BTBD2 Gene
protein-coding GIFtS: 54
GCID: GC19M001985
|
|
BTB (POZ) domain containing 2
| |
Aliases
for BTBD2 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 21 2 | | BTB/POZ Domain-Containing Protein 22 |
Export aliases for BTBD2 gene to outside databasesPrevious GC identifers: GC19M002048 GC19M001925 GC19M001936 GC19M001934 GC19M001757 |
Summaries
for BTBD2 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for BTBD2:
The C-terminus of the protein encoded by this gene binds topoisomerase I. The N-terminus contains a proline-rich regionand a BTB/POZ domain (broad-complex, Tramtrack and bric a brac/Pox virus and Zinc finger), both of which are typicallyinvolved in protein-protein interactions. Subcellularly, the protein localizes to cytoplasmic bodies. (provided byRefSeq, Jul 2008)
Gene Wiki entry for BTBD2
|
Genomic Views
for BTBD2 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_000019.9 NC_018930.1 NT_011255.14
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the BTBD2 gene promoter:
AREB6 NF-1/L NF-1 Elk-1 LCR-F1 YY1
Other transcription factors
Search SABiosciences Chromatin IP Primers for BTBD2
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BTBD2 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 19p13.3 Ensembl cytogenetic band: 19p13.3 HGNC cytogenetic band: 19p13.3-p12BTBD2 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 19 GeneLoc Exon Structure GeneLoc location for GC19M001985: view genomic region
(about GC identifiers)
Start:
|
1,985,447 bp from pter |
End:
|
2,034,880 bp from pter |
Size:
|
49,434 bases |
Orientation:
|
minus strand |
|
Proteins
for BTBD2 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: BTBD2_HUMAN, Q9BX70 (See
protein sequence)Recommended Name: BTB/POZ domain-containing protein 2 Size: 525 amino acids; 55931 Da
Subunit: Interacts with topoisomerase 1 and with TRIM5 isoform Delta
Subcellular location: Cytoplasm, P-body. Note=Cytoplasmic bodies
Sequence caution: Sequence=AAC16070.1; Type=Erroneous gene model prediction; Sequence=BAB55143.1; Type=Erroneousinitiation;
1 PDB 3D structure from  and Proteopedia  for BTBD2:3NO8 (3D)
Secondary accessions: O60418 O75248 Q4VBZ1 Q6IAC5 Q7Z5W0 Q96SX8 Q9NPS1 Q9NX81Alternative splicing: 2 isoforms: Q9BX70-1 Q9BX70-2 Explore the universe of human proteins at neXtProt for BTBD2: NX_Q9BX70
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9BX70
BTBD2 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_060267.2
ENSEMBL proteins: ENSP00000255608 ENSP00000467113 ENSP00000466686
Human Recombinant Protein Products:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0000932 | cytoplasmic mRNA processing body |
IDA | 12878161 |
BTBD2 for ontologies About GeneDecksing
BTBD2 Antibody Products:
Assay Products for BTBD2: |
Protein
Domains /
Families
for BTBD2 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
BTBD2 for domains About GeneDecksing
5 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q9BX70ProtoNet protein and cluster: Q9BX70 3 Blocks protein families: IPB000210 BTB/POZ domain IPB011705 BTB/Kelch-associated IPB012983 PHR
UniProtKB/Swiss-Prot: BTBD2_HUMAN, Q9BX70Similarity: Contains 1 BTB (POZ) domain |
Function
for BTBD2 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 BTBD2 (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for BTBD2 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BTBD2 |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table
BTBD2 for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for BTBD2:
|
Pathways & Interactions
for BTBD2 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:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for BTBD2
STRING Interaction
Network Preview (showing 5 interactants - click image to see 13)
5/40 Interacting proteins for BTBD2 (Q9BX701, 2, 3 ENSP000002556084) via UniProtKB, MINT, STRING, and/or I2D (see all 40)About this table
|
Drugs & Compounds
for BTBD2 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 BTBD2
Search CenterWatch for drugs/clinical trials and news about BTBD2
|
Transcripts
for BTBD2 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 BTBD2 gene: NM_017797.3 Unigene Cluster for BTBD2: BTB (POZ) domain containing 2 Hs.465543 [show with all ESTs]Unigene Representative Sequence: AK05681810 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000592895 ENST00000589685 ENST00000255608(uc002luo.1 uc002lup.1)
ENST00000587825 ENST00000592082 ENST00000587225 ENST00000589200 ENST00000590646
ENST00000587742 ENST00000588395
Clone
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OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for BTBD2 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
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Additional cDNA sequence: AF355797.1 AK027481.1 AK056818.1 AK225831.1 AL360275.1 AY007116.1 BC000564.2 BC008035.2 BC053986.1 BC069199.1 BC094820.1 CR457230.1 10 DOTS entries: DT.115191 DT.95360692 DT.100789822 DT.100724241 DT.95360691 DT.95360690 DT.100789823 DT.121478488 DT.91771828 DT.95360708 24/352 AceView cDNA sequences (see all 352): BQ924946 BM711980 CD251497 BQ922739 BQ949155 BG336099 BQ941981 AL360276 CA417435 BE871570 BU732212 BF795430 BC053986 BM551250 BM809544 CB155592 BM915111 BG491178 BU856965 BF527106 CB156525 BM741425 CF144459 BM742503
GeneLoc Exon Structure
5 Alternative Splicing Database (ASD) splice patterns (SP) for BTBD2 About this scheme
| ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | · | 9c | ^ | 10 | ^ | 11a | · | 11b |
|---|
|
| SP1: | | | - | | | | | | | | - | | - | | | | | | | | - | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | - | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | - | | | | | | | | - | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for BTBD2
|
Expression
for BTBD2 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
| BTBD2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CCCCCAGATG
About this image
See BTBD2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for BTBD2
SOURCE GeneReport for Unigene cluster: Hs.465543
SABiosciences Expression via Pathway-Focused PCR Array including BTBD2:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for BTBD2
Browse OriGene validated miRNA SYBR primer pairs
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Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BTBD2 |
Orthologs
for BTBD2 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 BTBD2 gene from 6/18 species (see all 18) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
mouse
(Mus musculus) |
Mammalia |
Btbd21 , 5 |
BTB (POZ) domain containing 21, 5 |
86.94(n)1
94.69(a)1 |
|
10 (39.72 cM)5
2081981 NM_145361.21 NP_663336.21
806426175 |
chicken
(Gallus gallus) |
Aves |
BTBD26 |
Uncharacterized protein |
77(a) |
1 ↔ 1 |
28(1717788-1728300) |
African clawed frog
(Xenopus laevis) |
Amphibia |
Xl.26182 |
Xenopus laevis transcribed sequence with moderate similarity more |
80.25(n) |
|
BJ072849.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
Dr.114782 |
Transcribed sequence with moderate similarity to protein more |
73.46(n) |
|
57095017 |
fruit fly
(Drosophila melanogaster) |
Insecta |
CG170686 |
-- |
16(a) |
possible ortholog |
X(20119377-20122516) |
worm
(Caenorhabditis elegans) |
Secernentea |
F38H4.73
tag-301 |
BTB (also known as BR-C/Ttk) domain.3
Protein TAG-301 |
58(a)3
56.51(n)1
60.28(a)1 |
|
IV(11851206-11855056)3
1781161 NM_069843.21 NP_502244.11 |
ENSEMBL Gene Tree for BTBD2 (if available)
TreeFam Gene Tree for BTBD2 (if available) |
Paralogs
for BTBD2 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for BTBD2 gene
- BTBD12 BTBD62 BTBD192 BTBD32 BTBD92
18/43 SIMAP similar genes for BTBD2 using alignment to 4 protein entries: BTBD2_HUMAN (see all proteins)
(see all similar genes):FKBP3 ZNF74 DCTN5 FAM3A AURA2 TCEB1
HECW1 HMGA2 LYRM4 NSRP1 ZNF212 BTBD1
C4orf22 NF2 TMEM14B UTY LOC100506792 QRICH2
BTBD2 for paralogs About GeneDecksing
|
Genomic Variants
for BTBD2 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 19 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for BTBD2 (1985447 - 2034880 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 4 variations for BTBD2
4 CNVs: 30062 7191 73279 30063 | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing BTBD2 |
|
Disorders
/ Diseases
for BTBD2 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
|
BTBD2 for disorders About GeneDecksing
OMIM gene information: 608531
OMIM disorders: --
2  diseases for BTBD2: About MalaCardslung cancer glioblastoma
Human Genome Epidemiology (HuGE) Navigator: BTBD2 (1 document)
Export disorders for BTBD2 gene to outside databases
|
Publications
for BTBD2 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 BTBD2 gene, integrated from 9 sources (see all 27):
(articles sorted by number of sources associating them with BTBD2) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Characterization of BTBD1 and BTBD2, two similar BTB-domain- containing Kelch-like proteins that interact with topoisomerase I. (PubMed id 11818025)1, 2, 9 Xu L....D'Arpa P. (2002)
- BTBD1 and BTBD2 colocalize to cytoplasmic bodies with the RBCC/tripartite motif protein, TRIM5delta. (PubMed id 12878161)1, 2, 9 Xu L.... D'Arpa P. (2003)
- Identification and characterization of BTBD1, a novel BTB domain containing gene on human chromosome 15q24. (PubMed id 11179693)1, 3, 9 Carim-Todd L.... Escarceller M. (2001)
- 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)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)1, 2 Grimwood J.... Lucas S.M. (2004)
- A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
- A directed protein interaction network for investigat ing intracellular signal transduction. (PubMed id 21900206)1 Vinayagam A....Wanker E.E. (2011)
- Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
- Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
|
External Searches for BTBD2 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing BTBD2 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing BTBD2 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing BTBD2 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 BTBD2 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for BTBD2 gene:
Search GeneIP for patents involving BTBD2
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for BTBD2 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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| |  |  |  |  | | | | |
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 |
 |
 | | | BTBD2 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BTBD2 |
|  |  |  | | | | ThermoFisher Antibody for BTBD2 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BTBD2 |
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