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Aliases for ZBTB18 Gene

Aliases for ZBTB18 Gene

  • Zinc Finger And BTB Domain Containing 18 2 3
  • Zinc Finger Protein 238 2 3 4
  • ZNF238 3 4 6
  • RP58 3 4 6
  • 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
  • MRD22 3 6
  • TAZ-1 3 4
  • Zinc Finger And BTB Domain-Containing Protein 18 3
  • C2H2-171 3
  • Taz1 4

External Ids for ZBTB18 Gene

Previous Symbols for ZBTB18 Gene

  • ZNF238

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 progeroid syndrome, penttinen type. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is ENSG00000254553.

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

Genomic Location for ZBTB18 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ZBTB18 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZBTB18 Gene

No data available for Regulatory Elements 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

Proteomics data for ZBTB18 Gene at MOPED

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 for ZBTB18 Gene

Gene Families for ZBTB18 Gene

HGNC:
  • ZNF :Zinc fingers, C2H2-type
  • BTBD :BTB/POZ domain containing

Graphical View of Domain Structure for InterPro Entry

Q99592

UniProtKB/Swiss-Prot:

ZBT18_HUMAN
Domain:
  • Contains 1 BTB (POZ) domain.:
    • Q99592
Family:
  • Belongs to the krueppel C2H2-type zinc-finger protein family. ZBTB18 subfamily.:
    • Q99592
Similarity:
  • Contains 4 C2H2-type zinc fingers.:
    • Q99592
genes like me logo Genes that share domains with ZBTB18: view

No data available for Suggested Antigen Peptide Sequences for ZBTB18 Gene

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:0003677 DNA binding TAS 9013868
GO:0003700 sequence-specific DNA binding transcription factor activity TAS 9756912
GO:0005515 protein binding IPI 25416956
GO:0043565 sequence-specific DNA binding IDA 9756912
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ZBTB18: view
genes like me logo Genes that share phenotypes with ZBTB18: view

Animal Models for ZBTB18 Gene

MGI Knock Outs for ZBTB18:

Transcription Factor Targeting for ZBTB18 Gene

Selected GeneGlobe predicted Target genes for ZBTB18

No data available for Enzyme Numbers (IUBMB) and HOMER Transcription 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 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:0001701 in utero embryonic development IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0007519 skeletal muscle tissue development ISS --
GO:0021549 cerebellum development IEA --
genes like me logo Genes that share ontologies with ZBTB18: view

No data available for Pathways by source for ZBTB18 Gene

Transcripts for ZBTB18 Gene

mRNA/cDNA for ZBTB18 Gene

Unigene Clusters for ZBTB18 Gene

Zinc finger and BTB domain containing 18:
Representative Sequences:

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 (10.9) and Brain - Cerebellum (7.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for ZBTB18 Gene

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 expressions 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 36
  • 100 (a)
OneToOne
ZNF238 35
  • 99.69 (n)
  • 99.81 (a)
cow
(Bos Taurus)
Mammalia ZBTB18 35
  • 96.8 (n)
  • 99.25 (a)
ZBTB18 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ZBTB18 35
  • 94.16 (n)
  • 97.36 (a)
ZBTB18 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Zbtb18 35
  • 95.86 (n)
  • 99.44 (a)
Zbtb18 16
Zbtb18 36
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ZBTB18 36
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ZBTB18 36
  • 74 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Zfp238 35
  • 95.72 (n)
  • 98.85 (a)
chicken
(Gallus gallus)
Aves ZBTB18 36
  • 98 (a)
OneToOne
ZNF238 35
  • 91.9 (n)
  • 97.36 (a)
lizard
(Anolis carolinensis)
Reptilia ZBTB18 36
  • 97 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia znf238-prov 35
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.17626 35
zbtb18 35
  • 81.77 (n)
  • 87.52 (a)
zebrafish
(Danio rerio)
Actinopterygii zbtb18 35
  • 73.54 (n)
  • 78.21 (a)
zbtb18 36
  • 74 (a)
OneToOne
Species with no ortholog for ZBTB18:
  • 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

Selected 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 MAF
rs1048824 - 244,054,196(+) GGAAG(A/G)AGATG reference, missense
rs1389622 -- 244,052,562(-) ACTTC(C/T)CCTTT intron-variant, upstream-variant-2KB
rs2453189 -- 244,050,473(+) ACACA(C/G)ATCAA intron-variant, upstream-variant-2KB
rs2486536 -- 244,056,261(+) AAATA(A/G)CACCA utr-variant-3-prime
rs3210202 -- 244,057,287(+) ATTGC(C/T)TTTTC utr-variant-3-prime

Relevant External Links for ZBTB18 Gene

HapMap Linkage Disequilibrium report
ZBTB18
Human Gene Mutation Database (HGMD)
ZBTB18

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for ZBTB18 Gene

Disorders for ZBTB18 Gene

(1) OMIM Diseases for ZBTB18 Gene (608433)

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.
genes like me logo Genes that share disorders with ZBTB18: view

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
  2. Rapid isolation and characterization of 118 novel C2H2-type zinc finger cDNAs expressed in human brain. (PMID: 7633419) Becker K.G. … Drew P.D. (Hum. Mol. Genet. 1995) 3 4
  3. Isolation and characterization of a cDNA encoding a translin-like protein, TRAX. (PMID: 9013868) Aoki K. … Kasai M. (FEBS Lett. 1997) 2 3
  4. C2H2-171: a novel human cDNA representing a developmentally regulated POZ domain/zinc finger protein preferentially expressed in brain. (PMID: 9568537) Becker K.G. … Drew P.D. (Int. J. Dev. Neurosci. 1997) 2 3
  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

Products for ZBTB18 Gene

Sources for ZBTB18 Gene

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