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

    Gene ID: 22903, updated on 6-Oct-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See BTBD3 in Genome Data Viewer
    Location:
    20p12.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (11890817..11926595)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (11934110..11969888)
    RS_2024_09 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

    Expression

    • 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

    Phenotypes

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

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

      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:38168
      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:159253
      BACK_BTBD3; BACK (BTB and C-terminal Kelch) domain found in BTB/POZ domain-containing protein 3 (BTBD3)
      pfam08005
      Location:315460
      PHR; PHR domain
    2. NM_001282551.2NP_001269480.1  BTB/POZ domain-containing protein 3 isoform b

      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:38168
      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:159253
      BACK_BTBD3; BACK (BTB and C-terminal Kelch) domain found in BTB/POZ domain-containing protein 3 (BTBD3)
      pfam08005
      Location:315460
      PHR; PHR domain
    3. NM_001282552.3NP_001269481.1  BTB/POZ domain-containing protein 3 isoform c

      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:178
      BTB_POZ; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain superfamily
      pfam08005
      Location:225370
      PHR; PHR domain
      cl28903
      Location:69163
      BACK; BACK (BTB and C-terminal Kelch) domain
    4. NM_001282554.2NP_001269483.1  BTB/POZ domain-containing protein 3 isoform c

      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:178
      BTB_POZ; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain superfamily
      pfam08005
      Location:225370
      PHR; PHR domain
      cl28903
      Location:69163
      BACK; BACK (BTB and C-terminal Kelch) domain
    5. NM_001395003.1NP_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:38168
      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:159253
      BACK_BTBD3; BACK (BTB and C-terminal Kelch) domain found in BTB/POZ domain-containing protein 3 (BTBD3)
      pfam08005
      Location:315460
      PHR; PHR domain
    6. NM_001395004.1NP_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:178
      BTB_POZ; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain superfamily
      pfam08005
      Location:225370
      PHR; PHR domain
      cl28903
      Location:69163
      BACK; BACK (BTB and C-terminal Kelch) domain
    7. NM_001395005.1NP_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:99229
      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:220314
      BACK_BTBD3; BACK (BTB and C-terminal Kelch) domain found in BTB/POZ domain-containing protein 3 (BTBD3)
      pfam08005
      Location:376521
      PHR; PHR domain
    8. NM_001395006.1NP_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:99229
      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:220314
      BACK_BTBD3; BACK (BTB and C-terminal Kelch) domain found in BTB/POZ domain-containing protein 3 (BTBD3)
      pfam08005
      Location:376521
      PHR; PHR domain
    9. NM_001395007.1NP_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:38168
      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:159253
      BACK_BTBD3; BACK (BTB and C-terminal Kelch) domain found in BTB/POZ domain-containing protein 3 (BTBD3)
      pfam08005
      Location:315460
      PHR; PHR domain
    10. NM_001395008.1NP_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:178
      BTB_POZ; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain superfamily
      pfam08005
      Location:225370
      PHR; PHR domain
      cl28903
      Location:69163
      BACK; BACK (BTB and C-terminal Kelch) domain
    11. NM_001395009.1NP_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:38168
      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:159253
      BACK_BTBD3; BACK (BTB and C-terminal Kelch) domain found in BTB/POZ domain-containing protein 3 (BTBD3)
      pfam08005
      Location:315460
      PHR; PHR domain
    12. NM_014962.4NP_055777.1  BTB/POZ domain-containing protein 3 isoform a

      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:99229
      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:220314
      BACK_BTBD3; BACK (BTB and C-terminal Kelch) domain found in BTB/POZ domain-containing protein 3 (BTBD3)
      pfam08005
      Location:376521
      PHR; PHR domain
    13. NM_181443.4NP_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:38168
      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:159253
      BACK_BTBD3; BACK (BTB and C-terminal Kelch) domain found in BTB/POZ domain-containing protein 3 (BTBD3)
      pfam08005
      Location:315460
      PHR; PHR 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_000020.11 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

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

      UniProtKB/Swiss-Prot
      D3DW19, Q5JY73, Q9Y2F9
      UniProtKB/TrEMBL
      Q52M42
    2. XM_047440014.1XP_047295970.1  BTB/POZ domain-containing protein 3 isoform X2

      UniProtKB/TrEMBL
      Q52M42

    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_054323198.1XP_054179173.1  BTB/POZ domain-containing protein 3 isoform X1

      UniProtKB/Swiss-Prot
      D3DW19, Q5JY73, Q9Y2F9
      UniProtKB/TrEMBL
      Q52M42