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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ABTB2 Gene

protein-coding GIFtS: 45
GCID: GC11M034129

ankyrin repeat and BTB (POZ) domain containing 2

Search for ABTB2
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
Ankyrin Repeat And BTB (POZ) Domain Containing 2¹ ²
BTBD22¹ ²
DKFZP586C1619¹
Ankyrin Repeat And BTB/POZ Domain-Containing Protein 2²

External Ids:	HGNC: 23842¹	Entrez Gene: 25841²	Ensembl: ENSG00000166016⁷	UniProtKB: Q8N961³

Export aliases for ABTB2 gene to outside databases

Previous GC identifers: GC11M034136 GC11M033869

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

UniProtKB/Swiss-Prot: ABTB2_HUMAN, Q8N961

Function: May be involved in the initiation of hepatocyte growth (By similarity)

(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_000011.9 NC_018922.1 NT_009237.18

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the ABTB2 gene promoter:
HFH-3 RP58 p53 MAZR Egr-1 CUTL1 E47 FOXI1 PPAR-alpha RSRFC4
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ABTB2 promoter sequence

Search SABiosciences Chromatin IP Primers for ABTB2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ABTB2

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

Entrez Gene cytogenetic band: 11p13 Ensembl cytogenetic band: 11p13 HGNC cytogenetic band: 11p13

ABTB2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ABTB2 gene location

GeneLoc information about chromosome 11 GeneLoc Exon Structure

GeneLoc location for GC11M034129: view genomic region (about GC identifiers)

Start:	34,172,534 bp from pter	End:	34,379,555 bp from pter
Size:	207,022 bases	Orientation:	minus 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: ABTB2_HUMAN, Q8N961 (See protein sequence)

Recommended Name: Ankyrin repeat and BTB/POZ domain-containing protein 2

Size: 839 amino acids; 93290 Da

Sequence caution: Sequence=BAC03697.1; Type=Erroneous initiation; Sequence=BAF84433.1; Type=Erroneous initiation;

Note=Translation N-terminally extended;

Secondary accessions: A8K6S9 E9PRW7 Q52LD6 Q6MZW4 Q8NB44

Alternative splicing: 2 isoforms: Q8N961-1 Q8N961-2 (No experimental confirmation available. Ref.1 (BAF84433) sequence is in conflict in position: 101:E->Missing)

Explore the universe of human proteins at neXtProt for ABTB2: NX_Q8N961

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q8N961

ABTB2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_665803.2

ENSEMBL proteins:

ENSP00000410157 ENSP00000298992

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Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005575	cellular_component	ND	--

ABTB2 for ontologies About GeneDecksing

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

ABTB2 for domains About GeneDecksing

5/6 InterPro domains/families (see all 6):

IPR011333 BTB/POZ_fold

IPR013069 BTB_POZ

IPR020683 Ankyrin_rpt-contain_dom

IPR009072 Histone-fold

IPR000210 BTB/POZ-like

Graphical View of Domain Structure for InterPro Entry Q8N961

ProtoNet protein and cluster: Q8N961

2 Blocks protein families:

IPB002110 Ankyrin repeat signature

IPB002119 Histone H2A

UniProtKB/Swiss-Prot: ABTB2_HUMAN, Q8N961

Similarity: Contains 4 ANK repeats

Similarity: Contains 1 BTB (POZ) domain

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

Function Summary:

UniProtKB/Swiss-Prot: ABTB2_HUMAN, Q8N961

Function: May be involved in the initiation of hepatocyte growth (By similarity)

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABTB2

Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003674	molecular_function	ND	--
GO:0003677	DNA binding	--	--
GO:0046982	protein heterodimerization activity	IEA	--

ABTB2 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for ABTB2:

Decreased number of cells in m

(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 ABTB2

STRING Interaction Network Preview (showing 5 interactants - click image to see more details)

5 Interacting proteins for ABTB2 (ENSP00000298992⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CUL3	ENSP00000264414⁴	STRING: ENSP00000264414
UBC	ENSP00000344818⁴	STRING: ENSP00000344818
EEF1A1	ENSP00000330054⁴	STRING: ENSP00000330054
DNTT	ENSP00000360216⁴	STRING: ENSP00000360216
RBX1	ENSP00000216225⁴	STRING: ENSP00000216225

