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KBTBD2 Gene

protein-coding GIFtS: 47

GC07M032874

kelch repeat and BTB (POZ) domain containing 2
(Previous name: BTB and kelch domain containing 1 )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: BKLHD1)

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

Aliases
BKLHD1 ^², ³
DKFZP566C134 ^¹
KIAA1489 ^³

Descriptions
BTB and kelch domain containing 1 ^¹, ²
BTB and kelch domain-containing protein 1 ^³
kelch repeat and BTB (POZ) domain containing 2 ^²
kelch repeat and BTB domain containing 2 ^¹

External Ids
HGNC: 21751¹
Entrez Gene: 25948²
UniProtKB: Q8IY47³
Ensembl: ENSG00000170852⁷

Search outside databases for aliases for KBTBD2 gene

Previous GC identifers: GC07M032650 GC07M032681

(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)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the KBTBD2 gene

Entrez Gene cytogenetic band: 7p14.3 Ensembl cytogenetic band: 7p14.3 HGNC cytogenetic band: 7p14.3

KBTBD2 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 7 GeneLoc Exon Structure

GeneLoc location for GC07M032874: (about GC identifiers)

Start:	32,874,309 bp from pter
End:	32,897,897 bp from pter
Size:	23,589 bases
Orientation:	minus strand

1 alternative location:

Chr7-,CRA_TCAG 32,952,298-32,975,882

RefSeq DNA sequence:

NC_000007.12 NT_007819.16 NT_079592.2

(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: KBTB2_HUMAN, Q8IY47 (See protein sequence)

Recommended Name: Kelch repeat and BTB domain-containing protein 2

Size: 623 amino acids; 71331 Da

Sequence caution: Sequence=AAD34068.1; Type=Frameshift; Positions=328;

Secondary accessions: Q86Y62 Q9P239 Q9UFM7 Q9Y382

REFSEQ proteins: NP_056298.2

ENSEMBL proteins:

ENSP00000302586

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
	Human Recombinant Proteins from Abnova (KBTBD2)

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

Antibodies for KBTBD2:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Sigma-Aldrich Antibodies for KBTBD2
	Browse R&D Systems for Antibodies
	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 KBTBD2

Assays for KBTBD2:

	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 Q8IY47

ProtoNet protein and cluster: Q8IY47

2 Blocks protein families:

IPB000210 BTB/POZ domain

IPB011705 BTB/Kelch-associated

UniProtKB/Swiss-Prot: KBTB2_HUMAN, Q8IY47

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 (KBTBD2)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): XM_291224

Applied Biosystems Silencer® siRNAs for KBTBD2

Sigma-Aldrich siRNA and siRNA Panels for KBTBD2

Sigma-Aldrich shRNA for KBTBD2

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for KBTBD2
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clone in CMV expression vector: NM_015483
Myc/DDK tagged cDNA clone in CMV expression vector: NM_015483
untagged cDNA clones in CMV expression vector (see all 3): AK024557

Primers:

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

OriGene genome-wide validated SYBR primer pairs: NM_015483

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 KBTBD2

(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 (KBTBD2)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): XM_291224

Sigma-Aldrich siRNA and siRNA Panels for KBTBD2

Sigma-Aldrich shRNA for KBTBD2

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_015483

REFSEQ mRNAs for KBTBD2 gene:

NM_015483.2

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_015483

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_015483
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_015483
                                 untagged cDNA clones in CMV expression vector (see all 3): AK024557

Additional cDNA sequence:

AB040922.1 AF004292.1 AF151831.1 AF161402.1 AK024557.1 AK292802.1 AL117562.1 BC014633.2

BC032367.1 BC037887.2 BC047107.1 CR595245.1

8 DOTS entries:

DT.95254707 DT.95250793 DT.100651115 DT.455927 DT.92408958 DT.121048751 DT.100697036 DT.40228743

24/279 AceView cDNA sequences (see all 279 ):

AI186623 BM477757 AI886138 BQ881191 BF590286 BQ018887 AA159567 BX507403

BM795991 BQ005159 BM472868 AI078568 BM955897 AI022320 BX111844 BM697561

AW135618 AI129345 BE464083 AI142924 BE093069 AI498827 AI424526 BX280502

highest scoring ESTs for KBTBD2:

