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Aliases for ZNF248 Gene

Aliases for ZNF248 Gene

  • Zinc Finger Protein 248 2 3 5
  • Kruppel-Type Zinc Finger Protein 3
  • BA162G10.3 (Zinc Finger Protein) 3
  • KRAB Protein Domain 3
  • BA162G10.3 3

External Ids for ZNF248 Gene

Previous GeneCards Identifiers for ZNF248 Gene

  • GC00U990515
  • GC10M038121
  • GC10M038157
  • GC10M038131
  • GC10M037825
  • GC10M038091

Summaries for ZNF248 Gene

GeneCards Summary for ZNF248 Gene

ZNF248 (Zinc Finger Protein 248) is a Protein Coding gene. Among its related pathways are Gene Expression. GO annotations related to this gene include nucleic acid binding. An important paralog of this gene is ZNF33B.

UniProtKB/Swiss-Prot for ZNF248 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 ZNF248 Gene

Genomics for ZNF248 Gene

Regulatory Elements for ZNF248 Gene

Enhancers for ZNF248 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
GH10F037860 1.3 FANTOM5 Ensembl ENCODE 12.1 -0.1 -116 0.5 SRF TEAD1 FOXA3 INSM2 TSHZ1 ZNF518A OSR2 ATF3 SCRT2 HMBOX1 ZNF25 ZNF248 ZNF37CP
GH10F037975 1.4 FANTOM5 ENCODE 10.9 -115.4 -115430 2.2 PKNOX1 ATF1 CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF48 ZNF2 ETS1 ZNF248 ZNF25 ENSG00000226447 ZNF37A PIR38379
GH10F037734 0.6 ENCODE 10.9 +125.6 125578 0.9 DPF2 ZNF644 ARID1B JUND GATA3 SMARCA4 ATF3 FOS TRIM24 ZNF25 ZNF248 SEPT7P9 HSD17B7P2 GC10P037760 LOC105376498
GH10F038054 0.6 ENCODE 8.1 -193.8 -193791 0.9 ZNF316 CEBPB FOS TRIM24 EP300 MAFK ZNF248 ZNF37A ENSG00000275675 RNU6-795P
GH10F038037 0.7 Ensembl ENCODE 6.9 -177.9 -177892 1.9 IRF2 CBX5 IRF1 ZNF25 ZNF248 RNU6-795P ZNF33A
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ZNF248 on UCSC Golden Path with GeneCards custom track

Genomic Location for ZNF248 Gene

Chromosome:
10
Start:
37,744,363 bp from pter
End:
37,860,851 bp from pter
Size:
116,489 bases
Orientation:
Minus strand

Genomic View for ZNF248 Gene

Genes around ZNF248 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZNF248 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ZNF248 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZNF248 Gene

Proteins for ZNF248 Gene

  • Protein details for ZNF248 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NDW4-ZN248_HUMAN
    Recommended name:
    Zinc finger protein 248
    Protein Accession:
    Q8NDW4
    Secondary Accessions:
    • Q8NDV8
    • Q9UMP3

    Protein attributes for ZNF248 Gene

    Size:
    579 amino acids
    Molecular mass:
    67087 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for ZNF248 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ZNF248 Gene

Post-translational modifications for ZNF248 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ZNF248 Gene

Domains & Families for ZNF248 Gene

Gene Families for ZNF248 Gene

Graphical View of Domain Structure for InterPro Entry

Q8NDW4

UniProtKB/Swiss-Prot:

ZN248_HUMAN :
  • Contains 1 KRAB domain.
  • Belongs to the krueppel C2H2-type zinc-finger protein family.
  • Contains 8 C2H2-type zinc fingers.
Domain:
  • Contains 1 KRAB domain.
Family:
  • Belongs to the krueppel C2H2-type zinc-finger protein family.
Similarity:
  • Contains 8 C2H2-type zinc fingers.
genes like me logo Genes that share domains with ZNF248: view

Function for ZNF248 Gene

Molecular function for ZNF248 Gene

UniProtKB/Swiss-Prot Function:
May be involved in transcriptional regulation.

