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Aliases for ZFP57 Gene

Aliases for ZFP57 Gene

  • ZFP57 Zinc Finger Protein 2 3 5
  • Zinc Finger Protein 698 3 4
  • C6orf40 3 4
  • Zfp-57 3 4
  • ZNF698 3 4
  • Zinc Finger Protein 57 Homolog (Mouse) 2
  • Chromosome 6 Open Reading Frame 40 2
  • Zinc Finger Protein 57 Homolog 3
  • BA145L22.2 3
  • BA145L22 3
  • TNDM1 3

External Ids for ZFP57 Gene

Previous HGNC Symbols for ZFP57 Gene

  • C6orf40

Previous GeneCards Identifiers for ZFP57 Gene

  • GC06M029751
  • GC06M029447

Summaries for ZFP57 Gene

Entrez Gene Summary for ZFP57 Gene

  • The protein encoded by this gene is a zinc finger protein containing a KRAB domain. Studies in mouse suggest that this protein may function as a transcriptional repressor. Mutations in this gene have been associated with transient neonatal diabetes mellitus type 1 (TNDM1).[provided by RefSeq, Sep 2009]

GeneCards Summary for ZFP57 Gene

ZFP57 (ZFP57 Zinc Finger Protein) is a Protein Coding gene. Diseases associated with ZFP57 include Diabetes Mellitus, Transient Neonatal, 1 and Diabetes Mellitus, 6Q24-Related Transient Neonatal. GO annotations related to this gene include nucleic acid binding.

UniProtKB/Swiss-Prot for ZFP57 Gene

  • Binds to a 5-TGCCGC-3 consensus sequence and recognizes the methylated CpG within this element (By similarity). Transcription regulator required to maintain maternal and paternal gene imprinting, a process by which gene expression is restricted in a parent of origin-specific manner by epigenetic modification of genomic DNA and chromatin, including DNA methylation. Acts by controlling DNA methylation during the earliest multicellular stages of development at multiple imprinting control regions. Required for the establishment of maternal methylation imprints at SNRPN locus. Acts as a transcriptional repressor in Schwann cells.

Gene Wiki entry for ZFP57 Gene

Additional gene information for ZFP57 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ZFP57 Gene

Genomics for ZFP57 Gene

Regulatory Elements for ZFP57 Gene

Enhancers for ZFP57 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
GH06H029672 0.8 dbSUPER 54.6 +8.0 7968 1 ZBTB21 ZFP64 ZNF140 ZNF266 ZNF697 ZNF664 RBAK ZNF354C GLI2 ZNF547 ZFP57 ZNRD1ASP ZNF311 HCG18 PPP1R10 ERVK9-12 ENSG00000233892 TRIM39 HLA-H GABBR1
GH06H029708 1.4 FANTOM5 Ensembl ENCODE dbSUPER 31.2 -28.2 -28242 2 PKNOX1 IKZF1 CEBPB EBF1 RUNX3 PRDM1 ATF2 HLA-F ZFP57 HLA-J IFITM4P HLA-H ENSG00000227766 ZNRD1ASP OR2H1 HLA-A HLA-K
GH06H029660 0.8 ENCODE dbSUPER 54.5 +18.7 18691 3 POLR2A SCRT2 POU5F1 ETS1 ZFP57 IFITM4P HLA-A ENSG00000227766 GABBR1 SUMO2P1 HLA-K MICD MOG
GH06H029676 0.5 ENCODE 75.4 +2.3 2301 4 POLR2A CEBPB PRDM1 TRIM28 ZFP57 RPL23AP1 IFITM4P HLA-H ZNRD1 ZNRD1ASP HLA-J MICE MICD MOG
GH06H029976 1.3 ENCODE dbSUPER 27.3 -295.8 -295809 1 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF143 SP3 HLA-J ENSG00000237669 HLA-K ZFP57 HLA-H ZNRD1 HLA-A ERVK9-12 MICD HCG4
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ZFP57 on UCSC Golden Path with GeneCards custom track

Promoters for ZFP57 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000195322 245 599

Genomic Location for ZFP57 Gene

Chromosome:
6
Start:
29,672,392 bp from pter
End:
29,681,146 bp from pter
Size:
8,755 bases
Orientation:
Minus strand

Genomic View for ZFP57 Gene

Genes around ZFP57 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZFP57 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ZFP57 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

Proteins for ZFP57 Gene

  • Protein details for ZFP57 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NU63-ZFP57_HUMAN
    Recommended name:
    Zinc finger protein 57 homolog
    Protein Accession:
    Q9NU63
    Secondary Accessions:
    • B0S894
    • B0V254
    • B2RXJ7
    • Q5SSB1

