM1 BTBD8 RPAP2 AB372596 ZNF644
GH01J092831 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 10.1 +753.1 753124 4.2 BCLAF1 SP1 ZNF207 NCOR1 IKZF1 MYC ZNF600 SSRP1 ZNF580 ATF2 RPL5 HSALNG0005218 SNORD21 SNORA66 MTF2 CCDC18-AS1 GLMN DR1 RPAP2 BTBD8
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BTBD8 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BTBD8

Top Transcription factor binding sites by QIAGEN in the BTBD8 gene promoter:
  • ATF
  • CBF-C
  • HOXA9
  • HOXA9B
  • Lmo2
  • Meis-1
  • Meis-1b
  • NCX
  • NRSF form 1
  • NRSF form 2

Genomic Locations for BTBD8 Gene

Latest Assembly
108,205 bases
Plus strand

Previous Assembly
(GRCh37/hg19 by Entrez Gene)
104,379 bases
Plus strand

(GRCh37/hg19 by Ensembl)
67,532 bases
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:
    Recommended name:
    BTB/POZ domain-containing protein 8
    Protein Accession:
    Secondary Accessions:
    • Q6V9S5

    Protein attributes for BTBD8 Gene

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

    Alternative splice isoforms for BTBD8 Gene


neXtProt entry for BTBD8 Gene

Post-translational modifications for BTBD8 Gene

No Post-translational modifications

No data available for DME Specific Peptides for BTBD8 Gene

Domains & Families for BTBD8 Gene

Gene Families for BTBD8 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for BTBD8 Gene

  • BTB/POZ domain

Suggested Antigen Peptide Sequences for BTBD8 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ60117, highly similar to BTB/POZ domain-containing protein 8 (B4DKD6_HUMAN)
  • BTB/POZ domain-containing protein 8 (BTBD8_HUMAN)
genes like me logo Genes that share domains with BTBD8: view

No data available for Graphical View of Domain Structure and 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:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with BTBD8: view
genes like me logo Genes that share phenotypes with BTBD8: view

miRNA for BTBD8 Gene

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BTBD8

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , 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

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 4
cytosol 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
extracellular 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for BTBD8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0008021 synaptic vesicle ISS --
GO:0030054 cell junction IEA --
GO:0030122 colocalizes_with AP-2 adaptor complex IDA 29262337
genes like me logo Genes that share ontologies with BTBD8: view

Pathways & Interactions for BTBD8 Gene

PathCards logo

SuperPathways for BTBD8 Gene

No Data Available

Interacting Proteins for BTBD8 Gene

STRING Interaction Network Preview (showing top 1 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: ENSP00000359404 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:0006897 endocytosis IEA --
GO:0031175 neuron projection development ISS --
GO:0036466 synaptic vesicle recycling via endosome ISS --
GO:0150007 clathrin-dependent synaptic vesicle endocytosis IEA,ISS --
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

12 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BTBD8

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

No ASD Table

Relevant External Links for BTBD8 Gene

GeneLoc Exon Structure for

Expression for BTBD8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BTBD8

SOURCE GeneReport for Unigene cluster for BTBD8 Gene:


mRNA Expression by UniProt/SwissProt for BTBD8 Gene:

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 for research

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 animals.

Orthologs for BTBD8 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia BTBD8 29 30
  • 99.91 (n)
(Bos Taurus)
Mammalia BTBD8 29
  • 89.74 (n)
(Ornithorhynchus anatinus)
Mammalia BTBD8 30
  • 86 (a)
(Mus musculus)
Mammalia Btbd8 29 16 30
  • 80.37 (n)
(Anolis carolinensis)
Reptilia BTBD8 30
  • 51 (a)
Fruit Fly
(Drosophila melanogaster)
Insecta CG13917 30
  • 3 (a)
Species where no ortholog for BTBD8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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

Gene Tree for BTBD8 (if available)
Gene Tree for BTBD8 (if available)
Evolutionary constrained regions (ECRs) for BTBD8: view image
Alliance of Genome Resources:
Additional Orthologs for BTBD8

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BTBD8 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs145844637 Benign: not provided 92,178,321(+) G/A
NM_001376131.1(BTBD8):c.2451G>A (p.Lys817=)
rs7523552 Benign: not provided 92,180,975(+) A/T
NM_001376131.1(BTBD8):c.3292A>T (p.Asn1098Tyr)
rs17131602 -- p.Lys136Arg
rs34856868 -- p.Val60Ile

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for BTBD8 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for BTBD8 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for
Leiden Open Variation Database (LOVD)

SNP Genotyping and Copy Number Assays for research

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

Disorders for BTBD8 Gene

Additional Disease Information for 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
  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
  3. Systems analysis of RhoGEF and RhoGAP regulatory proteins reveals spatially organized RAC1 signalling from integrin adhesions. (PMID: 32203420) Müller PM … Rocks O (Nature cell biology 2020) 3
  4. VIRMA mediates preferential m6A mRNA methylation in 3'UTR and near stop codon and associates with alternative polyadenylation. (PMID: 29507755) Yue Y … Liu J (Cell discovery 2018) 3
  5. Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. (PMID: 30021884) Fasci D … Heck AJR (Molecular & cellular proteomics : MCP 2018) 3

Products for BTBD8 Gene

Sources for BTBD8 Gene