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Aliases for ZBTB48 Gene

Aliases for ZBTB48 Gene

  • Zinc Finger And BTB Domain Containing 48 2 3 5
  • Krueppel-Related Zinc Finger Protein 3 3 4
  • GLI-Kruppel Family Member HKR3 2 3
  • Zinc Finger Protein 855 3 4
  • ZNF855 3 4
  • HKR3 3 4
  • Zinc Finger And BTB Domain-Containing Protein 48 3
  • Protein HKR3 4
  • Pp9964 3

External Ids for ZBTB48 Gene

Previous HGNC Symbols for ZBTB48 Gene

  • HKR3

Previous GeneCards Identifiers for ZBTB48 Gene

  • GC01P006562
  • GC01P006640
  • GC01P005788

Summaries for ZBTB48 Gene

GeneCards Summary for ZBTB48 Gene

ZBTB48 (Zinc Finger And BTB Domain Containing 48) is a Protein Coding gene. Diseases associated with ZBTB48 include Neuroblastoma. GO annotations related to this gene include nucleic acid binding and transcription factor activity, sequence-specific DNA binding. An important paralog of this gene is RREB1.

UniProtKB/Swiss-Prot for ZBTB48 Gene

  • Binds to and regulates the J and/or S elements in MHC II promoter.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ZBTB48 Gene

Genomics for ZBTB48 Gene

Regulatory Elements for ZBTB48 Gene

Enhancers for ZBTB48 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
GH01F006197 0.4 ENCODE 20.4 -380.6 -380648 3.2 HDGF PKNOX1 ARNT CREB3L1 MLX WRNIP1 ZFP64 ARID4B SIN3A FEZF1 PHF13 ZBTB48 RNF207 GC01M006194
GH01F006598 1.1 FANTOM5 ENCODE 14.3 +22.2 22221 6.9 HDGF PKNOX1 CREB3L1 MLX WRNIP1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 KLHL21 THAP3 RPL22 HES3 LOC102725193 ZBTB48 PHF13 PIR47122 PIR44711
GH01F006487 0.2 ENCODE 11.2 -89.4 -89434 6.0 HDGF ARID4B FEZF1 DMAP1 ZNF2 ZNF143 ZNF263 SP3 REST KAT8 PLEKHG5 PHF13 TNFRSF25 ZBTB48 KLHL21 THAP3 ESPN
GH01F006404 0.4 ENCODE 11.1 -175.2 -175156 0.2 ZFP64 ZNF493 ARID4B FEZF1 ZNF121 GLIS2 ZNF302 ZNF143 KLF7 ZNF548 RPL22 PHF13 ZBTB48 GC01M006398 HES2
GH01F006783 0.9 ENCODE 11.1 +205.2 205197 3.6 HDGF PKNOX1 CREB3L1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 PHF13 ZBTB48 ENSG00000237436 CAMTA1
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around ZBTB48 on UCSC Golden Path with GeneCards custom track

Promoters for ZBTB48 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000529749 209 1201 HDGF PKNOX1 ATF1 ARID4B SIN3A FEZF1 DMAP1 BRCA1 YY1 GLIS2

Genomic Location for ZBTB48 Gene

Chromosome:
1
Start:
6,579,991 bp from pter
End:
6,589,280 bp from pter
Size:
9,290 bases
Orientation:
Plus strand

Genomic View for ZBTB48 Gene

Genes around ZBTB48 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZBTB48 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ZBTB48 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZBTB48 Gene

Proteins for ZBTB48 Gene

  • Protein details for ZBTB48 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P10074-ZBT48_HUMAN
    Recommended name:
    Zinc finger and BTB domain-containing protein 48
    Protein Accession:
    P10074
    Secondary Accessions:
    • Q5SY19

    Protein attributes for ZBTB48 Gene

    Size:
    688 amino acids
    Molecular mass:
    77054 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for ZBTB48 Gene

neXtProt entry for ZBTB48 Gene

Post-translational modifications for ZBTB48 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ZBTB48 Gene

Domains & Families for ZBTB48 Gene

Gene Families for ZBTB48 Gene

Graphical View of Domain Structure for InterPro Entry

P10074

UniProtKB/Swiss-Prot:

ZBT48_HUMAN :
  • Contains 1 BTB (POZ) domain.
  • Belongs to the krueppel C2H2-type zinc-finger protein family.
  • Contains 11 C2H2-type zinc fingers.
Domain:
  • Contains 1 BTB (POZ) domain.
Family:
  • Belongs to the krueppel C2H2-type zinc-finger protein family.
Similarity:
  • Contains 11 C2H2-type zinc fingers.
genes like me logo Genes that share domains with ZBTB48: view

Function for ZBTB48 Gene

Molecular function for ZBTB48 Gene

UniProtKB/Swiss-Prot Function:
Binds to and regulates the J and/or S elements in MHC II promoter.

