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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 , 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around ZNF48 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for ZNF48 Gene at MOPED

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.
genes like me logo Genes that share phenotypes with ZNF48: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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

No data available for Gene Ontology (GO) - Cellular Components for ZNF48 Gene

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 --
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:

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 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



SOURCE GeneReport for Unigene cluster for ZNF48 Gene Hs.513501

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

Protein tissue co-expression partners for ZNF48 Gene

Primer Products

In Situ Assay 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
cow
(Bos Taurus)
Mammalia ZNF48 35
  • 90.01 (n)
  • 94.17 (a)
ZNF48 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ZNF48 35
  • 90.76 (n)
  • 94.33 (a)
ZNF48 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Zfp553 35
  • 84.39 (n)
  • 88.47 (a)
Zfp553 16
Zfp553 36
  • 87 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ZNF48 35
  • 99.51 (n)
  • 99.51 (a)
ZNF48 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Zfp771 35
  • 86.12 (n)
  • 89.5 (a)
oppossum
(Monodelphis domestica)
Mammalia ZNF48 36
  • 55 (a)
OneToOne
Species with no ortholog for ZNF48:
  • 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

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

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
rs12921440 - 30,397,444(+) AAATG(C/T)CTCTC reference, missense, utr-variant-5-prime
rs34843513 - 30,397,920(-) ACATA(C/T)GCCAC reference, missense
VAR_059894 -
rs3574 -- 30,400,061(-) GGGAA(C/G)CACAC utr-variant-3-prime
rs8063632 -- 30,389,404(+) aaaaa(A/T)aaTAA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv905724 CNV Loss 21882294
nsv827612 CNV Gain 20364138
nsv905725 CNV Loss 21882294
nsv1782 CNV Loss 18451855

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

HapMap Linkage Disequilibrium report
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 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3
  5. 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

Products for ZNF48 Gene

Sources for ZNF48 Gene

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