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    BTBD9 BTB domain containing 9 [ Homo sapiens (human) ]

    Gene ID: 114781, updated on 2-Nov-2024

    Summary

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    Official Symbol
    BTBD9provided by HGNC
    Official Full Name
    BTB domain containing 9provided by HGNC
    Primary source
    HGNC:HGNC:21228
    See related
    Ensembl:ENSG00000183826 MIM:611237; AllianceGenome:HGNC:21228
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    dJ322I12.1
    Summary
    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]
    Expression
    Ubiquitous expression in brain (RPKM 4.8), lung (RPKM 3.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See BTBD9 in Genome Data Viewer
    Location:
    6p21.2
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (38168451..38639929, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (37993123..38464464, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (38136227..38607705, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene zinc finger AN1-type containing 3 Neighboring gene Sharpr-MPRA regulatory region 1536 Neighboring gene ITGAE pseudogene 1 Neighboring gene NANOG hESC enhancer GRCh37_chr6:38087202-38088004 Neighboring gene uncharacterized LOC124901314 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:38105943-38106787 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:38120813-38121433 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:38129468-38130436 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:38137229-38137860 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:38136597-38137228 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:38135966-38136596 Neighboring gene uncharacterized LOC124901315 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:38159455-38159964 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:38159965-38160474 Neighboring gene uncharacterized LOC124901525 Neighboring gene NANOG hESC enhancer GRCh37_chr6:38183178-38183679 Neighboring gene uncharacterized LOC105375045 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:38314363-38314969 Neighboring gene VISTA enhancer hs1366 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr6:38400730-38401422 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:38402808-38403499 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:38403500-38404192 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:38445162-38445685 Neighboring gene BTBD9 antisense RNA 1 Neighboring gene MPRA-validated peak5797 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr6:38555730-38555927 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:38607667-38608167 Neighboring gene uncharacterized LOC105375044 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17161 Neighboring gene TFG pseudogene 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:38649004-38649216 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24483 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24484 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:38670063-38670655 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24485 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24486 Neighboring gene glyoxalase I

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. A genetic risk factor for low serum ferritin levels in Danish blood donors. Sørensen E, et al. Transfusion, 2012 Dec. PMID 22486183
    2. A genetic risk factor for periodic limb movements in sleep. Stefansson H, et al. N Engl J Med, 2007 Aug 16. PMID 17634447
    3. The BTBD9 gene polymorphisms in Polish patients with Gilles de la Tourette syndrome. Janik P, et al. Acta Neurobiol Exp (Wars), 2014. PMID 24993631
    4. The BTBD9 gene may be associated with antipsychotic-induced restless legs syndrome in schizophrenia. Kang SG, et al. Hum Psychopharmacol, 2013 Mar. PMID 23361623
    5. Analysis of the BTBD9 and HTR2C variants in Chinese Han patients with Tourette syndrome. Guo Y, et al. Psychiatr Genet, 2012 Dec. PMID 22914617

    See all (48) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Molecular analysis of homeostatic iron regulator, transmembrane protease serine-6, and BTB domain-containing protein-9 variants and iron parameters in blood donors.
      Title: Molecular analysis of homeostatic iron regulator, transmembrane protease serine-6, and BTB domain-containing protein-9 variants and iron parameters in blood donors.
    2. The CRL3(BTBD9) E3 ubiquitin ligase complex targets TNFAIP1 for degradation to suppress cancer cell migration.
      Title: The CRL3(BTBD9) E3 ubiquitin ligase complex targets TNFAIP1 for degradation to suppress cancer cell migration.
    3. results confirmed the association of BTBD9 and MAP2K5/SKOR1 with primary Restless Legs Syndrome in Chinese population
      Title: Association of BTBD9 and MAP2K5/SKOR1 With Restless Legs Syndrome in Chinese Population.
    4. Our findings confirm an association between the BTBD9, MEIS1, and MAP2K5/SKOR1 SNPs and periodic limb movements of sleep in an elderly cohort.
      Title: Genetic associations of periodic limb movements of sleep in the elderly for the MrOS sleep study.
    5. The GLO1 variations were not the source of association of the BTBD9 locus with restless legs syndrome.
      Title: Analysis of functional GLO1 variants in the BTBD9 locus and restless legs syndrome.
    6. The results of this study BTBD9 suggest that the examined BTBD9 variants are not associated with GTS risk, but may be associated with comorbidity and tic severity in the Polish population.
      Title: The BTBD9 gene polymorphisms in Polish patients with Gilles de la Tourette syndrome.
    7. Periodic leg movements during sleep are associated with polymorphisms in BTBD9, TOX3/BC034767, MEIS1, MAP2K5/SKOR1, and PTPRD
      Title: Periodic leg movements during sleep are associated with polymorphisms in BTBD9, TOX3/BC034767, MEIS1, MAP2K5/SKOR1, and PTPRD.
    8. The BTBD9 gene is associated with symptoms of antipsychotic-induced restless legs syndrome in schizophrenia.
      Title: The BTBD9 gene may be associated with antipsychotic-induced restless legs syndrome in schizophrenia.
    9. There was a statistically significant association between the variant rs9296249 of the BTBD9 gene and the TS phenotype
      Title: Analysis of the BTBD9 and HTR2C variants in Chinese Han patients with Tourette syndrome.
    10. A frequent polymorphism in BTBD9 was significantly associated with serum ferritin and low iron stores in blood donors.
      Title: A genetic risk factor for low serum ferritin levels in Danish blood donors.
    Submit: New GeneRIF Correction See all GeneRIFs (19)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A genetic risk factor for periodic limb movements in sleep.
    EBI GWAS Catalog
    Genome wide association study identifies a novel putative mammographic density locus at 1q12-q21.
    EBI GWAS Catalog
    Genome-wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12.1.
    EBI GWAS Catalog
    Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ32945, KIAA1880, MGC120517, MGC120519, MGC120520