About this table

Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001558	regulation of cell growth	NAS	--

ABTB2 for ontologies About GeneDecksing

(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

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(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,
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About This Section

REFSEQ mRNAs for ABTB2 gene:

NM_145804.2

Unigene Cluster for ABTB2:

Ankyrin repeat and BTB (POZ) domain containing 2

Hs.23361 [show with all ESTs]

Unigene Representative Sequence: NM_145804

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

ENST00000435224(uc001mvl.2) ENST00000530814 ENST00000298992

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		hsa-miR-549 hsa-miR-15a hsa-miR-485-3p hsa-let-7a-2* hsa-miR-424 hsa-miR-15b hsa-miR-181b hsa-miR-3163

		SwitchGear 3'UTR luciferase reporter plasmid: ABTB2 3' UTR sequence

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Additional cDNA sequence:

AK056863.1 AK091560.1 AK095632.1 AK291744.1 AL050374.1 BC093968.1 BX640841.1

4 DOTS entries:

DT.311982 DT.70102961 DT.40120665 DT.95172204

24/83 AceView cDNA sequences (see all 83):

NM_145804 AI498859 CD637421 BM825763 BU501329 BF337773 AK095632 AX747060

CD676008 BQ924307 BQ649901 BQ927066 BU732181 CD637416 BM798959 BU194092

BQ921275 CB216694 BQ688711 CB528358 BX640841 BE328500 AK091560 AI369718

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™, 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

ABTB2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GAGGGGCAAG

About this image
See ABTB2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ABTB2

SOURCE GeneReport for Unigene cluster: Hs.23361

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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 eukaryotes.

Orthologs for ABTB2 gene from 6/19 species (see all 19) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	ABTB2¹	ankyrin repeat and BTB (POZ) domain containing 2	78.4(n) 87.51(a)		425717 XM_423445.3 XP_423445.3
lizard (Anolis carolinensis)	Reptilia	ABTB2⁶	--	86(a)	1 ↔ 1	GL343283.1(1213564-1275087)
zebrafish (Danio rerio)	Actinopterygii	LOC100007078¹	uncharacterized LOC100007078	68.24(n) 71.79(a)		100007078 XM_001923151.2 XP_001923186.1
fruit fly (Drosophila melanogaster)	Insecta	CG33291¹	CG33291	53.88(n) 42(a)		2768995 NM_206420.1 NP_996142.1
thale cress (Arabidopsis thaliana)	eudicotyledons	ARIA⁶ ABAP1⁶	ARMADILLO BTB protein 1	19(a) 18(a)	many ↔ many many ↔ many	5(6507794-6512759) 5(4142958-4147091)
rice (Oryza sativa)	Liliopsida	--	ABTB1 - Armadillo repeats with a Bric-a-Brac, Tram...	18(a)	1 → many	5(19305972-19315030)

ENSEMBL Gene Tree for ABTB2 (if available)
TreeFam Gene Tree for ABTB2 (if available)