Gene Ontology (GO) - Molecular Function for ZNF248 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 ZNF248: view
genes like me logo Genes that share phenotypes with ZNF248: view

Animal Model Products

miRNA for ZNF248 Gene

miRTarBase miRNAs that target ZNF248

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 ZNF248 Gene

Localization for ZNF248 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ZNF248 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 ZNF248 gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for ZNF248 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with ZNF248: view

Pathways & Interactions for ZNF248 Gene

SuperPathways for ZNF248 Gene

SuperPathway Contained pathways
1 Gene Expression
genes like me logo Genes that share pathways with ZNF248: view

Pathways by source for ZNF248 Gene

2 Reactome pathways for ZNF248 Gene

Gene Ontology (GO) - Biological Process for ZNF248 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 ZNF248: view

No data available for SIGNOR curated interactions for ZNF248 Gene

Transcripts for ZNF248 Gene

Unigene Clusters for ZNF248 Gene

Zinc finger protein 248:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ZNF248 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b · 8c ^ 9a · 9b · 9c ^ 10
SP1: - - - - - -
SP2: - - - -
SP3: - - - - - -
SP4: - -
SP5: - - - -
SP6: - - - -
SP7: - - -
SP8: -
SP9:

Relevant External Links for ZNF248 Gene

GeneLoc Exon Structure for
ZNF248
ECgene alternative splicing isoforms for
ZNF248

Expression for ZNF248 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ZNF248 Gene

NURSA nuclear receptor signaling pathways regulating expression of ZNF248 Gene:

ZNF248

SOURCE GeneReport for Unigene cluster for ZNF248 Gene:

Hs.528423
genes like me logo Genes that share expression patterns with ZNF248: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for ZNF248 Gene

Orthologs for ZNF248 Gene

This gene was present in the common ancestor of mammals.

Orthologs for ZNF248 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ZNF248 34 35
  • 99.71 (n)
cow
(Bos Taurus)
Mammalia ZNF248 34 35
  • 88.18 (n)
dog
(Canis familiaris)
Mammalia ZNF248 34 35
  • 86.51 (n)
rat
(Rattus norvegicus)
Mammalia Zfp248 34
  • 81.02 (n)
mouse
(Mus musculus)
Mammalia Zfp248 34 16 35
  • 79.51 (n)
Species where no ortholog for ZNF248 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)
  • oppossum (Monodelphis domestica)
  • 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 ZNF248 Gene

ENSEMBL:
Gene Tree for ZNF248 (if available)
TreeFam:
Gene Tree for ZNF248 (if available)

Paralogs for ZNF248 Gene

(496) SIMAP similar genes for ZNF248 Gene using alignment to 6 proteins:

Pseudogenes.org Pseudogenes for ZNF248 Gene

genes like me logo Genes that share paralogs with ZNF248: view

Variants for ZNF248 Gene

Sequence variations from dbSNP and Humsavar for ZNF248 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs10219004 -- 37,797,587(+) ttttt(A/T)aaaaa intron-variant
rs1046241 -- 37,829,931(-) TATTT(A/T)TGTGC intron-variant, utr-variant-3-prime
rs10508861 -- 37,775,141(+) TGCAC(A/G)TTACT intron-variant, nc-transcript-variant, utr-variant-3-prime
rs10827824 -- 37,758,111(+) TCCTT(C/T)TGCAT downstream-variant-500B
rs10827825 -- 37,764,419(+) TTTCA(C/T)CCCAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ZNF248 Gene

Variant ID Type Subtype PubMed ID
esv1183366 CNV insertion 17803354
esv3306460 CNV mobile element insertion 20981092
esv3310059 CNV mobile element insertion 20981092
esv3350289 CNV insertion 20981092
esv3359591 CNV insertion 20981092
esv3426542 CNV insertion 20981092
esv3622970 CNV loss 21293372
nsv1040704 CNV gain 25217958
nsv1144470 CNV deletion 24896259

Variation tolerance for ZNF248 Gene

Residual Variation Intolerance Score: 11% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.21; 24.35% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ZNF248 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ZNF248

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZNF248 Gene

Disorders for ZNF248 Gene

Relevant External Links for ZNF248

Genetic Association Database (GAD)
ZNF248
Human Genome Epidemiology (HuGE) Navigator
ZNF248
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ZNF248

No disorders were found for ZNF248 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ZNF248 Gene

Publications for ZNF248 Gene

  1. Genomic sequence and transcriptional profile of the boundary between pericentromeric satellites and genes on human chromosome arm 10p. (PMID: 12566394) Guy J. … Jackson M.S. (Genome Res. 2003) 2 3 4 64
  2. Common body mass index-associated variants confer risk of extreme obesity. (PMID: 19553259) Cotsapas C. … Daly M.J. (Hum. Mol. Genet. 2009) 3 46 64
  3. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A. … Goate A. (Am. J. Hum. Genet. 2006) 3 46 64
  4. Insights into RNA biology from an atlas of mammalian mRNA-binding proteins. (PMID: 22658674) Castello A. … Hentze M.W. (Cell 2012) 3 64
  5. Epigenetic gene silencing by the SRY protein is mediated by a KRAB-O protein that recruits the KAP1 co-repressor machinery. (PMID: 19850934) Peng H. … Rauscher F.J. (J. Biol. Chem. 2009) 22 64

Products for ZNF248 Gene

Sources for ZNF248 Gene

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