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Aliases for ZBTB18 Gene

Aliases for ZBTB18 Gene

  • Zinc Finger And BTB Domain Containing 18 2 3 5
  • Zinc Finger Protein 238 2 3 4
  • Translin-Associated Zinc Finger Protein 1 3 4
  • Transcriptional Repressor RP58 3 4
  • Zinc Finger Protein C2H2-171 3 4
  • 58 KDa Repressor Protein 3 4
  • ZNF238 3 4
  • TAZ-1 3 4
  • RP58 3 4
  • Zinc Finger And BTB Domain-Containing Protein 18 3
  • C2H2-171 3
  • MRD22 3
  • Taz1 4

External Ids for ZBTB18 Gene

Previous HGNC Symbols for ZBTB18 Gene

  • ZNF238

Previous GeneCards Identifiers for ZBTB18 Gene

  • GC01P244216

Summaries for ZBTB18 Gene

Entrez Gene Summary for ZBTB18 Gene

  • This gene encodes a C2H2-type zinc finger protein which acts a transcriptional repressor of genes involved in neuronal development. The encoded protein recognizes a specific sequence motif and recruits components of chromatin to target genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]

GeneCards Summary for ZBTB18 Gene

ZBTB18 (Zinc Finger And BTB Domain Containing 18) is a Protein Coding gene. Diseases associated with ZBTB18 include Mental Retardation, Autosomal Dominant 22. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and sequence-specific DNA binding. An important paralog of this gene is ZBTB42.

UniProtKB/Swiss-Prot for ZBTB18 Gene

  • Transcriptional repressor that plays a role in various developmental processes such as myogenesis and brain development. Plays a key role in myogenesis by directly repressing the expression of ID2 and ID3, 2 inhibitors of skeletal myogenesis. Also involved in controlling cell division of progenitor cells and regulating the survival of postmitotic cortical neurons. Specifically binds the consensus DNA sequence 5-[AC]ACATCTG[GT][AC]-3 which contains the E box core, and acts by recruiting chromatin remodeling multiprotein complexes. May also play a role in the organization of chromosomes in the nucleus.

Gene Wiki entry for ZBTB18 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ZBTB18 Gene

Genomics for ZBTB18 Gene

Regulatory Elements for ZBTB18 Gene

Enhancers for ZBTB18 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
GH01F244046 2 FANTOM5 ENCODE 23.2 +0.8 756 7.4 PKNOX1 MLX SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF207 ZNF548 FOS ZBTB18 LINC01347 ENSG00000227230 ENSG00000253326 RPL37P8 ENSG00000236031 AKT3 LOC440742
GH01F244191 0.4 FANTOM5 5.9 +142.8 142819 0.3 ATF1 PKNOX1 ARNT ZNF766 GATA2 CBX5 REST CREB3 SMARCA4 PBX2 ZBTB18 GC01M244263 LOC105373261
GH01F244186 0.9 FANTOM5 3.7 +137.6 137637 0.1 JUND NR2F1 ZBTB33 KDM1A EMSY NR2F2 ZBTB18 LOC105373261 GC01M244263
GH01F244195 0.3 FANTOM5 3.5 +146.4 146361 0.1 ZBTB18 GC01M244263 LOC105373261
GH01F244253 1.4 FANTOM5 Ensembl ENCODE 2 +205.5 205462 2.0 SCRT1 CTCF CBX3 RNF2 L3MBTL2 MAX MYC SPI1 MGA AKT3 ZBTB18 ADSS GC01M244263 LOC105373261
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around ZBTB18 on UCSC Golden Path with GeneCards custom track

Promoters for ZBTB18 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001592528 561 5401 PKNOX1 MLX SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF207 ZNF548 FOS

Genomic Location for ZBTB18 Gene

Chromosome:
1
Start:
244,048,939 bp from pter
End:
244,057,476 bp from pter
Size:
8,538 bases
Orientation:
Plus strand

Genomic View for ZBTB18 Gene

Genes around ZBTB18 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZBTB18 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ZBTB18 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZBTB18 Gene

Proteins for ZBTB18 Gene

  • Protein details for ZBTB18 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99592-ZBT18_HUMAN
    Recommended name:
    Zinc finger and BTB domain-containing protein 18
    Protein Accession:
    Q99592
    Secondary Accessions:
    • A8K5U3
    • Q13397
    • Q5VU40
    • Q8N463
    • Q9UD99

    Protein attributes for ZBTB18 Gene

    Size:
    522 amino acids
    Molecular mass:
    58354 Da
    Quaternary structure:
    • Interacts with DNMT3A.

