Aliases for ZNF248 Gene

Aliases for ZNF248 Gene

  • Zinc Finger Protein 248 2 3 4 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 and Herpes simplex virus 1 infection. Gene Ontology (GO) annotations related to this gene include nucleic acid binding. An important paralog of this gene is ZFP90.

UniProtKB/Swiss-Prot Summary for ZNF248 Gene

Additional gene information for ZNF248 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ZNF248 Gene

Genomics for ZNF248 Gene

GeneHancer (GH) Regulatory Elements for ZNF248 Gene

Promoters and enhancers for ZNF248 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
GH10J037975 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 511 -115.4 -115449 2.6 HNRNPK ZBTB40 ZNF217 EP300 CTCF NRF1 POLR2G PHF8 SIX5 ZFX ZNF25 ZNF248 ZNF25-DT ZNF33A ZNF37A piR-57460-054
GH10J037854 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 +3.9 3850 4 SIN3A NRF1 TCF12 POLR2G SP1 PHF8 ZFX ZNF639 ZIC2 POLR2A ENSG00000236514 ZNF248 CICP9 ZNF25 ZNF33A SEPTIN7P9 ZNF25-DT HSD17B7P2 lnc-ZNF25-2
GH10J037860 Enhancer 1.1 FANTOM5 Ensembl ENCODE 512 0.0 -49 1 ZSCAN5C TEAD1 FOXA2 OSR2 WT1 FOS SRF JUND ZNF335 HOMEZ ZNF248 ZNF25 ZNF37CP
GH10J038093 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 6.8 -233.7 -233650 2.6 ZNF217 NRF1 TCF12 POLR2G PHF8 SIX5 ZFX ZIC2 POLR2A ZBTB26 ZNF37A ENSG00000283930 lnc-ZNF33A-6 ENSG00000272983 HSD17B7P2 ZNF248 ZNF25 SLC9B1P3 piR-38423-004
GH10J037734 Enhancer 0.8 Ensembl ENCODE 11 +125.6 125578 0.9 TCF12 FOSL2 FOSL1 EHMT2 GATA3 JUND DPF2 SMARCE1 JUN L3MBTL2 ZNF25 ZNF248 SEPTIN7P9 HSD17B7P2 piR-31470-044 piR-53114-005
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ZNF248 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ZNF248

Top Transcription factor binding sites by QIAGEN in the ZNF248 gene promoter:
  • c-Myb
  • GR
  • GR-alpha
  • GR-beta

Genomic Locations for ZNF248 Gene

Genomic Locations for ZNF248 Gene
chr10:37,744,363-37,860,851
(GRCh38/hg38)
Size:
116,489 bases
Orientation:
Minus strand
chr10:38,091,751-38,147,034
(GRCh37/hg19)
Size:
55,284 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

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for ZNF248 Gene

Blocks:
  • C2H2-type zinc finger signature
  • KRAB box
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ZNF248 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ50026, highly similar to Zinc finger protein 248 (A2RUI7_HUMAN)
  • Zinc finger protein 248 (B1AL40_HUMAN)
  • Zinc finger protein 248 (B1AL42_HUMAN)
  • ZNF248 protein (Q05CR2_HUMAN)
  • Zinc finger protein 248, isoform CRA_b (Q8NDV8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8NDW4

UniProtKB/Swiss-Prot:

ZN248_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 ZNF248: view

Function for ZNF248 Gene

Molecular function for ZNF248 Gene

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

Phenotypes From GWAS Catalog for ZNF248 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZNF248

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 4
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)

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

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

Pathways by source for ZNF248 Gene

2 Reactome pathways for ZNF248 Gene
1 KEGG pathway for ZNF248 Gene

Interacting Proteins for ZNF248 Gene

;

Gene Ontology (GO) - Biological Process for ZNF248 Gene

GO ID Qualified GO term Evidence PubMed IDs
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

Drugs & Compounds for ZNF248 Gene

No Compound Related Data Available

Transcripts for ZNF248 Gene

mRNA/cDNA for ZNF248 Gene

30 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZNF248

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

Expression for ZNF248 Gene

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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ZNF248

SOURCE GeneReport for Unigene cluster for ZNF248 Gene:

Hs.528423

Evidence on tissue expression from TISSUES for ZNF248 Gene

  • Intestine(4.1)
  • Nervous system(3.5)
genes like me logo Genes that share expression patterns with ZNF248: view

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 , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 31 30
  • 99.71 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ZNF248 31 30
  • 88.18 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ZNF248 31 30
  • 86.51 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Zfp248 30
  • 81.02 (n)
mouse
(Mus musculus)
Mammalia Zfp248 17 31 30
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ZNF248: view image

Paralogs for ZNF248 Gene

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

  • ZN248_HUMAN
  • A2RUI7_HUMAN
  • B1AL40_HUMAN
  • B1AL42_HUMAN
  • Q05CR2_HUMAN
  • S4R340_HUMAN

Pseudogenes.org Pseudogenes for ZNF248 Gene

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

Variants for ZNF248 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ZNF248 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
rs11011379 - p.Lys218Glu

Additional dbSNP identifiers (rs#s) for ZNF248 Gene

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)

Additional Variant Information 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

Additional Disease Information for ZNF248

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

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 MS (Genome research 2003) 2 3 4 54
  2. Common body mass index-associated variants confer risk of extreme obesity. (PMID: 19553259) Cotsapas C … GIANT Consortium (Human molecular genetics 2009) 3 41 54
  3. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A … Goate A (American journal of human genetics 2006) 3 41 54
  4. Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing. (PMID: 28611215) Fei T … Brown M (Proceedings of the National Academy of Sciences of the United States of America 2017) 3 54
  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 54

Products for ZNF248 Gene

Sources for ZNF248 Gene