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BTBD2 BTB domain containing 2 [ Homo sapiens (human) ]

Gene ID: 55643, updated on 26-Jan-2024

Summary

Official Symbol
BTBD2provided by HGNC
Official Full Name
BTB domain containing 2provided by HGNC
Primary source
HGNC:HGNC:15504
See related
Ensembl:ENSG00000133243 MIM:608531; AllianceGenome:HGNC:15504
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
Summary
The C-terminus of the protein encoded by this gene binds topoisomerase I. The N-terminus contains a proline-rich region and a BTB/POZ domain (broad-complex, Tramtrack and bric a brac/Pox virus and Zinc finger), both of which are typically involved in protein-protein interactions. Subcellularly, the protein localizes to cytoplasmic bodies. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in ovary (RPKM 26.1), kidney (RPKM 19.8) and 25 other tissues See more
Orthologs
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Genomic context

See BTBD2 in Genome Data Viewer
Location:
19p13.3
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (1985448..2015714, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (1957946..1988205, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (1985447..2015713, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372238 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9755 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9756 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13637 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13638 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1946998-1947718 Neighboring gene casein kinase 1 gamma 2 Neighboring gene CSNK1G2 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1954929-1955880 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:1979763-1980263 Neighboring gene uncharacterized LOC124904610 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:1993311-1993811 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:2012303-2012494 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9757 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9758 Neighboring gene uncharacterized LOC107985278 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr19:2028556-2029190 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:2035637-2036137 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:2037698-2038472 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9759 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:2046519-2047019 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:2047523-2048180 Neighboring gene MAPK interacting serine/threonine kinase 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:2048181-2048837 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:2049495-2050151 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13640 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9761

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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in neurogenesis IBA
Inferred from Biological aspect of Ancestor
more info
 
Component Evidence Code Pubs
is_active_in P-body IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in P-body IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
 

General protein information

Preferred Names
BTB/POZ domain-containing protein 2
Names
BTB (POZ) domain containing 2

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_017797.4NP_060267.2  BTB/POZ domain-containing protein 2

    See identical proteins and their annotated locations for NP_060267.2

    Status: REVIEWED

    Source sequence(s)
    AC004678, AF355797, BC000564, BC008035, BU849231
    Consensus CDS
    CCDS12078.1
    UniProtKB/Swiss-Prot
    O60418, O75248, Q4VBZ1, Q6IAC5, Q7Z5W0, Q96SX8, Q9BX70, Q9NPS1, Q9NX81
    Related
    ENSP00000255608.3, ENST00000255608.9
    Conserved Domains (4) summary
    smart00225
    Location:118217
    BTB; Broad-Complex, Tramtrack and Bric a brac
    smart00875
    Location:229328
    BACK; BTB And C-terminal Kelch
    pfam00651
    Location:110214
    BTB; BTB/POZ domain
    pfam08005
    Location:376523
    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_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    1985448..2015714 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047439068.1XP_047295024.1  BTB/POZ domain-containing protein 2 isoform X3

    UniProtKB/TrEMBL
    Q6NT96
  2. XM_047439065.1XP_047295021.1  BTB/POZ domain-containing protein 2 isoform X1

  3. XM_047439067.1XP_047295023.1  BTB/POZ domain-containing protein 2 isoform X3

    UniProtKB/TrEMBL
    Q6NT96
  4. XM_047439066.1XP_047295022.1  BTB/POZ domain-containing protein 2 isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    1957946..1988205 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054321405.1XP_054177380.1  BTB/POZ domain-containing protein 2 isoform X1

  2. XM_054321407.1XP_054177382.1  BTB/POZ domain-containing protein 2 isoform X3

    UniProtKB/TrEMBL
    Q6NT96
  3. XM_054321406.1XP_054177381.1  BTB/POZ domain-containing protein 2 isoform X2

  4. XM_054321408.1XP_054177383.1  BTB/POZ domain-containing protein 2 isoform X3

    UniProtKB/TrEMBL
    Q6NT96