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] See more...

Aliases for BTBD9 Gene

Aliases for BTBD9 Gene

  • BTB Domain Containing 9 2 3 5
  • BTB/POZ Domain-Containing Protein 9 3 4
  • BTB (POZ) Domain Containing 9 2 3
  • DJ322I12.1 3
  • KIAA1880 4

External Ids for BTBD9 Gene

Previous GeneCards Identifiers for BTBD9 Gene

  • GC06M038140
  • GC06M038189
  • GC06M038250
  • GC06M038136
  • GC06M037854

Summaries for BTBD9 Gene

Entrez Gene Summary for BTBD9 Gene

  • 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]

GeneCards Summary for BTBD9 Gene

BTBD9 (BTB Domain Containing 9) is a Protein Coding gene. Diseases associated with BTBD9 include Restless Legs Syndrome and Restless Legs Syndrome 6. Among its related pathways are Circadian rythm related genes. An important paralog of this gene is BTBD6.

Additional gene information for BTBD9 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BTBD9 Gene

Genomics for BTBD9 Gene

GeneHancer (GH) Regulatory Elements for BTBD9 Gene

Promoters and enhancers for BTBD9 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BTBD9 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the BTBD9 gene promoter:
  • Evi-1
  • POU2F1
  • POU2F1a
  • POU2F1b
  • POU2F1c
  • PPAR-gamma1
  • PPAR-gamma2
  • RSRFC4

Genomic Locations for BTBD9 Gene

Genomic Locations for BTBD9 Gene
472,097 bases
Minus strand
471,698 bases
Minus strand

Genomic View for BTBD9 Gene

Genes around BTBD9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BTBD9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BTBD9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BTBD9 Gene

Proteins for BTBD9 Gene

  • Protein details for BTBD9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    BTB/POZ domain-containing protein 9
    Protein Accession:
    Secondary Accessions:
    • Q494V9
    • Q494W1
    • Q96M00

    Protein attributes for BTBD9 Gene

    612 amino acids
    Molecular mass:
    69188 Da
    Quaternary structure:
    No Data Available
    • Sequence=BAB67773.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for BTBD9 Gene


neXtProt entry for BTBD9 Gene

Post-translational modifications for BTBD9 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for BTBD9 Gene

Domains & Families for BTBD9 Gene

Gene Families for BTBD9 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for BTBD9 Gene

GenScript: Design optimal peptide antigens:
  • BTB/POZ domain-containing protein 9 (BTBD9_HUMAN)
genes like me logo Genes that share domains with BTBD9: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for BTBD9 Gene

Function for BTBD9 Gene

Phenotypes From GWAS Catalog for BTBD9 Gene

genes like me logo Genes that share phenotypes with BTBD9: view

Animal Models for BTBD9 Gene

MGI Knock Outs for BTBD9:
  • Btbd9 Btbd9<tm1b(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

miRNA for BTBD9 Gene

miRTarBase miRNAs that target BTBD9

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BTBD9

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for BTBD9 Gene

Localization for BTBD9 Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BTBD9 gene
Compartment Confidence
nucleus 2
cytosol 2
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for BTBD9 Gene

Pathways & Interactions for BTBD9 Gene

PathCards logo

SuperPathways for BTBD9 Gene

SuperPathway Contained pathways
1 Circadian rythm related genes
genes like me logo Genes that share pathways with BTBD9: view

Pathways by source for BTBD9 Gene

1 BioSystems pathway for BTBD9 Gene

Gene Ontology (GO) - Biological Process for BTBD9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007616 long-term memory IEA --
GO:0008344 adult locomotory behavior IBA 21873635
GO:0042428 serotonin metabolic process IEA --
GO:0042748 circadian sleep/wake cycle, non-REM sleep IEA --
GO:0048512 circadian behavior IBA 21873635
genes like me logo Genes that share ontologies with BTBD9: view

No data available for SIGNOR curated interactions for BTBD9 Gene

Drugs & Compounds for BTBD9 Gene

No Compound Related Data Available

Transcripts for BTBD9 Gene

mRNA/cDNA for BTBD9 Gene

(4) REFSEQ mRNAs :
(13) Additional mRNA sequences :
(4) Selected AceView cDNA sequences:
(9) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BTBD9

