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ZBTB12 Gene

protein-coding GIFtS: 44
GCID: GC06M031868

Zinc Finger And BTB Domain Containing 12

(Previous name: chromosome 6 open reading frame 46)
(Previous symbol: C6orf46)

See related diseases
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Aliases
Zinc Finger And BTB Domain Containing 12¹ ²		Bat9²
C6orf46¹ ² ³		D6S59E²
G10² ³		HLA-B-Associated Transcript 9²
NG35² ³		Zinc Finger And BTB Domain-Containing Protein 12²
Chromosome 6 Open Reading Frame 46¹		Protein G10³

External Ids:	HGNC: 19066¹	Entrez Gene: 221527²	Ensembl: ENSG00000204366⁷	UniProtKB: Q9Y330³

Export aliases for ZBTB12 gene to outside databases

Previous GC identifers: GC06M031972 GC06M031975 GC06M031653

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for ZBTB12 Gene:

ZBTB12 (zinc finger and BTB domain containing 12) is a protein-coding gene. Diseases associated with ZBTB12 include hepatitis b, and hepatitis. An important paralog of this gene is ZBTB34.

UniProtKB/Swiss-Prot: ZBT12_HUMAN, Q9Y330

Function: May be involved in transcriptional regulation

(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:

NC_000006.12 NC_018917.2 NT_007592.16 NT_113891.3 NT_167245.2 NT_167247.2 NT_167248.2

Regulatory elements:

Regulatory transcription factor binding sites in the ZBTB12 gene promoter:
AREB6 C/EBPbeta AP-1 ATF-2 MyoD c-Jun IRF-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ZBTB12 promoter sequence

Search Chromatin IP Primers for ZBTB12

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ZBTB12

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

Entrez Gene cytogenetic band: 6p21.33 Ensembl cytogenetic band: 6p21.33 HGNC cytogenetic band: 6p21.31

ZBTB12 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ZBTB12 gene location

GeneLoc information about chromosome 6 GeneLoc Exon Structure

GeneLoc location for GC06M031868: view genomic region (about GC identifiers)

Start:	31,867,384 bp from pter	End:	31,869,769 bp from pter
Size:	2,386 bases	Orientation:	minus strand

4 alternative locations:

Chr6-,NT_167245 3,152,976-3,155,351	Chr6-,NT_113891.2 3,377,148-3,379,523	Chr6-,NT_167248 3,161,186-3,163,563
Chr6-,NT_167247 3,247,277-3,249,652

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
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UniProtKB/Swiss-Prot: ZBT12_HUMAN, Q9Y330 (See protein sequence)

Recommended Name: Zinc finger and BTB domain-containing protein 12

Size: 459 amino acids; 49148 Da

Secondary accessions: B0UY00 Q5JQ98

Explore the universe of human proteins at neXtProt for ZBTB12: NX_Q9Y330

Explore proteomics data for ZBTB12 at MOPED

See ZBTB12 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_862825.1

ENSEMBL proteins:

ENSP00000364677

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:

BTBD: BTB/POZ domain containing

ZNF: Zinc fingers, C2H2-type

Selected InterPro protein domains (see all 6):

IPR000210 BTB/POZ-like

IPR015880 Znf_C2H2-like

IPR011333 BTB/POZ_fold

IPR013087 Znf_C2H2/integrase_DNA-bd

IPR013069 BTB_POZ

Graphical View of Domain Structure for InterPro Entry Q9Y330

ProtoNet protein and cluster: Q9Y330

1 Blocks protein domain: IPB000210 BTB/POZ domain

UniProtKB/Swiss-Prot: ZBT12_HUMAN, Q9Y330

Similarity: Contains 1 BTB (POZ) domain

Similarity: Contains 4 C2H2-type zinc fingers

ZBTB12 for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

UniProtKB/Swiss-Prot Summary: ZBT12_HUMAN, Q9Y330

Function: May be involved in transcriptional regulation

Gene Ontology (GO): 3 molecular function terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003677	DNA binding	IEA	--
GO:0005515	protein binding	--	--
GO:0046872	metal ion binding	IEA	--

ZBTB12 for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for ZBTB12:

Increased cell number in G2M,

Animal Models:

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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot

ZBT12_HUMAN, Q9Y330: Nucleus (Potential)

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
nucleus	3
cytosol	1

About this image

Gene Ontology (GO): 1 cellular component term: About this table

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

ZBTB12 for ontologies About GeneDecksing

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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Custom Pathway & Disease-focused RT² Profiler PCR Arrays for ZBTB12
Interactions:

Search GeneGlobe Interaction Network for ZBTB12

STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

3 Interacting proteins for ZBTB12 (Q9Y330³ ENSP00000364677⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
HRAS	P01112³, ENSP00000309845⁴	I2D: score=1 STRING: ENSP00000309845
RAP1GAP	ENSP00000363897⁴	STRING: ENSP00000363897
--	Q7Z5S8³	I2D: score=1

About this table

Gene Ontology (GO): 2 biological process terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006351	transcription, DNA-templated	IEA	--
GO:0006355	regulation of transcription, DNA-templated	IEA	--

ZBTB12 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

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(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for ZBTB12 gene:

NM_181842.2

Unigene Cluster for ZBTB12:

Zinc finger and BTB domain containing 12

Hs.234027 [show with all ESTs]

Unigene Representative Sequence: BC043609

1 Ensembl transcript including schematic representation, and UCSC links where relevant:

ENST00000375527(uc003nyd.1)

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Additional mRNA sequence: BC043609.1

2 DOTS entries:

DT.92031606 DT.75111599

4 AceView cDNA sequences:

BC043609 BM926596 NM_181842 BF812094

GeneLoc Exon Structure

(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™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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ZBTB12 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: TATATGTGGA

About this image

ZBTB12 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

ZBTB12 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.234027

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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)
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This gene was present in the common ancestor of chordates.

