BTBD18 Gene (Protein Coding)

BTB Domain Containing 18

GC11M057743
GIFtS:
29
See more...

Aliases for BTBD18 Gene

Aliases for BTBD18 Gene

  • BTB Domain Containing 18 2 3 5
  • BTB/POZ Domain-Containing Protein 18 3 4
  • BTB (POZ) Domain Containing 18 2 3
  • HCG1730474 3
  • BTBD18 5

External Ids for BTBD18 Gene

Previous GeneCards Identifiers for BTBD18 Gene

  • GC11M057270
  • GC11M057510
  • GC11M053859

Summaries for BTBD18 Gene

GeneCards Summary for BTBD18 Gene

BTBD18 (BTB Domain Containing 18) is a Protein Coding gene. Diseases associated with BTBD18 include Spastic Paraplegia 14, Autosomal Recessive. An important paralog of this gene is KBTBD11.

UniProtKB/Swiss-Prot Summary for BTBD18 Gene

  • Specifically required during spermatogenesis to promote expression of piRNA precursors. The piRNA metabolic process mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons, which is essential for the germline integrity. Acts by facilitating transcription elongation at piRNA loci during pachytene.

Additional gene information for BTBD18 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BTBD18 Gene

Genomics for BTBD18 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for BTBD18 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BTBD18 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BTBD18

Genomic Locations for BTBD18 Gene

Latest Assembly
chr11:57,743,514-57,753,176
(GRCh38/hg38)
Size:
9,663 bases
Orientation:
Minus strand

Previous Assembly
chr11:57,510,986-57,519,253
(GRCh37/hg19 by Entrez Gene)
Size:
8,268 bases
Orientation:
Minus strand

chr11:57,510,986-57,519,253
(GRCh37/hg19 by Ensembl)
Size:
8,268 bases
Orientation:
Minus strand

Genomic View for BTBD18 Gene

Genes around BTBD18 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BTBD18 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BTBD18 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for BTBD18 Gene

Proteins for BTBD18 Gene

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  2. Protein products for research
  3. Assay products for research

  • Protein details for BTBD18 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    B2RXH4-BTBDI_HUMAN
    Recommended name:
    BTB/POZ domain-containing protein 18
    Protein Accession:
    B2RXH4

    Protein attributes for BTBD18 Gene

    Size:
    712 amino acids
    Molecular mass:
    77931 Da
    Quaternary structure:
    No Data Available

neXtProt entry for BTBD18 Gene

Protein Expression for BTBD18 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for BTBD18 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for BTBD18 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for BTBD18 Gene

Domains & Families for BTBD18 Gene

Gene Families for BTBD18 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for BTBD18 Gene

InterPro:

Suggested Antigen Peptide Sequences for BTBD18 Gene

GenScript: Design optimal peptide antigens:
  • BTB/POZ domain-containing protein 18 (BTBDI_HUMAN)
genes like me logo Genes that share domains with BTBD18: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for BTBD18 Gene

Function for BTBD18 Gene

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  1. Animal Models for research
  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
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  6. Cell Lines for research

Molecular function for BTBD18 Gene

UniProtKB/Swiss-Prot Function:
Specifically required during spermatogenesis to promote expression of piRNA precursors. The piRNA metabolic process mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons, which is essential for the germline integrity. Acts by facilitating transcription elongation at piRNA loci during pachytene.

Phenotypes From GWAS Catalog for BTBD18 Gene

Gene Ontology (GO) - Molecular Function for BTBD18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 32296183
genes like me logo Genes that share ontologies with BTBD18: view
genes like me logo Genes that share phenotypes with BTBD18: view

Animal Models for BTBD18 Gene

MGI Knock Outs for BTBD18:

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BTBD18

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for BTBD18 Gene

Localization for BTBD18 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BTBD18 Gene

Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BTBD18 gene
Compartment Confidence
nucleus 4
mitochondrion 1
cytosol 1

Gene Ontology (GO) - Cellular Components for BTBD18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA,ISS --
genes like me logo Genes that share ontologies with BTBD18: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for BTBD18 Gene

