Home
GeneCards Guide
Suite
- MalaCards
- GeneALaCart
- GeneDecks
- GeneIP
- GeneLoc
Terms of Use
- Terms of Use
- 3rd Party Notice
About Us
- GeneCards Team
- Our Publications
- Citing GeneCards
- Licensing Agreement
- Weizmann Institute
- LifeMap Sciences Inc
User Feedback
GeneCards Plus
- Premium Tools
  
  Learn more

Set Analyses:

VarElect

Advanced Search

BTBD3 Gene

protein-coding GIFtS: 50
GCID: GC20P011866

BTB (POZ) Domain Containing 3

See related diseases
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

TryGeneCards Plus

Aliases
BTB (POZ) Domain Containing 3¹ ²
KIAA0952³ ⁵
BTB/POZ Domain-Containing Protein 3²
dJ742J24.1²

External Ids:	HGNC: 15854¹	Entrez Gene: 22903²	Ensembl: ENSG00000132640⁷	OMIM: 615566⁵	UniProtKB: Q9Y2F9³

Export aliases for BTBD3 gene to outside databases

Previous GC identifers: GC20P011886 GC20P011819

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

TryGeneCards Plus

GeneCards Summary for BTBD3 Gene:

BTBD3 (BTB (POZ) domain containing 3) is a protein-coding gene. Diseases associated with BTBD3 include lung cancer, and obesity. An important paralog of this gene is BTBD2.

UniProtKB/Swiss-Prot: BTBD3_HUMAN, Q9Y2F9

Function: Acts as a key regulator of dendritic field orientation during development of sensory cortex. Also

directs dendrites toward active axon terminals when ectopically expressed (By similarity)

(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)
About This Section

TryGeneCards Plus

Regulatory elements:

Regulatory transcription factor binding sites in the BTBD3 gene promoter:
E2F-4 E2F-3a E2F-5 FOXD3 E2F-2 E2F E2F-1 POU2F1 POU2F1a GR-alpha
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: BTBD3 promoter sequence

Search Chromatin IP Primers for BTBD3

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BTBD3

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 20p12.2 Ensembl cytogenetic band: 20p12.2 HGNC cytogenetic band: 20p12.2

BTBD3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BTBD3 gene location

GeneLoc information about chromosome 20 GeneLoc Exon Structure

GeneLoc location for GC20P011866: view genomic region (about GC identifiers)

Start:	11,871,371 bp from pter	End:	11,907,257 bp from pter
Size:	35,887 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.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: BTBD3_HUMAN, Q9Y2F9 (See protein sequence)

Recommended Name: BTB/POZ domain-containing protein 3

Size: 522 amino acids; 58420 Da

Sequence caution: Sequence=BAA76796.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;

Secondary accessions: D3DW19 Q5JY73

Alternative splicing: 2 isoforms: Q9Y2F9-1 Q9Y2F9-2

Explore the universe of human proteins at neXtProt for BTBD3: NX_Q9Y2F9

Explore proteomics data for BTBD3 at MOPED

Post-translational modifications:

Ubiquitination² at Lys315

Modification sites at PhosphoSitePlus

See BTBD3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (6 alternative transcripts):

NP_001269479.1 NP_001269480.1 NP_001269481.1 NP_001269483.1 NP_055777.1 NP_852108.2

ENSEMBL proteins:

ENSP00000254977 ENSP00000381971 ENSP00000384545 ENSP00000410502 ENSP00000404268

ENSP00000397809 ENSP00000408817 ENSP00000404582 ENSP00000367471

BTBD3 Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	OriGene Purified Protein for BTBD3 OriGene Protein Over-expression Lysate for BTBD3 OriGene Custom MassSpec OriGene Custom Protein Services for BTBD3
	GenScript Custom Purified and Recombinant Proteins Services for BTBD3
	Novus Biologicals BTBD3 Protein Novus Biologicals BTBD3 Lysates
	Browse Sino Biological Recombinant Proteins Browse Sino Biological Cell Lysates
	Browse ProSpec Recombinant Proteins
	Cloud-Clone Corp. Proteins for BTBD3

BTBD3 Antibody Products:

	Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Browse R&D Systems for Antibodies
	Browse OriGene Antibodies OriGene Custom Antibody Services for BTBD3
	Novus Biologicals BTBD3 Antibodies
	Abcam antibodies for BTBD3
	Cloud-Clone Corp. Antibodies for BTBD3
	Search ThermoFisher Antibodies for BTBD3
	LSBio Antibodies in human, mouse, rat for BTBD3

