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Btbd9 BTB domain containing 9 [ Mus musculus (house mouse) ]

Gene ID: 224671, updated on 5-Mar-2024

Summary

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Official Symbol
Btbd9provided by MGI
Official Full Name
BTB domain containing 9provided by MGI
Primary source
MGI:MGI:1916625
See related
Ensembl:ENSMUSG00000062202 AllianceGenome:MGI:1916625
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
4930402L05; 1700023F20Rik
Summary
Acts upstream of or within several processes, including circadian sleep/wake cycle, non-REM sleep; long-term memory; and multicellular organismal iron ion homeostasis. Is expressed in several structures, including early conceptus; genitourinary system; liver; retina nuclear layer; and telencephalon. Used to study restless legs syndrome. Orthologous to human BTBD9 (BTB domain containing 9). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis adult (RPKM 5.8), whole brain E14.5 (RPKM 4.8) and 28 other tissues See more
Orthologs
human all
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Genomic context

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Location:
17 A3.3; 17 15.62 cM
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 17 NC_000083.7 (30434498..30801595, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 17 NC_000083.6 (30215524..30582621, complement)

Chromosome 17 - NC_000083.7Genomic Context describing neighboring genes Neighboring gene zinc finger, AN1-type domain 3 Neighboring gene predicted gene, 53994 Neighboring gene tubulin alpha, related sequence 1 Neighboring gene STARR-seq mESC enhancer starr_42304 Neighboring gene predicted gene, 25049 Neighboring gene ribosomal protein S17 pseudogene Neighboring gene VISTA enhancer mm1326 Neighboring gene STARR-positive B cell enhancer ABC_E2480 Neighboring gene RIKEN cDNA 1700097N02 gene Neighboring gene STARR-positive B cell enhancer ABC_E8666 Neighboring gene 40S ribosomal protein S13 pseudogene Neighboring gene glyoxalase 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Further Studies on the Role of BTBD9 in the Cerebellum, Sleep-like Behaviors and the Restless Legs Syndrome. Lyu S, et al. Neuroscience, 2022 Nov 21. PMID 36244636, Free PMC Article
  2. The Role of BTBD9 in the Cerebellum, Sleep-like Behaviors and the Restless Legs Syndrome. Lyu S, et al. Neuroscience, 2020 Aug 1. PMID 32446853, Free PMC Article
  3. Rotigotine suppresses sleep-related muscle activity augmented by injection of dialysis patients' sera in a mouse model of restless legs syndrome. Muramatsu K, et al. Sci Rep, 2019 Nov 8. PMID 31704978, Free PMC Article
  4. Motor restlessness, sleep disturbances, thermal sensory alterations and elevated serum iron levels in Btbd9 mutant mice. DeAndrade MP, et al. Hum Mol Genet, 2012 Sep 15. PMID 22678064, Free PMC Article
  5. Enhanced hippocampal long-term potentiation and fear memory in Btbd9 mutant mice. DeAndrade MP, et al. PLoS One, 2012. PMID 22536397, Free PMC Article

See all (41) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Further Studies on the Role of BTBD9 in the Cerebellum, Sleep-like Behaviors and the Restless Legs Syndrome.
    Title: Further Studies on the Role of BTBD9 in the Cerebellum, Sleep-like Behaviors and the Restless Legs Syndrome.
  2. The Role of BTBD9 in the Cerebellum, Sleep-like Behaviors and the Restless Legs Syndrome.
    Title: The Role of BTBD9 in the Cerebellum, Sleep-like Behaviors and the Restless Legs Syndrome.
  3. BTBD9 and dopaminergic dysfunction in the pathogenesis of restless legs syndrome.
    Title: BTBD9 and dopaminergic dysfunction in the pathogenesis of restless legs syndrome.
  4. ystematic BTBD9 deficiency leads to both functional and morphometrical changes of the cerebral cortex, and an alteration in the corticostriatal pathway to medium spiny neurons
    Title: The role of BTBD9 in the cerebral cortex and the pathogenesis of restless legs syndrome.
  5. Knocking out Btbd9 in the corpus striatum led to rest-phase specific motor restlessness and sleep disturbance.
    Title: The Role of BTBD9 in Striatum and Restless Legs Syndrome.
  6. Btbd9 mutant mice had motor restlessness including increased total activity, voluntary activity, and wake time and arousals during the rest phase mimicking restless leg syndrome.
    Title: Motor restlessness, sleep disturbances, thermal sensory alterations and elevated serum iron levels in Btbd9 mutant mice.
  7. Btbd9 is naturally expressed in the hippocampus of mice and is involved in regulating synaptic plasticity and memory.
    Title: Enhanced hippocampal long-term potentiation and fear memory in Btbd9 mutant mice.
  8. In a homologous region in mouse, an area containing btbd9 was also identified as being related to iron homeostasis
    Title: Of mice and men, periodic limb movements and iron: how the human genome informs the mouse genome.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Gene trapped (1) 
  • Targeted (4)  1 citation
  • Endonuclease-mediated (2) 

