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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

BTBD9 Gene

protein-coding GIFtS: 53
GCID: GC06M038136

BTB (POZ) domain containing 9

Explore 5 diseases affiliated with
BTBD9 via

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
BTB (POZ) Domain Containing 9¹ ²
KIAA1880¹ ³ ⁵
DJ322I12.1¹
BTB/POZ Domain-Containing Protein 9²

External Ids:	HGNC: 21228¹	Entrez Gene: 114781²	Ensembl: ENSG00000183826⁷	OMIM: 611237⁵	UniProtKB: Q96Q07³

Export aliases for BTBD9 gene to outside databases

Previous GC identifers: GC06M038140 GC06M038189 GC06M038250 GC06M037854

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

Entrez Gene summary for BTBD9:

This locus encodes a BTB/POZ domain-containing protein. This domain is known to be involved in protein-protein

interactions. Polymorphisms at this locus have been reported to be associated with susceptibility to Restless Legs

Syndrome and may also be associated with Tourette Syndrome. Alternatively spliced transcript variants have been

described. (provided by RefSeq, Aug 2011)

(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_000006.11 NC_018917.1 NT_007592.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the BTBD9 gene promoter:
Evi-1 PPAR-gamma1 POU2F1 POU2F1a POU2F1b PPAR-gamma2 POU2F1c RSRFC4
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): BTBD9 promoter sequence

Search SABiosciences Chromatin IP Primers for BTBD9

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BTBD9

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

Entrez Gene cytogenetic band: 6p21 Ensembl cytogenetic band: 6p21.2 HGNC cytogenetic band: 6p21

BTBD9 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BTBD9 gene location

GeneLoc information about chromosome 6 GeneLoc Exon Structure

GeneLoc location for GC06M038136: view genomic region (about GC identifiers)

Start:	38,136,227 bp from pter	End:	38,607,924 bp from pter
Size:	471,698 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: BTBD9_HUMAN, Q96Q07 (See protein sequence)

Recommended Name: BTB/POZ domain-containing protein 9

Size: 612 amino acids; 69188 Da

Sequence caution: Sequence=BAB67773.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

Secondary accessions: Q494V9 Q494W1 Q96M00

Alternative splicing: 3 isoforms: Q96Q07-1 Q96Q07-2 Q96Q07-3 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for BTBD9: NX_Q96Q07

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q96Q07

BTBD9 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (4 alternative transcripts):

NP_001092742.1 NP_001165889.1 NP_443125.1 NP_689946.2

ENSEMBL proteins:

ENSP00000323408 ENSP00000418751 ENSP00000328328 ENSP00000415365 ENSP00000418201

ENSP00000419382 ENSP00000386121 ENSP00000386211

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	Uscn Proteins for BTBD9

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	Uscn ELISAs and CLIAs for BTBD9

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

BTBD9 for domains About GeneDecksing

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

IPR011333 BTB/POZ_fold

IPR000421 Coagulation_fac_5/8-C_type_dom

IPR013069 BTB_POZ

IPR011705 BACK

IPR000210 BTB/POZ-like

Graphical View of Domain Structure for InterPro Entry Q96Q07

ProtoNet protein and cluster: Q96Q07

3 Blocks protein families:

IPB000210 BTB/POZ domain

IPB000421 Coagulation factor 5/8 type C domain (FA58C)

IPB011705 BTB/Kelch-associated

UniProtKB/Swiss-Prot: BTBD9_HUMAN, Q96Q07

Similarity: Contains 1 BACK (BTB/Kelch associated) domain

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, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Phenotypes:
1 GenomeRNAi human phenotype for BTBD9:

Synthetic lethal with Ras

3 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Btbd9):

behavior/neurological

homeostasis/metabolism

nervous system

BTBD9 for phenotypes About GeneDecksing

Animal Models:

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for BTBD9

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		8/92 QIAGEN miScript miRNA Assays for microRNAs that regulate BTBD9 (see all 92):
		hsa-miR-124* hsa-miR-549 hsa-miR-579 hsa-miR-4254 hsa-miR-1321 hsa-miR-520e hsa-miR-374a hsa-miR-138-2*

		Browse SwitchGear 3'UTR luciferase reporter plasmids

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BTBD9

(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:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for BTBD9

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

5/6 Interacting proteins for BTBD9 (Q96Q07³ ENSP00000386121⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 6)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
COPS6	Q7L5N1³, ENSP00000304102⁴	I2D: score=2 STRING: ENSP00000304102
USP25	Q9UHP3³, ENSP00000285679⁴	I2D: score=2 STRING: ENSP00000285679
FBXO11	Q86XK2³, ENSP00000323822⁴	I2D: score=5 STRING: ENSP00000323822
GALNT2	Q10471³	I2D: score=4
USP21	ENSP00000289865⁴	STRING: ENSP00000289865

