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ZBTB48 Gene

protein-coding GIFtS: 44

GC01P006562

zinc finger and BTB domain containing 48
(Previous name: GLI-Kruppel family member HKR3 )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: HKR3)

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
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Aliases
HKR3 ^², ³
OTTHUMP00000001574 ^²
ZNF855 ^¹, ²
pp9964 ^²

Descriptions
GLI-Kruppel family member HKR3 ^¹, ²
Krueppel-related zinc finger protein 3 ^³
Protein HKR3 ^³
zinc finger and BTB domain containing 48 ^²

External Ids
HGNC: 4930¹
Entrez Gene: 3104²
UniProtKB: P10074³
Ensembl: ENSG00000204859⁷

Search outside databases for aliases for ZBTB48 gene

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

UniProtKB/Swiss-Prot: ZBT48_HUMAN, P10074

Function: Binds to and regulates the J and/or S elements in MHC II promoter

(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

Entrez Gene cytogenetic band: 1p36.3 Ensembl cytogenetic band: 1p36.31 HGNC cytogenetic band: 1p36.3

ZBTB48 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 1 GeneLoc Exon Structure

GeneLoc location for GC01P006562: (about GC identifiers)

Start:	6,562,643 bp from pter
End:	6,571,926 bp from pter
Size:	9,284 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000001.9 NT_021937.18

(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: ZBT48_HUMAN, P10074 (See protein sequence)

Recommended Name: Zinc finger and BTB domain-containing protein 48

Size: 688 amino acids; 77054 Da

Subcellular location: Nucleus

PDB structures from and Proteopedia :

3B84 (3D)

Secondary accessions: Q5SY19

REFSEQ proteins: NP_005332.1

ENSEMBL proteins:

ENSP00000313416 ENSP00000366902

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
	Recombinant Proteins from Abcam (ZBTB48)
	Human Recombinant Proteins from Abnova (HKR3)

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

2 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005622	intracellular	IEA	--
GO:0005634	nucleus	IEA	--

About this table

Antibodies for ZBTB48:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Sigma-Aldrich Antibodies for ZBTB48
	Browse R&D Systems for Antibodies
	Antibodies from Abcam (ZBTB48), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (HKR3)
	Novus Biologicals Antibody for ZBTB48

Assays for ZBTB48:

	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)
About This Section

Graphical View of Domain Structure for InterPro Entry P10074

ProtoNet protein and cluster: P10074

2 Blocks protein families:

IPB000210 BTB/POZ domain

IPB007086 C2H2-type zinc finger signature

UniProtKB/Swiss-Prot: ZBT48_HUMAN, P10074

Similarity: Belongs to the krueppel C2H2-type zinc-finger protein family

Similarity: Contains 1 BTB (POZ) domain

Similarity: Contains 11 C2H2-type zinc fingers

(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.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (ZBTB48)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (HKR3)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_005341

Applied Biosystems Silencer® siRNAs for ZBTB48

Sigma-Aldrich siRNA and siRNA Panels for ZBTB48

Sigma-Aldrich shRNA for ZBTB48

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for ZBTB48
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clone in CMV expression vector: NM_005341
Myc/DDK tagged cDNA clone in CMV expression vector: NM_005341
untagged cDNA clones in CMV expression vector (see all 3): AF318381

Primers:

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

OriGene genome-wide validated SYBR primer pairs: NM_005341

UniProtKB/Swiss-Prot: ZBT48_HUMAN, P10074

Function: Binds to and regulates the J and/or S elements in MHC II promoter

4 Gene Ontology (GO) molecular function terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003700	transcription factor activity	TAS	8661141
GO:0005515	protein binding	IEA	--
GO:0008270	zinc ion binding	IEA	--
GO:0046872	metal ion 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 Gene Ontology (GO) biological process terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006350	transcription	IEA	--
GO:0006355	regulation of transcription, DNA-dependent	IEA	--

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 ZBTB48

(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 (ZBTB48)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (HKR3)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_005341

Sigma-Aldrich siRNA and siRNA Panels for ZBTB48

Sigma-Aldrich shRNA for ZBTB48

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_005341

REFSEQ mRNAs for ZBTB48 gene:

NM_005341.2

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_005341

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_005341
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_005341
                                 untagged cDNA clones in CMV expression vector (see all 3): AF318381

Additional cDNA sequence:

AF318381.1 AK290156.1 AK312786.1 BC013573.2 BX648395.1 L16896.1

7 DOTS entries:

DT.110889 DT.91730977 DT.97838797 DT.95257583 DT.97791447 DT.100724975 DT.91730964

24/89 AceView cDNA sequences (see all 89 ):

