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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 Stature Quantitative Trait Locus 10 and Kuru. Gene Ontology (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).

Additional gene information for ZBTB38 Gene

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

Genomics for ZBTB38 Gene

GeneHancer (GH) Regulatory Elements for ZBTB38 Gene

Promoters and enhancers for ZBTB38 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
GH03I141398 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 557.8 +83.9 83886 18.6 HDGF PKNOX1 FOXA2 SMAD1 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZBTB38 YWHAQP6 RASA2 SLC25A36 ENSG00000249417 KRT18P35
GH03I141382 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 569.7 +62.3 62261 7.7 PKNOX1 FOXA2 SMAD1 FEZF1 ZNF766 ZNF213 ATF7 RUNX3 ATF4 MAFF ZBTB38 RASA2 PXYLP1 YWHAQP6 ENSG00000249417 KRT18P35
GH03I141364 Promoter/Enhancer 1.8 Ensembl ENCODE dbSUPER 16.5 +43.7 43723 7.1 MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF143 NFYC MEF2D GLIS1 RCOR2 ENSG00000249417 RASA2 GK5 ZBTB38 YWHAQP6 KRT18P35 PXYLP1
GH03I141453 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 16.6 +131.8 131784 4.2 PKNOX1 FOXA2 ARID4B NEUROD1 SIN3A ZBTB7B TCF12 ZNF143 ATF7 MXD4 ZBTB38 RASA2 KRT18P35 ENSG00000249417
GH03I141390 Enhancer 1.2 Ensembl ENCODE dbSUPER 18.8 +68.4 68413 3.6 KLF17 MZF1 SIN3A FEZF1 RARA ZNF121 ZNF366 RCOR1 ZNF362 RXRA ZBTB38 YWHAQP6 RASA2 GK5 ENSG00000249417 KRT18P35
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ZBTB38 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ZBTB38 gene promoter:

Genomic Locations for ZBTB38 Gene

Genomic Locations for ZBTB38 Gene
chr3:141,324,213-141,449,792
(GRCh38/hg38)
Size:
125,580 bases
Orientation:
Plus strand
chr3:141,043,055-141,168,634
(GRCh37/hg19)

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.

No data available for DME Specific Peptides for ZBTB38 Gene

Domains & Families for ZBTB38 Gene

Gene Families for ZBTB38 Gene

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

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.
Domain:
  • The BTB domain is not required for activation of transcription or self-association.
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).

Phenotypes From GWAS Catalog for ZBTB38 Gene

Gene Ontology (GO) - Molecular Function for ZBTB38 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003700 DNA binding transcription factor activity 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

Clone 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

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ZBTB38 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS --
GO:0005654 nucleoplasm IDA --
GO:0005694 chromosome IEA --
GO:0072562 blood microparticle IDA,HDA 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

Drugs & Compounds for ZBTB38 Gene

No Compound Related Data Available

Transcripts for ZBTB38 Gene

Unigene Clusters for ZBTB38 Gene

Zinc finger and BTB domain containing 38:
Representative Sequences:

Clone 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 CGAP 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

Evidence on tissue expression from TISSUES for ZBTB38 Gene

  • Nervous system(3.9)
genes like me logo Genes that share expression patterns with ZBTB38: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 34
  • 99.47 (n)
dog
(Canis familiaris)
Mammalia ZBTB38 33 34
  • 87.42 (n)
cow
(Bos Taurus)
Mammalia ZBTB38 33 34
  • 87.3 (n)
mouse
(Mus musculus)
Mammalia Zbtb38 33 16 34
  • 82.28 (n)
rat
(Rattus norvegicus)
Mammalia Zbtb38 33
  • 82.06 (n)
oppossum
(Monodelphis domestica)
Mammalia ZBTB38 34
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ZBTB38 34
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves ZBTB38 33 34
  • 68.64 (n)
lizard
(Anolis carolinensis)
Reptilia ZBTB38 34
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia zbtb38 33
  • 56.84 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC101882192 33
  • 50.84 (n)
zbtb38 34
  • 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 Variation AA Info Type
rs1000007375 -- 141,368,484(+) C/G/T genic_upstream_transcript_variant, intron_variant
rs1000024639 -- 141,377,641(+) T/G genic_upstream_transcript_variant, intron_variant
rs1000035247 -- 141,330,418(+) GGGGG/GGG genic_upstream_transcript_variant, intron_variant
rs1000108057 -- 141,407,390(+) T/G genic_upstream_transcript_variant, intron_variant
rs1000109564 -- 141,423,880(+) A/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_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)

Additional Variant Information 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

(5) MalaCards diseases for ZBTB38 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
stature quantitative trait locus 10
  • stqtl10
kuru
  • kuru, susceptibility to
fatal familial insomnia
  • ffi
mutism
mature teratoma
  • dermoid cyst
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ZBTB38

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 PA (Cell reports 2014) 2 3 4 58
  2. Genome-wide association analysis identifies 20 loci that influence adult height. (PMID: 18391952) Weedon MN … Frayling TM (Nature genetics 2008) 3 4 44 58
  3. Kaiso directs the transcriptional corepressor MTG16 to the Kaiso binding site in target promoters. (PMID: 23251453) Barrett CW … Williams CS (PloS one 2012) 3 4 58
  4. Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP. (PMID: 22210626) Mead S … Collinge J (Human molecular genetics 2012) 3 44 58
  5. Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry. (PMID: 21998595) N'Diaye A … Haiman CA (PLoS genetics 2011) 3 44 58

Products for ZBTB38 Gene

Sources for ZBTB38 Gene

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