    Protein attributes for ZFP57 Gene

    Size:
    452 amino acids
    Molecular mass:
    51919 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=CAQ10094.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for ZFP57 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ZFP57 Gene

Post-translational modifications for ZFP57 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ZFP57 Gene

No data available for DME Specific Peptides for ZFP57 Gene

Domains & Families for ZFP57 Gene

Gene Families for ZFP57 Gene

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

Protein Domains for ZFP57 Gene

Suggested Antigen Peptide Sequences for ZFP57 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NU63

UniProtKB/Swiss-Prot:

ZFP57_HUMAN :
  • The KRAB domain is required for function as transcriptional repressor.
  • Belongs to the krueppel C2H2-type zinc-finger protein family. ZFP57 subfamily.
Domain:
  • The KRAB domain is required for function as transcriptional repressor.
  • Zinc fingers 3 and 4 mediate recognition of the target element, ZF3 interacting with the 5 half (TGC) and ZF4 interacting with the 3 half (CGC).
Family:
  • Belongs to the krueppel C2H2-type zinc-finger protein family. ZFP57 subfamily.
genes like me logo Genes that share domains with ZFP57: view

Function for ZFP57 Gene

Molecular function for ZFP57 Gene

UniProtKB/Swiss-Prot Function:
Binds to a 5-TGCCGC-3 consensus sequence and recognizes the methylated CpG within this element (By similarity). Transcription regulator required to maintain maternal and paternal gene imprinting, a process by which gene expression is restricted in a parent of origin-specific manner by epigenetic modification of genomic DNA and chromatin, including DNA methylation. Acts by controlling DNA methylation during the earliest multicellular stages of development at multiple imprinting control regions. Required for the establishment of maternal methylation imprints at SNRPN locus. Acts as a transcriptional repressor in Schwann cells.

Phenotypes From GWAS Catalog for ZFP57 Gene

Gene Ontology (GO) - Molecular Function for ZFP57 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ZFP57: view

Phenotypes for ZFP57 Gene

genes like me logo Genes that share phenotypes with ZFP57: view

Human Phenotype Ontology for ZFP57 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ZFP57 Gene

MGI Knock Outs for ZFP57:

Animal Model Products

CRISPR Products

miRNA for ZFP57 Gene

miRTarBase miRNAs that target ZFP57

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ZFP57 Gene

Localization for ZFP57 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ZFP57 Gene

Nucleus. Note=Binds various differentially methylated regions (DMR), including the SNRPN DMR. {ECO:0000250}.

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 ZFP57 gene
Compartment Confidence
nucleus 3
cytosol 2

Gene Ontology (GO) - Cellular Components for ZFP57 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005634 nucleus IEA --
GO:0005720 nuclear heterochromatin IEA --
genes like me logo Genes that share ontologies with ZFP57: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ZFP57 Gene

Pathways & Interactions for ZFP57 Gene

SuperPathways for ZFP57 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ZFP57 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA --
GO:0006349 regulation of gene expression by genetic imprinting IMP 18622393
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007275 multicellular organism development IEA --
genes like me logo Genes that share ontologies with ZFP57: view

No data available for Pathways by source and SIGNOR curated interactions for ZFP57 Gene

Drugs & Compounds for ZFP57 Gene

No Compound Related Data Available

Transcripts for ZFP57 Gene

mRNA/cDNA for ZFP57 Gene

Unigene Clusters for ZFP57 Gene

ZFP57 zinc finger protein:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for ZFP57 Gene

No ASD Table

Relevant External Links for ZFP57 Gene

GeneLoc Exon Structure for
ZFP57
ECgene alternative splicing isoforms for
ZFP57

Expression for ZFP57 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ZFP57 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ZFP57 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x9.3) and Brain - Substantia nigra (x4.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ZFP57 Gene



Protein tissue co-expression partners for ZFP57 Gene

NURSA nuclear receptor signaling pathways regulating expression of ZFP57 Gene:

ZFP57

SOURCE GeneReport for Unigene cluster for ZFP57 Gene:

Hs.156326

Phenotype-based relationships between genes and organs from Gene ORGANizer for ZFP57 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • endocrine
  • nervous
  • reproductive
  • urinary
Organs:
Head and neck:
  • brain
  • ear
  • eye
  • head
Thorax:
  • heart
Abdomen:
  • kidney
  • pancreas
Pelvis:
  • penis
General:
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with ZFP57: view

Primer Products

No data available for Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Evidence on tissue expression from TISSUES for ZFP57 Gene

Orthologs for ZFP57 Gene

This gene was present in the common ancestor of mammals.

