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Aliases for ZBTB38 Gene

Aliases for ZBTB38 Gene

  • Zinc Finger And BTB Domain Containing 38 2 3 5
  • Protein Phosphatase 1, Regulatory Subunit 171 2 3
  • Zinc Finger And BTB Domain-Containing Protein 38 3
  • PPP1R171 3
  • ZNF921 3
  • CIBZ 3

External Ids for ZBTB38 Gene

Previous GeneCards Identifiers for ZBTB38 Gene

  • GC03P142628
  • GC03P142525
  • GC03P141043
  • GC03P138418

Summaries for ZBTB38 Gene

Entrez Gene Summary for ZBTB38 Gene

  • The protein encoded by this gene is a zinc finger transcriptional activator that binds methylated DNA. The encoded protein can form homodimers or heterodimers through the zinc finger domains. In mouse, inhibition of this protein has been associated with apoptosis in some cell types. [provided by RefSeq, Jun 2010]

GeneCards Summary for ZBTB38 Gene

ZBTB38 (Zinc Finger And BTB Domain Containing 38) is a Protein Coding gene. Diseases associated with ZBTB38 include Kuru and Mature Teratoma. GO annotations related to this gene include nucleic acid binding and protein homodimerization activity. An important paralog of this gene is ZBTB4.

UniProtKB/Swiss-Prot for ZBTB38 Gene

  • Transcriptional regulator with bimodal DNA-binding specificity. Binds with a higher affinity to methylated CpG dinucleotides in the consensus sequence 5-CGCG-3 but can also bind to E-box elements (5-CACGTG-3). Can also bind specifically to a single methyl-CpG pair. Represses transcription in a methyl-CpG-dependent manner (PubMed:16354688). Plays an important role in regulating DNA replication and common fragile sites (CFS) stability in a RBBP6- and MCM10-dependent manner; represses expression of MCM10 which plays an important role in DNA-replication (PubMed:24726359). Acts as a transcriptional activator. May be involved in the differentiation and/or survival of late postmitotic neurons (By similarity).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ZBTB38 Gene

Genomics for ZBTB38 Gene

Regulatory Elements for ZBTB38 Gene

Enhancers for ZBTB38 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
GH03F141382 1.6 FANTOM5 Ensembl ENCODE 19.7 +62.3 62261 7.7 PKNOX1 WRNIP1 FEZF1 YY1 GATA2 REST TBX21 ZNF623 SMARCA4 PBX2 ZBTB38 RASA2 PXYLP1 YWHAQP6 ENSG00000249417 KRT18P35
GH03F141453 1.6 FANTOM5 Ensembl ENCODE 16.6 +131.8 131785 4.2 ELF3 PKNOX1 ATF1 WRNIP1 ARID4B SIN3A RAD21 RARA ZNF143 CREM ZBTB38 RASA2 KRT18P35 ENSG00000249417
GH03F141390 1.1 Ensembl ENCODE 18.8 +68.4 68413 3.6 CTCF TBP WRNIP1 ZNF266 KLF17 ZNF384 FEZF1 ZIC2 RARA HIC1 ZBTB38 YWHAQP6 ENSG00000249417 KRT18P35
GH03F141364 1.2 ENCODE 16.5 +43.7 43723 7.1 HDGF PKNOX1 ARNT CREB3L1 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 RASA2 ZBTB38 YWHAQP6 ENSG00000249417 KRT18P35
GH03F141342 1.1 Ensembl ENCODE 17.4 +21.1 21066 5.5 ATF1 EBF1 RAD21 YY1 KAT2B ZNF316 ZFHX2 EGR1 HNF4G CREM ZBTB38 YWHAQP6 GC03P141334 ENSG00000249417
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ZBTB38 on UCSC Golden Path with GeneCards custom track

Genomic Location for ZBTB38 Gene

Chromosome:
3
Start:
141,324,213 bp from pter
End:
141,449,792 bp from pter
Size:
125,580 bases
Orientation:
Plus strand

Genomic View for ZBTB38 Gene

Genes around ZBTB38 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZBTB38 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ZBTB38 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZBTB38 Gene

Proteins for ZBTB38 Gene

  • Protein details for ZBTB38 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NAP3-ZBT38_HUMAN
    Recommended name:
    Zinc finger and BTB domain-containing protein 38
    Protein Accession:
    Q8NAP3
    Secondary Accessions:
    • D3DNF6