T29307 CA306809 AW014834 BX648395 BF033273 BG749003 NM_005341 BC013573

BX336991 AI656996 CD358885 CA748466 AJ711358 BX487258 AI369007 AL043234

AW467456 BF109939 BM827114 CA311932 BM854395 AI741648 AL531725 AI800908

highest scoring ESTs for ZBTB48:

L16896 AA654247 AA720993 AA765826 AI275485 AI369007 AI458757 AI498175 AI498335 AI624161

Unigene Cluster for ZBTB48:

Zinc finger and BTB domain containing 48

Hs.502330 [show with all ESTs]

Unigene Representative Sequence: BX648395

GeneLoc Exon Structure

2 Ensembl transcripts including schematic representations:

ENST00000319084 ENST00000377674

(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

ZBTB48 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for ZBTB48

¹ / ² / ³

3 probe-sets matching ZBTB48 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
39261_at²^{, 3}	U95-A	1	1.00	1.00	1.00	1.00	L16896	1.00	1.00	1.00	1
205025_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_005341	0.60	1.00	0.82	1
205025_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks ZBTB48 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: GAGATCCACG

SOURCE GeneReport for Unigene cluster: Hs.502330
UniProtKB/Swiss-Prot: ZBT48_HUMAN, P10074
Tissue specificity: Detected in adrenal gland and neuroblastoma

(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 ZBTB48 gene from 5/8 species (see all 8 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	ZBTB48¹	--	zinc finger and BTB domain containing 48	89.87(n) 93.75(a)	608070 XM_844963.1 XP_850056.1
chimpanzee (Pan troglodytes)	ZBTB48¹	--	zinc finger and BTB domain containing 48	99.66(n) 99.85(a)	457899 XM_514341.2 XP_514341.2
cow (Bos taurus)	ZBTB48¹	--	zinc finger and BTB domain containing 48	87.4(n) 89.97(a)	534608 XM_864814.2 XP_869907.2
rat (Rattus norvegicus)	Hkr3¹	--	GLI-Kruppel family member HKR3	87.37(n) 91.34(a)	362668 XM_001075474.1 XP_001075474.1
mouse (Mus musculus)	Zbtb48^{1, 5}	4⁵	zinc finger and BTB domain containing 48^{1, 5}	87.42(n)¹ 91.78(a)¹	100090¹ NM_133879.2¹ NP_598640.2¹ AI327031⁵ AK027912⁵ (see all 10)

About this table Species with no ortholog for ZBTB48

ENSEMBL Gene Tree for ZBTB48

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

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

10/45 NCBI SNPs in ZBTB48 are shown (see all 45 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 38)

AB	SNP ID	Valid	Chr 1 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
--	rs17029628^1,2	F,H	6571864(+)	`GCCCAT/CTCTGG`	1	--	ut3¹ ese³		7		NA EU EA WA	540
	rs2229330^1,2	F,H	6571815(+)	`AGCCCT/GCCCTC`	1	A/S	mis¹		5		MN EU EA WA	460
	rs2229329^1,2	F	6563248(+)	`CTGCCC/TTCCAG`	1	--	ut5¹ ese³		1		MN	28
	rs6665147^1,2	H	6572203(+)	`ACCAGT/CATTCC`	1	--	ng3¹		4		EU EA WA	412
	rs731024^1,2	A,C,F,H,O	6567310(+)	`TTCAAA/GTACTC`	1	--	int¹		19		EA NA EU WA	1494
	rs6682920^1,2	A,C,F,H	6568454(+)	`CAGCCA/GGTGTC`	1	--	int¹		12		EA NA EU WA	1008
	rs3747995^1,2	C,H	6569502(-)	`CCCACG/ATAAAG`	1	--	int¹ ese³		4		EU EA WA	416
	rs11811658^1,2	F,H	6564345(+)	`AGACAA/GTCTCT`	1	--	int¹		4		EU EA WA	416
	rs11587737^1,2	H	6567866(+)	`atctgG/Cgcaga`	1	--	int¹		4		EU EA WA	416
--	rs6697222^1,2	A	6568490(+)	`AAGGGA/TCCCAG`	1	--	int¹		0	--	--	--	--

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HapMap Linkage Disequilibrium images for ZBTB48 (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