Pathways & Interactions for BTBD18 Gene

PathCards logo

SuperPathways for BTBD18 Gene

No Data Available

Gene Ontology (GO) - Biological Process for BTBD18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007141 male meiosis I IEA,ISS --
GO:0007283 spermatogenesis ISS --
GO:0010529 negative regulation of transposition IBA,ISS --
GO:0030154 cell differentiation IEA --
GO:0032968 positive regulation of transcription elongation from RNA polymerase II promoter IEA,ISS --
genes like me logo Genes that share ontologies with BTBD18: view

No data available for Pathways by source and SIGNOR curated interactions for BTBD18 Gene

Drugs & Compounds for BTBD18 Gene

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No Compound Related Data Available

Transcripts for BTBD18 Gene

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mRNA/cDNA for BTBD18 Gene

1 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BTBD18

Alternative Splicing Database (ASD) splice patterns (SP) for BTBD18 Gene

No ASD Table

Relevant External Links for BTBD18 Gene

GeneLoc Exon Structure for
BTBD18

Expression for BTBD18 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for BTBD18 Gene

mRNA expression in normal human tissues for BTBD18 Gene
mRNA expression by GTEx for BTBD18 GenemRNA expression by BioGPS for BTBD18 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for BTBD18 Gene

This gene is overexpressed in Testis (x17.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for BTBD18 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BTBD18

SOURCE GeneReport for Unigene cluster for BTBD18 Gene:

Hs.606355
genes like me logo Genes that share expression patterns with BTBD18: view

Primer products for research

No data available for Protein differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for BTBD18 Gene

Orthologs for BTBD18 Gene

This gene was present in the common ancestor of chordates.

Orthologs for BTBD18 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia BTBD18 29 30
  • 99.44 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia BTBD18 29 30
  • 85.94 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Btbd18 29
  • 82.32 (n)
Mouse
(Mus musculus)
 Mammalia Gm13718 29
  • 81.91 (n)
Btbd18 16
Cow
(Bos Taurus)
 Mammalia BTBD18 30
  • 76 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia BTBD18 30
  • 54 (a)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia BTBD18 30
  • 48 (a)
 OneToOne
Zebrafish
(Danio rerio)
 Actinopterygii BTBD18 (1 of 2) 30
  • 41 (a)
 OneToMany
CT033803.1 30
  • 26 (a)
 OneToMany
Species where no ortholog for BTBD18 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for BTBD18 Gene

ENSEMBL:
Gene Tree for BTBD18 (if available)
TreeFam:
Gene Tree for BTBD18 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BTBD18: view image
Alliance of Genome Resources:
Additional Orthologs for BTBD18

Paralogs for BTBD18 Gene

Paralogs for BTBD18 Gene

(1) SIMAP similar genes for BTBD18 Gene using alignment to 2 proteins:

  • BTBDI_HUMAN
  • E9PRF5_HUMAN
genes like me logo Genes that share paralogs with BTBD18: view

Variants for BTBD18 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BTBD18 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs201912857 -- p.Glu352Gly
rs78162678 -- p.Ser302Thr

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for BTBD18 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for BTBD18 Gene

Variant ID Type Subtype PubMed ID
nsv326 CNV insertion 18451855
nsv508633 CNV deletion 20534489
nsv832164 CNV loss 17160897

Variation tolerance for BTBD18 Gene

Gene Damage Index Score: 1.38; 27.22% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BTBD18 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
BTBD18
Leiden Open Variation Database (LOVD)
BTBD18

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BTBD18 Gene

Disorders for BTBD18 Gene

MalaCards: The human disease database

(1) MalaCards diseases for BTBD18 Gene - From: COP

Disorder Aliases PubMed IDs
spastic paraplegia 14, autosomal recessive
  • spg14
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for BTBD18

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with BTBD18: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BTBD18 Gene

Publications for BTBD18 Gene

  1. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  2. Systematic bromodomain protein screens identify homologous recombination and R-loop suppression pathways involved in genome integrity. (PMID: 31753913) Kim JJ … Miller KM (Genes & development 2019) 3
  3. A Global Analysis of the Receptor Tyrosine Kinase-Protein Phosphatase Interactome. (PMID: 28065597) Yao Z … Stagljar I (Molecular cell 2017) 3
  4. Biological insights from 108 schizophrenia-associated genetic loci. (PMID: 25056061) Schizophrenia Working Group of the Psychiatric Genomics Consortium (Nature 2014) 3
  5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3

ExternalLinks

View latest publications for BTBD18 gene in Mastermind

Products for BTBD18 Gene

Sources for BTBD18 Gene