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

Gene ID: 114781, updated on 3-Apr-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (38168451..38639929, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (37993123..38464464, complement)
105.20220307 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 ATAC-STARR-seq lymphoblastoid silent region 17159 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:37896413-37896914 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17160 Neighboring gene RNA, variant U1 small nuclear 33 Neighboring gene Sharpr-MPRA regulatory region 1536 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_chr6:38135966-38136596 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:38136597-38137228 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:38137229-38137860 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 ATAC-STARR-seq lymphoblastoid silent region 17161 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:38607667-38608167 Neighboring gene uncharacterized LOC105375044 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
  • 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. The BTBD9 gene polymorphisms in Polish patients with Gilles de la Tourette syndrome. Janik P, et al. Acta Neurobiol Exp (Wars), 2014. PMID 24993631
  2. The BTBD9 gene may be associated with antipsychotic-induced restless legs syndrome in schizophrenia. Kang SG, et al. Hum Psychopharmacol, 2013 Mar. PMID 23361623
  3. Analysis of the BTBD9 and HTR2C variants in Chinese Han patients with Tourette syndrome. Guo Y, et al. Psychiatr Genet, 2012 Dec. PMID 22914617
  4. A genetic risk factor for low serum ferritin levels in Danish blood donors. Sørensen E, et al. Transfusion, 2012 Dec. PMID 22486183
  5. A genetic risk factor for periodic limb movements in sleep. Stefansson H, et al. N Engl J Med, 2007 Aug 16. PMID 17634447

See all (44) 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)

Genotypes

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

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_2023_10

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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