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KBTBD4 Gene

protein-coding GIFtS: 43

GC11M047550

kelch repeat and BTB (POZ) domain containing 4
(Previous name: BTB and kelch domain containing 4 )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: BKLHD4)

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

Aliases
BKLHD4 ^², ³
FLJ10450 ^¹, ²
HSPC252 ^¹, ²

Descriptions
BTB and kelch domain containing 4 ^¹, ²
BTB and kelch domain-containing protein 4 ^³
kelch repeat and BTB (POZ) domain containing 4 ^²
kelch repeat and BTB domain containing 4 ^¹

External Ids
HGNC: 23761¹
Entrez Gene: 55709²
UniProtKB: Q9NVX7³
Ensembl: ENSG00000123444⁷

Search outside databases for aliases for KBTBD4 gene

Previous GC identifer: GC11M047558

(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 KBTBD4 gene

Entrez Gene cytogenetic band: 11p11.2 Ensembl cytogenetic band: 11p11.2 HGNC cytogenetic band: 11p11.2

KBTBD4 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 11 GeneLoc Exon Structure

GeneLoc location for GC11M047550: (about GC identifiers)

Start:	47,550,326 bp from pter
End:	47,557,101 bp from pter
Size:	6,776 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000011.8 NT_009237.17

(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: KBTB4_HUMAN, Q9NVX7 (See protein sequence)

Recommended Name: Kelch repeat and BTB domain-containing protein 4

Size: 518 amino acids; 58144 Da

PDB structures from and Proteopedia :

2EQX (3D)

Secondary accessions: Q6IA85 Q9BUC3 Q9NV76

REFSEQ proteins (2 alternative transcripts):

NP_057590.3 NP_060565.4

ENSEMBL proteins:

ENSP00000352971 ENSP00000378701 ENSP00000350422 ENSP00000378703

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 KBTBD4:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Browse Antibodies at Sigma-Aldrich
	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 KBTBD4

Assays for KBTBD4:

	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 Q9NVX7

ProtoNet protein and cluster: Q9NVX7

3 Blocks protein families:

IPB000210 BTB/POZ domain

IPB011498 Kelch

IPB011705 BTB/Kelch-associated

UniProtKB/Swiss-Prot: KBTB4_HUMAN, Q9NVX7

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 (KBTBD4)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): NR_024222

Applied Biosystems Silencer® siRNAs for KBTBD4

Sigma-Aldrich siRNA and siRNA Panels for KBTBD4

Sigma-Aldrich shRNA for KBTBD4

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 clones in CMV expression vector (see all 2): NM_016506
Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_016506
untagged cDNA clones in CMV expression vector (see all 2): NM_016506

Primers:

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

OriGene genome-wide validated SYBR primer pairs: NM_018095

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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2 Interacting proteins for KBTBD4 (ENSP00000350422³) via UniProtKB, MINT, and/or STRING

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
AGBL2	ENSP00000350228³	STRING (score=.712)
SYT13	ENSP00000020926³	STRING (score=.7)

About this table

(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 KBTBD4

(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 (KBTBD4)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): NR_024222

Sigma-Aldrich siRNA and siRNA Panels for KBTBD4

Sigma-Aldrich shRNA for KBTBD4

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_016506 NM_018095

REFSEQ mRNAs for KBTBD4 gene (2 alternative transcripts):

NM_016506.5 NM_018095.4

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_016506 NM_018095

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_016506
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_016506
                                 untagged cDNA clones in CMV expression vector (see all 2): NM_016506

Additional cDNA sequence:

AK001312.1 AK001749.1 AK091607.1 AK222550.1 AK222985.1 AK225062.1 AL713735.1 BC002736.2

CR457270.1 CR611741.1 CR616082.1

10 DOTS entries:

DT.85104508 DT.92444702 DT.92444706 DT.100821907 DT.214236 DT.92444708 DT.120735733 DT.120735666

DT.75187930 DT.100719428

24/149 AceView cDNA sequences (see all 149 ):

