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Aliases for BTBD9 Gene

Aliases for BTBD9 Gene

  • BTB Domain Containing 9 2 3
  • BTB (POZ) Domain Containing 9 2 3 5
  • 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. An important paralog of this gene is BTBD1.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BTBD9 Gene

Genomics for BTBD9 Gene

Regulatory Elements for BTBD9 Gene

Enhancers for BTBD9 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around BTBD9 on UCSC Golden Path with GeneCards custom track

Promoters for BTBD9 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around BTBD9 on UCSC Golden Path with GeneCards custom track

Genomic Location for BTBD9 Gene

38,168,451 bp from pter
38,640,547 bp from pter
472,097 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

Proteomics data for BTBD9 Gene at MOPED

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

Suggested Antigen Peptide Sequences for BTBD9 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 BACK (BTB/Kelch associated) domain.
  • Contains 1 BACK (BTB/Kelch associated) domain.
  • Contains 1 BTB (POZ) domain.
genes like me logo Genes that share domains with BTBD9: view

Function for BTBD9 Gene

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

Animal Models for BTBD9 Gene

MGI Knock Outs for BTBD9:

Animal Model 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

Jensen Localization Image for BTBD9 Gene COMPARTMENTS Subcellular localization image for BTBD9 gene
Compartment Confidence
nucleus 3
cytoskeleton 2
cytosol 2
extracellular 1

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

Pathways & Interactions for BTBD9 Gene

SuperPathways for BTBD9 Gene

No Data Available

Gene Ontology (GO) - Biological Process for BTBD9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008344 adult locomotory behavior IEA --
GO:0042428 serotonin metabolic process IEA --
GO:0042748 circadian sleep/wake cycle, non-REM sleep IEA --
GO:0048512 circadian behavior IEA --
GO:0050951 sensory perception of temperature stimulus IEA --
genes like me logo Genes that share ontologies with BTBD9: view

No data available for Pathways by source and SIGNOR curated interactions for BTBD9 Gene

Drugs & Compounds for BTBD9 Gene

No Compound Related Data Available

Transcripts for BTBD9 Gene

Unigene Clusters for BTBD9 Gene

BTB (POZ) domain containing 9:
Representative Sequences:

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 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, MOPED, and MaxQB for BTBD9 Gene

SOURCE GeneReport for Unigene cluster for BTBD9 Gene Hs.603858

mRNA Expression by UniProt/SwissProt for BTBD9 Gene

Tissue specificity: Highly expressed in kidney and moderately expressed in all other adult and fetal tissues. Moderately expressed in all specific brain regions examined.
genes like me logo Genes that share expression patterns with BTBD9: view

Protein tissue co-expression partners for BTBD9 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues 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
(Bos Taurus)
Mammalia BTBD9 35
  • 92.31 (n)
  • 97.55 (a)
BTBD9 36
  • 99 (a)
(Canis familiaris)
Mammalia BTBD9 35
  • 92.31 (n)
  • 97.87 (a)
BTBD9 36
  • 98 (a)
(Mus musculus)
Mammalia Btbd9 35
  • 88.56 (n)
  • 95.75 (a)
Btbd9 16
Btbd9 36
  • 96 (a)
(Pan troglodytes)
Mammalia BTBD9 35
  • 99.7 (n)
  • 100 (a)
BTBD9 36
  • 99 (a)
(Rattus norvegicus)
Mammalia Btbd9 35
  • 87.64 (n)
  • 95.75 (a)
(Monodelphis domestica)
Mammalia BTBD9 36
  • 88 (a)
(Ornithorhynchus anatinus)
Mammalia BTBD9 36
  • 90 (a)
(Gallus gallus)
Aves BTBD9 35
  • 80.4 (n)
  • 91.53 (a)
BTBD9 36
  • 85 (a)
(Anolis carolinensis)
Reptilia BTBD9 36
  • 92 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia btbd9 35
  • 73.33 (n)
  • 85.25 (a)
(Danio rerio)
Actinopterygii btbd9 35
  • 65.65 (n)
  • 72.2 (a)
btbd9 36
  • 71 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2347 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006714 35
  • 55.09 (n)
  • 54.14 (a)
fruit fly
(Drosophila melanogaster)
Insecta BTBD9 35
  • 55.08 (n)
  • 53.33 (a)
CG1826 36
  • 43 (a)
(Caenorhabditis elegans)
Secernentea hpo-9 35
  • 50.22 (n)
  • 42.69 (a)
hpo-9 36
  • 39 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6780 36
  • 55 (a)
Species with no ortholog for BTBD9:
  • 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)

Paralogs for BTBD9 Gene

Paralogs for BTBD9 Gene

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

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 Sequence Context AA Info Type
rs1014742 -- 38,198,169(-) TCCTC(C/T)TCTGT intron-variant
rs1033480 -- 38,353,167(+) GTGTA(A/G)ACATA intron-variant
rs1033598 -- 38,602,431(-) CATAC(A/T)TAAGA intron-variant
rs1073900 -- 38,533,531(+) ACTTA(C/T)AGACC intron-variant
rs1076704 -- 38,240,683(+) GAACA(C/G)CATAT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv885817 CNV Loss 21882294
nsv524213 CNV Loss 19592680
nsv517973 CNV Loss 19592680
nsv522522 CNV Gain 19592680
nsv520567 CNV Loss 19592680
nsv885818 CNV Loss 21882294
nsv885819 CNV Gain 21882294
nsv520053 CNV Gain 19592680
nsv885820 CNV Gain 21882294
nsv5268 CNV Insertion 18451855
nsv349297 CNV Loss 16902084
nsv483138 CNV Complex 15286789
nsv507325 CNV Insertion 20534489
esv27105 CNV Loss 19812545
esv2421878 CNV Deletion 20811451
nsv441993 CNV CNV 18776908
nsv514356 CNV Loss 21397061
nsv515670 CNV Loss 19592680
nsv523561 CNV Loss 19592680
esv269996 CNV Insertion 20981092
esv27759 CNV Gain 19812545
esv2731950 CNV Deletion 23290073
esv2674905 CNV Deletion 23128226
esv267992 CNV Insertion 20981092
dgv1942e1 CNV Complex 17122850
nsv428144 CNV Gain 18775914

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)

Relevant External Links for BTBD9 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

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: DISEASES and GeneCards

Disorder Aliases PubMed IDs
restless legs syndrome
  • wed
restless legs syndrome 6
  • restless legs syndrome, susceptibility to, 6
gilles de la tourette syndrome
  • tourette syndrome
- 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.

Relevant External Links for BTBD9

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) 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. (N. Engl. J. Med. 2007) 3 4 48 67
  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 Res. 2001) 2 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3
  5. Genome wide association study identifies a novel putative mammographic density locus at 1q12-q21. (PMID: 25353672) Fernandez-Navarro P. … Pollan M. (Int. J. Cancer 2015) 3

Products for BTBD9 Gene

Sources for BTBD9 Gene