    Alternative splice isoforms for ZBTB18 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ZBTB18 Gene

Post-translational modifications for ZBTB18 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ZBTB18 Gene

No data available for DME Specific Peptides for ZBTB18 Gene

Domains & Families for ZBTB18 Gene

Gene Families for ZBTB18 Gene

Suggested Antigen Peptide Sequences for ZBTB18 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q99592

UniProtKB/Swiss-Prot:

ZBT18_HUMAN :
  • Contains 1 BTB (POZ) domain.
  • Belongs to the krueppel C2H2-type zinc-finger protein family. ZBTB18 subfamily.
  • Contains 4 C2H2-type zinc fingers.
Domain:
  • Contains 1 BTB (POZ) domain.
Family:
  • Belongs to the krueppel C2H2-type zinc-finger protein family. ZBTB18 subfamily.
Similarity:
  • Contains 4 C2H2-type zinc fingers.
genes like me logo Genes that share domains with ZBTB18: view

Function for ZBTB18 Gene

Molecular function for ZBTB18 Gene

UniProtKB/Swiss-Prot Function:
Transcriptional repressor that plays a role in various developmental processes such as myogenesis and brain development. Plays a key role in myogenesis by directly repressing the expression of ID2 and ID3, 2 inhibitors of skeletal myogenesis. Also involved in controlling cell division of progenitor cells and regulating the survival of postmitotic cortical neurons. Specifically binds the consensus DNA sequence 5-[AC]ACATCTG[GT][AC]-3 which contains the E box core, and acts by recruiting chromatin remodeling multiprotein complexes. May also play a role in the organization of chromosomes in the nucleus.

Gene Ontology (GO) - Molecular Function for ZBTB18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding TAS 9013868
GO:0003700 transcription factor activity, sequence-specific DNA binding TAS 9756912
GO:0005515 protein binding IPI 25416956
GO:0043565 sequence-specific DNA binding IDA 9756912
genes like me logo Genes that share ontologies with ZBTB18: view
genes like me logo Genes that share phenotypes with ZBTB18: view

Human Phenotype Ontology for ZBTB18 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ZBTB18 Gene

MGI Knock Outs for ZBTB18:

Animal Model Products

miRNA for ZBTB18 Gene

miRTarBase miRNAs that target ZBTB18

Transcription Factor Targets for ZBTB18 Gene

Selected GeneGlobe predicted Target genes for ZBTB18
Targeted motifs for ZBTB18 Gene
HOMER Transcription Factor Regulatory Elements motif ZBTB18
  • Consensus sequence: AACATCTGGA Submotif: canonical Cell Type: HEK293 GEO ID: GSE58341

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) for ZBTB18 Gene

Localization for ZBTB18 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ZBTB18 Gene

Nucleus. Note=Associates with condensed chromatin.

Gene Ontology (GO) - Cellular Components for ZBTB18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000228 nuclear chromosome TAS 9756912
GO:0005634 nucleus TAS 9013868
GO:0005654 nucleoplasm IDA --
GO:0015630 microtubule cytoskeleton IDA --
GO:0045171 intercellular bridge IDA --
genes like me logo Genes that share ontologies with ZBTB18: view

No data available for Subcellular locations from COMPARTMENTS for ZBTB18 Gene

Pathways & Interactions for ZBTB18 Gene

SuperPathways for ZBTB18 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ZBTB18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter ISS --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007275 multicellular organism development IEA --
GO:0007519 skeletal muscle tissue development ISS --
genes like me logo Genes that share ontologies with ZBTB18: view

No data available for Pathways by source and SIGNOR curated interactions for ZBTB18 Gene

Transcripts for ZBTB18 Gene

Unigene Clusters for ZBTB18 Gene

Zinc finger and BTB domain containing 18:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ZBTB18 Gene

No ASD Table

Relevant External Links for ZBTB18 Gene

GeneLoc Exon Structure for
ZBTB18
ECgene alternative splicing isoforms for
ZBTB18

Expression for ZBTB18 Gene

mRNA expression in normal human tissues for ZBTB18 Gene

mRNA differential expression in normal tissues according to GTEx for ZBTB18 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x10.9) and Brain - Cerebellum (x7.0).

