Aliases for ZBTB43 Gene

Aliases for ZBTB43 Gene

  • Zinc Finger And BTB Domain Containing 43 2 3 5
  • Zinc Finger Protein 297B 2 3 4
  • ZBTB22B 2 3 4
  • Zinc Finger And BTB Domain-Containing Protein 22B 3 4
  • Zinc Finger And BTB Domain-Containing Protein 43 3 4
  • KIAA0414 2 4
  • ZNF297B 3 4
  • ZNF-X 2 3
  • FLJ22470 2
  • ZBTB43 5
  • ZnF-X 4

External Ids for ZBTB43 Gene

Previous HGNC Symbols for ZBTB43 Gene

  • ZNF297B

Previous GeneCards Identifiers for ZBTB43 Gene

  • GC09P128607
  • GC09P129567
  • GC09P099180

Summaries for ZBTB43 Gene

GeneCards Summary for ZBTB43 Gene

ZBTB43 (Zinc Finger And BTB Domain Containing 43) is a Protein Coding gene. Diseases associated with ZBTB43 include Diamond-Blackfan Anemia 4 and Hemochromatosis Type 2. An important paralog of this gene is ZBTB5.

UniProtKB/Swiss-Prot Summary for ZBTB43 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ZBTB43 Gene

Genomics for ZBTB43 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ZBTB43 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
GH09J126804 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 257.8 +2.0 2029 3.8 TBP ZBTB10 SP1 CEBPA NR2C1 MNT DEK IKZF1 SMAD5 ETS1 ZBTB43 HSALNG0074460 lnc-ANGPTL2-9 ZBTB34 RALGPS1 RF00994-1155
GH09J126819 Promoter/Enhancer 0.9 EPDnew Ensembl 250.4 +15.3 15329 0.8 BCL11A TRIM22 IRF4 BATF ATF2 JUNB ARID3A ATF7 TARDBP MTA2 ZBTB43 ZBTB34 RF00994-1155 HSALNG0074460
GH09J126802 Enhancer 0.7 Ensembl ENCODE 254.8 -1.6 -1571 1 CEBPA CEBPB RXRA TCF7L2 ZNF217 FOXA1 HNF4A CEBPG SP1 CHD1 ZBTB43 HSALNG0074458 LMX1B
GH09J126325 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.3 -477.0 -476968 3.2 VEZF1 GABPB1 MAZ ZBTB48 MAX ZNF189 CTCF HBP1 TAF1 BHLHE40 MVB12B HSALNG0074438 ZBTB43 ENSG00000252985 piR-41195-127 LMX1B
GH09J126841 Enhancer 0.9 Ensembl ENCODE 16.1 +39.2 39224 3.2 BHLHE40 ZNF395 TAL1 EBF1 JUND TCF12 L3MBTL2 DPF2 POLR2A ZFX ZBTB43 HSALNG0074464 RF00017-7917 ZBTB34
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ZBTB43 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ZBTB43

Top Transcription factor binding sites by QIAGEN in the ZBTB43 gene promoter:
  • c-Ets-1
  • CP2
  • FOXO1
  • FOXO1a
  • FOXO4
  • NCX
  • RORalpha1
  • SRF
  • SRF (504 AA)
  • TGIF

Genomic Locations for ZBTB43 Gene

Latest Assembly
chr9:126,804,072-126,838,210
(GRCh38/hg38)
Size:
34,139 bases
Orientation:
Plus strand

Previous Assembly
chr9:129,567,319-129,600,489
(GRCh37/hg19 by Entrez Gene)
Size:
33,171 bases
Orientation:
Plus strand

chr9:129,567,285-129,600,489
(GRCh37/hg19 by Ensembl)
Size:
33,205 bases
Orientation:
Plus strand

Genomic View for ZBTB43 Gene

Genes around ZBTB43 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZBTB43 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ZBTB43 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZBTB43 Gene

Proteins for ZBTB43 Gene

  • Protein details for ZBTB43 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43298-ZBT43_HUMAN
    Recommended name:
    Zinc finger and BTB domain-containing protein 43
    Protein Accession:
    O43298
    Secondary Accessions:
    • Q5JU96

    Protein attributes for ZBTB43 Gene

    Size:
    467 amino acids
    Molecular mass:
    52630 Da
    Quaternary structure:
    • Interacts with BDP1.
    SequenceCaution:
    • Sequence=BAA24844.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ZBTB43 Gene

neXtProt entry for ZBTB43 Gene

Post-translational modifications for ZBTB43 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ZBTB43 Gene

Domains & Families for ZBTB43 Gene

Gene Families for ZBTB43 Gene

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

Protein Domains for ZBTB43 Gene

InterPro:
Blocks:
  • C2H2-type zinc finger signature
  • BTB/POZ domain
ProtoNet:

Suggested Antigen Peptide Sequences for ZBTB43 Gene

GenScript: Design optimal peptide antigens:
  • Zinc finger protein 297B (Q5JU96_HUMAN)
  • Zinc finger and BTB domain containing 43 (Q5JU97_HUMAN)
  • ZnF-x (ZBT43_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O43298

UniProtKB/Swiss-Prot:

ZBT43_HUMAN :
  • Belongs to the krueppel C2H2-type zinc-finger protein family.
Family:
  • Belongs to the krueppel C2H2-type zinc-finger protein family.
genes like me logo Genes that share domains with ZBTB43: view

