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    BTBD3 BTB domain containing 3 [ Homo sapiens (human) ]

    Gene ID: 22903, updated on 3-Apr-2024

    Summary

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    Official Symbol
    BTBD3provided by HGNC
    Official Full Name
    BTB domain containing 3provided by HGNC
    Primary source
    HGNC:HGNC:15854
    See related
    Ensembl:ENSG00000132640 MIM:615566; AllianceGenome:HGNC:15854
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    dJ742J24.1
    Summary
    Enables identical protein binding activity. Predicted to be involved in cerebral cortex development and dendrite morphogenesis. Predicted to be located in nucleus. Predicted to be active in cytosol. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in placenta (RPKM 23.1), brain (RPKM 20.6) and 25 other tissues See more
    Orthologs
    mouse all
    NEW
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    Genomic context

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    See BTBD3 in Genome Data Viewer
    Location:
    20p12.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (11890817..11926595)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (11934110..11969888)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (11871465..11907243)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 687 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr20:11812218-11813417 Neighboring gene RN7SK pseudogene 111 Neighboring gene ANAPC13 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12676 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:11905320-11905820 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:11905821-11906321 Neighboring gene BTBD3 antisense RNA 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr20:12033906-12035105 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:12046496-12047045 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr20:12054402-12055601 Neighboring gene uncharacterized LOC124904869 Neighboring gene uncharacterized LOC107985406

    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. Genome-wide examination of genetic variants associated with response to platinum-based chemotherapy in patients with small-cell lung cancer. Wu C, et al. Pharmacogenet Genomics, 2010 Jun. PMID 20463552
    2. Target gene repression mediated by miRNAs miR-181c and miR-9 both of which are down-regulated by amyloid-β. Schonrock N, et al. J Mol Neurosci, 2012 Feb. PMID 21720722
    3. Salt-inducible kinase 3, SIK3, is a new gene associated with hearing. Wolber LE, et al. Hum Mol Genet, 2014 Dec 1. PMID 25060954, Free PMC Article
    4. Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality. Parsa A, et al. Clin Transl Sci, 2011 Feb. PMID 21348951, Free PMC Article
    5. Novel CUL3 Variant Causing Familial Hyperkalemic Hypertension Impairs Regulation and Function of Ubiquitin Ligase Activity. Chatrathi HE, et al. Hypertension, 2022 Jan. PMID 34878901, Free PMC Article

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. BTBD3 is repressed by miR-9 and -181c, either alone or in combination.
      Title: Target gene repression mediated by miRNAs miR-181c and miR-9 both of which are down-regulated by amyloid-β.
    2. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Genome-wide examination of genetic variants associated with response to platinum-based chemotherapy in patients with small-cell lung cancer.
    Submit: New GeneRIF Correction

    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
    Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog
    Salt-inducible kinase 3, SIK3, is a new gene associated with hearing.
    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

    • KIAA0952, MGC130038, MGC130039

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cerebral cortex development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cerebral cortex development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in dendrite morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in dendrite morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in neurogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    BTB/POZ domain-containing protein 3
    Names
    BTB (POZ) domain containing 3

    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_001282550.3 → NP_001269479.1  BTB/POZ domain-containing protein 3 isoform b

      See identical proteins and their annotated locations for NP_001269479.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) encodes isoform b.
      Source sequence(s)
      AL035448
      Consensus CDS
      CCDS13114.1
      UniProtKB/TrEMBL
      Q52M42
      Related
      ENSP00000483520.1, ENST00000618918.4
      Conserved Domains (3) summary
      cd18348
      Location:38 → 168
      BTB_POZ_BTBD3; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in BTB/POZ domain-containing protein 3 (BTBD3)
      cd18524
      Location:159 → 253
      BACK_BTBD3; BACK (BTB and C-terminal Kelch) domain found in BTB/POZ domain-containing protein 3 (BTBD3)
      pfam08005
      Location:315 → 460
      PHR; PHR domain

    2. NM_001282551.2 → NP_001269480.1  BTB/POZ domain-containing protein 3 isoform b

      See identical proteins and their annotated locations for NP_001269480.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence compared to variant 2. The resulting isoform (b) is shorter at the N-terminus compared to isoform d. Variants 3 and 4 both encode the same isoform (b).
      Source sequence(s)
      AL035448
      Consensus CDS
      CCDS13114.1
      UniProtKB/TrEMBL
      Q52M42
      Related
      ENSP00000477589.1, ENST00000618296.4
      Conserved Domains (3) summary
      cd18348
      Location:38 → 168
      BTB_POZ_BTBD3; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in BTB/POZ domain-containing protein 3 (BTBD3)
      cd18524
      Location:159 → 253
      BACK_BTBD3; BACK (BTB and C-terminal Kelch) domain found in BTB/POZ domain-containing protein 3 (BTBD3)
      pfam08005
      Location:315 → 460
      PHR; PHR domain

