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BTBD8 Gene

protein-coding   GIFtS: 40
GCID: GC01P092545

BTB (POZ) Domain Containing 8

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
BTB (POZ) Domain Containing 81 2
BTB/POZ Domain-Containing Protein 82
Double BTB/POZ Domain Containing Protein2

External Ids:    HGNC: 210191   Entrez Gene: 2846972   Ensembl: ENSG000001891957   UniProtKB: Q5XKL53   

Export aliases for BTBD8 gene to outside databases

Previous GC identifers: GC01P092018 GC01P092257 GC01P092318 GC01P090666


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for BTBD8 Gene:
BTBD8 (BTB (POZ) domain containing 8) is a protein-coding gene. Diseases associated with BTBD8 include obesity, and prostatitis.


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   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

SwitchGear Promoter luciferase reporter plasmidBTBD8 promoter sequence
   Search Chromatin IP Primers for BTBD8

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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: 1p22.1

BTBD8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BTBD8 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P092545:  view genomic region     (about GC identifiers)

Start:
92,545,862 bp from pter      End:
92,613,397 bp from pter
Size:
67,536 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: BTBD8_HUMAN, Q5XKL5 (See protein sequence)
Recommended Name: BTB/POZ domain-containing protein 8  
Size: 378 amino acids; 42793 Da
Developmental stage: Expressed mainly in fetal tissues
Secondary accessions: Q6V9S5
Alternative splicing: 2 isoforms:  Q5XKL5-1   Q5XKL5-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for BTBD8: NX_Q5XKL5

Explore proteomics data for BTBD8 at MOPED


See BTBD8 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_899065.2  
ENSEMBL proteins: 
 ENSP00000359408   ENSP00000343686   ENSP00000443397  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:
BTBD: BTB/POZ domain containing

3 InterPro protein domains:
 IPR000210 BTB/POZ-like
 IPR011333 BTB/POZ_fold
 IPR013069 BTB_POZ

Graphical View of Domain Structure for InterPro Entry Q5XKL5

ProtoNet protein and cluster: Q5XKL5

1 Blocks protein domain: IPB000210 BTB/POZ domain

UniProtKB/Swiss-Prot: BTBD8_HUMAN, Q5XKL5
Similarity: Contains 2 BTB (POZ) domains


BTBD8 for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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     Gene Ontology (GO): 1 molecular function term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005515protein binding ----
     
BTBD8 for ontologies           About GeneDecksing


Phenotypes:
     1 GenomeRNAi human phenotype for BTBD8:
 Increased G1 DNA content 

Animal Models:
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
BTBD8_HUMAN, Q5XKL5: Nucleus. Note=Localized to nucleus in fetal cells
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
nucleus5
cytosol3
endoplasmic reticulum1
extracellular1
mitochondrion1
peroxisome1

Gene Ontology (GO): 1 cellular component term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005634nucleus IEA--

BTBD8 for ontologies           About GeneDecksing


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for BTBD8
Interactions:

    Search GeneGlobe Interaction Network 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 I2D
InteractantInteraction Details
GeneCardExternal ID(s)
WIPI2Q9Y4P83, ENSP000002888284I2D: score=3 STRING: ENSP00000288828
About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for BTBD8



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for BTBD8 gene: 
NM_183242.3  

3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000370382 ENST00000342818(uc001doo.3 uc010otc.2) ENST00000540648

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7 AceView cDNA sequences:

BE349446 BG030576 BC013922 BX471707 NM_183242 AY346333 BF212744 

GeneLoc Exon Structure


(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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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BTBD8 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: TAGAACTGAA
BTBD8 Expression
About this image

BTBD8 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

BTBD8 Protein Expression

UniProtKB/Swiss-Prot: BTBD8_HUMAN, Q5XKL5
Tissue specificity: Highly expressed in fetal brain. Weakly expressed in adult brain and prostate

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In Situ
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BTBD8

(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)
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This gene was present in the common ancestor of animals.

