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Aliases for BTBD9 Gene

Aliases for BTBD9 Gene

  • BTB (POZ) Domain Containing 9 2 3
  • KIAA1880 4 6
  • BTB/POZ Domain-Containing Protein 9 3
  • DJ322I12.1 3

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 (POZ) Domain Containing 9) is a Protein Coding gene. Diseases associated with BTBD9 include restless legs syndrome. 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

Epigenetics Products

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

Genomic Location for BTBD9 Gene

Start:
38,168,451 bp from pter
End:
38,640,426 bp from pter
Size:
471,976 bases
Orientation:
Minus strand

Genomic View for BTBD9 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
    Q96Q07-BTBD9_HUMAN
    Recommended name:
    BTB/POZ domain-containing protein 9
    Protein Accession:
    Q96Q07
    Secondary Accessions:
    • Q494V9
    • Q494W1
    • Q96M00

    Protein attributes for BTBD9 Gene

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

    Alternative splice isoforms for BTBD9 Gene

    UniProtKB/Swiss-Prot:

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

Antibody Products

No data available for DME Specific Peptides for BTBD9 Gene

Domains for BTBD9 Gene

Gene Families for BTBD9 Gene

HGNC:
  • BTBD :BTB/POZ domain containing

Suggested Antigen Peptide Sequences for BTBD9 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96Q07

UniProtKB/Swiss-Prot:

BTBD9_HUMAN :
  • Q96Q07
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

Gene Ontology (GO) - Molecular Function for BTBD9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with BTBD9: view

Phenotypes for BTBD9 Gene

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

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for BTBD9

In Situ Assay Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for BTBD9 Gene

Localization for BTBD9 Gene

Subcellular locations from

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

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

Pathways 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:0007155 cell adhesion --
GO:0007616 long-term memory IEA --
GO:0008344 adult locomotory behavior IEA --
GO:0042428 serotonin metabolic process IEA --
GO:0042748 circadian sleep/wake cycle, non-REM sleep IEA --
genes like me logo Genes that share ontologies with BTBD9: view

No data available for Pathways by source for BTBD9 Gene

Transcripts for BTBD9 Gene

Unigene Clusters for BTBD9 Gene

BTB (POZ) domain containing 9:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for BTBD9

Primer Products

Flow Cytometry 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
BTBD9
ECgene alternative splicing isoforms for
BTBD9

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 for BTBD9 Gene

This gene is overexpressed in Placenta (69.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for BTBD9 Gene

SOURCE GeneReport for Unigene cluster for BTBD9 Gene Hs.603858

mRNA Expression by UniProt/SwissProt for BTBD9 Gene

Q96Q07-BTBD9_HUMAN
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 expressions with BTBD9: view

Expression partners for BTBD9 Gene

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
cow
(Bos Taurus)
Mammalia BTBD9 35
  • 92.31 (n)
  • 97.55 (a)
BTBD9 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BTBD9 35
  • 92.31 (n)
  • 97.87 (a)
BTBD9 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Btbd9 35
  • 88.56 (n)
  • 95.75 (a)
Btbd9 16
Btbd9 36
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia BTBD9 35
  • 99.7 (n)
  • 100 (a)
BTBD9 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Btbd9 35
  • 87.64 (n)
  • 95.75 (a)
oppossum
(Monodelphis domestica)
Mammalia BTBD9 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BTBD9 36
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves BTBD9 35
  • 80.4 (n)
  • 91.53 (a)
BTBD9 36
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BTBD9 36
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia btbd9 35
  • 73.33 (n)
  • 85.25 (a)
zebrafish
(Danio rerio)
Actinopterygii btbd9 35
  • 65.65 (n)
  • 72.2 (a)
btbd9 36
  • 71 (a)
OneToOne
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)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea hpo-9 35
  • 50.22 (n)
  • 42.69 (a)
hpo-9 36
  • 39 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6780 36
  • 55 (a)
OneToOne
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

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

Paralogs for BTBD9 Gene

Paralogs for BTBD9 Gene

Selected 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 MAF
rs3801 -- 38,168,545(+) CTGCC(C/T)GCTTA utr-variant-3-prime
rs15245 -- 38,587,455(+) AACGA(G/T)TTTTC intron-variant
rs228179 -- 38,337,106(+) AGGCC(C/T)TTAAG intron-variant
rs228180 -- 38,333,393(+) tattt(C/T)cactc intron-variant
rs228181 -- 38,332,364(+) CATGT(A/G)ACTGT 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

Relevant External Links for BTBD9 Gene

HapMap Linkage Disequilibrium report
BTBD9
Human Gene Mutation Database (HGMD)
BTBD9

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

Disorders for BTBD9 Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for BTBD9 Gene in MalaCards »

(1) Diseases for BTBD9 Gene including...

UniProtKB/Swiss-Prot

BTBD9_HUMAN
  • 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.

(1) University of Copenhagen DISEASES for BTBD9 Gene

Relevant External Links for BTBD9

Genetic Association Database (GAD)
BTBD9
Human Genome Epidemiology (HuGE) Navigator
BTBD9
genes like me logo Genes that share disorders with BTBD9: view

No data available for OMIM , Novoseek inferred disease relationships and Genatlas for BTBD9 Gene

Publications for BTBD9 Gene

  1. 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 4
  2. A genetic risk factor for periodic limb movements in sleep. (PMID: 17634447) Stefansson H. … Stefansson K. (N. Engl. J. Med. 2007) 3 4 48
  3. Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions. (PMID: 17637780) Winkelmann J. … Meitinger T. (Nat. Genet. 2007) 3 48
  4. Exploring the genetic link between RLS and ADHD. (PMID: 19223043) Schimmelmann B.G. … Hebebrand J. (J Psychiatr Res 2009) 3 48
  5. Replication of restless legs syndrome loci in three European populations. (PMID: 19279021) Kemlink D. … Winkelmann J. (J. Med. Genet. 2009) 3 48

Products for BTBD9 Gene

Sources for BTBD9 Gene

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