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Aliases for ZBTB40 Gene

Aliases for ZBTB40 Gene

  • Zinc Finger And BTB Domain Containing 40 2 3 5
  • Zinc Finger And BTB Domain-Containing Protein 40 3
  • KIAA0478 4
  • ZNF923 3

External Ids for ZBTB40 Gene

Previous GeneCards Identifiers for ZBTB40 Gene

  • GC01P022524
  • GC01P022650
  • GC01P022778
  • GC01P021021
  • GC01P022453

Summaries for ZBTB40 Gene

GeneCards Summary for ZBTB40 Gene

ZBTB40 (Zinc Finger And BTB Domain Containing 40) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include nucleic acid binding. An important paralog of this gene is ZNF699.

UniProtKB/Swiss-Prot for ZBTB40 Gene

  • May be involved in transcriptional regulation.

Gene Wiki entry for ZBTB40 Gene

Additional gene information for ZBTB40 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ZBTB40 Gene

Genomics for ZBTB40 Gene

GeneHancer (GH) Regulatory Elements for ZBTB40 Gene

Promoters and enhancers for ZBTB40 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J022450 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 683.8 +23.0 22993 3.3 CLOCK MLX DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 ZNF263 SP3 ZBTB40 PIR59957 USP48 CDC42-IT1 KDM1A LINC01355 HNRNPR ENSG00000271428 WNT4
GH01J022428 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 650.7 +0.1 71 1.3 ELF3 FOXA2 ARID4B SIN3A DMAP1 ETS1 ZNF143 FOS CREM THAP11 ZBTB40 PIR59957
GH01J022023 Promoter/Enhancer 1.8 Ensembl ENCODE dbSUPER 84.6 -403.1 -403100 3.8 FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 ZNF263 SP3 MEF2D LINC00339 LINC01635 ZBTB40 CDC42-IT1 KDM1A USP48 ENSG00000271428 NBPF3 HSPG2 CDC42
GH01J021779 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 58.3 -646.3 -646304 6.2 MLX DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 MEF2D USP48 ZBTB40 CDC42-IT1 HP1BP3 ENSG00000271428 NBPF3 CDC42 EIF4G3 NBPF2P ZBTB40-IT1
GH01J022051 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 55.4 -375.5 -375531 3.1 MLX DMAP1 IRF4 YY1 ZNF213 E2F8 SP3 NFYC MEF2D ZNF610 CDC42 ZBTB40 KDM1A USP48 LINC00339 CDC42-IT1 NBPF3 ENSG00000271428 NBPF2P LINC01635
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ZBTB40 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ZBTB40 gene promoter:
  • MEF-2A
  • aMEF-2
  • Meis-1b
  • Meis-1a
  • Meis-1
  • ARP-1
  • c-Myc
  • Max
  • Pax-6
  • TGIF

Genomic Locations for ZBTB40 Gene

Genomic Locations for ZBTB40 Gene
102,320 bases
Plus strand
79,307 bases
Plus strand

Genomic View for ZBTB40 Gene

Genes around ZBTB40 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZBTB40 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ZBTB40 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZBTB40 Gene

Proteins for ZBTB40 Gene

  • Protein details for ZBTB40 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Zinc finger and BTB domain-containing protein 40
    Protein Accession:
    Secondary Accessions:
    • O75066
    • Q5TFU5
    • Q8N1R1

    Protein attributes for ZBTB40 Gene

    1239 amino acids
    Molecular mass:
    138118 Da
    Quaternary structure:
    No Data Available
    • Sequence=BAA32323.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for ZBTB40 Gene


neXtProt entry for ZBTB40 Gene

Post-translational modifications for ZBTB40 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ZBTB40 Gene

Domains & Families for ZBTB40 Gene

Gene Families for ZBTB40 Gene

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

Protein Domains for ZBTB40 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the krueppel C2H2-type zinc-finger protein family.
  • Belongs to the krueppel C2H2-type zinc-finger protein family.
genes like me logo Genes that share domains with ZBTB40: view

Function for ZBTB40 Gene

Molecular function for ZBTB40 Gene

UniProtKB/Swiss-Prot Function:
May be involved in transcriptional regulation.