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:0007155	cell adhesion	IEA	--

BTBD9 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

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for BTBD9
Search CenterWatch for drugs/clinical trials and news about BTBD9

(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,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for BTBD9 gene (4 alternative transcripts):

NM_001099272.1 NM_001172418.1 NM_052893.1 NM_152733.2

Unigene Cluster for BTBD9:

BTB (POZ) domain containing 9

Hs.603858 [show with all ESTs]

Unigene Representative Sequence: NM_052893

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

ENST00000314100(uc010jwv.3 uc003ony.4 uc010jww.3) ENST00000481247(uc003ooa.4 uc010jwx.3)

ENST00000328403 ENST00000419706 ENST00000497373 ENST00000498633 ENST00000403056

ENST00000408958

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat BTBD9
		8/92 QIAGEN miScript miRNA Assays for microRNAs that regulate BTBD9 (see all 92):
		hsa-miR-124* hsa-miR-549 hsa-miR-579 hsa-miR-4254 hsa-miR-1321 hsa-miR-520e hsa-miR-374a hsa-miR-138-2*

		Browse SwitchGear 3'UTR luciferase reporter plasmids

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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Additional cDNA sequence:

AK057507.1 AK090930.1 AK126242.1 AL157476.1 BC035667.1 BC101354.2 BC101355.1 BC101356.2

BC101357.1 BX537534.1

5 DOTS entries:

DT.97774578 DT.212249 DT.95197071 DT.100000171 DT.121359443

24/80 AceView cDNA sequences (see all 80):

AI732925 BX279596 F10886 AI824328 CR596814 CB155212 CR616810 AI700921

AI474779 N53643 AI984662 BX353574 AA486863 BX439447 CB161778 AI197834

BX109492 BX114302 BM702303 BX377451 BX377450 AI650360 T23787 AL567269

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for BTBD9 About this scheme

ExUns:	1	^	2a	·	2b	^	3a	·	3b	^	4	^	5	^	6	^	7	^	8	^	9	^	10	^	11	^	12	^	13a	·	13b	·	13c
SP1:																	-
SP2:							-												-
SP3:			-		-		-										-		-
SP4:			-		-		-										-		-
SP5:							-										-		-

ECgene alternative splicing isoforms for BTBD9

(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

BTBD9 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGTGTGAAAA

About this image

BTBD9 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Limb

Zeugopod

Mesenchymal Condensate Cells

Bone, Cartilage

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See BTBD9 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for BTBD9

SOURCE GeneReport for Unigene cluster: Hs.603858

UniProtKB/Swiss-Prot: BTBD9_HUMAN, Q96Q07

Tissue specificity: Highly expressed in kidney and moderately expressed in all other adult and fetal tissues.

Moderately expressed in all specific brain regions examined

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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 animals.

Orthologs for BTBD9 gene from 6/22 species (see all 22) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	BTBD9¹	BTB (POZ) domain containing 9	79.45(n) 90.33(a)		421429 NM_001008459.1 NP_001008459.1
lizard (Anolis carolinensis)	Reptilia	BTBD9⁶	--	92(a)	1 ↔ 1	1(229819745-229988678)
tropical clawed frog (Xenopus tropicalis)	Amphibia	BQ396730.1²	--	76.46(n)		BQ396730.1
zebrafish (Danio rerio)	Actinopterygii	btbd9¹	BTB (POZ) domain containing 9	65.32(n) 72.27(a)		557659 NM_001002198.1 NP_001002198.1
fruit fly (Drosophila melanogaster)	Insecta	CG1826¹	CG1826	54.33(n) 53.58(a)		32000 NM_132421.2 NP_572649.1
worm (Caenorhabditis elegans)	Secernentea	hpo-9¹	Protein HPO-9	49.9(n) 42.99(a)		179117 NM_072438.3 NP_504839.1

ENSEMBL Gene Tree for BTBD9 (if available)
TreeFam Gene Tree for BTBD9 (if available)

