BTBD8 Gene
protein-coding GIFtS: 44
GCID: GC01P092545
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BTB (POZ) domain containing 8
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Aliases for BTBD8 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
|
| Aliases |
|---|
| BTB (POZ) Domain Containing 81 2 | | BTB/POZ Domain-Containing Protein 82 | | Double BTB/POZ Domain Containing Protein2 |
Export aliases for BTBD8 gene to outside databasesPrevious GC identifers: GC01P092018 GC01P092257 GC01P092318 GC01P090666 |
Summaries for BTBD8 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| -- |
Genomic Views for BTBD8 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics) About This Section
| RefSeq DNA sequence:- NC_000001.10 NC_018912.1 NT_032977.9
Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the BTBD8 gene promoter: HOXA9B HOXA9 NRSF form 1 NCX/Ncx Lmo2 NRSF form 2 CBF-C Meis-1b ATF Meis-1 Other transcription factors
Search SABiosciences Chromatin IP Primers for BTBD8
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BTBD8 |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 1p22.1 Ensembl cytogenetic band: 1p22.1 HGNC cytogenetic band: 1p22.1BTBD8 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome 1 GeneLoc Exon Structure GeneLoc location for GC01P092545: view genomic region
(about GC identifiers)
Start:
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92,545,862 bp from pter |
End:
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92,613,397 bp from pter |
Size:
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67,536 bases |
Orientation:
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plus strand |
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Proteins for BTBD8 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
| UniProtKB/Swiss-Prot: BTBD8_HUMAN, Q5XKL5 (See
protein sequence)Recommended Name: BTB/POZ domain-containing protein 8 Size: 378 amino acids; 42793 Da
Subcellular location: Nucleus. Note=Localized to nucleus in fetal cells
Developmental stage: Expressed mainly in fetal tissues
Secondary accessions: Q6V9S5Alternative splicing: 2 isoforms: Q5XKL5-1 Q5XKL5-2 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for BTBD8: NX_Q5XKL5
BTBD8 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_899065.2 ENSEMBL proteins: ENSP00000359408 ENSP00000343686 ENSP00000443397 Human Recombinant Protein Products:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table
BTBD8 for ontologies About GeneDecksing
BTBD8 Antibody Products: Assay Products for BTBD8: |
Protein
Domains / Families for BTBD8 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
BTBD8 for domains About GeneDecksing
3 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q5XKL5ProtoNet protein and cluster: Q5XKL5 1 Blocks protein family: IPB000210 BTB/POZ domain
UniProtKB/Swiss-Prot: BTBD8_HUMAN, Q5XKL5Similarity: Contains 2 BTB (POZ) domains |
Function for BTBD8 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Clone Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for BTBD8 OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for BTBD8 OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: BTBD8 (NM_032505) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for BTBD8 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BTBD8  |
In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BTBD8 |
1 GenomeRNAi human phenotype for BTBD8:
|
Pathways & Interactions for BTBD8 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for BTBD8
STRING Interaction
Network Preview (showing 1 interactants - click image to see more details)
 1 Interacting protein for BTBD8 (Q5XKL53 ENSP000003436864) via UniProtKB, MINT, STRING, and/or I2DAbout this table
|
Drugs & Compounds for BTBD8 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
Browse Tocris compounds for BTBD8 Search CenterWatch for drugs/clinical trials and news about BTBD8 
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Transcripts for BTBD8 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
) About This Section
| REFSEQ mRNAs for BTBD8 gene: NM_183242.3 Unigene Cluster for BTBD8: BTB (POZ) domain containing 8 Hs.676102 [show with all ESTs]Unigene Representative Sequence: NM_1832423 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000370382 ENST00000342818(uc001doo.3 uc010otc.2) ENST00000540648
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for BTBD8 OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for BTBD8 OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: BTBD8 (NM_032505) | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for BTBD8 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BTBD8  |
Additional cDNA sequence: AY346333.1 BC013922.1 2 DOTS entries: DT.91990515 DT.75143065 7 AceView cDNA sequences: BG030576 AY346333 NM_183242 BC013922 BE349446 BX471707 BF212744 GeneLoc Exon Structure
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Expression for BTBD8 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| BTBD8 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: TAGAACTGAA
About this image See BTBD8 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for BTBD8
