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

Gene ID: 22903, updated on 13-Mar-2020

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
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
Expression
Ubiquitous expression in placenta (RPKM 23.1), brain (RPKM 20.6) and 25 other tissues See more
Orthologs

Genomic context

See BTBD3 in Genome Data Viewer
Location:
20p12.2
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (11890723..11926595)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (11871377..11907243)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 687 Neighboring gene RN7SK pseudogene 111 Neighboring gene anaphase promoting complex subunit 13 pseudogene Neighboring gene uncharacterized LOC105372531 Neighboring gene uncharacterized LOC107985406

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0952, MGC130038, MGC130039

Gene Ontology Provided by GOA

Process Evidence Code Pubs
cerebral cortex development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cerebral cortex development ISS
Inferred from Sequence or Structural Similarity
more info
 
dendrite morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
dendrite morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
neurogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol ISS
Inferred from Sequence or Structural Similarity
more info
 
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)

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_001282550.1NP_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) 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)
    AA127941, AK299281, AL035448, DC418438
    Consensus CDS
    CCDS13114.1
    UniProtKB/Swiss-Prot
    Q9Y2F9
    UniProtKB/TrEMBL
    B4DRI6
    Related
    ENSP00000483520.1, ENST00000618918.4
    Conserved Domains (3) summary
    smart00875
    Location:165271
    BACK; BTB And C-terminal Kelch
    pfam00651
    Location:52159
    BTB; BTB/POZ domain
    pfam08005
    Location:316459
    PHR; PHR domain
  2. NM_001282551.1NP_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)
    AA127941, AL035448, BC109316, DC314595
    Consensus CDS
    CCDS13114.1
    UniProtKB/Swiss-Prot
    Q9Y2F9
    Related
    ENSP00000477589.1, ENST00000618296.4
    Conserved Domains (3) summary
    smart00875
    Location:165271
    BACK; BTB And C-terminal Kelch
    pfam00651
    Location:52159
    BTB; BTB/POZ domain
    pfam08005
    Location:316459
    PHR; PHR domain
  3. NM_001282552.2NP_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, B4DRI6
    Conserved Domains (3) summary
    pfam08005
    Location:226369
    PHR; PHR domain
    cl28903
    Location:69163
    BACK; BACK (BTB and C-terminal Kelch) domain
    cl38908
    Location:178
    BTB_POZ; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain superfamily
  4. NM_001282554.1NP_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)
    AA127941, AK316256, AL035448, DC314595
    UniProtKB/TrEMBL
    B4DK27
    Conserved Domains (3) summary
    pfam08005
    Location:226369
    PHR; PHR domain
    cl28903
    Location:69163
    BACK; BACK (BTB and C-terminal Kelch) domain
    cl38908
    Location:178
    BTB_POZ; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain superfamily
  5. NM_014962.4NP_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
    Q9Y2F9
    Related
    ENSP00000367471.2, ENST00000378226.7
    Conserved Domains (4) summary
    smart00225
    Location:121220
    BTB; Broad-Complex, Tramtrack and Bric a brac
    smart00875
    Location:226332
    BACK; BTB And C-terminal Kelch
    pfam00651
    Location:113216
    BTB; BTB/POZ domain
    pfam08005
    Location:377520
    PHR; PHR domain
  6. NM_181443.3NP_852108.2  BTB/POZ domain-containing protein 3 isoform d

    See identical proteins and their annotated locations for NP_852108.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) encodes the longest isoform (d).
    Source sequence(s)
    AA127941, AK299281, AL035448
    UniProtKB/TrEMBL
    B4DRI6
    Conserved Domains (4) summary
    smart00225
    Location:164263
    BTB; Broad-Complex, Tramtrack and Bric a brac
    smart00875
    Location:269375
    BACK; BTB And C-terminal Kelch
    pfam00651
    Location:156259
    BTB; BTB/POZ domain
    pfam08005
    Location:420563
    PHR; PHR domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    11890723..11926595
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017027728.2XP_016883217.1  BTB/POZ domain-containing protein 3 isoform X1

    UniProtKB/Swiss-Prot
    Q9Y2F9
    Related
    ENSP00000381971.2, ENST00000399006.6
    Conserved Domains (3) summary
    smart00875
    Location:165271
    BACK; BTB And C-terminal Kelch
    pfam00651
    Location:52159
    BTB; BTB/POZ domain
    pfam08005
    Location:316459
    PHR; PHR domain
  2. XM_017027730.2XP_016883219.1  BTB/POZ domain-containing protein 3 isoform X2

    UniProtKB/TrEMBL
    B4DK27
    Conserved Domains (3) summary
    pfam08005
    Location:226369
    PHR; PHR domain
    cl28903
    Location:69163
    BACK; BACK (BTB and C-terminal Kelch) domain
    cl38908
    Location:178
    BTB_POZ; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain superfamily
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