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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ZFP57 Gene

protein-coding   GIFtS: 48
GCID: GC06M029640

ZFP57 zinc finger protein

(Previous names: chromosome 6 open reading frame 40, zinc finger protein...)
(Previous symbol: C6orf40)
 Explore 8 diseases affiliated with
ZFP57 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for ZFP57    

Aliases
for ZFP57 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
ZFP57 Zinc Finger Protein1 2     TNDM12 5
C6orf401 2 3     Chromosome 6 Open Reading Frame 401
ZNF6981 2 3     Zinc Finger Protein 57 Homolog (Mouse)1
BA145L221     Zfp-573
BA145L22.21     Zinc Finger Protein 57 Homolog2
Zinc Finger Protein 6982 3     Zfp-573

External Ids:    HGNC: 187911   Entrez Gene: 3461712   Ensembl: ENSG000002046447   OMIM: 6121925   UniProtKB: Q9NU633   

Export aliases for ZFP57 gene to outside databases

Previous GC identifers: GC06M029751 GC06M029447


Summaries
for ZFP57 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for ZFP57:
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)

UniProtKB/Swiss-Prot: ZFP57_HUMAN, Q9NU63
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. Required for the establishment of maternal methylation imprints at
SNRPN locus. Acts as a transcriptional repressor in Schwann cells

Gene Wiki entry for ZFP57


Genomic Views
for ZFP57 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.1  NT_007592.15  NT_113891.2  NT_167244.1  NT_167245.1  NT_167246.1  NT_167247.1  
NT_167248.1  NT_167249.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ZFP57 gene promoter:
         STAT5B   STAT4   STAT6   STAT5A   C/EBPalpha   Evi-1   STAT2   STAT3   LyF-1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for ZFP57

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ZFP57


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p22.1   Ensembl cytogenetic band:  6p22.1   HGNC cytogenetic band: 6p22.1

ZFP57 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ZFP57 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M029640:  view genomic region     (about GC identifiers)

Start:
 29,640,169 bp from pter      End:
 29,648,887 bp from pter
Size:
 8,719 bases      Orientation:
 minus strand

6/7 alternative locations (see all 7):
Chr6-,ALT_REF_LOCI_6 29,640,092-29,680,437      Chr6-,ALT_REF_LOCI_2 29,636,767-29,680,744      Chr6-,ALT_REF_LOCI_3 29,640,126-29,655,928     
Chr6-,ALT_REF_LOCI_5 29,554,774-29,559,531      Chr6-,ALT_REF_LOCI_4 29,562,785-29,567,548      Chr6-,ALT_REF_LOCI_1 29,640,388-29,649,338     

Proteins
for ZFP57 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: ZFP57_HUMAN, Q9NU63 (See protein sequence)
Recommended Name: Zinc finger protein 57 homolog  
Size: 452 amino acids; 51919 Da
Subcellular location: Nucleus (By similarity). Note=Binds various differentially methylated regions (DMR), including
the SNRPN DMR (By similarity)
Sequence caution: Sequence=CAQ10094.1; Type=Erroneous gene model prediction;
Secondary accessions: B0S894 B0V254 B2RXJ7 Q5SSB1
Alternative splicing: 3 isoforms:  Q9NU63-1   Q9NU63-2   Q9NU63-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ZFP57: NX_Q9NU63

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9NU63

    • ZFP57 Protein expression data from MOPED and PaxDb:    About this image 
    ZFP57 Protein Expression
    REFSEQ proteins: NP_001103279.2  
    ENSEMBL proteins: 
     ENSP00000418259   ENSP00000366080   ENSP00000366078  

    Human Recombinant Protein Products for ZFP57: 
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    Uscn Proteins for ZFP57

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----
    GO:0005720nuclear heterochromatin IEA--

    ZFP57 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for ZFP57

    Protein Domains /
    Families
    for ZFP57 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ZFP57 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR015880 Znf_C2H2-like
     IPR001909 Krueppel-associated_box
     IPR013087 Znf_C2H2/integrase_DNA-bd
     IPR007087 Znf_C2H2

