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

Summary

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 male meiosis I; piRNA transcription; and spermatogenesis. Predicted to act upstream of with a positive effect on retrotransposon silencing. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in testis (RPKM 1.6), adrenal (RPKM 1.4) and 18 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q12.1

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (57743514..57753166, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (57693844..57703498, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (57510986..57519291, complement)

Chromosome 11 - NC_000011.10 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: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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
Biological insights from 108 schizophrenia-associated genetic loci. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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
involved_in spermatogenesis	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_positive_effect transposable element silencing	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)

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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

57743514..57753166 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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

NC_060935.1 Alternate T2T-CHM13v2.0

Range

57693844..57703498 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

B2RXH4
XM_054369642.1 → XP_054225617.1 BTB/POZ domain-containing protein 18 isoform X1

UniProtKB/Swiss-Prot

B2RXH4