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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
  • POZ (BTB) And AT Hook Containing Zinc Finger 2 2 3
  • ZNF450 3 4
  • Zinc Finger And BTB Domain-Containing Protein 24 3
  • KIAA0441 4
  • PATZ2 3
  • BIF1 3
  • 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 ZNF324B.

UniProtKB/Swiss-Prot for ZBTB24 Gene

  • May be involved in BMP2-induced transcription.

Additional gene information for ZBTB24 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ZBTB24 Gene

Genomics for ZBTB24 Gene

Regulatory Elements for ZBTB24 Gene

Enhancers for ZBTB24 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
GH06H108555 1.9 FANTOM5 ENCODE dbSUPER 46.6 +921.6 921576 11 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF548 SP3 NFYC ZNF610 ZNF585B ZBTB24 SMPD2 FOXO3 ENSG00000227072 LOC100506224 ENSG00000230248 ENSG00000233908 CD164 RNU6-653P ENSG00000271730
GH06H109379 1.4 ENCODE dbSUPER 60.4 +100.9 100884 6 MLX FEZF1 DMAP1 YY1 ZNF143 SP3 SSRP1 ZNF610 GLIS1 NBN ZBTB24 SMPD2 ENSG00000260273 MICAL1 AK9 PPIL6 ENSG00000233908 PTCHD3P3 CCDC162P LOC105377935
GH06H110178 1.5 FANTOM5 ENCODE 32.6 -697.3 -697281 4 HDGF PKNOX1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 ZBTB24 WASF1 CD164 SMPD2 CNN2P9 CDC40 FIG4
GH06H109092 1.4 ENCODE dbSUPER 34.7 +388.6 388609 4 PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B YY1 ZBTB24 ENSG00000271730 SESN1 GC06M109088
GH06H109453 1.9 FANTOM5 Ensembl ENCODE dbSUPER 23.3 +26.1 26078 7 HDGF PKNOX1 SIN3A ARID4B ZBTB7B ZNF143 SP3 REST SMARCA4 ZSCAN16 SMPD2 ZBTB24 MICAL1 ENSG00000233908 RN7SL617P METTL24 ENSG00000260273 LOC105377935 FOXO3 FIG4
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ZBTB24 on UCSC Golden Path with GeneCards custom track

Promoters for ZBTB24 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000200970 37 1601 ATF1 ARID4B SIN3A DMAP1 YY1 GLIS2 ELK1 ZNF207 RUNX3 MXD4

Genomic Location for ZBTB24 Gene

Chromosome:
6
Start:
109,462,516 bp from pter
End:
109,483,237 bp from pter
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=Translation N-terminally shortened.; 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

Suggested Antigen Peptide Sequences for ZBTB24 Gene

GenScript: Design optimal peptide antigens:

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:0003676 nucleic acid binding IEA --
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 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:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ZBTB24
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 5

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centrosome (2)
  • Cytokinetic bridge (2)
  • Nucleus (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 --
genes like me logo Genes that share ontologies with ZBTB24: view

Pathways & Interactions for ZBTB24 Gene

SuperPathways for ZBTB24 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ZBTB24 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002244 hematopoietic progenitor cell differentiation IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
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

Unigene Clusters for ZBTB24 Gene

Zinc finger and BTB domain containing 24:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ZBTB24
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
ECgene alternative splicing isoforms for
ZBTB24

Expression for ZBTB24 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for ZBTB24 Gene



Protein tissue co-expression partners for ZBTB24 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ZBTB24 Gene:

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

  • Eye(4.1)
  • Nervous system(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
Organs:
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

Primer Products

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 33 34
  • 99.62 (n)
cow
(Bos Taurus)
Mammalia ZBTB24 33 34
  • 91.71 (n)
dog
(Canis familiaris)
Mammalia ZBTB24 33 34
  • 88.74 (n)
rat
(Rattus norvegicus)
Mammalia Zbtb24 33
  • 84.61 (n)
mouse
(Mus musculus)
Mammalia Zbtb24 33 16 34
  • 84.41 (n)
oppossum
(Monodelphis domestica)
Mammalia ZBTB24 34
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ZBTB24 34
  • 48 (a)
OneToOne
chicken
(Gallus gallus)
Aves ZBTB24 33 34
  • 72.95 (n)
lizard
(Anolis carolinensis)
Reptilia ZBTB24 34
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia zbtb24 33
  • 64.15 (n)
Str.16056 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.7636 33
zebrafish
(Danio rerio)
Actinopterygii zbtb24 33 34 34
  • 59 (n)
Species where no ortholog for ZBTB24 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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 ZBTB24 Gene

ENSEMBL:
Gene Tree for ZBTB24 (if available)
TreeFam:
Gene Tree for ZBTB24 (if available)

Paralogs for ZBTB24 Gene

Paralogs for ZBTB24 Gene

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

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

Variants for ZBTB24 Gene

Sequence variations from dbSNP and Humsavar for ZBTB24 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs387907105 Pathogenic, Immunodeficiency-centromeric instability-facial anomalies syndrome 2 (ICF2) [MIM:614069] 109,475,465(-) CGGAA(G/T)GCAAA reference, missense
rs387907104 Pathogenic 109,476,925(-) GGGAG(C/T)GACCT reference, stop-gained
rs387907106 Pathogenic 109,467,654(-) TCCAT(C/T)GGTAA upstream-variant-2KB, reference, stop-gained
rs879255402 Uncertain significance 109,481,686(-) TGCTC(A/G)GTTCT upstream-variant-2KB, reference, missense
rs147441359 Benign 109,481,881(+) GGGCC(C/T)GGAAA upstream-variant-2KB, reference, missense

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)

Relevant External Links 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

(3) MalaCards diseases for ZBTB24 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
immunodeficiency-centromeric instability-facial anomalies syndrome-2
  • immunodeficiency-centromeric instability-facial anomalies syndrome 2
immunodeficiency-centromeric instability-facial anomalies syndrome
  • icf syndrome
granulomatous hepatitis
- 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.

Relevant External Links for ZBTB24

Genetic Association Database (GAD)
ZBTB24
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 60
  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 60
  3. Many sequence variants affecting diversity of adult human height. (PMID: 18391951) Gudbjartsson DF … Stefansson K (Nature genetics 2008) 3 45 60
  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 60
  5. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall AJ … Beck S (Nature 2003) 3 4 60

Products for ZBTB24 Gene

Sources for ZBTB24 Gene

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