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] See more...

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
  • Zinc Finger And BTB Domain-Containing Protein 18 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
  • 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 and Retinitis Pigmentosa 58. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is ZBTB42.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for ZBTB18 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ZBTB18 Gene

Genomics for ZBTB18 Gene

GeneHancer (GH) Regulatory Elements for ZBTB18 Gene

Promoters and enhancers for ZBTB18 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
GH01J244046 Promoter/Enhancer 3 VISTA UCNEbase EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 523.1 +1.6 1626 9.1 HNRNPK ZBTB40 EP300 SIN3A NRF1 POLR2G SP1 PHF8 ZNF639 ZNF10 ZBTB18 lnc-AKT3-2 COX20 DESI2 AKT3 HNRNPU ENSG00000272195 ENSG00000236031 ADSS2 SDCCAG8
GH01J243378 Promoter 0.3 EPDnew 500 -670.2 -670173 0.1 ZBTB18 piR-38580-025 MIR4677 SDCCAG8
GH01J244253 Enhancer 1.2 FANTOM5 Ensembl ENCODE CraniofacialAtlas 2 +204.9 204862 6.4 CTBP1 MXI1 GATA3 CTCF MAX SPI1 E2F6 VEZF1 POLR2A MYC AKT3 ZBTB18 ADSS2 lnc-ADSS-5 lnc-ADSS-2 LOC105373262
GH01J244191 Enhancer 0.4 FANTOM5 5.9 +142.8 142818 0.3 USF1 ZFX ZBTB18 ENSG00000287531 HSALNG0012072
GH01J244186 Enhancer 0.2 FANTOM5 3.8 +137.6 137637 0.1 ENSG00000287531 ZBTB18 HSALNG0012065
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ZBTB18 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ZBTB18

Genomic Locations for ZBTB18 Gene

Genomic Locations for ZBTB18 Gene
chr1:244,048,939-244,057,476
(GRCh38/hg38)
Size:
8,538 bases
Orientation:
Plus strand
chr1:244,214,561-244,220,778
(GRCh37/hg19)
Size:
6,218 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

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for ZBTB18 Gene

Blocks:
  • BTB/POZ domain
  • C2H2-type zinc finger signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ZBTB18 Gene

GenScript: Design optimal peptide antigens:
  • Zinc finger protein C2H2-171 (ZN238_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q99592

UniProtKB/Swiss-Prot:

ZBT18_HUMAN :
  • Belongs to the krueppel C2H2-type zinc-finger protein family. ZBTB18 subfamily.
Family:
  • Belongs to the krueppel C2H2-type zinc-finger protein family. ZBTB18 subfamily.
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.

Phenotypes From GWAS Catalog for ZBTB18 Gene

Gene Ontology (GO) - Molecular Function for ZBTB18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific NAS 19274049
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding TAS 9013868
GO:0003700 DNA-binding transcription factor activity TAS 9756912
GO:0003713 transcription coactivator activity IDA 25796446
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

CRISPR 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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZBTB18

Clone 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.

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 ZBTB18 gene
Compartment Confidence
nucleus 5
cytoskeleton 2
extracellular 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (3)
See all subcellular structures

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,IDA 9013868
GO:0016607 nuclear speck IDA --
genes like me logo Genes that share ontologies with ZBTB18: view

Pathways & Interactions for ZBTB18 Gene

PathCards logo

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 by RNA polymerase II ISS --
GO:0006974 cellular response to DNA damage stimulus IBA 21873635
GO:0007275 multicellular organism development IEA --
GO:0007519 skeletal muscle tissue development ISS --
GO:0045892 negative regulation of transcription, DNA-templated 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

Drugs & Compounds for ZBTB18 Gene

No Compound Related Data Available

Transcripts for ZBTB18 Gene

mRNA/cDNA for ZBTB18 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZBTB18

Clone 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

Expression for ZBTB18 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 and MOPED for ZBTB18 Gene



Protein tissue co-expression partners for ZBTB18 Gene

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

Evidence on tissue expression from TISSUES for ZBTB18 Gene

  • Nervous system(4.9)
  • Spleen(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ZBTB18 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cheek
  • chin
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • outer ear
  • skull
General:
  • skin
genes like me logo Genes that share expression patterns with ZBTB18: view

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 31
  • 100 (a)
OneToOne
ZNF238 30
  • 99.69 (n)
oppossum
(Monodelphis domestica)
Mammalia ZBTB18 31
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ZBTB18 31 30
  • 96.8 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Zbtb18 17 31 30
  • 95.86 (n)
rat
(Rattus norvegicus)
Mammalia Zfp238 30
  • 95.72 (n)
dog
(Canis familiaris)
Mammalia ZBTB18 31 30
  • 94.16 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ZBTB18 31
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves ZBTB18 31
  • 98 (a)
OneToOne
ZNF238 30
  • 91.9 (n)
lizard
(Anolis carolinensis)
Reptilia ZBTB18 31
  • 97 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia zbtb18 30
  • 81.77 (n)
Str.17626 30
African clawed frog
(Xenopus laevis)
Amphibia znf238-prov 30
zebrafish
(Danio rerio)
Actinopterygii zbtb18 31 30
  • 73.54 (n)
OneToOne
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)
Aminode:
Evolutionary constrained regions (ECRs) for ZBTB18: view image

Paralogs for ZBTB18 Gene

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

  • ZBT18_HUMAN
genes like me logo Genes that share paralogs with ZBTB18: view

Variants for ZBTB18 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ZBTB18 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
666591 Likely Pathogenic: Mental retardation, autosomal dominant 22 244,055,129(+) G/A MISSENSE_VARIANT
689797 Likely Pathogenic: Mental retardation, autosomal dominant 22 244,055,239(+) G/T MISSENSE_VARIANT
722814 Likely Benign: not provided 244,054,026(+) C/T SYNONYMOUS_VARIANT
727702 Likely Benign: not provided 244,054,089(+) C/T SYNONYMOUS_VARIANT
728140 Likely Benign: not provided 244,053,933(+) A/G SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for ZBTB18 Gene

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)

Additional Variant Information 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

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

- 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.

Additional Disease Information for 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 23 54
  2. A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome. (PMID: 24193349) de Munnik SA … Brunner HG (European journal of human genetics : EJHG 2014) 3 4 54
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 54
  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) 3 4 54
  5. Dnmt3a binds deacetylases and is recruited by a sequence-specific repressor to silence transcription. (PMID: 11350943) Fuks F … Kouzarides T (The EMBO journal 2001) 3 4 54

Products for ZBTB18 Gene

Sources for ZBTB18 Gene