SOURCE GeneReport for Unigene cluster: Hs.676102 UniProtKB/Swiss-Prot: BTBD8_HUMAN, Q5XKL5Tissue specificity: Highly expressed in fetal brain. Weakly expressed in adult brain and prostate SABiosciences Custom PCR Arrays for BTBD8
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for BTBD8 Browse OriGene validated miRNA SYBR primer pairs
| |  | SABiosciences RT2 qPCR Primer Assay in human, mouse / rat BTBD8 | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat BTBD8 | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BTBD8 | In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BTBD8 |
Orthologs for BTBD8 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for BTBD8 gene from 3/12 species (see all 12) About this table
ENSEMBL Gene Tree for BTBD8 (if available) TreeFam Gene Tree for BTBD8 (if available)  |
Paralogs for BTBD8 gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
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Genomic Variants for BTBD8 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical significance | Chr 1 pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
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HapMap Linkage Disequilibrium report for BTBD8 (92545862 - 92613397 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 3 variations for BTBD8 3 CNVs: 84368 38187 8323  | SABiosciences Cancer Mutation PCR Assays |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing BTBD8 |
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Disorders
/ Diseases for BTBD8 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
BTBD8 for disorders About GeneDecksing
2 diseases for BTBD8: About MalaCardsprostatitis carcinoma Export disorders for BTBD8 gene to outside databases
|
Publications for BTBD8 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for BTBD8 gene, integrated from 9 sources (see all 11): (articles sorted by number of sources associating them with BTBD8) | |  | Utopia: connect your pdf to the dynamic world of online information |
- Molecular cloning and characterization of a novel human BTBD8 gene containing double BTB/POZ domains. (PubMed id 14654994)1, 2, 3 Xu J.... Mao Y. (2004)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Network organization of the human autophagy system. (PubMed id 20562859)1 Behrends C....Harper J.W. (2010)
- Dynamics of cullin-RING ubiquitin ligase network revea led by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (2010)
- Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)
- The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (2006)
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
- Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )2 Aoki H.... Hino O. (2000)
- Drosophila Mrityu encodes a BTB/POZ domain-containing protein and is expressed dynamically during development. (PubMed id 17486548)9 Rusconi J.C. and Challa U. (2007)
- BTB domain-containing speckle-type POZ protein (SPOP) serves as an adaptor of Daxx for ubiquitination by Cul3-based ubiquitin ligase. (PubMed id 16524876)9 Kwon J.E.... Chung C.H. (2006)
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External Searches for BTBD8 gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
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Genome Databases showing BTBD8 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing BTBD8 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing BTBD8 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| Name | Description |
| PharmGKB entry for BTBD8 | Pharmacogenomics, SNPs, Pathways |
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About This Section
| Patent Information for BTBD8 gene: Search GeneIP for patents involving BTBD8
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products for BTBD8 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
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| | | | Browse OriGene Antibodies | | OriGene shRNA RFP for BTBD8 | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for BTBD8 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for BTBD8 | | OriGene Protein Over-expression Lysate for BTBD8 | | Browse OriGene Fluorogenic Cell Assay Kits | | Browse OriGene siRNAs | | OriGene 3'-UTR Clone for BTBD8 | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for BTBD8 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for BTBD8 | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | OriGene Custom Antibody Services for BTBD8 | | OriGene Custom Protein Services for BTBD8 | | OriGene Custom Immunoassay Development | | |
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| | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat BTBD8 | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing BTBD8 | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BTBD8 | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat BTBD8 | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BTBD8 | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat BTBD8 |
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| | | Search Tocris compounds for BTBD8 |
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 | | BTBD8 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BTBD8 |
|  |  |  | | | Search ThermoFisher Antibodies for BTBD8 |
| | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BTBD8 |
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