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

Paralogs for BTBD9 gene

BTBD1² BTBD2² BTBD6² BTBD19² BTBD3²

5 SIMAP similar genes for BTBD9 using alignment to 4 protein entries: BTBD9_HUMAN (see all proteins):

KBTBD4 KLHL36 RHOBTB3 KLHL24 KLHL7

BTBD9 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 6 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs113592974^1,2	C	--	37854052(+)	`AGGGGA/GCTGGG`	4	--	ds500¹		0	--	--	--	--
rs115013767^1,2	C,F	--	37854245(+)	`CAAGCC/TGGCCT`	4	--	ds500¹		1		NA	120
rs3801^1,2	C,F	--	37854564(+)	`CTGCCC/TGCTTA`	4	--	ut3¹		2		MN NA	304
rs71571309^1,2	C	--	37854865(+)	`CCTAGC/TCCTGA`	4	--	ut3¹		2		NA	122
rs76931875^1,2	F	--	37854927(+)	`TGGGGG/TGTGGG`	4	--	ut3¹		1		NA	120
rs57243891^1,2	C	--	37855181(+)	`AGCAGC/ATGATT`	4	--	ut3¹		4		WA CSA NA	242
rs73423538^1,2	C	--	37855426(+)	`ATTCCG/ACTCAG`	4	--	ut3¹		1		WA	2
rs77385487^1,2	C,F	--	37855471(+)	`TGGGGC/TTCATG`	4	--	ut3¹		2		WA NA	238
rs112398564^1,2	C	--	37855502(+)	`GCAGAC/TGGACT`	4	--	ut3¹		1		CSA	2
rs78347974^1,2		--	37855639(+)	`GGAGCG/AACTGT`	4	--	ut3¹		1		WA	118

HapMap Linkage Disequilibrium report for BTBD9 (38136227 - 38386227 bp, first 250kb of BTBD9)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 8 variations for BTBD9
8 CNVs: 3608 64488 93688 0077 51910 38639 69492 93687
Human Gene Mutation Database (HGMD): BTBD9

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing BTBD9

DNA2.0 Custom Variant and Variant Library Synthesis for BTBD9

(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

BTBD9 for disorders About GeneDecksing

OMIM gene information: 611237 OMIM disorders: --

UniProtKB/Swiss-Prot: BTBD9_HUMAN, Q96Q07

Genetic variations in BTBD9 may be associated with susceptibility to restless legs syndrome type 6 (RLS6)

[MIM:611185]; also called periodic limb movements in sleep. Restless legs syndrome (RLS) is a neurologic disorder

characterized by an uncontrollable urge to move the legs during periods of rest. The majority of patients with RLS

also have periodic limb movements in sleep, which are characterized by involuntary, highly stereotypical, regularly

occurring limb movements that occur during sleep

5 diseases for BTBD9: About MalaCards

restless legs syndrome tourette syndrome essential tremor tremor

adhd

Human Genome Epidemiology (HuGE) Navigator: BTBD9 (6 documents)

Export disorders for BTBD9 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 BTBD9 gene, integrated from 9 sources (see all 23):
(articles sorted by number of sources associating them with BTBD9)

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

Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins. (PubMed id 11572484)^{1, 2, 3} Nagase T....Ohara O. (2001)
A genetic risk factor for periodic limb movements in sleep. (PubMed id 17634447)^{1, 2} Stefansson H.... Stefansson K. (2007)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
A genetic risk factor for low serum ferritin levels in Danish blood donors. (PubMed id 22486183)¹ Sorensen E....Ullum H. (2012)
Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)¹ Udeshi N.D....Carr S.A. (2012)
MEIS1 and BTBD9: genetic association with restless le g syndrome in end stage renal disease. (PubMed id 21572129)¹ Schormair B....Winkelmann J. (2011)
Genome-wide association study identifies novel restles s legs syndrome susceptibility loci on 2p14 and 16q12.1. (PubMed id 21779176)¹ Winkelmann J....Meitinger T. (2011)
Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)¹ Kim W....Gygi S.P. (2011)
Association studies of variants in MEIS1, BTBD9, and MAP2K5/SKOR1 with restless legs syndrome in a US population. (PubMed id 21925394)¹ Yang Q....Wang Q.K. (2011)
Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)¹ Danielsen J.M....Nielsen M.L. (2011)

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 114781	HGNC: 21228	AceView: BTBD9	Ensembl:ENSG00000183826	euGenes: HUgn114781
ECgene: BTBD9	H-InvDB: BTBD9

(According to HUGE)
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HUGE: KIAA1880

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for BTBD9	Pharmacogenomics, SNPs, Pathways

Intellectual Property for BTBD9 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 BTBD9 gene:
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GeneCards and IP:
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BTBD9 Gene

BTB (POZ) domain containing 9

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BTBD9 Gene

BTB (POZ) domain containing 9

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