AL119496 AF004292 AL600054 BC037887 BC047107 BG714476 BI547148 BI550860 BM449853 CB960260

Unigene Cluster for KBTBD2:

Kelch repeat and BTB (POZ) domain containing 2

Hs.372541 [show with all ESTs]

Unigene Representative Sequence: AB040922

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for KBTBD2

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

About this scheme

ECgene alternative splicing isoforms for KBTBD2

1 Ensembl transcript including schematic representation:

ENST00000304056

(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

KBTBD2 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for KBTBD2

¹ / ² / ³

11 probe-sets matching KBTBD2 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
56071_at²^{, 3}	U95-B	1	1.00	1.00	0.95	0.76	AL119496	1.00	1.00	1.00	1
44961_at²^{, 3}	U95-B	1	1.00	1.00	0.34	1.13	N74409	0.80	1.00	0.91	1
32807_at²^{, 3}	U95-A	1	1.00	1.00	0.96	1.13	AF004292	0.80	1.00	0.91	1
212447_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AF161402	0.60	1.00	0.82	1
223584_s_at²^{, 3}	U133-B	1	1.00	1.00	--	--	BF000166	0.60	1.00	0.82	1
223585_x_at²^{, 3}	U133-B	1	1.00	1.00	--	--	AF151831	0.60	1.00	0.82	1
234793_at*²^{, 3}	U133-B	NULL	0.00	0.00	--	--	AK024577	0.40	1.00	0.76	1
212447_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
223584_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
223585_x_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
234793_at*²	U133Plus2	NULL	0.00	0.00	--	--	--	--	--	--	--

GeneDecks KBTBD2 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: TTCTGGCACT

SOURCE GeneReport for Unigene cluster: Hs.372541
Expression variation in blood from EXPOLDB for KBTBD2

(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 KBTBD2 gene from 5/10 species (see all 10 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	KBTBD2¹	--	kelch repeat and BTB (POZ) domain containing 2	94.33(n) 99.04(a)	482391 XM_539508.2 XP_539508.2
chimpanzee (Pan troglodytes)	KBTBD2¹	--	kelch repeat and BTB (POZ) domain containing 2	99.46(n) 99.52(a)	463336 XM_001167893.1 XP_001167893.1
cow (Bos taurus)	KBTBD2¹	--	kelch repeat and BTB (POZ) domain containing 2	94.33(n) 97.75(a)	514920 XM_592838.3 XP_592838.2
rat (Rattus norvegicus)	Kbtbd2¹	--	kelch repeat and BTB (POZ) domain containing 2	91.76(n) 98.39(a)	312372 XM_231798.4 XP_231798.4
mouse (Mus musculus)	Kbtbd2^{1, 5}	6⁵	kelch repeat and BTB (POZ) domain containing 2^{1, 5}	92.11(n)¹ 98.72(a)¹	210973¹ NM_145958.1¹ NP_666070.1¹ AI851942⁵ AK028396⁵ (see all 10)

About this table Species with no ortholog for KBTBD2

ENSEMBL Gene Tree for KBTBD2

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

Paralogs for KBTBD2 gene

KLHL21² KLHL29²

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

10/151 NCBI SNPs in KBTBD2 are shown (see all 151 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 42)

AB	SNP ID	Valid	Chr 7 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
	rs1045530^1,2	A,C,F,H	32874660(-)	`AGAGTG/CGGTTA`	1	--	ut3¹		11		NA EU EA WA	978
	rs1045477^1,2	C,F,H,O	32875229(-)	`TAAGAA/GTCTGG`	1	--	ut3¹		8		MN NA EU EA WA	742
	rs6462427^1,2	A,C,F,H	32873869(+)	`TAGCAT/CAAAAA`	1	--	ng5¹		12		EA NA EU WA	1032
	rs35477666^1,2	C,F	32876777(+)	`AACGGT/GTTCTT`	1	P/T	mis¹		5		NA EU EA WA	468
	rs896175^1,2	A,C	32874812(-)	`TTGCTG/AGGCTT`	1	--	ut3¹ ese³		1		MN	184
--	rs7781523^1,2	A	32898448(+)	`CCGAGA/GCCTTG`	1	--	ng3¹		0	--	--	--	--
--	rs6946853^1,2	A	32897981(+)	`cgccgC/TcTTGT`	1	--	ng3¹		0	--	--	--	--
--	rs17857324^1,2	H	32876452(+)	`CTGGTG/CGGCTA`	1	R/P	mis¹ ese³		4		EU EA WA	416
--	rs11540504^1,2	H	32876256(-)	`CCAATG/TCTTTT`	1	M/I	mis¹ ese³		4		EU EA WA	406
--	rs7781666^1,2	A	32898476(+)	`GGAGAA/GGCCCG`	1	--	ng3¹		0	--	--	--	--