    Graphical View of Domain Structure for InterPro Entry Q9NU63

    ProtoNet protein and cluster: Q9NU63

    1 Blocks protein family: IPB001909 KRAB box

    UniProtKB/Swiss-Prot: ZFP57_HUMAN, Q9NU63
    Domain: The KRAB domain is required for function as transcriptional repressor (By similarity)
    Similarity: Belongs to the krueppel C2H2-type zinc-finger protein family. ZFP57 subfamily
    Similarity: Contains 7 C2H2-type zinc fingers
    Similarity: Contains 1 KRAB domain


    Function
    for ZFP57 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ZFP57_HUMAN, Q9NU63
    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. Required for the establishment of maternal methylation imprints at
    SNRPN locus. Acts as a transcriptional repressor in Schwann cells

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0005515protein binding ----
    GO:0008270zinc ion binding IEA--
    GO:0016566specific transcriptional repressor activity ----
         
    ZFP57 for ontologies           About GeneDecksing


    Phenotypes:
         4 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Zfp57):
     cellular  homeostasis/metabolism  mortality/aging  other 

    ZFP57 for phenotypes           About GeneDecksing

    Animal Models:
         Mouse knock-out Zfp57tm1.1Xjli for ZFP57
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for ZFP57 

    miRNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Pathways & Interactions
    for ZFP57 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ZFP57

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IEA--
    GO:0006349regulation of gene expression by genetic imprinting IMP18622393
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent ----
    GO:0007422peripheral nervous system development IEA--

    ZFP57 for ontologies           About GeneDecksing



    Drugs & Compounds
    for ZFP57 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ZFP57
    Search CenterWatch for drugs/clinical trials and news about ZFP57 

    Transcripts
    for ZFP57 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for ZFP57 gene: 
    NM_001109809.2  

    Unigene Cluster for ZFP57:

    ZFP57 zinc finger protein
    Hs.156326  [show with all ESTs]
    Unigene Representative Sequence: NM_001109809
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000488757(uc011dlw.2) ENST00000376883 ENST00000376881

    miRNA
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    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ZFP57 (see all 7)
    OriGene shRNA RFP: ZFP57
    OriGene siRNA: ZFP57
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    Clone
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    Primer
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ZFP57

    Additional cDNA sequence: 

    BC157878.1 BC171888.1 

    2 DOTS entries:

    DT.75101346  DT.95364061 

    20 AceView cDNA sequences:

    BX093489 BE500932 BX371787 AW440310 AW002543 AI651985 BX338549 AW613702 
    AI337131 AI656752 AW593483 CR606639 AW206257 AI341244 BE464103 BX338548 
    CA306501 AI638099 AI970473 AW996554 

    GeneLoc Exon Structure


    Expression
    for ZFP57 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ZFP57 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GAGGTGATCA
    ZFP57 Expression
    About this image

    ZFP57 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    3 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    LimbLimb BudLimb Bud Mesenchyme CellsMesoderm
    OvaryAntral FollicleSecondary OocyteFemale Gametocytes, Germ Cells
    EyeRetinaEye
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See ZFP57 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ZFP57

    SOURCE GeneReport for Unigene cluster: Hs.156326
        SABiosciences Custom PCR Arrays for ZFP57
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    In Situ
    Assay Products:     
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    Orthologs
    for ZFP57 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    		   --

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

    Paralogs
    for ZFP57 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    		  --

    Genomic Variants
    for ZFP57 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/172 NCBI SNPs in ZFP57 are shown (see all 172)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 6 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs783783981,2
    		Cpathogenic29641059(-) AACGCA/CACCAG 2 N H mis10--------
    rs617303281,2
    		C,Fpathogenic29641105(+) ACAGAA/G/TCATGA 3 * C stg1 syn12NS EU 1397
    rs776257431,2
    		Cpathogenic29641145(-) AAGTCA/GTCACC 2 H R mis10--------
    rs25352421,2
    		C,H--29640674(-) GAAGGC/GCCACC 2 A G mis14Minor allele frequency- G:0.00NS EA 412
    rs1446335451,2
    		C--29640729(+) ATGGGG/AGCAAC 2 /P /S mis11Minor allele frequency- A:0.00EU 1153
    rs1932328831,2
    		C--29640770(+) GATGAC/GAGTTG 2 S C mis10--------
    rs1853595041,2
    		--29640779(+) TGGATC/GTGGCA 2 T R mis10--------
    rs25352411,2
    		C,F,H--29640785(-) TCAGGA/TTGCCA 2 D V mis1 ese311Minor allele frequency- T:0.09NA NS EA CSA WA EU 1831
    rs617303261,2
    		C,F--29640802(+) GTTCCA/GGTGAT 2 T syn12Minor allele frequency- G:0.01NS EU 1167
    rs2005376971,2
    		C--29640855(+) AGATGC/GCTGGT 2 P A mis11Minor allele frequency- G:0.00EU 1269