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

Paralogs for ABTB2 gene

BTBD11²

1 SIMAP similar gene for ABTB2 using alignment to 1 protein entry: ABTB2_HUMAN:

BTBD11

ABTB2 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 11 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs74498953^1,2	F,	--	34172233(+)	`TGGGAG/ATGGAG`	1	--	int¹		1		EA	120
rs3763971^1,2	C,F,H,	--	34172381(+)	`GCTGGG/CTGGCC`	1	--	int¹		7		EA NS NA	2006
rs148066538^1,2	C,	--	34172427(+)	`GGGGG-/AAGACC`	1	--	int¹		0	--	--	--	--
rs73500485^1,2	C,	--	34172443(+)	`AACAGC/TGTTAG`	1	--	int¹		1		WA	2
rs144358600^1,2	C,	--	34172536(+)	`GGTCA-/TTGTTGTT`	1	--	ut3¹		0	--	--	--	--
rs143534145^1,2		--	34172610(+)	`GTTAAA/GGTATC`	1	--	ut3¹		0	--	--	--	--
rs150560204^1,2		--	34172646(+)	`TGCCTA/GTTTCT`	1	--	ut3¹		0	--	--	--	--
rs74580222^1,2		--	34172657(+)	`TTGTAC/TATCCA`	1	--	ut3¹		1		WA	118
rs190319932^1,2		--	34172668(+)	`GCCAAA/GCAGCT`	1	--	ut3¹		0	--	--	--	--
rs115924384^1,2	C,	--	34172746(+)	`GAAATA/GCCTGG`	1	--	ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for ABTB2 (34172534 - 34379555 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 13 variations for ABTB2
12 CNVs: 48790 2916 10352 10353 48791 38229 58513 31813 65915 48792 71305 71304
1 Indel: 71306

SABiosciences Cancer Mutation PCR Assays

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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

ABTB2 for disorders About MalaCards

ABTB2 for disorders About GeneDecksing

Human Genome Epidemiology (HuGE) Navigator: ABTB2 (1 document)

Export disorders for ABTB2 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 ABTB2 gene integrated from 9 sources:
(articles sorted by number of sources associating them with ABTB2)

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

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)
Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)¹ Kim W....Gygi S.P. (2011)
Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)¹ Rose J.E....Uhl G.R. (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)
Bood POZ containing gene type 2 is a human counterpart of yeast Btb3p and promotes the degradation of terminal deoxynucleotidyltransferase. (PubMed id 18429817)¹ Maezawa S....Koiwai O. (2008)
BPOZ-2 directly binds to eEF1A1 to promote eEF1A1 ubiquitylation and degradation and prevent translation. (PubMed id 18459963)¹ Koiwai K....Koiwai O. (2008)
The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)² Bechtel S.... Schupp I. (2007)
Human chromosome 11 DNA sequence and analysis including novel gene identification. (PubMed id 16554811)² Taylor T.D....Sakaki Y. (2006)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)¹ Strausberg R.L....Marra M.A. (2002)

(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: 25841	HGNC: 23842	AceView: ABTB2	Ensembl:ENSG00000166016	euGenes: HUgn25841
ECgene: ABTB2	H-InvDB: ABTB2

(According to HUGE)
About This Section

(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 ABTB2	Pharmacogenomics, SNPs, Pathways

Intellectual Property for ABTB2 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for ABTB2 gene:
Search GeneIP for patents involving ABTB2

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, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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About This Section


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	Browse OriGene Antibodies		Browse OriGene shRNA RFPs
	OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ABTB2		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ABTB2
	OriGene Protein Over-expression Lysate for ABTB2		Browse OriGene Fluorogenic Cell Assay Kits
	OriGene siRNA for ABTB2		OriGene 3'-UTR Clone for ABTB2
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	Browse OriGene GFP tagged cDNA clones in CMV expression vector		Browse OriGene MicroRNA Expression Plasmids
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	OriGene Custom Antibody Services for ABTB2		OriGene Custom Protein Services for ABTB2
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	QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat ABTB2
	Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ABTB2
	QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ABTB2
	QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ABTB2
	QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ABTB2
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	GenScript Custom Purified and Recombinant Proteins Services for ABTB2		GenScript cDNA clones with any tag delivered in your preferred vector for ABTB2
	GenScript Custom Assay Services for ABTB2		GenScript Custom Superior Antibodies Services for ABTB2
	GenScript Custom overexpressing Cell Line Services for ABTB2		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 ABTB2

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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ABTB2

GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 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 ABTB2 gene at Home site.

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ABTB2 Gene

ankyrin repeat and BTB (POZ) domain containing 2

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ABTB2 Gene

ankyrin repeat and BTB (POZ) domain containing 2

Aliasesfor ABTB2 gene

Summariesfor ABTB2 gene

Genomic Viewsfor ABTB2 gene

Proteinsfor ABTB2 gene

Protein Domains /Familiesfor ABTB2 gene

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for ABTB2 gene

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