BTBD3 Assay Products:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Assay Services for BTBD3
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for BTBD3
	Browse Enzo Life Sciences for kits & assays
	Cloud-Clone Corp. ELISAs for BTBD3 Cloud-Clone Corp. CLIAs for BTBD3

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

TryGeneCards Plus

HGNC Gene Families:

BTBD: BTB/POZ domain containing

5 InterPro protein domains:

IPR012983 PHR

IPR000210 BTB/POZ-like

IPR011333 BTB/POZ_fold

IPR013069 BTB_POZ

IPR011705 BACK

Graphical View of Domain Structure for InterPro Entry Q9Y2F9

ProtoNet protein and cluster: Q9Y2F9

2 Blocks protein domains:

IPB000210 BTB/POZ domain

IPB012983 PHR

UniProtKB/Swiss-Prot: BTBD3_HUMAN, Q9Y2F9

Similarity: Contains 1 BACK (BTB/Kelch associated) domain

Similarity: Contains 1 BTB (POZ) domain

BTBD3 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.)
About This Section

TryGeneCards Plus

Molecular Function:

UniProtKB/Swiss-Prot Summary: BTBD3_HUMAN, Q9Y2F9

Function: Acts as a key regulator of dendritic field orientation during development of sensory cortex. Also

directs dendrites toward active axon terminals when ectopically expressed (By similarity)

Gene Ontology (GO): 1 molecular function term: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	--	--

BTBD3 for ontologies About GeneDecksing

Animal Models:

inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for BTBD3

inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for BTBD3

genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for BTBD3

genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for BTBD3

miRNA Products:		miRTarBase miRNAs that target BTBD3: hsa-mir-148b-3p (MIRT019498), hsa-mir-181c-5p (MIRT006896), hsa-mir-148a-3p (MIRT026014), hsa-mir-130b-3p (MIRT020331), hsa-mir-125b-5p (MIRT046061), hsa-mir-19b-3p (MIRT031218), hsa-mir-26a-5p (MIRT050122), hsa-mir-181a-5p (MIRT025154), hsa-mir-21-5p (MIRT030995), hsa-mir-1227-3p (MIRT036405), hsa-mir-98-5p (MIRT027774), hsa-mir-24-3p (MIRT030584)

		Block miRNA regulation of human, mouse, rat BTBD3 using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate BTBD3 (see all 85):
		hsa-miR-323-3p hsa-miR-4272 hsa-miR-877* hsa-miR-4274 hsa-miR-3909 hsa-miR-130b hsa-miR-490-5p hsa-miR-4324

		SwitchGear 3'UTR luciferase reporter plasmid: BTBD3 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for BTBD3
		Predesigned siRNA for gene silencing in human, mouse, rat BTBD3

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for BTBD3

Clone Products:		OriGene clones in human, mouse for BTBD3 (see all 11) OriGene ORF clones in mouse, rat for BTBD3 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): BTBD3 (NM_181443)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for BTBD3
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BTBD3

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for BTBD3
		Browse ESI BIO Cell Lines and PureStem Progenitors for BTBD3

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BTBD3

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
About This Section

TryGeneCards Plus

Subcellular locations from UniProtKB/Swiss-Prot

BTBD3_HUMAN, Q9Y2F9: Cytoplasm, cytosol (By similarity). Nucleus (By similarity). Note=Translocates from the

cytosol to the nucleus in response to neuronal activity (By similarity)

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
cytosol	3
nucleus	2
extracellular	1
peroxisome	1

About this image

Gene Ontology (GO): 2 cellular component terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	ISS	--
GO:0005829	cytosol	ISS	--

BTBD3 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).
About This Section

TryGeneCards Plus

Custom Pathway & Disease-focused RT² Profiler PCR Arrays for BTBD3
Interactions:

Search GeneGlobe Interaction Network for BTBD3

STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

4 Interacting proteins for BTBD3 (Q9Y2F9³ ENSP00000367471⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PLXNB3	Q9ULL4³, ENSP00000355378⁴	I2D: score=2 STRING: ENSP00000355378
UBC	ENSP00000344818⁴	STRING: ENSP00000344818
ZBTB16	ENSP00000338157⁴	STRING: ENSP00000338157
ELAVL1	ENSP00000385269⁴	STRING: ENSP00000385269

About this table

Gene Ontology (GO): 2 biological process terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0021987	cerebral cortex development	ISS	--
GO:0048813	dendrite morphogenesis	ISS	--