BX325285 BI859927 BQ066797 BM457188 BI767307 BU154139 CR616082 BU192838

BI836155 BI598003 CR611741 BM758422 BM926918 BU155772 BM758688 BM783251

CF994882 BQ057933 BQ221609 AA360184 AL545694 AL539902 AL713735 BI831955

highest scoring ESTs for KBTBD4:

AF151086 AL566521 BI520833 BM873959 CA336794 AA626176 AU126477 BE174043 BE383295 BI598003

Unigene Cluster for KBTBD4:

Kelch repeat and BTB (POZ) domain containing 4

Hs.718483 [show with all ESTs]

Unigene Representative Sequence: AK091607

GeneLoc Exon Structure

4 Ensembl transcripts including schematic representations:

ENST00000359900 ENST00000395286 ENST00000357777 ENST00000395288

(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

KBTBD4 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for KBTBD4

¹ / ² / ³

7 probe-sets matching KBTBD4 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
91998_at²^{, 3}	U95-E	1	1.00	1.00	1.00	1.00	AA626176	0.60	0.75	0.68	1
223765_s_at²^{, 3}	U133-B	1	1.00	1.00	--	--	AF151086	0.60	0.83	0.73	1
218570_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_018095	0.40	0.67	0.55	1
218569_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_018095	0.40	0.67	0.55	1
223765_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
218570_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
218569_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks KBTBD4 for binary patterns associated with the probe-sets selected above

About GeneDecksing

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Data from

(Publications) and GNF BioGPS
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About these images

CGAP SAGE TAG: GAGGTGTTCT

SOURCE GeneReport for Unigene cluster: Hs.718483

(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 KBTBD4 gene from 5/8 species (see all 8 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	KBTBD4¹	--	kelch repeat and BTB (POZ) domain containing 4	94.02(n) 99.23(a)	483621 XM_540741.2 XP_540741.2
chimpanzee (Pan troglodytes)	KBTBD4¹	--	kelch repeat and BTB (POZ) domain containing 4	99.81(n) 99.61(a)	451174 XM_508415.2 XP_508415.2
cow (Bos taurus)	KBTBD4¹	--	kelch repeat and BTB (POZ) domain containing 4	92.92(n) 98.65(a)	617482 NM_001076463.1 NP_001069931.1
rat (Rattus norvegicus)	Kbtbd4¹	--	kelch repeat and BTB (POZ) domain containing 4	92.15(n) 99.03(a)	311185 XM_230307.4 XP_230307.4
mouse (Mus musculus)	Kbtbd4^{1, 5}	2⁵	kelch repeat and BTB (POZ) domain containing 4^{1, 5}	91.63(n)¹ 99.23(a)¹	67136¹ NM_025991.2¹ NP_080267.1¹ AA002839⁵ AK010998⁵ (see all 10)

About this table Species with no ortholog for KBTBD4

ENSEMBL Gene Tree for KBTBD4

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

Paralogs for KBTBD4 gene

SPOP² SPOPL²

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

10/27 NCBI SNPs in KBTBD4 are shown (see all 27 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 33)

AB	SNP ID	Valid	Chr 11 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
--	rs6416137^1,2	A,C	47550521(+)	`GATGGA/CTAAGA`	2	--	ut3¹ ese³		0	--	--	--	--
	rs11039302^1,2	C,H	47551627(+)	`GGCATC/TTTTCC`	2	D/N	mis¹		4		EU EA WA	414
--	rs7105784^1,2	A,C	47554521(+)	`tgcccA/Gcctcg`	2	--	int¹		0	--	--	--	--
--	rs6485760^1,2	A,C	47554177(+)	`ggtctC/Gactgt`	2	--	int¹		0	--	--	--	--
--	rs7105845^1,2	A,C	47554765(+)	`CCCATC/GTGCCA`	2	--	int¹		0	--	--	--	--
--	rs9666433^1,2	A	47553365(+)	`ggcgcC/Gggggc`	2	--	int¹		0	--	--	--	--
	rs61751915^1,2	--	47551898(+)	`TAAATC/TTGCAC`	4	H/Q	mis¹		0	--	--	--	--
--	rs3207211^1,2	--	47551117(+)	`AGTTAC/TGGCTG`	2	V/I	mis¹ ese³		1		MN	184
--	rs61978569^1,2	--	47551118(+)	`GTTACC/TGCTGA`	4	A/A	syn¹		0	--	--	--	--
--	rs35920762^1,2	--	47551835(+)	`TCTTCA/TGCACA`	2	A/A	syn¹		0	--	--	--	--