    HapMap Linkage Disequilibrium report for ZFP57 (29640169 - 29648887 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for ZFP57
         1 CNV: 3598
    Human Gene Mutation Database (HGMD): ZFP57

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ZFP57
    DNA2.0 Custom Variant and Variant Library Synthesis for ZFP57

    Disorders / Diseases
    for ZFP57 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    ZFP57 for disorders           About GeneDecksing

    OMIM gene information: 612192   
    OMIM disorders: 601410  
    UniProtKB/Swiss-Prot: ZFP57_HUMAN, Q9NU63
  • Defects in ZFP57 are the cause of transient neonatal diabetes mellitus type 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. The major cause of TNDM1 is aberrant expression of imprinted genes at
    chromosome 6q24, associated in 20% of cases with DNA hypomethylation at the transient neonatal diabetes differentially
    methylated region (DMR), which lies within the imprinted promoter of the PLAGL1 gene. Over 50% of individuals with
    transient neonatal diabetes and hypomethylation at 6q24 also show mosaic DNA hypomethylation at other imprinted loci
    throughout the genome and a range of additional clinical features

    8 diseases for ZFP57:    About MalaCards
    transient neonatal diabetes mellitus    neonatal diabetes mellitus    diabetes mellitus    silver-russell syndrome
    beckwith-wiedemann syndrome    systemic lupus erythematosus    lupus erythematosus    hyperglycemia

    2 diseases from the University of Copenhagen DISEASES database for ZFP57:
    Silver-Russell syndrome     Beckwith-Wiedemann syndrome
    Human Genome Epidemiology (HuGE) Navigator: ZFP57 (2 documents)

    Export disorders for ZFP57 gene to outside databases

    Publications
    for ZFP57 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ZFP57 gene, integrated from 9 sources (see all 12):
    (articles sorted by number of sources associating them with ZFP57)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57. (PubMed id 18622393)1, 2 Mackay D.J....Temple I.K. (2008)
    2. No evidence for pathogenic variants or maternal effect of ZFP57 as the cause of Beckwith-Wiedemann Syndrome. (PubMed id 21863059)1 Boonen S.E....Gronskov K. (2012)
    3. In embryonic stem cells, ZFP57/KAP1 recognize a methyl ated hexanucleotide to affect chromatin and DNA methylation of imprinting contro l regions. (PubMed id 22055183)1 Quenneville S....Trono D. (2011)
    4. High-density SNP screening of the major histocompatib ility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions. (PubMed id 19851445)1 Barcellos L.F....Criswell L.A. (2009)
    5. Screening for genomic variants in ZFP57 in Silver-Rus sell syndrome patients with 11p15 epimutations. (PubMed id 19632365)1 Spengler S....Eggermann T. (2009)
    6. A maternal-zygotic effect gene, Zfp57, maintains both maternal and paternal imprints. (PubMed id 18854139)1 Li X....Ferguson-Smith A.C. (2008)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    8. Identification and characterization of ZFP-57, a novel zinc finger transcription factor in the mammalian peripheral nervous system. (PubMed id 15070898)1 Alonso M.B....Mirsky R. (2004)
    9. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)2 Mungall A.J.... Beck S. (2003)
    10. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

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    Genome Databases showing ZFP57 gene

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    Entrez Gene: 346171 HGNC: 18791 AceView: LOC346171 Ensembl:ENSG00000204644 euGenes: HUgn346171
    ECgene: ZFP57 H-InvDB: ZFP57

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