BTBD3 for ontologies About GeneDecksing

(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)
About This Section

TryGeneCards Plus

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for BTBD3

(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 )
About This Section

TryGeneCards Plus

REFSEQ mRNAs for BTBD3 gene (6 alternative transcripts):

NM_001282550.1 NM_001282551.1 NM_001282552.2 NM_001282554.1 NM_014962.3 NM_181443.3

13 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000254977(uc002wny.3 uc010zrg.2 uc010zrh.2) ENST00000399006(uc002woa.3 uc010zrf.2)

ENST00000405977 ENST00000449299 ENST00000450368 ENST00000422390 ENST00000455911

ENST00000430557 ENST00000488503 ENST00000471120 ENST00000473416 ENST00000473180

ENST00000378226(uc002wnz.3)

miRNA Products:		Block miRNA regulation of human, mouse, rat BTBD3 using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate BTBD3 (see all 85):
		hsa-miR-323-3p hsa-miR-4272 hsa-miR-877* hsa-miR-4274 hsa-miR-3909 hsa-miR-130b hsa-miR-490-5p hsa-miR-4324

		SwitchGear 3'UTR luciferase reporter plasmid: BTBD3 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for BTBD3
		Predesigned siRNA for gene silencing in human, mouse, rat BTBD3

Clone Products:		OriGene clones in human, mouse for BTBD3 (see all 11) OriGene ORF clones in mouse, rat for BTBD3 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): BTBD3 (NM_181443)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for BTBD3
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BTBD3

Primer Products:		OriGene qSTAR qPCR primer pairs in human, mouse for BTBD3
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat BTBD3
		QuantiTect SYBR Green Assays in human, mouse, rat BTBD3
		QuantiFast Probe-based Assays in human, mouse, rat BTBD3

Selected AceView cDNA sequences (see all 226):

BM785237 AW190294 AI082210 BP351808 AU132761 CK903919 NM_014962 BQ953571

BQ439776 AI032765 CR614620 AU137245 AA322020 BX472195 CF993989 CB961606

AA234077 BX645338 CB960524 AU137316 AA969489 AI834229 AA349342 BI759690

GeneLoc Exon Structure

Selected Alternative Splicing Database (ASD) splice patterns (SP) for BTBD3 (see all 9) About this scheme

ExUns:	1a	·	1b	·	1c	^	2	^	3a	·	3b	·	3c	^	4	^	5	^	6a	·	6b	^	7a	·	7b	^	8	^	9a	·	9b	·	9c	·	9d	·	9e
SP1:							-		-		-		-		-												-
SP2:															-												-
SP3:																											-
SP4:							-		-		-		-		-				-		-						-
SP5:							-								-

ECgene alternative splicing isoforms for BTBD3

(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)
About This Section

TryGeneCards Plus

BTBD3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: TTAAATGCAA

About this image

BTBD3 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 8) fully expand


Limb (Muscoskeletal System) fully expand to see all 5 entries
Interzone Cells Stylopod Synovial Joint
Zeugopod

Neural Tube (Nervous System) fully expand to see all 3 entries
Metencephalon

Lung (Respiratory System) fully expand to see all 2 entries
Chondrocytes Tracheal Cartilage
Tracheal Cartilage

Cartilage (Muscoskeletal System) fully expand to see all 2 entries
Interzone Cells Stylopod Synovial Joint
Tracheal Cartilage

Brain (Nervous System) fully expand to see all 2 entries
Medulla Oblongata

BTBD3 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

BTBD3 Protein Expression

Custom PCR Arrays for BTBD3

Primer Products:		OriGene qSTAR qPCR primer pairs in human, mouse for BTBD3
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat BTBD3
		QuantiTect SYBR Green Assays in human, mouse, rat BTBD3
		QuantiFast Probe-based Assays in human, mouse, rat BTBD3

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BTBD3

(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

TryGeneCards Plus

This gene was present in the common ancestor of animals.