Phenotypes From GWAS Catalog for ZBTB40 Gene

Gene Ontology (GO) - Molecular Function for ZBTB40 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding ISA --
GO:0003674 molecular_function ND --
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with ZBTB40: view
genes like me logo Genes that share phenotypes with ZBTB40: view

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ZBTB40 Gene

Localization for ZBTB40 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ZBTB40 Gene

Subcellular locations from

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 ZBTB40 gene
Compartment Confidence
nucleus 5

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ZBTB40 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 15302935
genes like me logo Genes that share ontologies with ZBTB40: view

Pathways & Interactions for ZBTB40 Gene

SuperPathways for ZBTB40 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ZBTB40 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IEA --
GO:0006974 cellular response to DNA damage stimulus IDA 17525332
GO:0030282 bone mineralization NAS 20554715
genes like me logo Genes that share ontologies with ZBTB40: view

No data available for Pathways by source and SIGNOR curated interactions for ZBTB40 Gene

Drugs & Compounds for ZBTB40 Gene

No Compound Related Data Available

Transcripts for ZBTB40 Gene

mRNA/cDNA for ZBTB40 Gene

Unigene Clusters for ZBTB40 Gene

Zinc finger and BTB domain containing 40:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ZBTB40 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21
SP1: - - - -
SP2: -

Relevant External Links for ZBTB40 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ZBTB40 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ZBTB40 Gene

Protein differential expression in normal tissues from HIPED for ZBTB40 Gene

This gene is overexpressed in Plasma (17.9), Oral epithelium (11.8), Gallbladder (7.6), Fetal Liver (7.5), Pancreas (6.9), and Fetal testis (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ZBTB40 Gene

NURSA nuclear receptor signaling pathways regulating expression of ZBTB40 Gene:


SOURCE GeneReport for Unigene cluster for ZBTB40 Gene:


Evidence on tissue expression from TISSUES for ZBTB40 Gene

  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with ZBTB40: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ZBTB40 Gene

Orthologs for ZBTB40 Gene

This gene was present in the common ancestor of animals.

Orthologs for ZBTB40 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ZBTB40 34 33
  • 99.19 (n)
(Canis familiaris)
Mammalia ZBTB40 34 33
  • 88.32 (n)
(Bos Taurus)
Mammalia ZBTB40 34 33
  • 85.98 (n)
(Rattus norvegicus)
Mammalia Zbtb40 33
  • 82.26 (n)
(Mus musculus)
Mammalia Zbtb40 16 34 33
  • 82.08 (n)
(Monodelphis domestica)
Mammalia ZBTB40 34
  • 69 (a)
(Ornithorhynchus anatinus)
Mammalia ZBTB40 34
  • 68 (a)
(Gallus gallus)
Aves ZBTB40 34 33
  • 69.22 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia zbtb40 33
  • 62.98 (n)
(Danio rerio)
Actinopterygii LOC571158 33
  • 52.23 (n)
ZBTB40 34
  • 40 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG10321 34
  • 19 (a)
Species where no ortholog for ZBTB40 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)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • 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 ZBTB40 Gene

Gene Tree for ZBTB40 (if available)
Gene Tree for ZBTB40 (if available)
Evolutionary constrained regions (ECRs) for ZBTB40: view image

Paralogs for ZBTB40 Gene

Paralogs for ZBTB40 Gene

genes like me logo Genes that share paralogs with ZBTB40: view

Variants for ZBTB40 Gene

Sequence variations from dbSNP and Humsavar for ZBTB40 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000091543 -- 22,491,716(+) C/T genic_upstream_transcript_variant, intron_variant
rs1000113247 -- 22,468,281(+) C/T genic_upstream_transcript_variant, intron_variant
rs1000120516 -- 22,509,348(+) T/G 5_prime_UTR_variant, intron_variant
rs1000132416 -- 22,442,401(+) T/C genic_upstream_transcript_variant, intron_variant
rs1000161790 -- 22,439,465(+) T/G genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ZBTB40 Gene

Variant ID Type Subtype PubMed ID
nsv819803 CNV gain 19587683
nsv6298 CNV deletion 18451855
nsv506921 OTHER sequence alteration 20534489
esv3585469 CNV loss 21293372
esv3401180 CNV insertion 20981092
dgv131n100 CNV gain 25217958

Variation tolerance for ZBTB40 Gene

Residual Variation Intolerance Score: 7.06% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.50; 64.53% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ZBTB40 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZBTB40 Gene

Disorders for ZBTB40 Gene

Additional Disease Information for ZBTB40

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for ZBTB40 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ZBTB40 Gene

Publications for ZBTB40 Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  2. Analysis of recently identified osteoporosis susceptibility genes in Han Chinese women. (PMID: 20554715) Liu JM … Ning G (The Journal of clinical endocrinology and metabolism 2010) 3 44 58
  3. Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies. (PMID: 19801982) Rivadeneira F … Genetic Factors for Osteoporosis (GEFOS) Consortium (Nature genetics 2009) 3 44 58
  4. Multiple genetic loci for bone mineral density and fractures. (PMID: 18445777) Styrkarsdottir U … Stefansson K (The New England journal of medicine 2008) 3 44 58
  5. ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage. (PMID: 17525332) Matsuoka S … Elledge SJ (Science (New York, N.Y.) 2007) 3 4 58

Products for ZBTB40 Gene

Sources for ZBTB40 Gene

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