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in adult locomotory behavior IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in circadian behavior IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in circadian sleep/wake cycle, non-REM sleep IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in long-term memory IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in modulation of chemical synaptic transmission IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in multicellular organismal-level iron ion homeostasis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of synaptic vesicle endocytosis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in sensory perception of temperature stimulus IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in serotonin metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
    		  

    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.

    Genomic

    1. NG_016545.1 RefSeqGene

      Range
      5220..476698
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001099272.2 → NP_001092742.1  BTB/POZ domain-containing protein 9 isoform a

      See identical proteins and their annotated locations for NP_001092742.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform (a).
      Source sequence(s)
      AL033518, AL079341, AL157476, BC101355, BX537534, DB095510
      Consensus CDS
      CCDS47418.1
      UniProtKB/Swiss-Prot
      Q494V9, Q494W1, Q96M00, Q96Q07
      Related
      ENSP00000418751.1, ENST00000481247.6
      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_001172418.2 → NP_001165889.1  BTB/POZ domain-containing protein 9 isoform c

      See identical proteins and their annotated locations for NP_001165889.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (c) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AK057507, AL033518, AL157476, BC101357
      Consensus CDS
      CCDS54998.1
      UniProtKB/Swiss-Prot
      Q96Q07
      Related
      ENSP00000415365.2, ENST00000419706.6
      Conserved Domains (3) summary
      cd14822
      Location:78 → 137
      BACK_BTBD9_like; BACK-like Domain C-terminal to BTB in BTB/POZ domain-containing protein 9 and similar proteins
      pfam00754
      Location:415 → 512
      F5_F8_type_C; F5/8 type C domain
      cl02518
      Location:3 → 78
      BTB; BTB/POZ domain

    3. NM_052893.2 → NP_443125.1  BTB/POZ domain-containing protein 9 isoform a

      See identical proteins and their annotated locations for NP_443125.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Variants 1 and 2 encode the same isoform.
      Source sequence(s)
      AL033518, AL079341, AL157476, BC101355, DA391209, DB095510
      Consensus CDS
      CCDS47418.1
      UniProtKB/Swiss-Prot
      Q494V9, Q494W1, Q96M00, Q96Q07
      Related
      ENSP00000497066.1, ENST00000649492.1
      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. NM_152733.3 → NP_689946.2  BTB/POZ domain-containing protein 9 isoform b

      See identical proteins and their annotated locations for NP_689946.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (b) is shorter than isoform a.
      Source sequence(s)
      AK057507, AL033518, AL157476, BC101355
      Consensus CDS
      CCDS43458.1
      UniProtKB/Swiss-Prot
      Q96Q07
      Related
      ENSP00000323408.6, ENST00000314100.10
      Conserved Domains (3) summary
      cd14822
      Location:69 → 128
      BACK_BTBD9_like; BACK-like Domain C-terminal to BTB in BTB/POZ domain-containing protein 9 and similar proteins
      pfam00754
      Location:224 → 337
      F5_F8_type_C; F5/8 type C domain
      cl02518
      Location:5 → 69
      BTB; BTB/POZ domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      38168451..38639929 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047418145.1 → XP_047274101.1  BTB/POZ domain-containing protein 9 isoform X1

