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KBTBD8 Gene

protein-coding GIFtS: 44

GC03P067132

kelch repeat and BTB (POZ) domain containing 8
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
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Aliases
FLJ57592 ^²
KIAA1842 ^¹, ², ³
TA-KRP ^¹, ², ³
TAKRP ^³

Descriptions
T-cell activation Kelch repeat protein ^², ³
kelch repeat and BTB (POZ) domain containing 8 ^²
kelch repeat and BTB domain containing 8 ^¹

External Ids
HGNC: 30691¹
Entrez Gene: 84541²
UniProtKB: Q8NFY9³
Ensembl: ENSG00000163376⁷

Search outside databases for aliases for KBTBD8 gene

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

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
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Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the KBTBD8 gene

Entrez Gene cytogenetic band: 3p14 Ensembl cytogenetic band: 3p14.1 HGNC cytogenetic band: 3p14

KBTBD8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 3 GeneLoc Exon Structure

GeneLoc location for GC03P067132: (about GC identifiers)

Start:	67,132,093 bp from pter
End:	67,144,324 bp from pter
Size:	12,232 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000003.10 NT_022459.14

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: KBTB8_HUMAN, Q8NFY9 (See protein sequence)

Recommended Name: Kelch repeat and BTB domain-containing protein 8

Size: 601 amino acids; 68823 Da

Secondary accessions: Q96JI5

REFSEQ proteins: NP_115894.2

ENSEMBL proteins:

ENSP00000295568

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse Abcam for Recombinant Proteins
	Browse Abnova for Human Recombinant Proteins

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

Antibodies for KBTBD8:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Browse Antibodies at Sigma-Aldrich
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	Search for antibodies at Abcam and the World's Antibody Gateway (free search engine of over 150 antibody companies)
	Browse Abnova for Monoclonal and Polyclonal Antibodies
	Search Novus for antibodies for KBTBD8

Assays for KBTBD8:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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Graphical View of Domain Structure for InterPro Entry Q8NFY9

ProtoNet protein and cluster: Q8NFY9

2 Blocks protein families:

IPB000210 BTB/POZ domain

IPB011705 BTB/Kelch-associated

UniProtKB/Swiss-Prot: KBTB8_HUMAN, Q8NFY9

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

Similarity: Contains 1 BTB (POZ) domain

Similarity: Contains 5 Kelch repeats

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (KBTBD8)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_032505

Applied Biosystems Silencer® siRNAs for KBTBD8

Sigma-Aldrich siRNA and siRNA Panels for KBTBD8

Sigma-Aldrich shRNA for KBTBD8

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clone Ranger at Invitrogen for clones
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clone in CMV expression vector: NM_032505
Myc/DDK tagged cDNA clone in CMV expression vector: NM_032505
untagged cDNA clone in CMV expression vector: NM_032505

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_032505

1 Gene Ontology (GO) molecular function term (links to tree view):

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

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for KBTBD8

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (KBTBD8)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_032505

Sigma-Aldrich siRNA and siRNA Panels for KBTBD8

Sigma-Aldrich shRNA for KBTBD8

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_032505

REFSEQ mRNAs for KBTBD8 gene:

NM_032505.2

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_032505

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_032505
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_032505
                                 untagged cDNA clone in CMV expression vector: NM_032505

Additional cDNA sequence:

AB058745.1 AF385438.1 AK096640.1 AK300397.1 BC117487.1

3 DOTS entries:

DT.40122674 DT.99939715 DT.120851800

24/33 AceView cDNA sequences (see all 33 ):

AW082136 NM_032505 AF385438 BU607490 AW082127 AB058745 BX508519 AA806600

AK096640 BI870209 AA278870 AA669114 AW768652 BQ435638 BM478850 AA278766

AW269444 CD521714 CF137986 BQ002224 AW500033 BI090797 CD358620 BU429296

highest scoring ESTs for KBTBD8:

AA669114 AA806600 AB058745 AF385438 AI914499 AJ714805 AK096640 AW082136 AW269444 AW500033

Unigene Cluster for KBTBD8:

