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Aliases for BTBD18 Gene

Aliases for BTBD18 Gene

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

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.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for BTBD18 Gene

Genomics for BTBD18 Gene

GeneHancer (GH) Regulatory Elements for BTBD18 Gene

Promoters and enhancers for BTBD18 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11I057751 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 550.8 +1.4 1440 0.7 SOX13 CTCF TEAD4 ARID4B ZNF48 RAD21 GATA3 ZNF143 SMC3 MIXL1 CTNND1 BTBD18 ENSG00000254732 PIR32204 TMX2-CTNND1 GC11P057680
GH11I057774 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12.5 -28.7 -28685 16 PKNOX1 FOXA2 SMAD1 MLX SIN3A FEZF1 FOS SP5 NFYC JUNB CTNND1 YPEL4 TIMM10 MED19 SELENOH BTBD18 ENSG00000254732 CLP1 ENSG00000254602 SMTNL1
GH11I057666 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 10.5 +84.8 84796 4.6 HDGF PKNOX1 CLOCK SMAD1 FOXA2 ARNT ARID4B SIN3A YY1 POLR2B ZDHHC5 SSRP1 ENSG00000269570 ZFP91 MED19 YPEL4 ENSG00000254732 SELENOH BTBD18 CTNND1
GH11I057710 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 11.1 +40.7 40697 3.3 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B MED19 PIR45741 TMX2 TMX2-CTNND1 SSRP1 ZFP91 ENSG00000269570 YPEL4 ENSG00000254732 SELENOH
GH11I057797 Enhancer 1.4 Ensembl ENCODE dbSUPER 12.3 -47.4 -47381 5.6 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A ZNF2 IRF4 YY1 MED19 YPEL4 BTBD18 CTNND1 SELENOH ENSG00000254732 TIMM10 PIR53177 GC11P057856 TMX2-CTNND1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around BTBD18 on UCSC Golden Path with GeneCards custom track

Genomic Locations for BTBD18 Gene

Genomic Locations for BTBD18 Gene
chr11:57,743,514-57,753,256
(GRCh38/hg38)
Size:
9,743 bases
Orientation:
Minus strand
chr11:57,510,986-57,519,253
(GRCh37/hg19)

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 StructureGene Density

RefSeq DNA sequence for BTBD18 Gene

Proteins for BTBD18 Gene

  • 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

Post-translational modifications for BTBD18 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for BTBD18 Gene

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

Suggested Antigen Peptide Sequences for BTBD18 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with BTBD18: view

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

Function for BTBD18 Gene

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.

Gene Ontology (GO) - Molecular Function for BTBD18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 contributes_to ubiquitin-protein transferase activity IBA --
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:

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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

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 5
mitochondrion 2
cytosol 2

Gene Ontology (GO) - Cellular Components for BTBD18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS --
GO:0031463 Cul3-RING ubiquitin ligase complex IBA --
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

SuperPathways for BTBD18 Gene

No Data Available

Interacting Proteins for BTBD18 Gene

Gene Ontology (GO) - Biological Process for BTBD18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007141 male meiosis I ISS,IEA --
GO:0007283 spermatogenesis ISS --
GO:0010529 negative regulation of transposition 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

No Compound Related Data Available

Transcripts for BTBD18 Gene

mRNA/cDNA for BTBD18 Gene

(4) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for BTBD18 Gene

BTB (POZ) domain containing 18:
Representative Sequences:

Clone Products

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

No ASD Table

Relevant External Links for BTBD18 Gene

GeneLoc Exon Structure for
BTBD18
ECgene alternative splicing isoforms for
BTBD18

Expression for BTBD18 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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



NURSA nuclear receptor signaling pathways regulating expression of BTBD18 Gene:

BTBD18

SOURCE GeneReport for Unigene cluster for BTBD18 Gene:

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

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 33 34
  • 99.44 (n)
dog
(Canis familiaris)
Mammalia BTBD18 33 34
  • 85.94 (n)
rat
(Rattus norvegicus)
Mammalia Btbd18 33
  • 82.32 (n)
mouse
(Mus musculus)
Mammalia Gm13718 33
  • 81.91 (n)
Btbd18 16
cow
(Bos Taurus)
Mammalia BTBD18 34
  • 76 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia BTBD18 34
  • 54 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BTBD18 34
  • 48 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii BTBD18 (1 of 2) 34
  • 41 (a)
OneToMany
CT033803.1 34
  • 26 (a)
OneToMany
Species where no ortholog for BTBD18 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for BTBD18 Gene

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

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

No data available for Paralogs for BTBD18 Gene

Variants for BTBD18 Gene

Sequence variations from dbSNP and Humsavar for BTBD18 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1000137260 -- 57,753,966(-) G/A upstream_transcript_variant
rs1000208250 -- 57,751,589(-) C/T 5_prime_UTR_variant, intron_variant
rs1000259235 -- 57,751,859(-) G/A 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000328985 -- 57,752,117(-) CCCCCCC/CCCCCCCC 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000483658 -- 57,744,895(-) C/G coding_sequence_variant, missense_variant

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

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

Disorders for BTBD18 Gene

Additional Disease Information for BTBD18

No disorders were found for BTBD18 Gene.

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

Publications for BTBD18 Gene

  1. A Global Analysis of the Receptor Tyrosine Kinase-Protein Phosphatase Interactome. (PMID: 28065597) Yao Z … Stagljar I (Molecular cell 2017) 3 58
  2. Biological insights from 108 schizophrenia-associated genetic loci. (PMID: 25056061) Schizophrenia Working Group of the Psychiatric Genomics Consortium (Nature 2014) 3 58
  3. Human chromosome 11 DNA sequence and analysis including novel gene identification. (PMID: 16554811) Taylor TD … Sakaki Y (Nature 2006) 4 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 4 58
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 3 58

Products for BTBD18 Gene

Sources for BTBD18 Gene

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