Orthologs for BTBD3 gene from Selected species (see all 17) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Btbd3^{1 , 5}	BTB (POZ) domain containing 3^{1, 5}	90.68(n)¹ 97.7(a)¹		2 (68.28 cM)⁵ 228662¹ NM_145534.2¹ NP_663509.2¹ 138256565⁵
chicken (Gallus gallus)	Aves	BTBD3¹	BTB (POZ) domain containing 3	84.91(n) 96.15(a)		427688 XM_004935234.1 XP_004935291.1
lizard (Anolis carolinensis)	Reptilia	BTBD3⁶	BTB (POZ) domain containing 3	96(a)	1 ↔ 1	1(133379751-133421120)
African clawed frog (Xenopus laevis)	Amphibia	48056023²	--	82.65(n)		48056023
zebrafish (Danio rerio)	Actinopterygii	sbcb776²	sbcb776	75.89(n)		373155 CK353599.1
fruit fly (Drosophila melanogaster)	Insecta	CG5319³ lute¹	lute¹	68(a) (best of 2)³ 64.24(n)¹ 69.25(a)¹		90A4³ 42089¹ NM_001260220.1¹ NP_001247149.1¹

ENSEMBL Gene Tree for BTBD3 (if available)
TreeFam Gene Tree for BTBD3 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

TryGeneCards Plus

Paralogs for BTBD3 gene

BTBD2² BTBD1² BTBD6² BTBD19² BTBD9²

Selected SIMAP similar genes for BTBD3 using alignment to 6 protein entries: BTBD3_HUMAN (see all proteins) (see all similar genes):

DKFZp434B055 BTBD6 BTBD2 BTBD1 SPOP KLHL7

KLHL3 KLHL2 KLHL28 KLHL38 KLHL22 LZTR1

KLHL15 KLHL20 KLHL30 KLHL17 SPOPL KLHL1

BTBD3 for paralogs About GeneDecksing

(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)
About This Section

TryGeneCards Plus

SNP ID	Valid	Clinical significance	Chr 20 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs1625^1,2	C,F,A	--	11821099(+)	`aaggtT/Aacttt`	1	--	us2k¹ tfbs³		10		NA CSA WA EA	371
rs146321616^1,2		--	11821110(+)	`TCTTCC/TACAGA`	1	--	us2k¹		0	--	--	--	--
rs188153567^1,2		--	11821202(+)	`AATAAC/TGCAAG`	1	--	us2k¹		0	--	--	--	--
rs147457647^1,2	C	--	11821258(+)	`ACCTG-/CTGT CTGTT`	1	--	us2k¹		0	--	--	--	--
rs200797332^1,2		--	11821263(+)	`CTGTC-/TGTT TGTTT`	1	--	us2k¹		0	--	--	--	--
rs180948898^1,2		--	11821266(+)	`TCTGTC/TTGTTT`	1	--	us2k¹		0	--	--	--	--
rs139628830^1,2		--	11821278(+)	`TTTGTC/TTGTTT`	1	--	us2k¹		0	--	--	--	--
rs6033255^1,2	C,F	--	11821281(+)	`gtttgT/Cttgct`	1	--	us2k¹ tfbs³		10		NA CSA WA EA	371
rs186089815^1,2		--	11821332(+)	`AAGGTA/GTTGGC`	1	--	us2k¹		0	--	--	--	--
rs144071239^1,2		--	11821350(+)	`GTTGTA/GGAGGC`	1	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for BTBD3 (11871371 - 11907257 bp)

Structural Variations
Database of Genomic Variants (DGV) 6 variations for BTBD3: About this table

Variant ID	Type	Subtype	PubMed ID
esv271822	CNV	Insertion	20981092
dgv168e55	CNV	Gain	17911159
nsv833921	CNV	Gain	17160897
dgv1307e1	CNV	Complex	17122850
dgv1308e1	CNV	Complex	17122850
nsv7339	OTHER	Inversion	18451855

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing BTBD3

DNA2.0 Custom Variant and Variant Library Synthesis for BTBD3

(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.)
About This Section

TryGeneCards Plus

OMIM gene information: 615566 OMIM disorders: --

3 diseases for BTBD3:
About MalaCards

lung cancer obesity malaria

BTBD3 for disorders About GeneDecksing

Genetic Association Database (GAD): BTBD3
Human Genome Epidemiology (HuGE) Navigator: BTBD3 (2 documents)

Export disorders for BTBD3 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)
About This Section

TryGeneCards Plus

PubMed articles for BTBD3 gene, integrated from 10 sources (see all 20):
(articles sorted by number of sources associating them with BTBD3)

