Btbd18 BTB domain containing 18 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Btbd18provided by MGI
Official Full Name: BTB domain containing 18provided by MGI
Primary source: MGI:MGI:3650217
See related: Ensembl:ENSMUSG00000086598 AllianceGenome:MGI:3650217
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Gm13718; Btbd18-ps
Summary: Involved in male meiosis I; piRNA transcription; and spermatogenesis. Acts upstream of with a positive effect on retrotransposon silencing. Located in nucleus. Is expressed in several structures, including diencephalon; genitourinary system; gut; liver; and spleen. Orthologous to human BTBD18 (BTB domain containing 18). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Low expression observed in reference dataset See more
Orthologs: human all
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Genomic context

Location:: 2 D; 2 49.45 cM

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (84489416..84499125)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (84659072..84668789)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

BTBD18 is a specific controller for transcription activation through RNA polymerase II elongation at a subset of genomic PIWI-interacting RNA loci.
Title: BTBD18 Regulates a Subset of piRNA-Generating Loci through Transcription Elongation in Mice.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (1) 1 citation

General gene information

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Gene Ontology Provided by MGI

Process	Evidence Code	Pubs
involved_in cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in male meiosis I	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in piRNA transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription elongation by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in spermatogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_positive_effect transposable element silencing	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: BTB/POZ domain-containing protein 18

Names: BTB (POZ) domain containing 18, pseudogene

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)

NM_001145100.1 → NP_001138572.1 BTB/POZ domain-containing protein 18

See identical proteins and their annotated locations for NP_001138572.1

Status: VALIDATED

Source sequence(s)

AL929079, BY725353, CN719836, CN721982

Consensus CDS

CCDS79815.1

UniProtKB/Swiss-Prot

A0A0A6YY25

Related

ENSMUSP00000142247.2, ENSMUST00000133437.3

Conserved Domains (1) summary

cd18293
Location:20 → 138

BTB_POZ_BTBD18; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in BTB/POZ domain-containing protein 18 (BTBD18)

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000068.8 Reference GRCm39 C57BL/6J

Range

84489416..84499125

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006498526.4 → XP_006498589.1 BTB/POZ domain-containing protein 18 isoform X1

See identical proteins and their annotated locations for XP_006498589.1

UniProtKB/Swiss-Prot

A0A0A6YY25

Conserved Domains (1) summary

cd18293
Location:20 → 138

BTB_POZ_BTBD18; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in BTB/POZ domain-containing protein 18 (BTBD18)