    Protein attributes for ZBTB38 Gene

    Size:
    1195 amino acids
    Molecular mass:
    134257 Da
    Quaternary structure:
    • Interacts with CBFA2T3. Interacts with ZBTB4. Interacts with RBBP6.
    SequenceCaution:
    • Sequence=BAC03868.1; Type=Frameshift; Positions=147; Evidence={ECO:0000305};

neXtProt entry for ZBTB38 Gene

Post-translational modifications for ZBTB38 Gene

  • Ubiquitinated by RBBP6; leading to its degradation by the proteasome.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ZBTB38 Gene

Domains & Families for ZBTB38 Gene

Gene Families for ZBTB38 Gene

Protein Domains for ZBTB38 Gene

Suggested Antigen Peptide Sequences for ZBTB38 Gene

Graphical View of Domain Structure for InterPro Entry

Q8NAP3

UniProtKB/Swiss-Prot:

ZBT38_HUMAN :
  • The BTB domain is not required for activation of transcription or self-association.
  • Contains 10 C2H2-type zinc fingers.
Domain:
  • The BTB domain is not required for activation of transcription or self-association.
  • Contains 1 BTB (POZ) domain.
Similarity:
  • Contains 10 C2H2-type zinc fingers.
genes like me logo Genes that share domains with ZBTB38: view

Function for ZBTB38 Gene

Molecular function for ZBTB38 Gene

UniProtKB/Swiss-Prot Function:
Transcriptional regulator with bimodal DNA-binding specificity. Binds with a higher affinity to methylated CpG dinucleotides in the consensus sequence 5-CGCG-3 but can also bind to E-box elements (5-CACGTG-3). Can also bind specifically to a single methyl-CpG pair. Represses transcription in a methyl-CpG-dependent manner (PubMed:16354688). Plays an important role in regulating DNA replication and common fragile sites (CFS) stability in a RBBP6- and MCM10-dependent manner; represses expression of MCM10 which plays an important role in DNA-replication (PubMed:24726359). Acts as a transcriptional activator. May be involved in the differentiation and/or survival of late postmitotic neurons (By similarity).

Gene Ontology (GO) - Molecular Function for ZBTB38 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003700 transcription factor activity, sequence-specific DNA binding ISS --
GO:0005515 protein binding IPI 16354688
GO:0008327 methyl-CpG binding IDA 16354688
GO:0042803 protein homodimerization activity IDA 16354688
genes like me logo Genes that share ontologies with ZBTB38: view
genes like me logo Genes that share phenotypes with ZBTB38: view

Animal Model Products

miRNA for ZBTB38 Gene

miRTarBase miRNAs that target ZBTB38

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ZBTB38 Gene

Localization for ZBTB38 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ZBTB38 Gene

Nucleus. Chromosome. Note=Localizes to chromocenters. {ECO:0000269 PubMed:16354688}.

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 ZBTB38 gene
Compartment Confidence
extracellular 5
nucleus 5

Gene Ontology (GO) - Cellular Components for ZBTB38 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS --
GO:0005694 chromosome IEA --
GO:0072562 blood microparticle IDA 22516433
genes like me logo Genes that share ontologies with ZBTB38: view

Pathways & Interactions for ZBTB38 Gene

SuperPathways for ZBTB38 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ZBTB38 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006275 regulation of DNA replication IMP 24726359
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006974 cellular response to DNA damage stimulus IMP 24726359
GO:0045892 negative regulation of transcription, DNA-templated IDA 16354688
genes like me logo Genes that share ontologies with ZBTB38: view

No data available for Pathways by source and SIGNOR curated interactions for ZBTB38 Gene

Transcripts for ZBTB38 Gene

Unigene Clusters for ZBTB38 Gene

Zinc finger and BTB domain containing 38:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ZBTB38 Gene

No ASD Table

Relevant External Links for ZBTB38 Gene

GeneLoc Exon Structure for
ZBTB38
ECgene alternative splicing isoforms for
ZBTB38

Expression for ZBTB38 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ZBTB38 Gene

Protein differential expression in normal tissues from HIPED for ZBTB38 Gene

This gene is overexpressed in Esophagus (48.2) and CD8 Tcells (10.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ZBTB38 Gene



Protein tissue co-expression partners for ZBTB38 Gene

NURSA nuclear receptor signaling pathways regulating expression of ZBTB38 Gene:

ZBTB38

SOURCE GeneReport for Unigene cluster for ZBTB38 Gene:

Hs.518301
genes like me logo Genes that share expression patterns with ZBTB38: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for ZBTB38 Gene

