This gene encodes a protein similar to a protein in rodents which is induced by bone morphogenic protein 2 in vitro. [provided by RefSeq, Aug 2011] See more...

Aliases for ZBTB24 Gene

Aliases for ZBTB24 Gene

  • Zinc Finger And BTB Domain Containing 24 2 3 5
  • Zinc Finger Protein 450 2 3 4
  • Zinc Finger And BTB Domain-Containing Protein 24 3 4
  • POZ (BTB) And AT Hook Containing Zinc Finger 2 2 3
  • KIAA0441 2 4
  • ZNF450 3 4
  • PATZ2 2 3
  • BIF1 2 3
  • ZBTB24 5
  • ICF2 3

External Ids for ZBTB24 Gene

Previous HGNC Symbols for ZBTB24 Gene

  • ZNF450

Previous GeneCards Identifiers for ZBTB24 Gene

  • GC06M109830
  • GC06M109890
  • GC06M109784
  • GC06M107349

Summaries for ZBTB24 Gene

Entrez Gene Summary for ZBTB24 Gene

  • This gene encodes a protein similar to a protein in rodents which is induced by bone morphogenic protein 2 in vitro. [provided by RefSeq, Aug 2011]

GeneCards Summary for ZBTB24 Gene

ZBTB24 (Zinc Finger And BTB Domain Containing 24) is a Protein Coding gene. Diseases associated with ZBTB24 include Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 and Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome. An important paralog of this gene is ZNF160.

UniProtKB/Swiss-Prot Summary for ZBTB24 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ZBTB24 Gene

Genomics for ZBTB24 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ZBTB24 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ZBTB24 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ZBTB24

Top Transcription factor binding sites by QIAGEN in the ZBTB24 gene promoter:
  • CREB
  • deltaCREB
  • HOXA9
  • HOXA9B
  • Meis-1
  • Meis-1b
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • SRF
  • SRF (504 AA)

Genomic Locations for ZBTB24 Gene

Genomic Locations for ZBTB24 Gene
chr6:109,462,594-109,483,237
(GRCh38/hg38)
Size:
20,644 bases
Orientation:
Minus strand
chr6:109,783,719-109,804,440
(GRCh37/hg19)
Size:
20,722 bases
Orientation:
Minus strand

Genomic View for ZBTB24 Gene

Genes around ZBTB24 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZBTB24 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ZBTB24 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZBTB24 Gene

Proteins for ZBTB24 Gene

  • Protein details for ZBTB24 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43167-ZBT24_HUMAN
    Recommended name:
    Zinc finger and BTB domain-containing protein 24
    Protein Accession:
    O43167
    Secondary Accessions:
    • Q17RC6
    • Q5TED5
    • Q8N455

    Protein attributes for ZBTB24 Gene

    Size:
    697 amino acids
    Molecular mass:
    78282 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA23713.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for ZBTB24 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ZBTB24 Gene

Post-translational modifications for ZBTB24 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ZBTB24 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ZBTB24 Gene

Domains & Families for ZBTB24 Gene

Gene Families for ZBTB24 Gene

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

Protein Domains for ZBTB24 Gene

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

Suggested Antigen Peptide Sequences for ZBTB24 Gene

GenScript: Design optimal peptide antigens:
  • Zinc finger protein 450 (ZBT24_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O43167

UniProtKB/Swiss-Prot:

ZBT24_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 ZBTB24: view

Function for ZBTB24 Gene

Molecular function for ZBTB24 Gene

UniProtKB/Swiss-Prot Function:
May be involved in BMP2-induced transcription.

Phenotypes From GWAS Catalog for ZBTB24 Gene

Gene Ontology (GO) - Molecular Function for ZBTB24 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000976 transcription regulatory region sequence-specific DNA binding IBA 21873635
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISM 19274049
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
GO:0003700 DNA-binding transcription factor activity IBA 21873635
genes like me logo Genes that share ontologies with ZBTB24: view
genes like me logo Genes that share phenotypes with ZBTB24: view

Human Phenotype Ontology for ZBTB24 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ZBTB24 Gene

MGI Knock Outs for ZBTB24:
  • Zbtb24 Zbtb24<tm1b(EUCOMM)Hmgu>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZBTB24

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ZBTB24 Gene

Localization for ZBTB24 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ZBTB24 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 ZBTB24 gene
Compartment Confidence
nucleus 4
cytoskeleton 1
endoplasmic reticulum 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centrosome (2)
  • Cytokinetic bridge (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ZBTB24 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IBA 21873635
genes like me logo Genes that share ontologies with ZBTB24: view

Pathways & Interactions for ZBTB24 Gene

PathCards logo

SuperPathways for ZBTB24 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ZBTB24 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IBA --
GO:0002244 hematopoietic progenitor cell differentiation IEA --
GO:0045944 positive regulation of transcription by RNA polymerase II IBA 21873635
genes like me logo Genes that share ontologies with ZBTB24: view

No data available for Pathways by source and SIGNOR curated interactions for ZBTB24 Gene