Kelch repeat and BTB (POZ) domain containing 8

Hs.116665 [show with all ESTs]

Unigene Representative Sequence: AK096640

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for KBTBD8

ExUns:	1	^	2a	·	2b	^	3a	·	3b	·	3c	^	4a	·	4b
SP1:			-
SP2:			-		-		-		-		-
SP3:			-		-
SP4:

About this scheme

ECgene alternative splicing isoforms for KBTBD8

1 Ensembl transcript including schematic representation:

ENST00000295568

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

KBTBD8 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for KBTBD8

¹ / ² / ³

4 probe-sets matching KBTBD8 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
49753_at²^{, 3}	U95-B	1	1.00	1.00	0.62	0.32	AA806600	0.80	1.00	0.91	1
66269_at²^{, 3}	U95-C	1	1.00	1.00	1.00	1.00	AA669114	1.00	1.00	1.00	1
239835_at²^{, 3}	U133-B	1	1.00	1.00	--	--	AA669114	1.00	1.00	1.00	1
239835_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks KBTBD8 for binary patterns associated with the probe-sets selected above

About GeneDecksing

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: AAGGAATCAG

SOURCE GeneReport for Unigene cluster: Hs.116665

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for KBTBD8 gene from 5/7 species (see all 7 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	KBTBD8¹	--	kelch repeat and BTB (POZ) domain containing 8	94.72(n) 97.57(a)	484697 XM_848639.1 XP_853732.1
cow (Bos taurus)	KBTBD8¹	--	kelch repeat and BTB (POZ) domain containing 8	93.91(n) 98.26(a)	530516 XM_608990.3 XP_608990.2
rat (Rattus norvegicus)	Kbtbd8¹	--	kelch repeat and BTB (POZ) domain containing 8	91.73(n) 97.9(a)	500262 XM_575612.2 XP_575612.2
mouse (Mus musculus)	Kbtbd8^{1, 5}	6⁵	kelch repeat and BTB (POZ) domain containing 8^{1, 5}	92.84(n)¹ 98.25(a)¹	243574¹ NM_001008785.2¹ NP_001008785.1¹ AA546487⁵ AA675584⁵ (see all 15)
chicken (Gallus gallus)	KBTBD8¹	--	kelch repeat and BTB (POZ) domain containing 8	86.49(n) 90.96(a)	416085 XM_414420.2 XP_414420.1

About this table Species with no ortholog for KBTBD8

ENSEMBL Gene Tree for KBTBD8

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

Paralogs for KBTBD8 gene

KBTBD10² KBTBD5² KBTBD3² CCIN²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/58 NCBI SNPs in KBTBD8 are shown (see all 58 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 45)

AB	SNP ID	Valid	Chr 3 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
	rs6549576^1,2	A,C,F,H	67144708(+)	`ttcctG/Ctctct`	1	--	ng3¹		4		EU EA WA	412
	rs7623808^1,2	A,C,F,H	67143979(+)	`TATTTG/TTCACA`	1	--	ut3¹		10		EA NA EU WA	816
	rs13078632^1,2	C,F,H	67142243(+)	`TGTGTA/GTAACT`	1	--	ut3¹ ese³		10		NA EU EA WA	834
	rs6549575^1,2	C,F,H	67144650(+)	`atggcG/Agaggg`	1	--	ng3¹		8		EU EA WA	828
	rs13075459^1,2	C,F,H	67142839(+)	`ATAAAC/TCAACT`	1	--	ut3¹		7		NA EU EA WA	558
	rs9833720^1,2	C,F,H	67130667(+)	`TCCCCC/TTGTAA`	1	--	ng5¹		4		EU EA WA	418
	rs17045718^1,2	C,F,H	67143949(+)	`TTTGAA/CGAATG`	1	--	ut3¹ ese³		11		NA EU EA WA	976
	rs13096789^1,2	C,F,H	67137339(+)	`AGAATC/TGTTGG`	1	C/R	mis¹		12		EA NA EU WA	1052
	rs17045726^1,2	F,H	67144069(+)	`TCTACA/GAAGTT`	1	--	ut3¹ ese³		7		NA EU EA WA	558
	rs4856833^1,2	C	67131452(+)	`TGGAGC/TCGGGG`	1	--	ng5¹		0	--	--	--	--

