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

Gene ID: 643376, updated on 5-Jan-2022

Summary

Official Symbol
BTBD18provided by HGNC
Official Full Name
BTB domain containing 18provided by HGNC
Primary source
HGNC:HGNC:37214
See related
Ensembl:ENSG00000233436
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, Nov 2021]
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

See BTBD18 in Genome Data Viewer
Location:
11q12.1
Exon count:
3
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (57743514..57753176, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (57510986..57519253, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene TMX2-CTNND1 readthrough (NMD candidate) Neighboring gene mediator complex subunit 19 Neighboring gene peptidylprolyl isomerase A pseudogene 42 Neighboring gene thioredoxin related transmembrane protein 2 Neighboring gene selenoprotein H Neighboring gene catenin delta 1 Neighboring gene Sharpr-MPRA regulatory region 6223 Neighboring gene olfactory receptor family 5 subfamily BA member 1 pseudogene

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

Phenotypes

Associated conditions

Description Tests
Biological insights from 108 schizophrenia-associated genetic loci.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 negative regulation of transposition IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in negative regulation of transposition ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in piRNA biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in piRNA biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of transcription elongation from RNA polymerase II promoter IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in positive regulation of transcription elongation from RNA polymerase II promoter 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
PubMed 
located_in nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

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_001145101.3NP_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:24120
    BTB; BTB/POZ domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    57743514..57753176 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011545212.2XP_011543514.1  BTB/POZ domain-containing protein 18 isoform X1

    See identical proteins and their annotated locations for XP_011543514.1

    UniProtKB/Swiss-Prot
    B2RXH4
    Conserved Domains (1) summary
    pfam00651
    Location:24120
    BTB; BTB/POZ domain
  2. XM_017018128.1XP_016873617.1  BTB/POZ domain-containing protein 18 isoform X1

    UniProtKB/Swiss-Prot
    B2RXH4
    Related
    ENSP00000432341.2, ENST00000527995.2
    Conserved Domains (1) summary
    pfam00651
    Location:24120
    BTB; BTB/POZ domain
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