Gene Ontology (GO) - Molecular Function for ZBTB48 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003700 transcription factor activity, sequence-specific DNA binding TAS 8661141
GO:0005515 protein binding IPI 16189514
GO:0042802 identical protein binding IPI 25416956
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ZBTB48: view
genes like me logo Genes that share phenotypes with ZBTB48: view

Animal Model Products

miRNA for ZBTB48 Gene

miRTarBase miRNAs that target ZBTB48

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 ZBTB48 Gene

Localization for ZBTB48 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ZBTB48 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ZBTB48 Gene COMPARTMENTS Subcellular localization image for ZBTB48 gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for ZBTB48 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
genes like me logo Genes that share ontologies with ZBTB48: view

Pathways & Interactions for ZBTB48 Gene

SuperPathways for ZBTB48 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ZBTB48 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with ZBTB48: view

No data available for Pathways by source and SIGNOR curated interactions for ZBTB48 Gene

Transcripts for ZBTB48 Gene

Unigene Clusters for ZBTB48 Gene

Zinc finger and BTB domain containing 48:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ZBTB48 Gene

No ASD Table

Relevant External Links for ZBTB48 Gene

GeneLoc Exon Structure for
ZBTB48
ECgene alternative splicing isoforms for
ZBTB48

Expression for ZBTB48 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ZBTB48 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ZBTB48 Gene

This gene is overexpressed in Whole Blood (x4.2).

Protein differential expression in normal tissues from HIPED for ZBTB48 Gene

This gene is overexpressed in Heart (31.1), Adipocyte (15.2), Adrenal (11.7), and NK cells (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ZBTB48 Gene



Protein tissue co-expression partners for ZBTB48 Gene

NURSA nuclear receptor signaling pathways regulating expression of ZBTB48 Gene:

ZBTB48

SOURCE GeneReport for Unigene cluster for ZBTB48 Gene:

Hs.502330

mRNA Expression by UniProt/SwissProt for ZBTB48 Gene:

P10074-ZBT48_HUMAN
Tissue specificity: Detected in adrenal gland and neuroblastoma.
genes like me logo Genes that share expression patterns with ZBTB48: view

Primer Products

Orthologs for ZBTB48 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ZBTB48 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ZBTB48 34 35
  • 99.66 (n)
oppossum
(Monodelphis domestica)
Mammalia ZBTB48 35
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ZBTB48 34 35
  • 89.87 (n)
cow
(Bos Taurus)
Mammalia ZBTB48 34 35
  • 89.78 (n)
rat
(Rattus norvegicus)
Mammalia Zbtb48 34
  • 87.47 (n)
mouse
(Mus musculus)
Mammalia Zbtb48 34 16 35
  • 87.37 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ZBTB48 35
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves ZBTB48 34 35
  • 72.64 (n)
lizard
(Anolis carolinensis)
Reptilia ZBTB48 35
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia zbtb48 34
  • 63.45 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.12958 34
zebrafish
(Danio rerio)
Actinopterygii zbtb48 34 35
  • 59.2 (n)
Species where no ortholog for ZBTB48 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 ZBTB48 Gene

ENSEMBL:
Gene Tree for ZBTB48 (if available)
TreeFam:
Gene Tree for ZBTB48 (if available)

Paralogs for ZBTB48 Gene

Variants for ZBTB48 Gene

Sequence variations from dbSNP and Humsavar for ZBTB48 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1042775 -- 6,589,219(+) CCATT(C/T)TGGCC nc-transcript-variant, utr-variant-3-prime
rs11122100 -- 6,578,004(+) GTCCC(C/T)TCTGT intron-variant, upstream-variant-2KB
rs111327008 -- 6,581,656(+) AAGAT(C/G)CTGTC intron-variant
rs111370674 -- 6,579,390(+) TCTTC(A/G)CCACG nc-transcript-variant, upstream-variant-2KB, reference, synonymous-codon, missense
rs111433662 -- 6,589,637(+) GTGAT(C/G)AGGGC downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for ZBTB48 Gene

Variant ID Type Subtype PubMed ID
nsv472111 CNV novel sequence insertion 20440878
nsv545269 CNV loss 21841781
nsv7880 CNV gain+loss 18304495
nsv831536 CNV loss 17160897
nsv831647 CNV loss 17160897
nsv955151 CNV deletion 24416366

Variation tolerance for ZBTB48 Gene

Residual Variation Intolerance Score: 2.98% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.22; 52.31% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ZBTB48 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ZBTB48

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZBTB48 Gene

Disorders for ZBTB48 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ZBTB48 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
neuroblastoma
  • neuroblastoma 1
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for ZBTB48

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ZBTB48
genes like me logo Genes that share disorders with ZBTB48: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ZBTB48 Gene

Publications for ZBTB48 Gene

  1. The GLI-Kruppel family of human genes. (PMID: 2850480) Ruppert J.M. … Vogelstein B. (Mol. Cell. Biol. 1988) 2 3 4 64
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  3. Human Kruppel-related 3 (HKR3): a candidate for the 1p36 neuroblastoma tumour suppressor gene? (PMID: 9516840) Maris J.M. … White P.S. (Eur. J. Cancer 1997) 3 4 64
  4. Cloning, chromosomal localization, physical mapping, and genomic characterization of HKR3. (PMID: 8661141) Maris J.M. … White P.S. (Genomics 1996) 2 3 64
  5. A factor that regulates the class II major histocompatibility complex gene DPA is a member of a subfamily of zinc finger proteins that includes a Drosophila developmental control protein. (PMID: 7969177) Sugawara M. … Strominger J.L. (Mol. Cell. Biol. 1994) 3 4 64

Products for ZBTB48 Gene

Sources for ZBTB48 Gene

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