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BTBD18 BTB domain containing 18 [ Homo sapiens (human) ]

Gene ID: 643376, updated on 11-Apr-2024

Summary

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Official Symbol
BTBD18provided by HGNC
Official Full Name
BTB domain containing 18provided by HGNC
Primary source
HGNC:HGNC:37214
See related
Ensembl:ENSG00000233436 AllianceGenome:HGNC:37214
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
Summary
Predicted to be involved in several processes, including male gamete generation; piRNA biosynthetic process; and positive regulation of transcription elongation from RNA polymerase II promoter. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in testis (RPKM 1.6), adrenal (RPKM 1.4) and 18 other tissues See more
Orthologs
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Genomic context

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Location:
11q12.1
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (57743514..57753166, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (57693844..57703498, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (57510986..57519291, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:57471607-57472806 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3357 Neighboring gene TMX2-CTNND1 readthrough (NMD candidate) Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr11:57483025-57483535 Neighboring gene mediator complex subunit 19 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:57492459-57492960 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:57492961-57493460 Neighboring gene peptidylprolyl isomerase A pseudogene 42 Neighboring gene thioredoxin related transmembrane protein 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4729 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4730 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4731 Neighboring gene selenoprotein H Neighboring gene catenin delta 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:57546031-57546233 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:57546189-57547075 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:57547076-57547961 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:57551728-57552228 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4732 Neighboring gene Sharpr-MPRA regulatory region 6223 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4733 Neighboring gene olfactory receptor family 5 subfamily BA member 1 pseudogene

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. Biological insights from 108 schizophrenia-associated genetic loci. Schizophrenia Working Group of the Psychiatric Genomics Consortium. Nature, 2014 Jul 24. PMID 25056061, Free PMC Article
  2. A Global Analysis of the Receptor Tyrosine Kinase-Protein Phosphatase Interactome. Yao Z, et al. Mol Cell, 2017 Jan 19. PMID 28065597, Free PMC Article
  3. The sequence of the human genome. Venter JC, et al. Science, 2001 Feb 16. PMID 11181995
  4. SUMOylation of DDX39A Alters Binding and Export of Antiviral Transcripts to Control Innate Immunity. Shi P, et al. J Immunol, 2020 Jul 1. PMID 32393512
  5. Systematic bromodomain protein screens identify homologous recombination and R-loop suppression pathways involved in genome integrity. Kim JJ, et al. Genes Dev, 2019 Dec 1. PMID 31753913, Free PMC Article

See all (8) citations in PubMed

GeneRIFs: Gene References Into Functions

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
Biological insights from 108 schizophrenia-associated genetic loci.
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

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 cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in male meiosis I ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in piRNA transcription ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of transcription elongation by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_positive_effect retrotransposon silencing ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in spermatogenesis ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
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 18
Names
BTB (POZ) domain containing 18
hCG1730474

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_001145101.3 → NP_001138573.1  BTB/POZ domain-containing protein 18

    See identical proteins and their annotated locations for NP_001138573.1

    Status: VALIDATED

    Source sequence(s)
    AP001931
    Consensus CDS
    CCDS44603.1
    UniProtKB/Swiss-Prot
    B2RXH4
    Related
    ENSP00000394472.1, ENST00000422652.6
    Conserved Domains (1) summary
    pfam00651
    Location:24 → 120
    BTB; BTB/POZ 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_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    57743514..57753166 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017018128.2 → XP_016873617.1  BTB/POZ domain-containing protein 18 isoform X1

    UniProtKB/Swiss-Prot
    B2RXH4
    Conserved Domains (1) summary
    pfam00651
    Location:24 → 120
    BTB; BTB/POZ domain

  2. XM_047427405.1 → XP_047283361.1  BTB/POZ domain-containing protein 18 isoform X1

    UniProtKB/Swiss-Prot
    B2RXH4
    Related
    ENSP00000432341.2, ENST00000527995.2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    57693844..57703498 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054369643.1 → XP_054225618.1  BTB/POZ domain-containing protein 18 isoform X1

    UniProtKB/Swiss-Prot
    B2RXH4

  2. XM_054369642.1 → XP_054225617.1  BTB/POZ domain-containing protein 18 isoform X1

    UniProtKB/Swiss-Prot
    B2RXH4
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
B2RXH4.1 GenPept UniProtKB/Swiss-Prot:B2RXH4

Gene LinkOut

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