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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.

UniProtKB/Swiss-Prot for ZNF48 Gene

  • May be involved in transcriptional regulation.

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

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
GH16G030367 2 FANTOM5 Ensembl ENCODE dbSUPER 16.7 -2.1 -2074 17.0 CREB3L1 MLX AGO1 ZFP64 DMAP1 FEZF1 YY1 SLC30A9 ZNF143 ZNF263 MYLPF SMG1P2 ZNF785 ENSG00000260304 ZNF747 NPIPB13 PRR14 ZNF764 BCL7C ZNF48
GH16G029942 1.7 FANTOM5 Ensembl ENCODE 11.2 -434.1 -434124 3.7 CREB3L1 ZFP64 FEZF1 ZNF263 SP3 MEF2D ZNF610 GLIS1 RCOR2 NBN ZNF785 ENSG00000260853 NPIPB13 MIR762HG BCL7C ENSG00000260114 NFATC2IP SMG1P2 INO80E ENSG00000260367
GH16G029972 1.4 Ensembl ENCODE 11.2 -402.6 -402550 6.1 HDGF PKNOX1 MLX CREB3L1 ARNT AGO1 WRNIP1 ARID4B SIN3A DMAP1 NPIPB13 ZNF785 ZNF747 BCL7C ENSG00000198106 ZNF764 INO80E ENSG00000260367 SMG1P2 ENSG00000260114
GH16G030521 1.3 ENCODE dbSUPER 11.2 +144.4 144431 1.5 PKNOX1 ARID4B DMAP1 ZNF2 YY1 SLC30A9 SP3 ZHX2 MXD4 KAT8 ZNF785 ENSG00000260267 SMG1P2 ENSG00000260304 ENSG00000235560 ZNF764 ZNF48 ZNF747 ENSG00000260625 NPIPB13
GH16G030697 1.2 ENCODE 11.2 +321.0 321029 3.8 MLX CREB3L1 AGO1 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC ZNF785 NPIPB13 ENSG00000260267 CD2BP2 ZNF629 ZNF48 ZNF747 BCL7C ENSG00000260304 ENSG00000260625
- Elite enhancer and/or Elite enhancer-gene association 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
ENSR00000085189 294 1601 HDGF PKNOX1 ARNT AGO1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B

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.
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) , 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

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

Primer Products

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 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

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 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
rs1000065551 -- 30,389,604(+) TTGGT(C/T)ATTGT intron-variant
rs1000165138 -- 30,395,177(+) CGGGT(A/G)GCTGG intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs1000206884 -- 30,390,776(+) CCATC(A/G)CGCCT 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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