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Aliases for ZNF48 Gene

Aliases for ZNF48 Gene

  • Zinc Finger Protein 48 2 3 5
  • Zinc Finger Protein 553 2 3 4
  • ZNF553 3 4

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.

UniProtKB/Swiss-Prot for ZNF48 Gene

  • May be involved in transcriptional regulation.

Additional gene information for ZNF48 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ZNF48 Gene

Genomics for ZNF48 Gene

GeneHancer (GH) Regulatory Elements for ZNF48 Gene

Promoters and enhancers for ZNF48 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
GH16I030367 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 566.8 -2.1 -2074 17 CLOCK FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 MYLPF ZNF48 TBC1D10B SEPT1 SETD1A SRCAP INO80E NPIPB12 SMG1P5 ZNF764
GH16I030393 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.4 +17.0 17020 2.9 MLX ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B SLC30A9 SEPT1 ZNF48 SETD1A FUS INO80E SRCAP ZNF785 ZNF764 ZNF689 SMG1P5
GH16I029972 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE 11.2 -402.5 -402549 6.1 HDGF PKNOX1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 TAOK2 SETD1A INO80E NPIPB12 SRCAP NPIPB13 ENSG00000260367 ZNF764 ZNF785 BCL7C
GH16I030760 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 11.2 +384.0 383988 3.5 HDGF PKNOX1 SMAD1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 CCDC189 RNF40 PIR45630 ZNF747 ZNF785 PRRT2 SETD1A FUS ZNF720 LOC647086
GH16I030984 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 11.2 +607.4 607390 2.1 HDGF ARID4B SIN3A ZNF2 YY1 ZNF143 DEK SP3 SP5 MXD4 HSD3B7 ZNF785 ZNF720 ZNF48 ENSG00000260911 ENSG00000279196 SETD1A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ZNF48 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ZNF48 gene promoter:

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)

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; Positions=168; Evidence={ECO:0000305};

neXtProt entry for ZNF48 Gene

Post-translational modifications for ZNF48 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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:

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

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

Gene Ontology (GO) - Molecular Function for ZNF48 Gene

GO ID Qualified GO term Evidence PubMed IDs
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

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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 5
mitochondrion 3

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

SuperPathways for ZNF48 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ZNF48 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 ZNF48: view

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

Unigene Clusters for ZNF48 Gene

Zinc finger protein 48:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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
ECgene alternative splicing isoforms for
ZNF48

Expression for ZNF48 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for ZNF48 Gene



Protein tissue co-expression partners for ZNF48 Gene

NURSA nuclear receptor signaling pathways regulating expression of ZNF48 Gene:

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 33 34
  • 99.51 (n)
dog
(Canis familiaris)
Mammalia ZNF48 33 34
  • 90.76 (n)
cow
(Bos Taurus)
Mammalia ZNF48 33 34
  • 90.01 (n)
rat
(Rattus norvegicus)
Mammalia Zfp771 33
  • 86.12 (n)
mouse
(Mus musculus)
Mammalia Zfp553 33 16 34
  • 84.39 (n)
oppossum
(Monodelphis domestica)
Mammalia ZNF48 34
  • 55 (a)
OneToOne
Species where no ortholog for ZNF48 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)
  • 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)

Paralogs for ZNF48 Gene

No data available for Paralogs for ZNF48 Gene

Variants for ZNF48 Gene

Sequence variations from dbSNP and Humsavar for ZNF48 Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs193921000 uncertain-significance, Malignant tumor of prostate 30,398,874(+) C/T coding_sequence_variant, missense_variant
rs386352335 uncertain-significance, not provided 30,377,821(+) C/A/T upstream_transcript_variant
rs1000065551 -- 30,389,604(+) C/T genic_upstream_transcript_variant, intron_variant
rs1000165138 -- 30,395,177(+) G/A 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000206884 -- 30,390,776(+) A/G genic_upstream_transcript_variant, intron_variant

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 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  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 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation. (PMID: 28112733) Hendriks IA … Nielsen ML (Nature structural & molecular biology 2017) 4 58

Products for ZNF48 Gene

Sources for ZNF48 Gene

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