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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. GO annotations related to this gene include nucleic acid binding.

UniProtKB/Swiss-Prot for ZBTB40 Gene

  • May be involved in transcriptional regulation.

Gene Wiki entry for ZBTB40 Gene

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

Genomics for ZBTB40 Gene

Regulatory Elements for ZBTB40 Gene

Enhancers for ZBTB40 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
GH01F022037 1.4 FANTOM5 Ensembl ENCODE 13.3 -387.3 -387349 8.6 HDGF PKNOX1 CREB3L1 ARID4B ZNF121 GATA2 ZNF416 MIER2 REST ZNF623 LINC00339 ZBTB40 ZBTB40-IT1 NBPF2P HSPG2 LINC01635 CDC42-IT1 USP48 GC01M022038 CDC42
GH01F022486 0.2 Ensembl 12.4 +58.6 58563 2.4 BCOR HDAC1 ESRRA TAL1 ZMYM3 ZNF316 NCOR1 GATA2 ADNP TRIM24 ZBTB40 WNT4 GC01P022509 PIR59957
GH01F022450 0.8 ENCODE 11.1 +23.0 22994 3.3 CREB3L1 MLX DMAP1 YY1 ZNF143 SP3 NFYC TBX21 MEF2D ZNF610 LINC01355 LDLRAD2 ZNF436-AS1 CDC42-IT1 ZBTB40 ZBTB40-IT1 ENSG00000271428 WNT4 TCEA3 PIR59957
GH01F022018 1.5 FANTOM5 Ensembl ENCODE 8.3 -409.1 -409138 2.6 HDGF PKNOX1 ATF1 WRNIP1 SIN3A ELK1 FOS KDM4B JUNB NCOA1 LINC00339 HSPG2 WNT4 NBPF2P CDC42 ZBTB40 LINC01635 RNU6-776P
GH01F022446 0.9 Ensembl ENCODE 8 +19.6 19611 2.9 BCOR PKNOX1 ZMYM3 UBTF ZIC2 RAD21 ZFHX2 NCOR1 POLR2A ADNP WNT4 ZBTB40 PIR59957
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around ZBTB40 on UCSC Golden Path with GeneCards custom track

Genomic Location for ZBTB40 Gene

Chromosome:
1
Start:
22,428,838 bp from pter
End:
22,531,157 bp from pter
Size:
102,320 bases
Orientation:
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:
    Q9NUA8-ZBT40_HUMAN
    Recommended name:
    Zinc finger and BTB domain-containing protein 40
    Protein Accession:
    Q9NUA8
    Secondary Accessions:
    • O75066
    • Q5TFU5
    • Q8N1R1

    Protein attributes for ZBTB40 Gene

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

    Alternative splice isoforms for ZBTB40 Gene

    UniProtKB/Swiss-Prot:

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

Graphical View of Domain Structure for InterPro Entry

Q9NUA8

UniProtKB/Swiss-Prot:

ZBT40_HUMAN :
  • Contains 1 BTB (POZ) domain.
  • Belongs to the krueppel C2H2-type zinc-finger protein family.
  • Contains 12 C2H2-type zinc fingers.
Domain:
  • Contains 1 BTB (POZ) domain.
Family:
  • Belongs to the krueppel C2H2-type zinc-finger protein family.
Similarity:
  • Contains 12 C2H2-type zinc fingers.
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.

Gene Ontology (GO) - Molecular Function for ZBTB40 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
GO:0046872 metal ion 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

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 ZBTB40 Gene

Localization for ZBTB40 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ZBTB40 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ZBTB40 Gene COMPARTMENTS Subcellular localization image for ZBTB40 gene
Compartment Confidence
nucleus 5

Gene Ontology (GO) - Cellular Components for ZBTB40 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 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: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

Transcripts for ZBTB40 Gene

Unigene Clusters for ZBTB40 Gene

Zinc finger and BTB domain containing 40:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry 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: -
SP3:
SP4:

Relevant External Links for ZBTB40 Gene

GeneLoc Exon Structure for
ZBTB40
ECgene alternative splicing isoforms for
ZBTB40

Expression for ZBTB40 Gene

mRNA expression in normal human tissues 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, PaxDb, MaxQB, and MOPED for ZBTB40 Gene



NURSA nuclear receptor signaling pathways regulating expression of ZBTB40 Gene:

ZBTB40

SOURCE GeneReport for Unigene cluster for ZBTB40 Gene:

Hs.418966
genes like me logo Genes that share expression patterns with ZBTB40: view

Primer Products

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 and mRNA Expression by UniProt/SwissProt 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
chimpanzee
(Pan troglodytes)
Mammalia ZBTB40 34 35
  • 99.19 (n)
dog
(Canis familiaris)
Mammalia ZBTB40 34 35
  • 88.32 (n)
cow
(Bos Taurus)
Mammalia ZBTB40 34 35
  • 85.98 (n)
rat
(Rattus norvegicus)
Mammalia Zbtb40 34
  • 82.26 (n)
mouse
(Mus musculus)
Mammalia Zbtb40 34 16 35
  • 82.08 (n)
oppossum
(Monodelphis domestica)
Mammalia ZBTB40 35
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ZBTB40 35
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves ZBTB40 34 35
  • 69.22 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia zbtb40 34
  • 62.98 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC571158 34
  • 52.23 (n)
ZBTB40 35
  • 40 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG10321 35
  • 19 (a)
OneToOne
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

ENSEMBL:
Gene Tree for ZBTB40 (if available)
TreeFam:
Gene Tree for ZBTB40 (if available)

Paralogs for ZBTB40 Gene

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

No data available for Paralogs for ZBTB40 Gene

Variants for ZBTB40 Gene

Sequence variations from dbSNP and Humsavar for ZBTB40 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1001547 -- 22,469,779(-) caggc(A/G)gtcat intron-variant
rs1009444 -- 22,521,838(+) GGCAG(C/T)GGTTC intron-variant
rs1011380 -- 22,479,788(-) ggtag(C/T)agtta intron-variant
rs10218680 -- 22,448,624(+) tttac(C/G)ccctc intron-variant
rs104861 -- 22,518,458(-) CTTGT(C/G)ACCaa intron-variant

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

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

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)

Relevant External Links for ZBTB40 Gene

Human Gene Mutation Database (HGMD)
ZBTB40
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ZBTB40

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

Disorders for ZBTB40 Gene

Relevant External Links for ZBTB40

Genetic Association Database (GAD)
ZBTB40
Human Genome Epidemiology (HuGE) Navigator
ZBTB40
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ZBTB40

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 J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  2. Analysis of recently identified osteoporosis susceptibility genes in Han Chinese women. (PMID: 20554715) Liu J.M. … Ning G. (J. Clin. Endocrinol. Metab. 2010) 3 46 64
  3. Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies. (PMID: 19801982) Rivadeneira F. … Uitterlinden A.G. (Nat. Genet. 2009) 3 46 64
  4. Multiple genetic loci for bone mineral density and fractures. (PMID: 18445777) Styrkarsdottir U. … Stefansson K. (N. Engl. J. Med. 2008) 3 46 64
  5. ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage. (PMID: 17525332) Matsuoka S. … Elledge S.J. (Science 2007) 3 4 64

Products for ZBTB40 Gene

Sources for ZBTB40 Gene

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