Orthologs for ZBTB38 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ZBTB38 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ZBTB38 34 35
  • 99.47 (n)
dog
(Canis familiaris)
Mammalia ZBTB38 34 35
  • 87.42 (n)
cow
(Bos Taurus)
Mammalia ZBTB38 34 35
  • 87.3 (n)
mouse
(Mus musculus)
Mammalia Zbtb38 34 16 35
  • 82.28 (n)
rat
(Rattus norvegicus)
Mammalia Zbtb38 34
  • 82.06 (n)
oppossum
(Monodelphis domestica)
Mammalia ZBTB38 35
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ZBTB38 35
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves ZBTB38 34 35
  • 68.64 (n)
lizard
(Anolis carolinensis)
Reptilia ZBTB38 35
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia zbtb38 34
  • 56.84 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC101882192 34
  • 50.84 (n)
zbtb38 35
  • 34 (a)
OneToOne
Species where no ortholog for ZBTB38 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)
  • 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 ZBTB38 Gene

ENSEMBL:
Gene Tree for ZBTB38 (if available)
TreeFam:
Gene Tree for ZBTB38 (if available)

Paralogs for ZBTB38 Gene

Paralogs for ZBTB38 Gene

genes like me logo Genes that share paralogs with ZBTB38: view

Variants for ZBTB38 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for ZBTB38 Gene

ZBT38_HUMAN-Q8NAP3
Genetic variations in ZBTB38 define the stature quantitative trait locus 10 (STQTL10) [MIM:612221]. Adult height is an easily observable and highly heritable complex continuous trait. Because of this, it is a model trait for studying genetic influence on quantitative traits.

Sequence variations from dbSNP and Humsavar for ZBTB38 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs10454218 -- 141,330,566(+) TCAGG(A/G)ACCTT intron-variant
rs1045970 -- 141,448,109(+) TCAAA(G/T)ACATT utr-variant-3-prime
rs10513136 -- 141,388,770(+) AATGC(A/G)GTCTT intron-variant
rs10513137 -- 141,424,588(-) TTTAG(C/T)TGCAT intron-variant, upstream-variant-2KB
rs10575001 -- 141,378,362(+) CAGGT(-/ACAC)ACACA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ZBTB38 Gene

Variant ID Type Subtype PubMed ID
nsv829744 CNV loss 17160897
nsv819098 CNV loss 19587683
nsv591893 CNV loss 21841781
nsv460871 CNV loss 19166990
esv3597977 CNV loss 21293372
esv3597976 CNV loss 21293372
esv3597975 CNV gain 21293372
esv3562635 CNV deletion 23714750
esv3365800 CNV duplication 20981092
esv2678380 CNV deletion 23128226
esv2673630 CNV deletion 23128226
esv2662025 CNV deletion 23128226

Variation tolerance for ZBTB38 Gene

Residual Variation Intolerance Score: 12% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.17; 75.82% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ZBTB38 Gene

Human Gene Mutation Database (HGMD)
ZBTB38
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ZBTB38

Disorders for ZBTB38 Gene

MalaCards: The human disease database

(2) MalaCards diseases for ZBTB38 Gene - From: DISEASES

Disorder Aliases PubMed IDs
kuru
  • kuru, susceptibility to
mature teratoma
  • dermoid cyst
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for ZBTB38

Genetic Association Database (GAD)
ZBTB38
Human Genome Epidemiology (HuGE) Navigator
ZBTB38
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ZBTB38
genes like me logo Genes that share disorders with ZBTB38: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ZBTB38 Gene

Publications for ZBTB38 Gene

  1. The RBBP6/ZBTB38/MCM10 axis regulates DNA replication and common fragile site stability. (PMID: 24726359) Miotto B. … Defossez P.A. (Cell Rep 2014) 2 3 4 64
  2. Genome-wide association analysis identifies 20 loci that influence adult height. (PMID: 18391952) Weedon M.N. … Frayling T.M. (Nat. Genet. 2008) 3 4 46 64
  3. Kaiso directs the transcriptional corepressor MTG16 to the Kaiso binding site in target promoters. (PMID: 23251453) Barrett C.W. … Williams C.S. (PLoS ONE 2012) 3 4 64
  4. Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP. (PMID: 22210626) Mead S. … Collinge J. (Hum. Mol. Genet. 2012) 3 46 64
  5. Alternative splicing of human height-related zinc finger and BTB domain-containing 38 gene through Alu exonization. (PMID: 21188497) Hong K.W. … Oh B. (Biochem. Genet. 2011) 2 3 64

Products for ZBTB38 Gene

Sources for ZBTB38 Gene

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