Function for ZBTB43 Gene

Molecular function for ZBTB43 Gene

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

Phenotypes From GWAS Catalog for ZBTB43 Gene

Gene Ontology (GO) - Molecular Function for ZBTB43 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IBA 21873635
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISA --
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IPI 16189514
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ZBTB43: view
genes like me logo Genes that share phenotypes with ZBTB43: view

Animal Models for ZBTB43 Gene

MGI Knock Outs for ZBTB43:
  • Zbtb43 Zbtb43<tm1b(KOMP)Mbp>

miRNA for ZBTB43 Gene

miRTarBase miRNAs that target ZBTB43

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZBTB43

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ZBTB43 Gene

Localization for ZBTB43 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ZBTB43 Gene

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 ZBTB43 gene
Compartment Confidence
nucleus 5
cytosol 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ZBTB43 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin ISA --
GO:0005634 nucleus IBA 21873635
genes like me logo Genes that share ontologies with ZBTB43: view

Pathways & Interactions for ZBTB43 Gene

PathCards logo

SuperPathways for ZBTB43 Gene

No Data Available

SIGNOR curated interactions for ZBTB43 Gene

Other effect:

Gene Ontology (GO) - Biological Process for ZBTB43 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006357 regulation of transcription by RNA polymerase II IBA 21873635
genes like me logo Genes that share ontologies with ZBTB43: view

No data available for Pathways by source for ZBTB43 Gene

Drugs & Compounds for ZBTB43 Gene

No Compound Related Data Available

Transcripts for ZBTB43 Gene

mRNA/cDNA for ZBTB43 Gene

2 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZBTB43

Alternative Splicing Database (ASD) splice patterns (SP) for ZBTB43 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b · 6c · 6d
SP1: - - -
SP2: -
SP3: -
SP4:
SP5: - -

Relevant External Links for ZBTB43 Gene

GeneLoc Exon Structure for
ZBTB43

Expression for ZBTB43 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ZBTB43 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ZBTB43 Gene

This gene is overexpressed in Muscle - Skeletal (x6.1).

Protein differential expression in normal tissues from HIPED for ZBTB43 Gene

This gene is overexpressed in Testis (51.6) and Pancreas (13.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ZBTB43 Gene



Protein tissue co-expression partners for ZBTB43 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ZBTB43

SOURCE GeneReport for Unigene cluster for ZBTB43 Gene:

Hs.355581

Evidence on tissue expression from TISSUES for ZBTB43 Gene

  • Muscle(4.4)
  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with ZBTB43: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ZBTB43 Gene

Orthologs for ZBTB43 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ZBTB43 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ZBTB43 30 31
  • 99.79 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ZBTB43 30 31
  • 93.93 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ZBTB43 30
  • 92.7 (n)
ZNF297B 31
  • 92 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ZBTB43 31
  • 91 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Zbtb43 30
  • 89.01 (n)
Mouse
(Mus musculus)
Mammalia Zbtb43 30 17 31
  • 88.51 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ZBTB43 31
  • 86 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ZBTB43 30 31
  • 79.02 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ZBTB43 31
  • 83 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia zbtb43 30
  • 71.05 (n)
Zebrafish
(Danio rerio)
Actinopterygii zbtb43 30 31
  • 59.34 (n)
OneToOne
Species where no ortholog for ZBTB43 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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 ZBTB43 Gene

ENSEMBL:
Gene Tree for ZBTB43 (if available)
TreeFam:
Gene Tree for ZBTB43 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ZBTB43: view image

Paralogs for ZBTB43 Gene

Paralogs for ZBTB43 Gene

(7) SIMAP similar genes for ZBTB43 Gene using alignment to 2 proteins:

  • ZBT43_HUMAN
  • Q5JU97_HUMAN
genes like me logo Genes that share paralogs with ZBTB43: view

Variants for ZBTB43 Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ZBTB43 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for ZBTB43 Gene

Variant ID Type Subtype PubMed ID
dgv4140n106 CNV tandem duplication 24896259
esv1064562 CNV insertion 17803354
esv3302511 CNV tandem duplication 20981092
esv3306066 CNV mobile element insertion 20981092
esv3323931 CNV duplication 20981092
esv3335630 CNV insertion 20981092
esv3355530 CNV insertion 20981092
esv3576707 CNV gain 25503493
esv3621766 CNV gain 21293372
nsv831724 CNV gain 17160897

Variation tolerance for ZBTB43 Gene

Residual Variation Intolerance Score: 28.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.84; 17.53% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ZBTB43 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ZBTB43

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ZBTB43 Gene

Disorders for ZBTB43 Gene

MalaCards: The human disease database

(2) MalaCards diseases for ZBTB43 Gene - From: COP

Disorder Aliases PubMed IDs
diamond-blackfan anemia 4
  • dba4
hemochromatosis type 2
  • hfe2
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ZBTB43

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with ZBTB43: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ZBTB43 Gene

Publications for ZBTB43 Gene

  1. Detecting rare variants for complex traits using family and unrelated data. (PMID: 19847924) Zhu X … Elston RC (Genetic epidemiology 2010) 3 41
  2. The zinc finger protein ZNF297B interacts with BDP1, a subunit of TFIIIB. (PMID: 16542149) Schoenen F … Wirth B (Biological chemistry 2006) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro. (PMID: 9455477) Ishikawa K … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1997) 3 4
  5. Interactome Mapping Provides a Network of Neurodegenerative Disease Proteins and Uncovers Widespread Protein Aggregation in Affected Brains. (PMID: 32814053) Haenig C … Wanker EE (Cell reports 2020) 3

Products for ZBTB43 Gene

Sources for ZBTB43 Gene