OMIM: 165270

(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

9 PubMed articles for ZBTB48 gene:

The GLI-Kruppel family of human genes. (PubMed id 2850480)^{2, 3, 4} Ruppert J.M.... Vogelstein B. (1988)
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)
Human Kruppel-related 3 (HKR3): a candidate for the 1p36 neuroblastoma tumour suppressor gene? (PubMed id 9516840)^{3, 4} Maris J.M.... White P.S. (1997)
Cloning, chromosomal localization, physical mapping, and genomic characterization of HKR3. (PubMed id 8661141)^{2, 3} Maris J.M....White P.S. (1996)
A factor that regulates the class II major histocompatibility complex gene DPA is a member of a subfamily of zinc finger proteins that includes a Drosophila developmental control protein. (PubMed id 7969177)^{3, 4} Sugawara M.... Strominger J.L. (1994)
The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)⁴ Gregory S.G.... Bentley D.R. (2006)
Towards a proteome-scale map of the human protein-protein interaction network. (PubMed id 16189514)³ Rual J.F....Vidal M. (2005)
Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. (PubMed id 15342556)³ Suzuki Y.... Sugano S. (2004)
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)
About This Section

Entrez Gene: 3104	HGNC: 4930	AceView: HKR3	Ensembl:ENSG00000204859	euGenes: HUgn3104
ECgene: ZBTB48	H-InvDB: ZBTB48

(According to HUGE)
About This Section

(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Licensable Technologies for ZBTB48
(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 ZBTB48:

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 ZBTB48-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 ZBTB48		Antibodies for ZBTB48
	Explore super-pooled esiRNAs		Browse proteins at Sigma-Aldrich
	Lentivirus-delivered shRNAs for ZBTB48		Browse small molecules at Sigma-Aldrich
	"Your Favorite Gene" Pathways		feedback

	Antibodies		Primer Pairs
	Cell Culture Products		ELISAs
	Flow Cytometry Kits		Protease Activity Assays & Reagents
	Cell Selection/Detection Kits & Reagents		ELISA/Assay Development Kits & Reagents
	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
	Recombinant & Natural Proteins

	Recombinant Proteins (HKR3)
	Antibodies (HKR3)
	Chimera RNAi (HKR3)
	Custom Service for Mouse Mab
	Custom Service for Rabbit Pab from Full-length Protein

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ZBTB48 Gene

protein-coding GIFtS: 44

Aliases &
Descriptions
for ZBTB48

Summaries
for ZBTB48

Genomic Location
for ZBTB48

Proteins
for ZBTB48

Protein Domains/
Families
for ZBTB48

Gene Function
for ZBTB48

Pathways & Interactions
for ZBTB48

Drugs & Compounds
for ZBTB48

Transcripts
for ZBTB48

Expression
for ZBTB48

Orthologs
for ZBTB48

Paralogs
for ZBTB48

SNPs/Variants
for ZBTB48

Disorders & Mutations
for ZBTB48

Medical News
for ZBTB48

Publications
for ZBTB48

Search for ZBTB48

Genome Databases showing ZBTB48

Other Databases showing ZBTB48

Specialized Databases showing ZBTB48

Licensable Technologies
for ZBTB48

Services
for ZBTB48

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

ZBTB48 Gene

protein-coding GIFtS: 44

Aliases & Descriptionsfor ZBTB48

Summariesfor ZBTB48

Genomic Locationfor ZBTB48

Proteinsfor ZBTB48

Protein Domains/Familiesfor ZBTB48

Gene Functionfor ZBTB48

Pathways & Interactionsfor ZBTB48

Drugs & Compoundsfor ZBTB48

Transcriptsfor ZBTB48

Expression for ZBTB48

Orthologsfor ZBTB48

Paralogsfor ZBTB48

SNPs/Variantsfor ZBTB48

Disorders & Mutationsfor ZBTB48

Medical Newsfor ZBTB48

Publicationsfor ZBTB48

Search for ZBTB48

Genome Databases showing ZBTB48

Other Databases showing ZBTB48

Specialized Databases showing ZBTB48

Licensable Technologiesfor ZBTB48

Servicesfor ZBTB48

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 ZBTB48

Summaries
for ZBTB48

Genomic Location
for ZBTB48

Proteins
for ZBTB48

Protein Domains/
Families
for ZBTB48

Gene Function
for ZBTB48

Pathways & Interactions
for ZBTB48

Drugs & Compounds
for ZBTB48

Transcripts
for ZBTB48

Expression
for ZBTB48

Orthologs
for ZBTB48

Paralogs
for ZBTB48

SNPs/Variants
for ZBTB48

Disorders & Mutations
for ZBTB48

Medical News
for ZBTB48

Publications
for ZBTB48

Licensable Technologies
for ZBTB48

Services
for ZBTB48