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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

KBTBD8 Gene

protein-coding GIFtS: 46
GCID: GC03P067132

kelch repeat and BTB (POZ) domain containing 8

Search for KBTBD8
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 8¹ ²
TA-KRP¹ ² ³
KIAA1842¹ ³
T-Cell Activation Kelch Repeat Protein² ³
Kelch Repeat And BTB Domain-Containing Protein 8²
TAKRP³

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

Export aliases for KBTBD8 gene to outside databases

(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_000003.11 NC_018914.1 NT_022459.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the KBTBD8 gene promoter:
Oct-B1 Sox5 oct-B3 oct-B2 LCR-F1 POU3F2 POU2F2 POU2F1 POU2F1a Cart-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: KBTBD8 promoter sequence

Search SABiosciences Chromatin IP Primers for KBTBD8

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KBTBD8

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

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)
KBTBD8 gene location

GeneLoc information about chromosome 3 GeneLoc Exon Structure

GeneLoc location for GC03P067132: view genomic region (about GC identifiers)

Start:	67,048,727 bp from pter	End:	67,061,634 bp from pter
Size:	12,908 bases	Orientation:	plus 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: KBTB8_HUMAN, Q8NFY9 (See protein sequence)

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

Size: 601 amino acids; 68823 Da

Sequence caution: Sequence=AAI17488.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

Sequence=AAM43839.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

Secondary accessions: Q96JI5

Explore the universe of human proteins at neXtProt for KBTBD8: NX_Q8NFY9

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q8NFY9

KBTBD8 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_115894.2

ENSEMBL proteins:

ENSP00000417341 ENSP00000419738 ENSP00000401878 ENSP00000418075 ENSP00000295568

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

KBTBD8 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 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 ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Animal Models:

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for KBTBD8

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KBTBD8

(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 KBTBD8

1 Interacting protein for KBTBD8 (Q8NFY9³) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
KBTBD7	Q8WVZ9³	I2D: score=1

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 KBTBD8
Search CenterWatch for drugs/clinical trials and news about KBTBD8 / KBTB8

(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,
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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 KBTBD8 gene:

NM_032505.2

Unigene Cluster for KBTBD8:

Kelch repeat and BTB (POZ) domain containing 8

Hs.116665 [show with all ESTs]

Unigene Representative Sequence: AK096640

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

ENST00000484414 ENST00000469661 ENST00000460576 ENST00000417314 ENST00000460784

ENST00000295568(uc003dmy.3 uc011bfv.2)

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		8/50 QIAGEN miScript miRNA Assays for microRNAs that regulate KBTBD8 (see all 50):
		hsa-miR-429 hsa-miR-513a-5p hsa-miR-139-5p hsa-miR-128 hsa-miR-29a hsa-miR-25 hsa-miR-219-5p hsa-miR-301a

		SwitchGear 3'UTR luciferase reporter plasmid: KBTBD8 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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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):

AA806600 BU607490 BX508519 AW082136 NM_032505 AW082127 AB058745 AF385438

AW768652 BQ435638 AA278870 CD521714 AA669114 BM478850 AK096640 AA278766

BQ002224 CF137986 AW269444 AW500033 BI870209 CD358620 BF512449 BQ435605

GeneLoc Exon Structure

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

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

ECgene alternative splicing isoforms for KBTBD8

(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

KBTBD8 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AAGGAATCAG

About this image

KBTBD8 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)

Testis

Seminiferous Tubules

Secondary Spermatocyte

Germ Cells, Male Gametocytes

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See KBTBD8 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for KBTBD8

SOURCE GeneReport for Unigene cluster: Hs.116665

SABiosciences Custom PCR Arrays for KBTBD8

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for KBTBD8 Browse OriGene validated miRNA SYBR primer pairs
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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 KBTBD8 gene from 4/17 species (see all 17) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	KBTBD8¹	kelch repeat and BTB (POZ) domain containing 8	85.81(n) 89.32(a)		416085 XM_414420.3 XP_414420.2
lizard (Anolis carolinensis)	Reptilia	KBTBD8⁶ -- (see all 7)	--	87(a) 23(a) (see all 7)	1 ↔ 1 possible ortholog (see all 7)	2(184158433-184166148) GL343870.1(102215-104619)
African clawed frog (Xenopus laevis)	Amphibia	Xl.13285²	Xenopus laevis transcribed sequence with weak similarity more	79.2(n)		BJ613456.1
zebrafish (Danio rerio)	Actinopterygii	wufc57a10²	wufc57a10	76.47(n)		325164 BI704218.1

ENSEMBL Gene Tree for KBTBD8 (if available)
TreeFam Gene Tree for KBTBD8 (if available)

