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] See more...

Aliases for ZFP57 Gene

Aliases for ZFP57 Gene

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

External Ids for ZFP57 Gene

Previous HGNC Symbols for ZFP57 Gene

  • C6orf40

Previous GeneCards Identifiers for ZFP57 Gene

  • GC06M029751
  • GC06M029640
  • 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. Among its related pathways are Herpes simplex virus 1 infection. Gene Ontology (GO) annotations related to this gene include nucleic acid binding. An important paralog of this gene is ZNF287.

UniProtKB/Swiss-Prot Summary for ZFP57 Gene

  • 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 (ICRs) (PubMed:18622393, PubMed:30602440). Acts together with ZNF445, but ZNF445 seems to be the major factor in human early embryonic imprinting maintenance. In contrast, in mice, ZFP57 plays the predominant role in imprinting maintenance (PubMed:30602440). Required for the establishment of maternal methylation imprints at SNRPN locus. Acts as a transcriptional repressor in Schwann cells. Binds to a 5'-TGCCGC-3' consensus sequence and recognizes the methylated CpG within this element (By similarity).

Gene Wiki entry for ZFP57 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ZFP57 Gene

Genomics for ZFP57 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ZFP57 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ZFP57 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ZFP57

Top Transcription factor binding sites by QIAGEN in the ZFP57 gene promoter:
  • C/EBPalpha
  • Evi-1
  • LyF-1
  • STAT2
  • STAT3
  • STAT4
  • STAT5A
  • STAT5B
  • STAT6

Genomic Locations for ZFP57 Gene

Genomic Locations for ZFP57 Gene
chr6:29,672,392-29,681,152
(GRCh38/hg38)
Size:
8,761 bases
Orientation:
Minus strand
chr6:29,640,169-29,648,887
(GRCh37/hg19)
Size:
8,719 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

    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

InterPro:
Blocks:
  • KRAB box
ProtoNet:

Suggested Antigen Peptide Sequences for ZFP57 Gene

GenScript: Design optimal peptide antigens:
  • ZFP57 protein (B7ZW61_HUMAN)
  • Zinc finger protein 698 (ZFP57_HUMAN)

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:
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 (ICRs) (PubMed:18622393, PubMed:30602440). Acts together with ZNF445, but ZNF445 seems to be the major factor in human early embryonic imprinting maintenance. In contrast, in mice, ZFP57 plays the predominant role in imprinting maintenance (PubMed:30602440). Required for the establishment of maternal methylation imprints at SNRPN locus. Acts as a transcriptional repressor in Schwann cells. Binds to a 5'-TGCCGC-3' consensus sequence and recognizes the methylated CpG within this element (By similarity).

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:0003682 chromatin binding IDA 30602440
GO:0003700 DNA-binding transcription factor activity IBA 21873635
GO:0043565 sequence-specific DNA binding IBA 21873635
genes like me logo Genes that share ontologies with ZFP57: view
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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZFP57

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). {ECO:0000269 PubMed:30602440}.

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 4
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for ZFP57 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus 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

PathCards logo

SuperPathways for ZFP57 Gene

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

Pathways by source for ZFP57 Gene

1 KEGG pathway for ZFP57 Gene

Gene Ontology (GO) - Biological Process for ZFP57 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006349 regulation of gene expression by genetic imprinting IMP 18622393
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007275 multicellular organism development IEA --
GO:0043045 DNA methylation involved in embryo development IMP 18622393
genes like me logo Genes that share ontologies with ZFP57: view

No data available for 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

2 REFSEQ mRNAs :
2 NCBI additional mRNA sequence :
3 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 ZFP57

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

No ASD Table

Relevant External Links for ZFP57 Gene

GeneLoc Exon Structure for
ZFP57

Expression for ZFP57 Gene

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



Protein tissue co-expression partners for ZFP57 Gene

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

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 30 31
  • 99.5 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ZFP57 30 31
  • 76.06 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Zfp57 30
  • 66.07 (n)
Mouse
(Mus musculus)
Mammalia Zfp57 30 17 31
  • 63.59 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ZFP57 31
  • 56 (a)
OneToOne
Species where no ortholog for ZFP57 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for ZFP57: view image

Paralogs for ZFP57 Gene

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

Variants for ZFP57 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ZFP57 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
904451 Likely Benign: Transient neonatal diabetes mellitus 1 29,673,268(-) G/A SYNONYMOUS_VARIANT
904452 Uncertain Significance: Transient neonatal diabetes mellitus 1 29,673,285(-) G/A MISSENSE_VARIANT
905243 Likely Benign: Transient neonatal diabetes mellitus 1 29,673,379(-) A/G SYNONYMOUS_VARIANT
907777 Uncertain Significance: Transient neonatal diabetes mellitus 1 29,672,881(-) C/T SYNONYMOUS_VARIANT
917453 Uncertain Significance: Monogenic diabetes 29,675,450(-) C/G MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for ZFP57 Gene

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)

Additional Variant Information for ZFP57 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for ZFP57 Gene

MalaCards: The human disease database

(10) MalaCards diseases for ZFP57 Gene - From: UniProtKB/Swiss-Prot, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- 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
  • Diabetes mellitus, transient neonatal, 1 (TNDM1) [MIM:601410]: An autosomal dominant form of diabetes mellitus defined by the onset of mild-to-severe hyperglycemia within the first month 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.

Additional Disease Information for ZFP57

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

No data available for Genatlas for ZFP57 Gene

Publications for ZFP57 Gene

  1. ZNF445 is a primary regulator of genomic imprinting. (PMID: 30602440) Takahashi N … Trono D (Genes & development 2019) 3 4
  2. 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 41
  3. 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
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. ZFP57 suppress proliferation of breast cancer cells through down-regulation of MEST-mediated Wnt/β-catenin signalling pathway. (PMID: 30787268) Chen L … Zheng M (Cell death & disease 2019) 3

Products for ZFP57 Gene

Sources for ZFP57 Gene