Orthologs for BTBD8 gene from Selected species (see all 6)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Btbd81 , 5 BTB (POZ) domain containing 81, 5 80.37(n)1
72.68(a)1
  5 (52.23 cM)5
1005031851  NM_001255991.11  NP_001242920.11 
 1074379975 
lizard
(Anolis carolinensis)
Reptilia BTBD86
BTB (POZ) domain containing 8
51(a)
1 ↔ 1
4(93958634-93973432)
fruit fly
(Drosophila melanogaster)
Insecta CG139176
--
3(a)
1 ↔ 1
3L(1576699-1600846)


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

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for BTBD8 (see all 1430)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 1 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1128995621,2
C,F--92543957(+) TGATCC/TGCCCA 1 -- us2k12Minor allele frequency- T:0.50NA 4
rs1465483031,2
C--92543967(+) ACCTCA/GGCCTC 1 -- us2k10--------
rs1396712621,2
--92544096(+) GAATGA/GATAAT 1 -- us2k10--------
rs1498026331,2
--92544189(+) AATGGG/TGCAAC 1 -- us2k10--------
rs1457484061,2
--92544257(+) ACCTGA/GAGAGG 1 -- us2k10--------
rs1489499741,2
--92544300(+) ATTTTC/TTGAGG 1 -- us2k10--------
rs1912093271,2
--92544479(+) GACCTC/TGGCCA 1 -- us2k10--------
rs171315981,2
C,F,H--92544692(+) GAATCA/GATTAT 1 -- us2k1 tfbs328Minor allele frequency- G:0.25NA EA NS WA 2978
rs1824807931,2
C--92544724(+) AATTTG/TAAAAA 1 -- us2k10--------
rs778510351,2
--92544880(+) TTTTTG/TTTTGG 1 -- us2k11Minor allele frequency- T:0.50NA 2

HapMap Linkage Disequilibrium report for BTBD8 (92545862 - 92613397 bp)

Structural Variations
     Database of Genomic Variants (DGV) 10 variations for BTBD8:    About this table    
Variant IDTypeSubtypePubMed ID
esv2714684CNV Deletion23290073
esv2674499CNV Deletion23128226
dgv265n71CNV Loss21882294
nsv871508CNV Gain21882294
esv2750842CNV Gain17911159
nsv524845CNV Gain19592680
nsv462517CNV Gain19166990
nsv823531CNV Gain20364138
dgv264n71CNV Gain21882294
nsv441700CNV CNV18776908

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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2 diseases for BTBD8:    
About MalaCards
obesity    prostatitis


BTBD8 for disorders           About GeneDecksing


Export disorders for BTBD8 gene to outside databases

(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)
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PubMed articles for BTBD8 gene, integrated from 10 sources (see all 12):
(articles sorted by number of sources associating them with BTBD8)
    Utopia: connect your pdf to the dynamic
world of online information

  1. 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. (Int. J. Mol. Med. 2004)
  2. 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. (Genome Res. 2004)
  3. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PubMed id 23251661)1 Comuzzie A.G....Butte N.F. (PLoS ONE 2012)
  4. Network organization of the human autophagy system. (PubMed id 20562859)1 Behrends C....Harper J.W. (Nature 2010)
  5. Dynamics of cullin-RING ubiquitin ligase network revealed by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (Cell 2010)
  6. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (amp 2008)
  7. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (Nature 2006)
  8. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)
  9. (PubMed id )2 
  10. 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. (Int. J. Dev. Biol. 2007)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 284697 HGNC: 21019 AceView: BTBD8 Ensembl:ENSG00000189195 euGenes: HUgn284697
ECgene: BTBD8 H-InvDB: BTBD8

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for BTBD8 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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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



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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 Browse SwitchGear 3'UTR luciferase reporter plasmids for BTBD8
 SwitchGear Promoter luciferase reporter plasmids for BTBD8
 Search ThermoFisher Antibodies for BTBD8
 Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BTBD8
 inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for BTBD8
 inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for BTBD8
 Search LSBio for Antibodies for BTBD8
Customized transgenic rodents for:
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 Biomarker expression
 Off-target effect monitoring
 Translational medicine
 Tissue-specific gene expresssion
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 Browse compounds at ApexBio
       
GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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