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for BTBD9 Gene

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

Relevant External Links for BTBD9 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for BTBD9 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for BTBD9 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for BTBD9 Gene

This gene is overexpressed in Placenta (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for BTBD9 Gene

Protein tissue co-expression partners for BTBD9 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of BTBD9 Gene:


SOURCE GeneReport for Unigene cluster for BTBD9 Gene:


mRNA Expression by UniProt/SwissProt for BTBD9 Gene:

Tissue specificity: Detected in the brain (at protein level) (PubMed:22658601). Moderately expressed in all specific brain regions examined (PubMed:11572484). Expressed in the dopaminergic neurons of the substantia nigra and A11 neurons (PubMed:22658601). Highly expressed in kidney and moderately expressed in all other adult and fetal tissues (PubMed:11572484).

Evidence on tissue expression from TISSUES for BTBD9 Gene

  • Nervous system(4.7)
genes like me logo Genes that share expression patterns with BTBD9: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for BTBD9 Gene

Orthologs for BTBD9 Gene

This gene was present in the common ancestor of animals.

Orthologs for BTBD9 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia BTBD9 33 32
  • 99.7 (n)
(Bos Taurus)
Mammalia BTBD9 33 32
  • 92.31 (n)
(Canis familiaris)
Mammalia BTBD9 33 32
  • 92.31 (n)
(Ornithorhynchus anatinus)
Mammalia BTBD9 33
  • 90 (a)
(Mus musculus)
Mammalia Btbd9 17 33 32
  • 88.56 (n)
(Monodelphis domestica)
Mammalia BTBD9 33
  • 88 (a)
(Rattus norvegicus)
Mammalia Btbd9 32
  • 87.64 (n)
(Gallus gallus)
Aves BTBD9 33 32
  • 80.4 (n)
(Anolis carolinensis)
Reptilia BTBD9 33
  • 92 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia btbd9 32
  • 73.33 (n)
(Danio rerio)
Actinopterygii btbd9 33 32
  • 65.65 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2347 32
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006714 32
  • 55.09 (n)
fruit fly
(Drosophila melanogaster)
Insecta BTBD9 32
  • 55.08 (n)
CG1826 33
  • 43 (a)
(Caenorhabditis elegans)
Secernentea hpo-9 33 32
  • 50.22 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6780 33
  • 55 (a)
Species where no ortholog for BTBD9 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for BTBD9 Gene

Gene Tree for BTBD9 (if available)
Gene Tree for BTBD9 (if available)
Evolutionary constrained regions (ECRs) for BTBD9: view image

Paralogs for BTBD9 Gene

Paralogs for BTBD9 Gene

(6) SIMAP similar genes for BTBD9 Gene using alignment to 4 proteins:

  • C9J8E4_HUMAN
  • H7C5Z6_HUMAN
genes like me logo Genes that share paralogs with BTBD9: view

Variants for BTBD9 Gene

Sequence variations from dbSNP and Humsavar for BTBD9 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1000004077 -- 38,460,246(-) T/G genic_downstream_transcript_variant, intron_variant
rs1000013513 -- 38,639,877(-) G/A 5_prime_UTR_variant, genic_upstream_transcript_variant
rs1000014230 -- 38,545,481(-) T/A genic_downstream_transcript_variant, intron_variant
rs1000014724 -- 38,503,720(-) C/T genic_downstream_transcript_variant, intron_variant
rs1000017315 -- 38,553,249(-) T/A genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for BTBD9 Gene