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HapMap Linkage Disequilibrium images for KBTBD2 (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

5 PubMed articles for KBTBD2 gene:

Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10819331)^{2, 3, 4} Nagase T....Ohara O. (2000)
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)
Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PubMed id 10810093)^{3, 4} Lai C.H....Lin W. (2000)
The full-ORF clone resource of the German cDNA Consortium. (PubMed id 17974005)⁴ Bechtel S....Schupp I. (2007)
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)

(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)
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Entrez Gene: 25948	HGNC: 21751	AceView: KBTBD2	Ensembl:ENSG00000170852	euGenes: HUgn25948
ECgene: KBTBD2	H-InvDB: KBTBD2

(According to HUGE)
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HUGE: KIAA1489

(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 KBTBD2
(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)
About This Section

Products for KBTBD2:

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 KBTBD2-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 KBTBD2		Antibodies for KBTBD2
	Explore super-pooled esiRNAs		Browse proteins at Sigma-Aldrich
	Lentivirus-delivered shRNAs for KBTBD2		Browse small molecules at Sigma-Aldrich
	"Your Favorite Gene" Pathways		feedback

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	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
	Recombinant & Natural Proteins

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KBTBD2 Gene

protein-coding GIFtS: 47

Aliases &
Descriptions
for KBTBD2

Summaries
for KBTBD2

Genomic Location
for KBTBD2

Proteins
for KBTBD2

Protein Domains/
Families
for KBTBD2

Gene Function
for KBTBD2

Pathways & Interactions
for KBTBD2

Drugs & Compounds
for KBTBD2

Transcripts
for KBTBD2

Expression
for KBTBD2

Orthologs
for KBTBD2

Paralogs
for KBTBD2

SNPs/Variants
for KBTBD2

Disorders & Mutations
for KBTBD2

Medical News
for KBTBD2

Publications
for KBTBD2

Search for KBTBD2

Genome Databases showing KBTBD2

Other Databases showing KBTBD2

Specialized Databases showing KBTBD2

Licensable Technologies
for KBTBD2

Services
for KBTBD2

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

KBTBD2 Gene

protein-coding GIFtS: 47

Aliases & Descriptionsfor KBTBD2

Summariesfor KBTBD2

Genomic Locationfor KBTBD2

Proteinsfor KBTBD2

Protein Domains/Familiesfor KBTBD2

Gene Functionfor KBTBD2

Pathways & Interactionsfor KBTBD2

Drugs & Compoundsfor KBTBD2

Transcriptsfor KBTBD2

Expression for KBTBD2

Orthologsfor KBTBD2

Paralogsfor KBTBD2

SNPs/Variantsfor KBTBD2

Disorders & Mutationsfor KBTBD2

Medical Newsfor KBTBD2

Publicationsfor KBTBD2

Search for KBTBD2

Genome Databases showing KBTBD2

Other Databases showing KBTBD2

Specialized Databases showing KBTBD2

Licensable Technologiesfor KBTBD2

Servicesfor KBTBD2

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 KBTBD2

Summaries
for KBTBD2

Genomic Location
for KBTBD2

Proteins
for KBTBD2

Protein Domains/
Families
for KBTBD2

Gene Function
for KBTBD2

Pathways & Interactions
for KBTBD2

Drugs & Compounds
for KBTBD2

Transcripts
for KBTBD2

Expression
for KBTBD2

Orthologs
for KBTBD2

Paralogs
for KBTBD2

SNPs/Variants
for KBTBD2

Disorders & Mutations
for KBTBD2

Medical News
for KBTBD2

Publications
for KBTBD2

Licensable Technologies
for KBTBD2

Services
for KBTBD2