Protein differential expression in normal tissues from HIPED for ZBTB18 Gene

This gene is overexpressed in Fetal Brain (40.0) and Testis (25.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ZBTB18 Gene



Protein tissue co-expression partners for ZBTB18 Gene

NURSA nuclear receptor signaling pathways regulating expression of ZBTB18 Gene:

ZBTB18

SOURCE GeneReport for Unigene cluster for ZBTB18 Gene:

Hs.69997

mRNA Expression by UniProt/SwissProt for ZBTB18 Gene:

Q99592-ZBT18_HUMAN
Tissue specificity: Lymphoid tissues, testis, heart, brain, skeletal muscle, and pancreas and, at much lower level, other tissues.
genes like me logo Genes that share expression patterns with ZBTB18: view

Primer Products

Orthologs for ZBTB18 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ZBTB18 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ZBTB18 35
  • 100 (a)
OneToOne
ZNF238 34
  • 99.69 (n)
oppossum
(Monodelphis domestica)
Mammalia ZBTB18 35
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ZBTB18 34 35
  • 96.8 (n)
mouse
(Mus musculus)
Mammalia Zbtb18 34 16 35
  • 95.86 (n)
rat
(Rattus norvegicus)
Mammalia Zfp238 34
  • 95.72 (n)
dog
(Canis familiaris)
Mammalia ZBTB18 34 35
  • 94.16 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ZBTB18 35
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves ZBTB18 35
  • 98 (a)
OneToOne
ZNF238 34
  • 91.9 (n)
lizard
(Anolis carolinensis)
Reptilia ZBTB18 35
  • 97 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia zbtb18 34
  • 81.77 (n)
Str.17626 34
African clawed frog
(Xenopus laevis)
Amphibia znf238-prov 34
zebrafish
(Danio rerio)
Actinopterygii zbtb18 34 35
  • 73.54 (n)
Species where no ortholog for ZBTB18 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ZBTB18 Gene

ENSEMBL:
Gene Tree for ZBTB18 (if available)
TreeFam:
Gene Tree for ZBTB18 (if available)

Paralogs for ZBTB18 Gene

(5) SIMAP similar genes for ZBTB18 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with ZBTB18: view

Variants for ZBTB18 Gene

Sequence variations from dbSNP and Humsavar for ZBTB18 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs398122406 Pathogenic 244,054,171(+) CCACG(G/T)AGGCA reference, stop-gained
rs797044885 Likely pathogenic 244,055,156(+) GCACA(A/G)CCTGA reference, missense
rs869312689 Likely pathogenic 244,053,934(+) CTTCA(C/T)GCAGC reference, missense
rs875989785 Likely pathogenic 244,054,892(+) CCTGA(-/G)CCCCG reference, frameshift-variant
rs875989786 Likely pathogenic 244,054,957(+) TCCTG(C/T)AGATC reference, stop-gained

Structural Variations from Database of Genomic Variants (DGV) for ZBTB18 Gene

Variant ID Type Subtype PubMed ID
esv3589398 CNV gain 21293372
nsv1068642 CNV deletion 25765185
nsv954008 CNV deletion 24416366
nsv954009 CNV deletion 24416366

Variation tolerance for ZBTB18 Gene

Residual Variation Intolerance Score: 6.17% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.78; 16.48% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ZBTB18 Gene

Human Gene Mutation Database (HGMD)
ZBTB18
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ZBTB18

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZBTB18 Gene

Disorders for ZBTB18 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ZBTB18 Gene - From: OMIM, ClinVar, Orphanet, and GeneCards

Disorder Aliases PubMed IDs
mental retardation, autosomal dominant 22
  • distal monosomy 1q
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ZBT18_HUMAN
  • Mental retardation, autosomal dominant 22 (MRD22) [MIM:612337]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Additional MRD22 patients have limited or no speech, and variable but characteristic facial features, including round face, prominent forehead, flat nasal bridge, hypertelorism, epicanthal folds, and low-set ears. Other features may include hypotonia, poor growth, microcephaly, agenesis of the corpus callosum, and seizures. {ECO:0000269 PubMed:24193349}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ZBTB18

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ZBTB18
genes like me logo Genes that share disorders with ZBTB18: view

No data available for Genatlas for ZBTB18 Gene

Publications for ZBTB18 Gene

  1. Structural analysis of the gene encoding RP58, a sequence-specific transrepressor associated with heterochromatin. (PMID: 10721697) Meng G. … Kasai M. (Gene 2000) 3 4 22 64
  2. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. Dnmt3a binds deacetylases and is recruited by a sequence-specific repressor to silence transcription. (PMID: 11350943) Fuks F. … Kouzarides T. (EMBO J. 2001) 3 4 64
  5. RP58 associates with condensed chromatin and mediates a sequence- specific transcriptional repression. (PMID: 9756912) Aoki K. … Kasai M. (J. Biol. Chem. 1998) 3 4 64

Products for ZBTB18 Gene

Sources for ZBTB18 Gene

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