Variant ID Type Subtype PubMed ID
dgv1178e214 CNV loss 21293372
dgv1763e212 CNV loss 25503493
dgv3302n106 CNV deletion 24896259
esv2421878 CNV deletion 20811451
esv2674905 CNV deletion 23128226
esv27105 CNV loss 19812545
esv2731950 CNV deletion 23290073
esv2759421 CNV gain+loss 17122850
esv27759 CNV gain 19812545
esv3303713 CNV mobile element insertion 20981092
esv3305719 CNV mobile element insertion 20981092
esv3384695 CNV insertion 20981092
esv3391037 CNV insertion 20981092
esv3396316 CNV insertion 20981092
esv3406819 CNV insertion 20981092
esv3441636 CNV insertion 20981092
esv3449511 CNV insertion 20981092
esv3567669 CNV deletion 23714750
esv3576142 CNV gain 25503493
esv3608729 CNV gain 21293372
esv3608732 CNV loss 21293372
esv3608733 CNV loss 21293372
esv3608734 CNV loss 21293372
esv3608735 CNV loss 21293372
esv3608736 CNV loss 21293372
esv3608737 CNV loss 21293372
esv3608738 CNV loss 21293372
esv3608739 CNV loss 21293372
esv3608741 CNV loss 21293372
esv3608742 CNV loss 21293372
esv3608744 CNV loss 21293372
nsv1015689 CNV gain 25217958
nsv1020625 CNV gain 25217958
nsv1022724 CNV loss 25217958
nsv1030889 CNV loss 25217958
nsv1032358 CNV loss 25217958
nsv1124051 CNV deletion 24896259
nsv1131958 CNV deletion 24896259
nsv1140619 CNV deletion 24896259
nsv1140620 CNV deletion 24896259
nsv1140621 CNV deletion 24896259
nsv349297 CNV deletion 16902084
nsv428144 CNV gain 18775914
nsv441993 CNV loss 18776908
nsv475971 CNV novel sequence insertion 20440878
nsv507325 OTHER sequence alteration 20534489
nsv514356 CNV loss 21397061
nsv515670 CNV loss 19592680
nsv517973 CNV loss 19592680
nsv520053 CNV gain 19592680
nsv520567 CNV loss 19592680
nsv522522 CNV gain 19592680
nsv523561 CNV loss 19592680
nsv524213 CNV loss 19592680
nsv5268 CNV insertion 18451855
nsv602957 CNV loss 21841781
nsv602958 CNV loss 21841781
nsv950166 CNV deletion 24416366

Variation tolerance for BTBD9 Gene

Residual Variation Intolerance Score: 3.87% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.65; 13.85% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BTBD9 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BTBD9 Gene

Disorders for BTBD9 Gene

MalaCards: The human disease database

(3) MalaCards diseases for BTBD9 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
restless legs syndrome
  • ekbom syndrome
restless legs syndrome 6
  • restless legs syndrome, susceptibility to, 6
gilles de la tourette syndrome
  • gts
- elite association - COSMIC cancer census association via MalaCards
Search BTBD9 in MalaCards View complete list of genes associated with diseases


  • Restless legs syndrome 6 (RLS6) [MIM:611185]: A neurologic sleep/wake disorder characterized by uncomfortable and unpleasant sensations in the legs that appear at rest, usually at night, inducing an irresistible desire to move the legs. The disorder results in nocturnal insomnia and chronic sleep deprivation. The majority of patients also have periodic limb movements in sleep, which are characterized by involuntary, highly stereotypical, regularly occurring limb movements that occur during sleep. {ECO:0000269 PubMed:17634447, ECO:0000269 PubMed:18216367}. Note=Disease susceptibility may be associated with variations affecting the gene represented in this entry.

Additional Disease Information for BTBD9

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with BTBD9: view

No data available for Genatlas for BTBD9 Gene

Publications for BTBD9 Gene

  1. A genetic risk factor for periodic limb movements in sleep. (PMID: 17634447) Stefansson H … Stefansson K (The New England journal of medicine 2007) 3 4 43 56
  2. 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. (PMID: 11572484) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2001) 2 3 4 56
  3. Genome-wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12.1. (PMID: 21779176) Winkelmann J … Meitinger T (PLoS genetics 2011) 3 43 56
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 43 56
  5. Replication of restless legs syndrome loci in three European populations. (PMID: 19279021) Kemlink D … Winkelmann J (Journal of medical genetics 2009) 3 43 56

Products for BTBD9 Gene

Sources for BTBD9 Gene