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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
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Genomic context

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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

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