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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

KBTBD3 Gene

protein-coding GIFtS: 43
GCID: GC11M105921

kelch repeat and BTB (POZ) domain containing 3

(Previous name: BTB and kelch domain containing 3 )
(Previous symbol: BKLHD3)

Search for KBTBD3
in

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Kelch Repeat And BTB (POZ) Domain Containing 3¹ ²
BKLHD3¹ ² ³
BTB And Kelch Domain Containing 3¹ ²
BTB And Kelch Domain-Containing Protein 3² ³
Kelch Repeat And BTB Domain-Containing Protein 3²

External Ids:	HGNC: 22934¹	Entrez Gene: 143879²	Ensembl: ENSG00000182359⁷	UniProtKB: Q8NAB2³

Export aliases for KBTBD3 gene to outside databases

Previous GC identifers: GC11M105460 GC11M105459 GC11M105427 GC11M101852

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

(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_000011.9 NC_018922.1 NT_033899.8

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the KBTBD3 gene promoter:
AhR POU3F2 (N-Oct-5b) POU3F2 (N-Oct-5a) Nkx2-5 POU3F2 E47 Arnt Ik-2 HSF2 IRF-7A
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: KBTBD3 promoter sequence

Search SABiosciences Chromatin IP Primers for KBTBD3

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KBTBD3

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

Entrez Gene cytogenetic band: 11q22.3 Ensembl cytogenetic band: 11q22.3 HGNC cytogenetic band: 11q22.3

KBTBD3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KBTBD3 gene location

GeneLoc information about chromosome 11 GeneLoc Exon Structure

GeneLoc location for GC11M105921: view genomic region (about GC identifiers)

Start:	105,921,825 bp from pter	End:	105,948,492 bp from pter
Size:	26,668 bases	Orientation:	minus strand

(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: KBTB3_HUMAN, Q8NAB2 (See protein sequence)

Recommended Name: Kelch repeat and BTB domain-containing protein 3

Size: 608 amino acids; 69395 Da

Sequence caution: Sequence=AAI17467.1; Type=Erroneous initiation; Sequence=CAE45804.1; Type=Erroneous initiation;

Sequence=EAW67073.1; Type=Erroneous initiation;

Secondary accessions: Q6N066 Q86X38 Q96NK5

Explore the universe of human proteins at neXtProt for KBTBD3: NX_Q8NAB2

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q8NAB2

KBTBD3 Protein expression data from MOPED and PaxDb: --

REFSEQ proteins (2 alternative transcripts):

NP_689646.2 NP_940841.1

ENSEMBL proteins:

ENSP00000431910 ENSP00000436262 ENSP00000432163 ENSP00000433493

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

KBTBD3 for domains About GeneDecksing

5/7 InterPro domains/families (see all 7):

IPR017096 Kelch-like_gigaxonin

IPR000210 BTB/POZ-like

IPR006652 Kelch_1

IPR011333 BTB/POZ_fold

IPR013069 BTB_POZ

Graphical View of Domain Structure for InterPro Entry Q8NAB2

ProtoNet protein and cluster: Q8NAB2

2 Blocks protein families:

IPB000210 BTB/POZ domain

IPB011705 BTB/Kelch-associated

UniProtKB/Swiss-Prot: KBTB3_HUMAN, Q8NAB2

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

Similarity: Contains 1 BTB (POZ) domain

Similarity: Contains 5 Kelch repeats

(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

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In Situ Assay
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2 GenomeRNAi human phenotypes for KBTBD3:

Increased cell number in G1, a

Synthetic lethal with Ras

(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 Central^TM Interacting Genes and Proteins Networks for KBTBD3

1 Interacting protein for KBTBD3 (Q8NAB2³) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
MME	P08473³	I2D: score=2

About this table

(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 Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for KBTBD3
Search CenterWatch for drugs/clinical trials and news about KBTBD3 / KBTB3

(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,
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About This Section

REFSEQ mRNAs for KBTBD3 gene (2 alternative transcripts):

NM_152433.3 NM_198439.2

Unigene Cluster for KBTBD3:

Kelch repeat and BTB (POZ) domain containing 3

Hs.101949 [show with all ESTs]

Unigene Representative Sequence: NM_198439

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

ENST00000534815 ENST00000526793(uc001pja.3 uc001pjb.3 uc009yxm.3)

ENST00000531837 ENST00000532662 ENST00000531482 ENST00000528483 ENST00000526805

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		hsa-miR-579 hsa-miR-4251 hsa-miR-146a hsa-miR-181a-2* hsa-miR-659 hsa-miR-3143 hsa-miR-589 hsa-miR-548c-3p

		SwitchGear 3'UTR luciferase reporter plasmid: KBTBD3 3' UTR sequence

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Additional cDNA sequence:

AK055247.1 AK092993.1 AK124540.1 AK289915.1 BC047311.2 BC062667.1 BC107691.1 BC117466.1

BX640672.1 BX647830.1

7 DOTS entries:

DT.97836134 DT.210486 DT.443939 DT.101972846 DT.101980365 DT.120714442 DT.92418538

24/60 AceView cDNA sequences (see all 60):

BM450437 AI140748 AI225119 AK092993 AI091794 AI091086 BG613139 BM931798

N63448 AX747842 CD108218 AI284380 AA398844 AI948979 NM_152433 NM_198439

AI263779 BM511139 BC047311 AI768457 BQ717806 CD104687 BU561634 BX640672

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for KBTBD3 About this scheme

ExUns:	1	^	2a	·	2b	^	3a	·	3b	^	4a	·	4b
SP1:									-
SP2:			-		-				-
SP3:

ECgene alternative splicing isoforms for KBTBD3

(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

KBTBD3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AAACTACAAA

About this image

KBTBD3 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Limb

Limb Bud

Limb Bud Mesenchyme Cells

Mesoderm

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Genevestigator expression for KBTBD3

SOURCE GeneReport for Unigene cluster: Hs.101949

SABiosciences Custom PCR Arrays for KBTBD3

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In Situ
Assay Products:

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(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 chordates.