    3. NM_001282552.3 → NP_001269481.1  BTB/POZ domain-containing protein 3 isoform c

      See identical proteins and their annotated locations for NP_001269481.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) lacks an alternate exon and uses a downstream start codon compared to variant 2. It encodes isoform c, which has a shorter N-terminus compared to isoform b. Variants 5 and 6 both encode the same isoform (c).
      Source sequence(s)
      AA127941, AK299281, AL035448, DR759697
      UniProtKB/TrEMBL
      B4DK27
      Conserved Domains (3) summary
      cl38908
      Location:1 → 78
      BTB_POZ; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain superfamily
      pfam08005
      Location:225 → 370
      PHR; PHR domain
      cl28903
      Location:69 → 163
      BACK; BACK (BTB and C-terminal Kelch) domain

    4. NM_001282554.2 → NP_001269483.1  BTB/POZ domain-containing protein 3 isoform c

      See identical proteins and their annotated locations for NP_001269483.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR and lacks an alternate exon compared to variant 2. It encodes isoform c, which has a shorter N-terminus compared to isoform b. Variants 5 and 6 both encode the same isoform (c).
      Source sequence(s)
      AL035448
      UniProtKB/TrEMBL
      B4DK27
      Conserved Domains (3) summary
      cl38908
      Location:1 → 78
      BTB_POZ; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain superfamily
      pfam08005
      Location:225 → 370
      PHR; PHR domain
      cl28903
      Location:69 → 163
      BACK; BACK (BTB and C-terminal Kelch) domain

    5. NM_001395003.1 → NP_001381932.1  BTB/POZ domain-containing protein 3 isoform b

      Status: VALIDATED

      Source sequence(s)
      AL035448
      Consensus CDS
      CCDS13114.1
      UniProtKB/TrEMBL
      Q52M42
      Related
      ENSP00000381971.2, ENST00000399006.6
      Conserved Domains (3) summary
      cd18348
      Location:38 → 168
      BTB_POZ_BTBD3; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in BTB/POZ domain-containing protein 3 (BTBD3)
      cd18524
      Location:159 → 253
      BACK_BTBD3; BACK (BTB and C-terminal Kelch) domain found in BTB/POZ domain-containing protein 3 (BTBD3)
      pfam08005
      Location:315 → 460
      PHR; PHR domain

    6. NM_001395004.1 → NP_001381933.1  BTB/POZ domain-containing protein 3 isoform c

      Status: VALIDATED

      Source sequence(s)
      AL035448
      UniProtKB/TrEMBL
      B4DK27
      Conserved Domains (3) summary
      cl38908
      Location:1 → 78
      BTB_POZ; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain superfamily
      pfam08005
      Location:225 → 370
      PHR; PHR domain
      cl28903
      Location:69 → 163
      BACK; BACK (BTB and C-terminal Kelch) domain

    7. NM_001395005.1 → NP_001381934.1  BTB/POZ domain-containing protein 3 isoform a

      Status: VALIDATED

      Source sequence(s)
      AL035448
      Consensus CDS
      CCDS13113.1
      UniProtKB/Swiss-Prot
      D3DW19, Q5JY73, Q9Y2F9
      UniProtKB/TrEMBL
      Q52M42
      Related
      ENSP00000384545.1, ENST00000405977.5
      Conserved Domains (3) summary
      cd18348
      Location:99 → 229
      BTB_POZ_BTBD3; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in BTB/POZ domain-containing protein 3 (BTBD3)
      cd18524
      Location:220 → 314
      BACK_BTBD3; BACK (BTB and C-terminal Kelch) domain found in BTB/POZ domain-containing protein 3 (BTBD3)
      pfam08005
      Location:376 → 521
      PHR; PHR domain

    8. NM_001395006.1 → NP_001381935.1  BTB/POZ domain-containing protein 3 isoform a

      Status: VALIDATED

      Source sequence(s)
      AL035448
      Consensus CDS
      CCDS13113.1
      UniProtKB/Swiss-Prot
      D3DW19, Q5JY73, Q9Y2F9
      UniProtKB/TrEMBL
      Q52M42
      Conserved Domains (3) summary
      cd18348
      Location:99 → 229
      BTB_POZ_BTBD3; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in BTB/POZ domain-containing protein 3 (BTBD3)
      cd18524
      Location:220 → 314
      BACK_BTBD3; BACK (BTB and C-terminal Kelch) domain found in BTB/POZ domain-containing protein 3 (BTBD3)
      pfam08005
      Location:376 → 521
      PHR; PHR domain