Orthologs for ZFP57 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ZFP57 33 34
  • 99.5 (n)
cow
(Bos Taurus)
Mammalia ZFP57 33 34
  • 76.06 (n)
rat
(Rattus norvegicus)
Mammalia Zfp57 33
  • 66.07 (n)
mouse
(Mus musculus)
Mammalia Zfp57 33 16 34
  • 63.59 (n)
dog
(Canis familiaris)
Mammalia ZFP57 34
  • 56 (a)
OneToOne
Species where no ortholog for ZFP57 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 ZFP57 Gene

ENSEMBL:
Gene Tree for ZFP57 (if available)
TreeFam:
Gene Tree for ZFP57 (if available)

Paralogs for ZFP57 Gene

No data available for Paralogs for ZFP57 Gene

Variants for ZFP57 Gene

Sequence variations from dbSNP and Humsavar for ZFP57 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs199589695 Uncertain significance, Transient neonatal diabetes mellitus 1 (TNDM1) [MIM:601410] 29,673,362(+) CGCGG(C/T)GGTGA reference, missense
rs78378398 Pathogenic, Transient neonatal diabetes mellitus 1 (TNDM1) [MIM:601410] 29,673,282(-) AACGC(A/C)ACCAG reference, missense
rs79020217 Pathogenic, Transient neonatal diabetes mellitus 1 (TNDM1) [MIM:601410] 29,672,739(-) TGGAT(C/G)ACTGG downstream-variant-500B, reference, missense
rs606231121 Pathogenic 29,675,420(-) GAGAG(-/AG)TTTGT reference, frameshift-variant
rs606231122 Pathogenic 29,672,728(-) AGGGG(-/C)TATAA downstream-variant-500B, reference, frameshift-variant

Structural Variations from Database of Genomic Variants (DGV) for ZFP57 Gene

Variant ID Type Subtype PubMed ID
esv2759411 CNV gain+loss 17122850
nsv1074389 CNV deletion 25765185
nsv1122126 CNV deletion 24896259
nsv1145096 CNV deletion 24896259

Variation tolerance for ZFP57 Gene

Residual Variation Intolerance Score: 88.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.93; 49.11% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ZFP57 Gene

Human Gene Mutation Database (HGMD)
ZFP57
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ZFP57

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZFP57 Gene

Disorders for ZFP57 Gene

MalaCards: The human disease database

(5) MalaCards diseases for ZFP57 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
diabetes mellitus, transient neonatal, 1
  • diabetes mellitus, transient neonatal
diabetes mellitus, 6q24-related transient neonatal
  • diabetes mellitus, transient neonatal, 1
neonatal diabetes mellitus
  • diabetes mellitus syndrome in newborn infant
silver-russell syndrome
  • srs
beckwith-wiedemann syndrome
  • wiedemann-beckwith syndrome
- elite association - COSMIC cancer census association via MalaCards
Search ZFP57 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ZFP57_HUMAN
  • Transient neonatal diabetes mellitus 1 (TNDM1) [MIM:601410]: Neonatal diabetes is a form of diabetes mellitus defined by the onset of mild-to-severe hyperglycemia within the first months of life. In about half of the neonates, diabetes is transient and resolves at a median age of 3 months, whereas the rest have a permanent form of diabetes. {ECO:0000269 PubMed:18622393}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ZFP57

Genetic Association Database (GAD)
ZFP57
Human Genome Epidemiology (HuGE) Navigator
ZFP57
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ZFP57
genes like me logo Genes that share disorders with ZFP57: view

No data available for Genatlas for ZFP57 Gene

Publications for ZFP57 Gene

  1. High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions. (PMID: 19851445) Barcellos LF … Criswell LA (PLoS genetics 2009) 3 45 60
  2. Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57. (PMID: 18622393) Mackay DJ … Temple IK (Nature genetics 2008) 3 4 60
  3. Genome-wide DNA methylation analysis of transient neonatal diabetes type 1 patients with mutations in ZFP57. (PMID: 27075368) Bak M … Tommerup N (BMC medical genetics 2016) 3 60
  4. The stem cell transcription factor ZFP57 induces IGF2 expression to promote anchorage-independent growth in cancer cells. (PMID: 24469060) Tada Y … Koide H (Oncogene 2015) 3 60
  5. High grade glioblastoma is associated with aberrant expression of ZFP57, a protein involved in gene imprinting, and of CPT1A and CPT1C that regulate fatty acid metabolism. (PMID: 24618825) Cirillo A … Peluso G (Cancer biology & therapy 2014) 3 60

Products for ZFP57 Gene

Sources for ZFP57 Gene

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