Orthologs for KBTBD3 gene from 3/15 species (see all 15) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	KBTBD3¹	kelch repeat and BTB (POZ) domain containing 3	78.64(n) 82.12(a)		418976 XM_417170.2 XP_417170.1
lizard (Anolis carolinensis)	Reptilia	KBTBD3⁶	--	78(a)	1 ↔ 1	3(190343572-190347340)
zebrafish (Danio rerio)	Actinopterygii	kbtbd3¹	kelch repeat and BTB (POZ) domain containing 3	57.25(n) 57.71(a)		100003277 XM_001342842.1 XP_001342878.1

ENSEMBL Gene Tree for KBTBD3 (if available)
TreeFam Gene Tree for KBTBD3 (if available)

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

Paralogs for KBTBD3 gene

KLHL38² KLHL21² KLHL29² KLHL6² KLHL23² KLHL11² KLHL24² KLHL25²

KLHL30² KLHL35² ENC1² CCIN²

18/35 SIMAP similar genes for KBTBD3 using alignment to 4 protein entries: KBTB3_HUMAN (see all proteins) (see all similar genes):

KLHL24 KLHL12 KBTBD2 KLHL2 KLHL23 KLHL28

KLHL9 KLHL13 KLHL38 ZBTB44 ZBTB8A KLHL5

ENC1 KLHL25 KLHL7 KLHL3 CCIN GAN

KBTBD3 for paralogs About GeneDecksing

(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

SNP ID	Valid	Clinical significance	Chr 11 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs7480362^1,2	C,H,	--	105921333(+)	`TTTCCA/CATAAG`	2	--	ds500¹		16		NS EA NA WA CSA	677
rs4539297^1,2	C,H,	--	105921381(+)	`GAGGCA/CAAATA`	2	--	ds500¹		15		NS EA NA WA CSA	560
rs56351451^1,2	C,	--	105921407(+)	`TAGCGG/CAGCAG`	2	--	ds500¹		3		NA WA	240
rs34491694^1,2	C,	--	105921442(+)	`TCAGG-/AAAAAA`	2	--	ds500¹		0	--	--	--	--
rs5794450^1,2	C	--	105921443(+)	`AAAAAA/-CAGTA`	2	--	ds500¹		1		NA	2
rs191648370^1,2		--	105921484(+)	`GATTAA/GACAGA`	2	--	ds500¹		0	--	--	--	--
rs12419116^1,2	H	--	105921663(+)	`GCCACC/TTAGGC`	2	--	ds500¹		4		NS EA	416
rs150080142^1,2		--	105921774(+)	`AAAAGG/TGATTT`	2	--	ds500¹		0	--	--	--	--
rs138668042^1,2		--	105921914(+)	`CTACTC/TACTGT`	2	--	ut3¹		0	--	--	--	--
rs17093811^1,2	C,F,H,	--	105921935(+)	`TTCTCA/CAATAA`	2	--	ut3¹		25		NA NS EA WA CSA	2900

HapMap Linkage Disequilibrium report for KBTBD3 (105921825 - 105948492 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for KBTBD3: --

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing KBTBD3

DNA2.0 Custom Variant and Variant Library Synthesis for KBTBD3

(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

(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 KBTBD3 gene integrated from 9 sources:
(articles sorted by number of sources associating them with KBTBD3)

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

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)
Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)¹ Kim W....Gygi S.P. (2011)
Investigation of low-dose ritonavir on human peripher al blood mononuclear cells using gene expression whole genome microarrays. (PubMed id 20353815)¹ Yilmaz S....McGregor J.L. (2010)
HSP27 and HSP70 interact with CD10 in C4-2 prostate cancer cells. (PubMed id 17342744)¹ Dall'Era M.A....Liu A.Y. (2007)
The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)² Bechtel S.... Schupp I. (2007)
Human chromosome 11 DNA sequence and analysis including novel gene identification. (PubMed id 16554811)² Taylor T.D....Sakaki Y. (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)

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

		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

Entrez Gene: 143879	HGNC: 22934	AceView: KBTBD3	Ensembl:ENSG00000182359	euGenes: HUgn143879
ECgene: KBTBD3	H-InvDB: KBTBD3

(According to HUGE)
About This Section

(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 KBTBD3	Pharmacogenomics, SNPs, Pathways

Intellectual Property for KBTBD3 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for KBTBD3 gene:
Search GeneIP for patents involving KBTBD3

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, 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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	QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat KBTBD3
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	QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat KBTBD3
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	GenScript Custom Purified and Recombinant Proteins Services for KBTBD3		GenScript cDNA clones with any tag delivered in your preferred vector for KBTBD3
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	GenScript Custom overexpressing Cell Line Services for KBTBD3		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
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Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KBTBD3

	SwitchGear 3'UTR luciferase reporter plasmids for KBTBD3
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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KBTBD3

GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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Category			VWF (GIFTS: 73) von Willebrand factor
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 6 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 KBTBD3 gene at Home site.

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KBTBD3 Gene

kelch repeat and BTB (POZ) domain containing 3

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KBTBD3 Gene

kelch repeat and BTB (POZ) domain containing 3

Aliasesfor KBTBD3 gene

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