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Process Evidence Code Pubs
involved_in adult locomotory behavior IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within adult locomotory behavior IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in circadian behavior IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within circadian behavior IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within circadian sleep/wake cycle, non-REM sleep IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within long-term memory IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in modulation of chemical synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in modulation of chemical synaptic transmission IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in modulation of chemical synaptic transmission IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within multicellular organismal-level iron ion homeostasis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within regulation of synaptic vesicle endocytosis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within sensory perception of temperature stimulus IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within serotonin metabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in glutamatergic synapse IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in glutamatergic synapse IMP
Inferred from Mutant Phenotype
more info
 PubMed 

General protein information

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Preferred Names
BTB/POZ domain-containing protein 9
Names
BTB (POZ) domain containing 9

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_027060.1 → NP_081336.1  BTB/POZ domain-containing protein 9

    See identical proteins and their annotated locations for NP_081336.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC113540, AC125044, AC125544
    Consensus CDS
    CCDS28599.1
    UniProtKB/Swiss-Prot
    Q8C726
    UniProtKB/TrEMBL
    Q3U4Z0
    Related
    ENSMUSP00000127300.2, ENSMUST00000168787.8
    Conserved Domains (3) summary
    cd18287
    Location:14 → 133
    BTB_POZ_BTBD9; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in BTB/POZ domain-containing protein 9 (BTBD9)
    cd14822
    Location:137 → 235
    BACK_BTBD9; BACK (BTB and C-terminal Kelch) domain found in BTB/POZ domain-containing protein 9 (BTBD9)
    pfam00754
    Location:292 → 405
    F5_F8_type_C; F5/8 type C domain

  2. NM_172618.2 → NP_766206.1  BTB/POZ domain-containing protein 9

    See identical proteins and their annotated locations for NP_766206.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 3' UTR, compared to variant 1. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC125044, AK052664, BB614864
    Consensus CDS
    CCDS28599.1
    UniProtKB/Swiss-Prot
    Q8C726
    UniProtKB/TrEMBL
    Q3U4Z0
    Related
    ENSMUSP00000078845.6, ENSMUST00000079924.8
    Conserved Domains (3) summary
    cd18287
    Location:14 → 133
    BTB_POZ_BTBD9; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in BTB/POZ domain-containing protein 9 (BTBD9)
    cd14822
    Location:137 → 235
    BACK_BTBD9; BACK (BTB and C-terminal Kelch) domain found in BTB/POZ domain-containing protein 9 (BTBD9)
    pfam00754
    Location:292 → 405
    F5_F8_type_C; F5/8 type C domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000083.7 Reference GRCm39 C57BL/6J

    Range
    30434498..30801595 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006524094.4 → XP_006524157.1  BTB/POZ domain-containing protein 9 isoform X1

    See identical proteins and their annotated locations for XP_006524157.1

    UniProtKB/TrEMBL
    Q3U4Z0
    Conserved Domains (4) summary
    cd18287
    Location:14 → 133
    BTB_POZ_BTBD9; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in BTB/POZ domain-containing protein 9 (BTBD9)
    cd14822
    Location:137 → 235
    BACK_BTBD9; BACK (BTB and C-terminal Kelch) domain found in BTB/POZ domain-containing protein 9 (BTBD9)
    pfam00754
    Location:466 → 567
    F5_F8_type_C; F5/8 type C domain
    cl23730
    Location:292 → 426
    F5_F8_type_C; F5/8 type C domain