Drugs & Compounds for ZBTB24 Gene

No Compound Related Data Available

Transcripts for ZBTB24 Gene

mRNA/cDNA for ZBTB24 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZBTB24

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ZBTB24 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c
SP1: -
SP2: - -
SP3:
SP4:

Relevant External Links for ZBTB24 Gene

GeneLoc Exon Structure for
ZBTB24

Expression for ZBTB24 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ZBTB24 Gene

Protein differential expression in normal tissues from HIPED for ZBTB24 Gene

This gene is overexpressed in Lung (61.1) and Blymphocyte (7.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ZBTB24 Gene



Protein tissue co-expression partners for ZBTB24 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ZBTB24

SOURCE GeneReport for Unigene cluster for ZBTB24 Gene:

Hs.409876

mRNA Expression by UniProt/SwissProt for ZBTB24 Gene:

O43167-ZBT24_HUMAN
Tissue specificity: Widely expressed, with highest levels in naive B-cells.

Evidence on tissue expression from TISSUES for ZBTB24 Gene

  • Nervous system(4.3)
  • Eye(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ZBTB24 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cheek
  • chin
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • nose
  • outer ear
  • sinus
  • skull
  • tongue
Thorax:
  • bronchus
  • lung
Abdomen:
  • intestine
  • large intestine
  • small intestine
General:
  • blood
  • bone marrow
  • red blood cell
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with ZBTB24: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for ZBTB24 Gene

Orthologs for ZBTB24 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ZBTB24 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ZBTB24 30 31
  • 99.62 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ZBTB24 30 31
  • 91.71 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ZBTB24 30 31
  • 88.74 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Zbtb24 30
  • 84.61 (n)
Mouse
(Mus musculus)
Mammalia Zbtb24 30 17 31
  • 84.41 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ZBTB24 31
  • 82 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ZBTB24 31
  • 48 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ZBTB24 30 31
  • 72.95 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ZBTB24 31
  • 64 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia zbtb24 30
  • 64.15 (n)
Str.16056 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.7636 30
Zebrafish
(Danio rerio)
Actinopterygii zbtb24 30 31 31
  • 59 (n)
OneToMany
Species where no ortholog for ZBTB24 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 ZBTB24 Gene

ENSEMBL:
Gene Tree for ZBTB24 (if available)
TreeFam:
Gene Tree for ZBTB24 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ZBTB24: view image

Paralogs for ZBTB24 Gene

(9) SIMAP similar genes for ZBTB24 Gene using alignment to 1 proteins:

  • ZBT24_HUMAN
genes like me logo Genes that share paralogs with ZBTB24: view

Variants for ZBTB24 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ZBTB24 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
31095 Pathogenic: Immunodeficiency-centromeric instability-facial anomalies syndrome 2 109,481,194(-) G/C NONSENSE
40181 Pathogenic: Immunodeficiency-centromeric instability-facial anomalies syndrome 2 109,481,629(-) CTA/C FRAMESHIFT_VARIANT
640298 Uncertain Significance: Immunodeficiency-centromeric instability-facial anomalies syndrome 2 109,467,701(-) T/C MISSENSE_VARIANT
640347 Uncertain Significance: Immunodeficiency-centromeric instability-facial anomalies syndrome 2 109,481,671(-) T/C MISSENSE_VARIANT
644907 Uncertain Significance: Immunodeficiency-centromeric instability-facial anomalies syndrome 2 109,481,265(-) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for ZBTB24 Gene

Structural Variations from Database of Genomic Variants (DGV) for ZBTB24 Gene

Variant ID Type Subtype PubMed ID
esv3610337 CNV loss 21293372
esv3610338 CNV gain 21293372
nsv1074953 CNV deletion 25765185
nsv1153690 CNV duplication 26484159
nsv510045 OTHER sequence alteration 20534489

Variation tolerance for ZBTB24 Gene

Residual Variation Intolerance Score: 11.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.12; 61.29% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ZBTB24 Gene

Human Gene Mutation Database (HGMD)
ZBTB24
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ZBTB24

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZBTB24 Gene

Disorders for ZBTB24 Gene

MalaCards: The human disease database

(7) MalaCards diseases for ZBTB24 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ZBT24_HUMAN
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 2 (ICF2) [MIM:614069]: A rare disorder characterized by a variable immunodeficiency resulting in recurrent infections, facial anomalies, and branching of chromosomes 1, 9, and 16. Other variable symptoms include growth retardation, failure to thrive, and psychomotor retardation. Laboratory studies show limited hypomethylation of DNA in a small fraction of the genome in some, but not all, patients. {ECO:0000269 PubMed:21596365}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ZBTB24

genes like me logo Genes that share disorders with ZBTB24: view

No data available for Genatlas for ZBTB24 Gene

Publications for ZBTB24 Gene

  1. 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) 2 3 4
  2. Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2. (PMID: 21596365) de Greef JC … van der Maarel SM (American journal of human genetics 2011) 3 4
  3. Many sequence variants affecting diversity of adult human height. (PMID: 18391951) Gudbjartsson DF … Stefansson K (Nature genetics 2008) 3 41
  4. 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
  5. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall AJ … Beck S (Nature 2003) 3 4

Products for ZBTB24 Gene

Sources for ZBTB24 Gene