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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. GO annotations related to this gene include nucleic acid binding. An important paralog of this gene is ENSG00000283620.

UniProtKB/Swiss-Prot for ZNF48 Gene

  • May be involved in transcriptional regulation.

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

Genomics for ZNF48 Gene

Regulatory Elements for ZNF48 Gene

Enhancers for ZNF48 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
GH16F030367 1.3 FANTOM5 ENCODE 16.8 -2.1 -2074 17.0 MLX CREB3L1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 MYLPF SMG1P2 ZNF747 ZNF785 BCL7C ENSG00000260304 NPIPB13 PRR14 ZNF764 ZNF48
GH16F030633 0.9 FANTOM5 Ensembl ENCODE 3.8 +256.7 256695 2.8 PKNOX1 CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 FOS CCDC189 ZNF764 ZNF688 SRCAP ZNF785 ENSG00000239791 FBRS DCTPP1 ZNF629 RNU6-1043P
GH16F030416 1.5 FANTOM5 Ensembl ENCODE 1.4 +39.7 39706 2.4 HDGF ARNT CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF766 ZNF689 NDUFA3P6 CA5AP1 ENSG00000260304 CD2BP2 SEPT1 MYLPF TBC1D10B ZNF668 ZNF747
GH16F030566 0.9 FANTOM5 ENCODE 1.3 +191.8 191769 6.0 PKNOX1 WRNIP1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF302 ENSG00000260267 NPIPB13 ZNF747 SMG1P2 ZNF764 ENSG00000260304 BCL7C ENSG00000261474 ZNF785 ENSG00000235560
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around ZNF48 on UCSC Golden Path with GeneCards custom track

Promoters for ZNF48 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000506407 494 2001 HDGF PKNOX1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 ZNF207 SP3 SP5

Genomic Location for ZNF48 Gene

Chromosome:
16
Start:
30,378,106 bp from pter
End:
30,400,108 bp from pter
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; 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

Protein Domains for ZNF48 Gene

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.
  • Contains 12 C2H2-type zinc fingers.
Family:
  • Belongs to the krueppel C2H2-type zinc-finger protein family.
Similarity:
  • Contains 12 C2H2-type zinc fingers.
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

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 ZNF48 Gene

Localization for ZNF48 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ZNF48 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ZNF48 Gene COMPARTMENTS Subcellular localization image for ZNF48 gene
Compartment Confidence
nucleus 5
mitochondrion 3

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

Interacting Proteins for ZNF48 Gene

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

Transcripts for ZNF48 Gene

Unigene Clusters for ZNF48 Gene

Zinc finger protein 48:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry 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 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
genes like me logo Genes that share expression patterns with ZNF48: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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 34 35
  • 99.51 (n)
dog
(Canis familiaris)
Mammalia ZNF48 34 35
  • 90.76 (n)
cow
(Bos Taurus)
Mammalia ZNF48 34 35
  • 90.01 (n)
rat
(Rattus norvegicus)
Mammalia Zfp771 34
  • 86.12 (n)
mouse
(Mus musculus)
Mammalia Zfp553 34 16 35
  • 84.39 (n)
oppossum
(Monodelphis domestica)
Mammalia ZNF48 35
  • 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

Variants for ZNF48 Gene

Sequence variations from dbSNP and Humsavar for ZNF48 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs193921000 Uncertain significance 30,398,874(+) GCCAG(C/T)CCCAC reference, missense
rs386352335 Uncertain significance 30,377,821(+) CTTCC(A/C)CCCCG downstream-variant-500B, upstream-variant-2KB, reference, missense
rs10530997 -- 30,380,612(+) AAATA(-/TTT)TTTAA intron-variant, nc-transcript-variant
rs111302117 -- 30,395,724(+) AGGGC(A/G)CCGCG intron-variant, utr-variant-5-prime
rs111434499 -- 30,390,611(+) TTTTT(G/T)TTTTT 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)

Relevant External Links for ZNF48 Gene

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

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

Disorders for ZNF48 Gene

Relevant External Links for ZNF48

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 D.C. (Genomics 1992) 2 3 4 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. 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
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
  5. System-wide analysis of SUMOylation dynamics in response to replication stress reveals novel small ubiquitin-like modified target proteins and acceptor lysines relevant for genome stability. (PMID: 25755297) Xiao Z. … Vertegaal A.C. (Mol. Cell. Proteomics 2015) 4 64

Products for ZNF48 Gene

Sources for ZNF48 Gene

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