About this table

HapMap Linkage Disequilibrium images for KBTBD4 (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 KBTBD4 gene:

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)
Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PubMed id 11042152)^{2, 3} Zhang Q.H....Chen Z. (2000)
The full-ORF clone resource of the German cDNA Consortium. (PubMed id 17974005)⁴ Bechtel S....Schupp I. (2007)
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)
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 and characterization of a full length-enriched and a 5'- end-enriched cDNA library. (PubMed id 9373149)³ Suzuki Y.... Sugano S. (1997)

(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: 55709	HGNC: 23761	AceView: KBTBD4	Ensembl:ENSG00000123444	euGenes: HUgn55709
ECgene: KBTBD4	H-InvDB: KBTBD4

(According to HUGE)
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(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 KBTBD4
(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 KBTBD4:

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 KBTBD4-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 KBTBD4		Browse antibodies at Sigma-Aldrich
	Explore super-pooled esiRNAs		Browse proteins at Sigma-Aldrich
	Lentivirus-delivered shRNAs for KBTBD4		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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Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies

Search Novus for antibodies for KBTBD4

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KBTBD4 Gene

protein-coding GIFtS: 43

Aliases &
Descriptions
for KBTBD4

Summaries
for KBTBD4

Genomic Location
for KBTBD4

Proteins
for KBTBD4

Protein Domains/
Families
for KBTBD4

Gene Function
for KBTBD4

Pathways & Interactions
for KBTBD4

Drugs & Compounds
for KBTBD4

Transcripts
for KBTBD4

Expression
for KBTBD4

Orthologs
for KBTBD4

Paralogs
for KBTBD4

SNPs/Variants
for KBTBD4

Disorders & Mutations
for KBTBD4

Medical News
for KBTBD4

Publications
for KBTBD4

Search for KBTBD4

Genome Databases showing KBTBD4

Other Databases showing KBTBD4

Specialized Databases showing KBTBD4

Licensable Technologies
for KBTBD4

Services
for KBTBD4

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

KBTBD4 Gene

protein-coding GIFtS: 43

Aliases & Descriptionsfor KBTBD4

Summariesfor KBTBD4

Genomic Locationfor KBTBD4

Proteinsfor KBTBD4

Protein Domains/Familiesfor KBTBD4

Gene Functionfor KBTBD4

Pathways & Interactionsfor KBTBD4

Drugs & Compoundsfor KBTBD4

Transcriptsfor KBTBD4

Expression for KBTBD4

Orthologsfor KBTBD4

Paralogsfor KBTBD4

SNPs/Variantsfor KBTBD4

Disorders & Mutationsfor KBTBD4

Medical Newsfor KBTBD4

Publicationsfor KBTBD4

Search for KBTBD4

Genome Databases showing KBTBD4

Other Databases showing KBTBD4

Specialized Databases showing KBTBD4

Licensable Technologiesfor KBTBD4

Servicesfor KBTBD4

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 KBTBD4

Summaries
for KBTBD4

Genomic Location
for KBTBD4

Proteins
for KBTBD4

Protein Domains/
Families
for KBTBD4

Gene Function
for KBTBD4

Pathways & Interactions
for KBTBD4

Drugs & Compounds
for KBTBD4

Transcripts
for KBTBD4

Expression
for KBTBD4

Orthologs
for KBTBD4

Paralogs
for KBTBD4

SNPs/Variants
for KBTBD4

Disorders & Mutations
for KBTBD4

Medical News
for KBTBD4

Publications
for KBTBD4

Licensable Technologies
for KBTBD4

Services
for KBTBD4