Utopia: connect your pdf to the dynamic
world of online information

Genome-wide examination of genetic variants associated with response to platinum-based chemotherapy in patients with small-cell lung cancer. (PubMed id 20463552)^{1, 4} Wu C....Lin D. (Pharmacogenet. Genomics 2010)
The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)^{1, 2} Deloukas P....Rogers J. (Nature 2001)
Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10231032)^{1, 2} Nagase T.... Ohara O. (DNA Res. 1999)
Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)¹ Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)¹ Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)
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)
Target gene repression mediated by miRNAs miR-181c and miR-9 both of which are down-regulated by amyloid-I^. (PubMed id 21720722)¹ Schonrock N....GAPtz J. (J. Mol. Neurosci. 2012)
Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality. (PubMed id 21348951)¹ Parsa A....Liggett S.B. (Clin Transl Sci 2011)
A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)¹ Wagner S.A....Choudhary C. (amp 2011)
Ubiquitin ligase substrate identification through quantitative proteomics at both the protein and peptide levels. (PubMed id 21987572)¹ Lee K.A....Doedens J.R. (J. Biol. Chem. 2011)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

TryGeneCards Plus

		AND	OR
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)
About This Section

TryGeneCards Plus

Entrez Gene: 22903	HGNC: 15854	AceView: BTBD3	Ensembl:ENSG00000132640	euGenes: HUgn22903
ECgene: BTBD3	H-InvDB: BTBD3

(According to HUGE)
About This Section

TryGeneCards Plus

HUGE: KIAA0952

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
About This Section

TryGeneCards Plus

Name	Description
PharmGKB entry for BTBD3	Pharmacogenomics, SNPs, Pathways

Intellectual Property for BTBD3 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

TryGeneCards Plus

Patent Information for BTBD3 gene:
Search GeneIP for patents involving BTBD3

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)
About This Section

TryGeneCards Plus


	EMD Millipore genomic analysis products

	Browse Antibodies		Browse Cell Culture Products
	Browse ELISAs		Browse Flow Cytometry Kits
	Browse Primer Pairs		Browse Enzyme Activity Assays/Reagents
	Browse ELISpot/FluoroSpot Kits/Development Modules		Browse TFB/Immunoprecipitation Assays
	Browse Apoptosis Detection Kits/Reagents		Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents
	Browse DNA Damage/Repair Kits/Reagents		Browse Luminex Assays
	Browse Cell Selection/Detection Kits/Reagents		Browse Secondary Antibodies/Controls/Staining Reagents
	Browse Recombinant/Natural Proteins		Browse Stem Cell Products
	Browse cDNA Clones		Browse Proteome Profiler Antibody Arrays

	Browse OriGene Antibodies		OriGene RNAi products in human, mouse, rat for BTBD3
	Browse OriGene qPCR primer pairs and template standards		OriGene Protein Over-expression Lysate for BTBD3
	OriGene Custom Mass Spec		OriGene clones in human, mouse for BTBD3
	OriGene qSTAR qPCR primer pairs in human, mouse for BTBD3		OriGene Purified Protein for BTBD3
	OriGene ORF clones in mouse, rat for BTBD3		OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
	OriGene Custom Antibody Services for BTBD3		OriGene Custom Protein Services for BTBD3

	Block miRNA regulation of human, mouse, rat BTBD3 using miScript Target Protectors		SeqTarget long-range PCR primers for resequencing BTBD3
	DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BTBD3		Predesigned siRNA for gene silencing in human, mouse, rat BTBD3
	QuantiFast Probe-based Assays in human, mouse, rat BTBD3		QuantiTect SYBR Green Assays in human, mouse, rat BTBD3
	Custom PCR Arrays for BTBD3		Search Chromatin IP Primers for BTBD3
	Pre-validated RT² qPCR Primer Assay in human, mouse, rat BTBD3		Search GeneGlobe Interaction Network for BTBD3
	Regulatory tfbs in BTBD3 promoter

	GenScript Custom Purified and Recombinant Proteins Services for BTBD3		GenScript cDNA clones with any tag delivered in your preferred vector for BTBD3
	GenScript Custom Assay Services for BTBD3		GenScript Custom overexpressing Cell Line Services for BTBD3
	CloneReady with Over 120,000 Genes		Gene Synthesis: Any Gene in Any Vector
	Vector-based siRNA and miRNA, Ready for Transfection		Gene Mutant Library, Variants up to 10^11
	Plasmid Preparation		Custom Peptide Services

Search for Antibodies & Assays

Search Tocris compounds for BTBD3

	Browse Sino Biological Proteins
	Browse Sino Biological Cell Lysates
	Browse Sino Biological cDNA Clones
	4000+ Proteins
	Search Sino Biological for antibodies, proteins & pathways
	Protein Production Services
	Transfection Reagents
	Protein A/G/L resins
	Isotyping reagents

Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

	Novus Tissue Slides
	BTBD3 antibodies
	BTBD3 proteins
	BTBD3 lysates

	Antibodies for BTBD3
	See all of Abcam's Antibodies, Kits and Proteins for BTBD3
	Custom Antibody / Protein Production Service
	Bulk Purchasing
	Advantages of Rabbit Monoclonal antibodies
	Abcam protocols and scientific support

Browse ProSpec Recombinant Proteins

	Proteins for BTBD3
	Antibodies for BTBD3
	ELISAs for BTBD3
	CLIAs for BTBD3

Browse ESI BIO Cell Lines and PureStem Progenitors for BTBD3

	Gene Synthesis
	Protein Engineering
	Variant Library Synthesis
	Codon Optimization
	Protein Production and Purification

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BTBD3

	SwitchGear 3'UTR luciferase reporter plasmids for BTBD3
	SwitchGear Promoter luciferase reporter plasmids for BTBD3

Search ThermoFisher Antibodies for BTBD3

Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BTBD3

	inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for BTBD3
	inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for BTBD3

LSBio Antibodies in human, mouse, rat for BTBD3

Customized transgenic rodents for:

	Humanization
	Biomarker expression
	Off-target effect monitoring
	Translational medicine
	Tissue-specific gene expresssion
	Time-controlled gene expresssion

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

View Random Gene

Category			(GIFtS: )
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes BTBD3 gene at Home site.

Version: 3.12.142 28 July 2014
hostname: 356980-web2.xennexinc.com index build: 126 solr: 1.4

GeneCards Plus

Advanced Search

Export list of displayed genes

BTBD3 Gene

BTB (POZ) Domain Containing 3

Aliases
for BTBD3 gene

Summaries
for BTBD3 gene

Genomic Views
for BTBD3 gene

Proteins
for BTBD3 gene

BTBD3 Human Recombinant Protein Products:

BTBD3 Antibody Products:

BTBD3 Assay Products:

Domains /
Families
for BTBD3 gene

Function
for BTBD3 gene

Localization
for BTBD3 gene

Pathways & Interactions
for BTBD3 gene

Drugs & Compounds
for BTBD3 gene

Transcripts
for BTBD3 gene

Expression
for BTBD3 gene

Orthologs
for BTBD3 gene

Paralogs
for BTBD3 gene

Genomic Variants
for BTBD3 gene

Disorders / Diseases
for BTBD3 gene

Publications
for BTBD3 gene

External Searches for BTBD3 gene

Genome Databases showing BTBD3 gene

Other Databases showing BTBD3 gene

Specialized Databases showing BTBD3 gene

Intellectual Property
for BTBD3 gene

Products
for BTBD3 gene

View Random Gene

GeneCards Plus

Advanced Search

Export list of displayed genes

BTBD3 Gene

BTB (POZ) Domain Containing 3

Aliasesfor BTBD3 gene

Summariesfor BTBD3 gene

Genomic Viewsfor BTBD3 gene

Proteinsfor BTBD3 gene

BTBD3 Human Recombinant Protein Products:

BTBD3 Antibody Products:

BTBD3 Assay Products:

Domains /Familiesfor BTBD3 gene

Functionfor BTBD3 gene

Localizationfor BTBD3 gene

Pathways & Interactionsfor BTBD3 gene

Drugs & Compoundsfor BTBD3 gene

Transcriptsfor BTBD3 gene

Expression for BTBD3 gene

Orthologsfor BTBD3 gene

Paralogsfor BTBD3 gene

Genomic Variantsfor BTBD3 gene

Disorders / Diseasesfor BTBD3 gene

Publicationsfor BTBD3 gene

External Searches for BTBD3 gene

Genome Databases showing BTBD3 gene

Other Databases showing BTBD3 gene

Specialized Databases showing BTBD3 gene

Intellectual Propertyfor BTBD3 gene

Productsfor BTBD3 gene

View Random Gene

Aliases
for BTBD3 gene

Summaries
for BTBD3 gene

Genomic Views
for BTBD3 gene

Proteins
for BTBD3 gene

Domains /
Families
for BTBD3 gene

Function
for BTBD3 gene

Localization
for BTBD3 gene

Pathways & Interactions
for BTBD3 gene

Drugs & Compounds
for BTBD3 gene

Transcripts
for BTBD3 gene

Expression
for BTBD3 gene

Orthologs
for BTBD3 gene

Paralogs
for BTBD3 gene

Genomic Variants
for BTBD3 gene

Disorders / Diseases
for BTBD3 gene

Publications
for BTBD3 gene

Intellectual Property
for BTBD3 gene

Products
for BTBD3 gene