Property Summary

NCBI Gene PubMed Count 16
Grant Count 5
R01 Count 5
Funding $786,225.5
PubMed Score 0.00
PubTator Score 29.16

Knowledge Summary

Patent

No data available

Expression

Gene RIF (11)

PMID Text
27075368 transient neonatal diabetes type 1 is associated with ZFP57 mutations
24618825 High grade glioblastoma is associated with increased level of ZFP57, a protein involved in gene imprinting, and aberrant expression of CPT1A and CPT1C.
24469060 ZFP57 regulates the expression of insulin-like growth factor 2 (IGF2), which has a critical role in ZFP57-induced anchorage-independent growth
24193346 These data identify ZFP57 as a candidate gene underlying reported MHC disease associations, notably for putative regulatory variants associated with cancer and HIV-1.
24135613 Mouse and human ZFP57 are orthologs despite relatively low sequence identity.
23748067 ZFP57 vZFP57 vZFP57
23499433 hZFP57 mutations and hypomethylation of the TNDM1 imprinted control region both associated with Transient Neonatal Diabetes Mellitus type 1 result in loss of hZFP57 binding to the TNDM1 locus.
21863059 no evidence for ZFP57 alterations as a major cause in sporadic Beckwith-Wiedemann Syndrome cases
19851445 Observational study of gene-disease association. (HuGE Navigator)
19632365 this study does not provide evidence that ZFP57 mutations are the cause of 11p15-hypomethylation in Silver-Russell syndrome (SRS) patients and contribute to the aetiology of SRS
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AA Sequence

MAAGEPRSLLFFQKPVTFEDVAVNFTQEEWDCLDASQRVLYQDVMSETFKNLTSVARIFLHKPELITKLE      1 - 70
QEEEQWRETRVLQASQAGPPFFCYTCGKCFSRRSYLYSHQFVHNPKLTNSCSQCGKLFRSPKSLSYHRRM     71 - 140
HLGERPFCCTLCDKTYCDASGLSRHRRVHLGYRPHSCSVCGKSFRDQSELKRHQKIHQNQEPVDGNQECT    141 - 210
LRIPGTQAEFQTPIARSQRSIQGLLDVNHAPVARSQEPIFRTEGPMAQNQASVLKNQAPVTRTQAPITGT    211 - 280
LCQDARSNSHPVKPSRLNVFCCPHCSLTFSKKSYLSRHQKAHLTEPPNYCFHCSKSFSSFSRLVRHQQTH    281 - 350
WKQKSYLCPICDLSFGEKEGLMDHWRGYKGKDLCQSSHHKCRVILGQWLGFSHDVPTMAGEEWKHGGDQS    351 - 420
PPRIHTPRRRGLREKACKGDKTKEAVSILKHK                                          421 - 452
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Text Mined References (17)

PMID Year Title
27075368 2016 Genome-wide DNA methylation analysis of transient neonatal diabetes type 1 patients with mutations in ZFP57.
24618825 2014 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.
24469060 2015 The stem cell transcription factor ZFP57 induces IGF2 expression to promote anchorage-independent growth in cancer cells.
24193346 2014 Fine mapping genetic determinants of the highly variably expressed MHC gene ZFP57.
24135613 2013 Human and mouse ZFP57 proteins are functionally interchangeable in maintaining genomic imprinting at multiple imprinted regions in mouse ES cells.
23748067 2013 Transient neonatal diabetes mellitus in a Turkish patient with three novel homozygous variants in the ZFP57 gene.
23499433 2013 Genetic and epigenetic mutations affect the DNA binding capability of human ZFP57 in transient neonatal diabetes type 1.
21863059 2012 No evidence for pathogenic variants or maternal effect of ZFP57 as the cause of Beckwith-Wiedemann Syndrome.
19851445 2009 High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions.
19632365 Screening for genomic variants in ZFP57 in Silver-Russell syndrome patients with 11p15 epimutations.
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