    2. XM_047418146.1 → XP_047274102.1  BTB/POZ domain-containing protein 9 isoform X2

      UniProtKB/Swiss-Prot
      Q494V9, Q494W1, Q96M00, Q96Q07

    3. XM_011514279.4 → XP_011512581.1  BTB/POZ domain-containing protein 9 isoform X2

      See identical proteins and their annotated locations for XP_011512581.1

      UniProtKB/Swiss-Prot
      Q494V9, Q494W1, Q96M00, Q96Q07
      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_011514281.4 → XP_011512583.1  BTB/POZ domain-containing protein 9 isoform X4

      UniProtKB/TrEMBL
      H7C5Z6
      Conserved Domains (4) summary
      smart00225
      Location:37 → 137
      BTB; Broad-Complex, Tramtrack and Bric a brac
      cd14822
      Location:137 → 196
      BACK_BTBD9_like; BACK-like Domain C-terminal to BTB in BTB/POZ domain-containing protein 9 and similar proteins
      pfam00651
      Location:33 → 134
      BTB; BTB/POZ domain
      cl23730
      Location:292 → 366
      F5_F8_type_C; F5/8 type C domain

    5. XM_011514282.4 → XP_011512584.1  BTB/POZ domain-containing protein 9 isoform X5

      UniProtKB/TrEMBL
      H7C5Z6
      Conserved Domains (2) summary
      cd14822
      Location:137 → 196
      BACK_BTBD9_like; BACK-like Domain C-terminal to BTB in BTB/POZ domain-containing protein 9 and similar proteins
      pfam00651
      Location:33 → 137
      BTB; BTB/POZ domain

    6. XM_011514280.4 → XP_011512582.1  BTB/POZ domain-containing protein 9 isoform X3

      Conserved Domains (4) summary
      smart00225
      Location:37 → 137
      BTB; Broad-Complex, Tramtrack and Bric a brac
      cd14822
      Location:137 → 196
      BACK_BTBD9_like; BACK-like Domain C-terminal to BTB in BTB/POZ domain-containing protein 9 and similar proteins
      pfam00651
      Location:33 → 134
      BTB; BTB/POZ domain
      cl23730
      Location:292 → 366
      F5_F8_type_C; F5/8 type C domain

    7. XM_047418148.1 → XP_047274104.1  BTB/POZ domain-containing protein 9 isoform X5

    8. XM_017010227.3 → XP_016865716.1  BTB/POZ domain-containing protein 9 isoform X5

      UniProtKB/TrEMBL
      H7C5Z6
      Conserved Domains (2) summary
      cd14822
      Location:137 → 196
      BACK_BTBD9_like; BACK-like Domain C-terminal to BTB in BTB/POZ domain-containing protein 9 and similar proteins
      pfam00651
      Location:33 → 137
      BTB; BTB/POZ domain

    9. XM_047418147.1 → XP_047274103.1  BTB/POZ domain-containing protein 9 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      37993123..38464464 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054354152.1 → XP_054210127.1  BTB/POZ domain-containing protein 9 isoform X1

    2. XM_054354154.1 → XP_054210129.1  BTB/POZ domain-containing protein 9 isoform X2

      UniProtKB/Swiss-Prot
      Q494V9, Q494W1, Q96M00, Q96Q07

    3. XM_054354153.1 → XP_054210128.1  BTB/POZ domain-containing protein 9 isoform X2

      UniProtKB/Swiss-Prot
      Q494V9, Q494W1, Q96M00, Q96Q07

    4. XM_054354157.1 → XP_054210132.1  BTB/POZ domain-containing protein 9 isoform X4

    5. XM_054354158.1 → XP_054210133.1  BTB/POZ domain-containing protein 9 isoform X5

    6. XM_054354155.1 → XP_054210130.1  BTB/POZ domain-containing protein 9 isoform X3

    7. XM_054354160.1 → XP_054210135.1  BTB/POZ domain-containing protein 9 isoform X5

    8. XM_054354159.1 → XP_054210134.1  BTB/POZ domain-containing protein 9 isoform X5

    9. XM_054354156.1 → XP_054210131.1  BTB/POZ domain-containing protein 9 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96Q07.2 GenPept UniProtKB/Swiss-Prot:Q96Q07

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