Aliases for ZNF48 Gene

Aliases for ZNF48 Gene

  • Zinc Finger Protein 48 2 3 4 5
  • Zinc Finger Protein 553 2 3 4
  • ZNF553 3 4
  • DKFZp762K013 2
  • FLJ31751 2
  • MGC43952 2
  • ZNF48 5

External Ids for ZNF48 Gene

Previous HGNC Symbols for ZNF48 Gene

  • ZNF553

Previous GeneCards Identifiers for ZNF48 Gene

  • GC16U990064
  • GC16P030315
  • GC16P030406
  • GC16P027968
  • GC16P030389

Summaries for ZNF48 Gene

GeneCards Summary for ZNF48 Gene

ZNF48 (Zinc Finger Protein 48) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include nucleic acid binding. An important paralog of this gene is ZNF420.

UniProtKB/Swiss-Prot Summary for ZNF48 Gene

Additional gene information for ZNF48 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ZNF48 Gene

Genomics for ZNF48 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ZNF48 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 ZNF48 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ZNF48

Top Transcription factor binding sites by QIAGEN in the ZNF48 gene promoter:
  • AML1a
  • AREB6
  • Bach1
  • Elk-1
  • HOXA9
  • HOXA9B
  • Meis-1
  • Meis-1b
  • p53
  • Tal-1beta

Genomic Locations for ZNF48 Gene

Genomic Locations for ZNF48 Gene
chr16:30,378,106-30,400,108
(GRCh38/hg38)
Size:
22,003 bases
Orientation:
Plus strand
chr16:30,389,427-30,411,429
(GRCh37/hg19)
Size:
22,003 bases
Orientation:
Plus strand

Genomic View for ZNF48 Gene

Genes around ZNF48 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZNF48 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ZNF48 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZNF48 Gene

Proteins for ZNF48 Gene

  • Protein details for ZNF48 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96MX3-ZNF48_HUMAN
    Recommended name:
    Zinc finger protein 48
    Protein Accession:
    Q96MX3
    Secondary Accessions:
    • Q15920
    • Q4G0R3
    • Q69YP3
    • Q96IL9

    Protein attributes for ZNF48 Gene

    Size:
    618 amino acids
    Molecular mass:
    67820 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAA61316.1; Type=Frameshift; Evidence={ECO:0000305};

neXtProt entry for ZNF48 Gene

Post-translational modifications for ZNF48 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ZNF48 Gene

No data available for DME Specific Peptides for ZNF48 Gene

Domains & Families for ZNF48 Gene

Gene Families for ZNF48 Gene

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

Protein Domains for ZNF48 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ZNF48 Gene

GenScript: Design optimal peptide antigens:
  • Zinc finger protein 553 (ZNF48_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96MX3

UniProtKB/Swiss-Prot:

ZNF48_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 ZNF48: view

Function for ZNF48 Gene

Molecular function for ZNF48 Gene

UniProtKB/Swiss-Prot Function:
May be involved in transcriptional regulation.
GENATLAS Biochemistry:
zinc finger protein 48 (C2H2 type,Kruppel-like)

Phenotypes From GWAS Catalog for ZNF48 Gene

Gene Ontology (GO) - Molecular Function for ZNF48 Gene

GO ID Qualified GO term Evidence PubMed IDs
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 ZNF48: view
genes like me logo Genes that share phenotypes with ZNF48: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZNF48

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ZNF48 Gene

Localization for ZNF48 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ZNF48 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 ZNF48 gene
Compartment Confidence
nucleus 4
mitochondrion 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ZNF48 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with ZNF48: view

Pathways & Interactions for ZNF48 Gene

PathCards logo

SuperPathways for ZNF48 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ZNF48 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for ZNF48 Gene

Drugs & Compounds for ZNF48 Gene

No Compound Related Data Available

Transcripts for ZNF48 Gene

mRNA/cDNA for ZNF48 Gene

5 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
5 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 ZNF48

Alternative Splicing Database (ASD) splice patterns (SP) for ZNF48 Gene

ExUns: 1 ^ 2 ^ 3a · 3b
SP1:
SP2:

Relevant External Links for ZNF48 Gene

GeneLoc Exon Structure for
ZNF48

Expression for ZNF48 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ZNF48 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ZNF48 Gene

This gene is overexpressed in Bone marrow stromal cell (54.6) and Peripheral blood mononuclear cells (10.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ZNF48 Gene



Protein tissue co-expression partners for ZNF48 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ZNF48

SOURCE GeneReport for Unigene cluster for ZNF48 Gene:

Hs.513501

Evidence on tissue expression from TISSUES for ZNF48 Gene

  • Nervous system(4.3)
  • Skin(4.1)
genes like me logo Genes that share expression patterns with ZNF48: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ZNF48 Gene

Orthologs for ZNF48 Gene

This gene was present in the common ancestor of mammals.

Orthologs for ZNF48 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ZNF48 30 31
  • 99.51 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ZNF48 30 31
  • 90.76 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ZNF48 30 31
  • 90.01 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Zfp771 30
  • 86.12 (n)
Mouse
(Mus musculus)
Mammalia Zfp553 30 17 31
  • 84.39 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ZNF48 31
  • 55 (a)
OneToOne
Species where no ortholog for ZNF48 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)
  • Chicken (Gallus gallus)
  • 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)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for ZNF48 Gene

ENSEMBL:
Gene Tree for ZNF48 (if available)
TreeFam:
Gene Tree for ZNF48 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ZNF48: view image

Paralogs for ZNF48 Gene

genes like me logo Genes that share paralogs with ZNF48: view

Variants for ZNF48 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ZNF48 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
rs193921000 Uncertain Significance: Malignant tumor of prostate 30,398,874(+) C/T MISSENSE_VARIANT
rs12921440 - p.Ala65Val
rs34843513 - p.Ile224Val
rs7200143 - p.Gln21Arg

Additional dbSNP identifiers (rs#s) for ZNF48 Gene

Structural Variations from Database of Genomic Variants (DGV) for ZNF48 Gene

Variant ID Type Subtype PubMed ID
nsv1071283 CNV deletion 25765185
nsv1782 CNV deletion 18451855
nsv827612 CNV gain 20364138

Variation tolerance for ZNF48 Gene

Residual Variation Intolerance Score: 9.61% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.33; 53.60% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ZNF48 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ZNF48

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZNF48 Gene

Disorders for ZNF48 Gene

Additional Disease Information for ZNF48

No disorders were found for ZNF48 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ZNF48 Gene

Publications for ZNF48 Gene

  1. Clustering of C2-H2 zinc finger motif sequences within telomeric and fragile site regions of human chromosomes. (PMID: 1505991) Lichter P … Ward DC (Genomics 1992) 2 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 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. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. H4K20me0 recognition by BRCA1-BARD1 directs homologous recombination to sister chromatids. (PMID: 30804502) Nakamura K … Groth A (Nature cell biology 2019) 3

Products for ZNF48 Gene

Sources for ZNF48 Gene