    9. NM_001395007.1 → NP_001381936.1  BTB/POZ domain-containing protein 3 isoform b

      Status: VALIDATED

      Source sequence(s)
      AL035448
      Consensus CDS
      CCDS13114.1
      UniProtKB/TrEMBL
      Q52M42
      Conserved Domains (3) summary
      cd18348
      Location:38 → 168
      BTB_POZ_BTBD3; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in BTB/POZ domain-containing protein 3 (BTBD3)
      cd18524
      Location:159 → 253
      BACK_BTBD3; BACK (BTB and C-terminal Kelch) domain found in BTB/POZ domain-containing protein 3 (BTBD3)
      pfam08005
      Location:315 → 460
      PHR; PHR domain

    10. NM_001395008.1 → NP_001381937.1  BTB/POZ domain-containing protein 3 isoform c

      Status: VALIDATED

      Source sequence(s)
      AL035448
      UniProtKB/TrEMBL
      B4DK27
      Conserved Domains (3) summary
      cl38908
      Location:1 → 78
      BTB_POZ; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain superfamily
      pfam08005
      Location:225 → 370
      PHR; PHR domain
      cl28903
      Location:69 → 163
      BACK; BACK (BTB and C-terminal Kelch) domain

    11. NM_001395009.1 → NP_001381938.1  BTB/POZ domain-containing protein 3 isoform b

      Status: VALIDATED

      Source sequence(s)
      AL035448
      Consensus CDS
      CCDS13114.1
      UniProtKB/TrEMBL
      Q52M42
      Conserved Domains (3) summary
      cd18348
      Location:38 → 168
      BTB_POZ_BTBD3; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in BTB/POZ domain-containing protein 3 (BTBD3)
      cd18524
      Location:159 → 253
      BACK_BTBD3; BACK (BTB and C-terminal Kelch) domain found in BTB/POZ domain-containing protein 3 (BTBD3)
      pfam08005
      Location:315 → 460
      PHR; PHR domain

    12. NM_014962.4 → NP_055777.1  BTB/POZ domain-containing protein 3 isoform a

      See identical proteins and their annotated locations for NP_055777.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) differs in the 5' UTR and coding sequence compared to variant 2. The resulting isoform (a) has a shorter and distinct N-terminus compared to isoform d.
      Source sequence(s)
      AA127941, AB023169, AL035448, DC314595
      Consensus CDS
      CCDS13113.1
      UniProtKB/Swiss-Prot
      D3DW19, Q5JY73, Q9Y2F9
      UniProtKB/TrEMBL
      Q52M42
      Related
      ENSP00000367471.2, ENST00000378226.7
      Conserved Domains (3) summary
      cd18348
      Location:99 → 229
      BTB_POZ_BTBD3; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in BTB/POZ domain-containing protein 3 (BTBD3)
      cd18524
      Location:220 → 314
      BACK_BTBD3; BACK (BTB and C-terminal Kelch) domain found in BTB/POZ domain-containing protein 3 (BTBD3)
      pfam08005
      Location:376 → 521
      PHR; PHR domain

    13. NM_181443.4 → NP_852108.3  BTB/POZ domain-containing protein 3 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) encodes isoform b.
      Source sequence(s)
      AL035448
      UniProtKB/TrEMBL
      Q52M42
      Related
      ENSP00000254977.3, ENST00000254977.7
      Conserved Domains (3) summary
      cd18348
      Location:38 → 168
      BTB_POZ_BTBD3; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in BTB/POZ domain-containing protein 3 (BTBD3)
      cd18524
      Location:159 → 253
      BACK_BTBD3; BACK (BTB and C-terminal Kelch) domain found in BTB/POZ domain-containing protein 3 (BTBD3)
      pfam08005
      Location:315 → 460
      PHR; PHR 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_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      11890817..11926595
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047440013.1 → XP_047295969.1  BTB/POZ domain-containing protein 3 isoform X1

      UniProtKB/Swiss-Prot
      D3DW19, Q5JY73, Q9Y2F9

    2. XM_047440014.1 → XP_047295970.1  BTB/POZ domain-containing protein 3 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      11934110..11969888
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054323198.1 → XP_054179173.1  BTB/POZ domain-containing protein 3 isoform X1

      UniProtKB/Swiss-Prot
      D3DW19, Q5JY73, Q9Y2F9
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y2F9.1 GenPept UniProtKB/Swiss-Prot:Q9Y2F9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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