  2. XM_011246395.3 → XP_011244697.1  BTB/POZ domain-containing protein 9 isoform X1

    See identical proteins and their annotated locations for XP_011244697.1

    UniProtKB/TrEMBL
    Q3U4Z0
    Conserved Domains (4) summary
    cd18287
    Location:14 → 133
    BTB_POZ_BTBD9; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in BTB/POZ domain-containing protein 9 (BTBD9)
    cd14822
    Location:137 → 235
    BACK_BTBD9; BACK (BTB and C-terminal Kelch) domain found in BTB/POZ domain-containing protein 9 (BTBD9)
    pfam00754
    Location:466 → 567
    F5_F8_type_C; F5/8 type C domain
    cl23730
    Location:292 → 426
    F5_F8_type_C; F5/8 type C domain

  3. XM_030249696.2 → XP_030105556.1  BTB/POZ domain-containing protein 9 isoform X2

    UniProtKB/Swiss-Prot
    Q8C726
    UniProtKB/TrEMBL
    Q3U4Z0
    Related
    ENSMUSP00000157449.2, ENSMUST00000237048.2
    Conserved Domains (3) summary
    cd18287
    Location:14 → 133
    BTB_POZ_BTBD9; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in BTB/POZ domain-containing protein 9 (BTBD9)
    cd14822
    Location:137 → 235
    BACK_BTBD9; BACK (BTB and C-terminal Kelch) domain found in BTB/POZ domain-containing protein 9 (BTBD9)
    pfam00754
    Location:292 → 405
    F5_F8_type_C; F5/8 type C domain

  4. XM_006524095.5 → XP_006524158.1  BTB/POZ domain-containing protein 9 isoform X4

    UniProtKB/TrEMBL
    Q8C2V5
    Conserved Domains (2) summary
    cd18287
    Location:14 → 133
    BTB_POZ_BTBD9; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in BTB/POZ domain-containing protein 9 (BTBD9)
    cd14822
    Location:137 → 235
    BACK_BTBD9; BACK (BTB and C-terminal Kelch) domain found in BTB/POZ domain-containing protein 9 (BTBD9)

  5. XM_006524096.4 → XP_006524159.1  BTB/POZ domain-containing protein 9 isoform X5

    UniProtKB/TrEMBL
    A0A494B989, Q8C2V5
    Conserved Domains (2) summary
    cd18287
    Location:14 → 133
    BTB_POZ_BTBD9; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in BTB/POZ domain-containing protein 9 (BTBD9)
    cd14822
    Location:137 → 235
    BACK_BTBD9; BACK (BTB and C-terminal Kelch) domain found in BTB/POZ domain-containing protein 9 (BTBD9)

  6. XM_036160525.1 → XP_036016418.1  BTB/POZ domain-containing protein 9 isoform X5

    UniProtKB/TrEMBL
    A0A494B989, Q8C2V5
    Related
    ENSMUSP00000157534.2, ENSMUST00000236799.2
    Conserved Domains (2) summary
    cd18287
    Location:14 → 133
    BTB_POZ_BTBD9; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in BTB/POZ domain-containing protein 9 (BTBD9)
    cd14822
    Location:137 → 235
    BACK_BTBD9; BACK (BTB and C-terminal Kelch) domain found in BTB/POZ domain-containing protein 9 (BTBD9)

  7. XM_036160523.1 → XP_036016416.1  BTB/POZ domain-containing protein 9 isoform X3

    UniProtKB/TrEMBL
    Q8C2V5
    Conserved Domains (2) summary
    cd18287
    Location:14 → 133
    BTB_POZ_BTBD9; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in BTB/POZ domain-containing protein 9 (BTBD9)
    cd14822
    Location:137 → 235
    BACK_BTBD9; BACK (BTB and C-terminal Kelch) domain found in BTB/POZ domain-containing protein 9 (BTBD9)
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8C726.1 GenPept UniProtKB/Swiss-Prot:Q8C726

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