About this table

HapMap Linkage Disequilibrium images for KBTBD8 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
About This Section

7 PubMed articles for KBTBD8 gene:

Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 11347906)^{2, 3, 4} Nagase T....Ohara O. (2001)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{3, 4} Gerhard D.S....Malek J. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{3, 4} Ota T....Sugano S. (2004)
Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)³ Kimura K.... Sugano S. (2006)
The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974)⁴ Sjoeblom T.... Velculescu V.E. (2006)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)³ Strausberg R.L....Marra M.A. (2002)
Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PubMed id 12168954)⁴ Nakajima D.... Nagase T. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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		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, and/or H-InvDB)
About This Section

Entrez Gene: 84541	HGNC: 30691	AceView: TA-KRP	Ensembl:ENSG00000163376	euGenes: HUgn84541
ECgene: KBTBD8	H-InvDB: KBTBD8

(According to HUGE)
About This Section

HUGE: KIAA1842

(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Licensable Technologies for KBTBD8
(Available from WIS Yeda, Salk, Tufts)

About This Section

(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
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Products for KBTBD8:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for KBTBD8-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for KBTBD8		Browse antibodies at Sigma-Aldrich
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KBTBD8 Gene

protein-coding GIFtS: 44

Aliases &
Descriptions
for KBTBD8

Summaries
for KBTBD8

Genomic Location
for KBTBD8

Proteins
for KBTBD8

Protein Domains/
Families
for KBTBD8

Gene Function
for KBTBD8

Pathways & Interactions
for KBTBD8

Drugs & Compounds
for KBTBD8

Transcripts
for KBTBD8

Expression
for KBTBD8

Orthologs
for KBTBD8

Paralogs
for KBTBD8

SNPs/Variants
for KBTBD8

Disorders & Mutations
for KBTBD8

Medical News
for KBTBD8

Publications
for KBTBD8

Search for KBTBD8

Genome Databases showing KBTBD8

Other Databases showing KBTBD8

Specialized Databases showing KBTBD8

Licensable Technologies
for KBTBD8

Services
for KBTBD8

Gene Index: 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

KBTBD8 Gene

protein-coding GIFtS: 44

Aliases & Descriptionsfor KBTBD8

Summariesfor KBTBD8

Genomic Locationfor KBTBD8

Proteinsfor KBTBD8

Protein Domains/Familiesfor KBTBD8

Gene Functionfor KBTBD8

Pathways & Interactionsfor KBTBD8

Drugs & Compoundsfor KBTBD8

Transcriptsfor KBTBD8

Expression for KBTBD8

Orthologsfor KBTBD8

Paralogsfor KBTBD8

SNPs/Variantsfor KBTBD8

Disorders & Mutationsfor KBTBD8

Medical Newsfor KBTBD8

Publicationsfor KBTBD8

Search for KBTBD8

Genome Databases showing KBTBD8

Other Databases showing KBTBD8

Specialized Databases showing KBTBD8

Licensable Technologiesfor KBTBD8

Servicesfor KBTBD8

Gene Index: 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

Aliases &
Descriptions
for KBTBD8

Summaries
for KBTBD8

Genomic Location
for KBTBD8

Proteins
for KBTBD8

Protein Domains/
Families
for KBTBD8

Gene Function
for KBTBD8

Pathways & Interactions
for KBTBD8

Drugs & Compounds
for KBTBD8

Transcripts
for KBTBD8

Expression
for KBTBD8

Orthologs
for KBTBD8

Paralogs
for KBTBD8

SNPs/Variants
for KBTBD8

Disorders & Mutations
for KBTBD8

Medical News
for KBTBD8

Publications
for KBTBD8

Licensable Technologies
for KBTBD8

Services
for KBTBD8