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

Paralogs for KBTBD8 gene

KBTBD12² KLHL40² KBTBD7² KLHL7² KBTBD2² KLHL41² KBTBD6²

18/24 SIMAP similar genes for KBTBD8 using alignment to 4 protein entries: KBTB8_HUMAN (see all proteins) (see all similar genes):

KLHL17 KLHL28 KLHL3 KLHL2 KLHL18 KLHL5

KEAP1 KLHL7 ZBTB7C KBTBD6 KLHL1 KLHL24

KLHL20 KLHL32 KBTBD3 KLHL22 ZBTB21 ZBTB49

KBTBD8 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 3 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs142051068^1,2		--	67046739(+)	`TTGTAG/TTCTGC`	1	--	us2k¹		0	--	--	--	--
rs147781001^1,2		--	67046813(+)	`AACAAC/TATTGT`	1	--	us2k¹		0	--	--	--	--
rs73836452^1,2	C	--	67047055(+)	`CCTGTT/ATTTTT`	1	--	us2k¹		1		WA	2
rs146997198^1,2		--	67047102(+)	`ATTAAC/TGCCAT`	1	--	us2k¹		0	--	--	--	--
rs9823995^1,2	C,F,A,H	--	67047119(+)	`CCTCAG/ATACTA`	1	--	us2k¹ tfbs³		12		NA WA CSA EA	377
rs73836453^1,2	C	--	67047280(+)	`GCATAT/CGTATA`	1	--	us2k¹		3		WA CSA	122
rs116770672^1,2	F	--	67047287(+)	`TATATG/ACAGAA`	1	--	us2k¹		1		WA	118
rs114756063^1,2	F	--	67047306(+)	`CATGAG/AGAAAC`	1	--	us2k¹		1		WA	118
rs9828058^1,2	C,F,A,H	--	67047378(+)	`CTAGAA/GGACAG`	1	--	us2k¹		28		NS EA NA WA CSA	2690
rs77447570^1,2	C	--	67047465(+)	`TTCAAC/AGGTTT`	1	--	us2k¹		2		NA	122

HapMap Linkage Disequilibrium report for KBTBD8 (67048727 - 67061634 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for KBTBD8: --

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing KBTBD8

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(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

KBTBD8 for disorders About MalaCards

KBTBD8 for disorders About GeneDecksing

Human Genome Epidemiology (HuGE) Navigator: KBTBD8 (1 document)

Export disorders for KBTBD8 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

PubMed articles for KBTBD8 gene, integrated from 9 sources (see all 13):
(articles sorted by number of sources associating them with KBTBD8)

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

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)^{1, 2, 3} 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)^{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)
Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations. (PubMed id 22797727)¹ Okada Y....Tanaka T. (2012)
Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)¹ Udeshi N.D....Carr S.A. (2012)
Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)¹ Danielsen J.M....Nielsen M.L. (2011)
Identification of 15 loci influencing height in a Kor ean population. (PubMed id 19893584)¹ Kim J.J....Lee J.K. (2010)
Dynamics of cullin-RING ubiquitin ligase network revea led by systematic quantitative proteomics. (PubMed id 21145461)¹ Bennett E.J....Harper J.W. (2010)
The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974)² Sjoeblom T.... Velculescu V.E. (2006)
The DNA sequence, annotation and analysis of human chromosome 3. (PubMed id 16641997)² Muzny D.M....Gibbs R.A. (2006)

(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: 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 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 KBTBD8	Pharmacogenomics, SNPs, Pathways

Intellectual Property for KBTBD8 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for KBTBD8 gene:
Search GeneIP for patents involving KBTBD8

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 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, 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, Animal models from inGenious Targeting Laboratory)
About This Section


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	Browse OriGene Antibodies		OriGene shRNA RFP for KBTBD8
	OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for KBTBD8		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for KBTBD8
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	Browse OriGene GFP tagged cDNA clones in CMV expression vector		Browse OriGene MicroRNA Expression Plasmids
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	QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat KBTBD8
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	GenScript Custom Purified and Recombinant Proteins Services for KBTBD8		GenScript cDNA clones with any tag delivered in your preferred vector for KBTBD8
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	GenScript Custom overexpressing Cell Line Services for KBTBD8		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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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KBTBD8

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ThermoFisher Antibodies for KBTBD8

Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KBTBD8

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for KBTBD8

Sirion Biotech Customized:

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GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 14 May 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 KBTBD8 gene at Home site.

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KBTBD8 Gene

kelch repeat and BTB (POZ) domain containing 8

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KBTBD8 Gene

kelch repeat and BTB (POZ) domain containing 8

Aliasesfor KBTBD8 gene

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for KBTBD8 gene

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