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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.

Additional gene information for BTBD18 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BTBD18 Gene

Genomics for BTBD18 Gene

Regulatory Elements for BTBD18 Gene

Enhancers for BTBD18 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11H057774 2 FANTOM5 Ensembl ENCODE dbSUPER 12.5 -28.7 -28686 15 PKNOX1 FOXA2 MLX SIN3A FEZF1 FOS SP5 NFYC JUNB REST YPEL4 TIMM10 MED19 SELENOH BTBD18 CTNND1 ENSG00000254732 CLP1 ENSG00000254602 SMTNL1
GH11H057797 1.6 Ensembl ENCODE dbSUPER 12.3 -47.4 -47381 5 HDGF PKNOX1 FOXA2 ATF1 MLX ARNT ARID4B SIN3A ZNF2 YY1 MED19 YPEL4 CTNND1 BTBD18 SELENOH ENSG00000254732 TIMM10 PIR53177 GC11P057856
GH11H057496 1.5 Ensembl ENCODE dbSUPER 12 +253.3 253328 6 HDGF PKNOX1 FOXA2 ARID4B DMAP1 YY1 ZNF121 GLIS2 FOS KLF7 TIMM10 RPS4XP13 OR5AZ1P OR9Q2 OR5B1P OR5B15P BTBD18 RTN4RL2 RN7SKP259 MIR130A
GH11H057740 1.2 ENCODE 12.3 +11.4 11367 2 HDGF PKNOX1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF766 RPS4XP13 OR5AZ1P OR9Q2 OR5B15P OR5B1P OR5B21 MED19 BTBD18 ENSG00000254602 GC11P057748
GH11H057666 1.4 ENCODE dbSUPER 10.4 +84.8 84796 4 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A YY1 ZNF766 CBX5 ZNF143 SSRP1 ENSG00000269570 ZFP91 MED19 YPEL4 SELENOH ENSG00000254732 BTBD18 CTNND1 RN7SKP259
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around BTBD18 on UCSC Golden Path with GeneCards custom track

Genomic Location for BTBD18 Gene

Chromosome:
11
Start:
57,743,514 bp from pter
End:
57,753,256 bp from pter
Size:
9,743 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 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

InterPro:
ProtoNet:

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

Phenotypes From GWAS Catalog for BTBD18 Gene

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:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for BTBD18
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

Localization 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
mitochondrion 2
nucleus 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 UniProtKB/Swiss-Prot and 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:0007141 male meiosis I ISS --
GO:0007283 spermatogenesis ISS --
GO:0010529 negative regulation of transposition ISS --
GO:0016567 protein ubiquitination IEA --
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for BTBD18
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

Primer Products

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 Sequence Context AA Info Type
rs1000137260 -- 57,753,966(+) GAATC(A/G)TTTGA intron-variant, upstream-variant-2KB
rs1000208250 -- 57,751,589(+) AGTTG(C/T)TTAGC intron-variant, utr-variant-5-prime
rs1000259235 -- 57,751,859(+) AGAGG(A/G)TGCAC intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs1000328985 -- 57,752,116(+) CGAAA(-/C)CCCCC intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs1000483658 -- 57,744,895(+) AATAG(C/G)CAACA intron-variant, reference, missense

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)

Relevant External Links 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

Relevant External Links for BTBD18

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 2016) 3 60
  2. Biological insights from 108 schizophrenia-associated genetic loci. (PMID: 25056061) Schizophrenia Working Group of the Psychiatric Genomics Consortium (Nature 2014) 3 60
  3. Human chromosome 11 DNA sequence and analysis including novel gene identification. (PMID: 16554811) Taylor TD … Sakaki Y (Nature 2006) 4 60
  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 60
  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 60

Products for BTBD18 Gene

Sources for BTBD18 Gene

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