Orthologs for ZBTB12 gene from Selected species (see all 12) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Zbtb12^{1 , 5}	zinc finger and BTB domain containing 12^{1, 5}	89.47(n)¹ 97.39(a)¹		17 (18.43 cM)⁵ 193736¹ NM_198886.3¹ NP_942589.3¹ 34879483⁵
lizard (Anolis carolinensis)	Reptilia	ZBTB12⁶	zinc finger and BTB domain containing 12	66(a)	1 ↔ 1	2(194374020-194379051)
African clawed frog (Xenopus laevis)	Amphibia	Xl.10817²	Xenopus laevis transcribed sequence with weak similarity to protein refNP_065975.1 (H.sapiens) bioref [Homo sapiens] less	74.42(n)		CA789158.1
zebrafish (Danio rerio)	Actinopterygii	Dr.14513²	Transcribed sequence with weak similarity to protein refNP_065975.1 (H.sapiens) bioref [Homo sapiens] less	76.64(n)		BI839714.1

ENSEMBL Gene Tree for ZBTB12 (if available)
TreeFam Gene Tree for ZBTB12 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for ZBTB12 gene

ZBTB34² ZBTB22² NACC1² ZBTB45² ZBTB6² ZBTB9² NACC2² ZBTB26²

ZBTB43² ZBTB37² ZBTB20²

2 SIMAP similar genes for ZBTB12 using alignment to 1 protein entry: ZBT12_HUMAN:

ZBTB26 ZBTB6

ZBTB12 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Structural Variations
Database of Genomic Variants (DGV) Selected variations for ZBTB12 (see all 14): About this table

Variant ID	Type	Subtype	PubMed ID
nsv509126	CNV	Insertion	20534489
dgv6583n71	CNV	Loss	21882294
dgv6598n71	CNV	Loss	21882294
dgv6595n71	CNV	Loss	21882294
dgv6597n71	CNV	Loss	21882294
dgv6596n71	CNV	Loss	21882294
nsv884472	CNV	Loss	21882294
nsv508399	CNV	Loss	20534489
dgv6600n71	CNV	Loss	21882294
nsv884486	CNV	Loss	21882294

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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6 diseases for ZBTB12:
About MalaCards

hepatitis b hepatitis systemic lupus erythematosus lupus erythematosus

multiple sclerosis hepatocellular carcinoma

ZBTB12 for disorders About GeneDecksing

Genetic Association Database (GAD): ZBTB12
Human Genome Epidemiology (HuGE) Navigator: ZBTB12 (2 documents)

Export disorders for ZBTB12 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)
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PubMed articles for ZBTB12 gene, integrated from 10 sources (see all 14):
(articles sorted by number of sources associating them with ZBTB12)

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

A genome-wide association study of hepatitis B vaccine response in an Indonesian population reveals multiple independent risk variants in the HLA region. (PubMed id 21764829)^{1, 4} Png E....Seielstad M. (Hum. Mol. Genet. 2011)
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. (Genome Res. 2004)
The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)^{1, 2} Mungall A.J.... Beck S. (Nature 2003)
Analysis of the gene-dense major histocompatibility complex class III region and its comparison to mouse. (PubMed id 14656967)^{1, 2} Xie T.... Hood L. (Genome Res. 2003)
TAPASIN, DAXX, RGL2, HKE2 and four new genes (BING 1, 3 to 5) form a dense cluster at the centromeric end of the MHC. (PubMed id 9545376)^{1, 3} Herberg J.A.... Trowsdale J. (J. Mol. Biol. 1998)
GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children. (PubMed id 23263863)¹ Li J....Sleiman P.M. (Hum. Mol. Genet. 2013)
Association of MHC class-III gene polymorphisms with ER-positive breast cancer in Chinese Han population. (PubMed id 23079975)¹ Pan Q....Wang J.X. (Genet. Mol. Res. 2012)
The genetic architecture of economic and political preferences. (PubMed id 22566634)¹ Benjamin D.J....Visscher P.M. (Proc. Natl. Acad. Sci. U.S.A. 2012)
Genetic variations at loci involved in the immune response are risk factors for hepatocellular carcinoma. (PubMed id 21105107)⁴ Clifford R.J....Buetow K.H. (Hepatology 2010)
Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX. (PubMed id 18204098)⁴ Hom G....Behrens T.W. (N. Engl. J. Med. 2008)

(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, Kegg, and/or H-InvDB)
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Entrez Gene: 221527	HGNC: 19066	AceView: ZBTB12	Ensembl:ENSG00000204366	euGenes: HUgn221527
ECgene: ZBTB12	H-InvDB: ZBTB12

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for ZBTB12	Pharmacogenomics, SNPs, Pathways

Intellectual Property for ZBTB12 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for ZBTB12 gene:
Search GeneIP for patents involving ZBTB12

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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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Hot genes Disease genes ZBTB12 gene at Home site.

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ZBTB12 Gene

Zinc Finger And BTB Domain Containing 12

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ZBTB12 Gene

Zinc Finger And BTB Domain Containing 12

Aliasesfor ZBTB12 gene

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ZBTB12 Human Recombinant Protein Products:

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