AlphaFold predicted structure
ZFP57 · Q9NU63
Mean pLDDT
56.2/ 100
Low
452 residues
Confidence breakdown
- Very high(≥ 90)0%
- Confident(70–90)33%
- Low(50–70)28%
- Very low(< 50)39%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
ZFP57
Chr 6p22.1ZFP57 zinc finger protein
- Aliases:
- ZNF698, bA145L22, bA145L22.2
- MANE:
- ENST00000376883.2
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
BIALLELIC, autosomal or pseudoautosomalDiabetes with additional phenotypes suggestive of a monogenic aetiology
BIALLELIC, autosomal or pseudoautosomalFamilial diabetes
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalIUGR and IGF abnormalities
BIALLELIC, autosomal or pseudoautosomalMonogenic diabetes
BIALLELIC, autosomal or pseudoautosomalMonogenic short stature
BIALLELIC, autosomal or pseudoautosomalNeonatal diabetes
BIALLELIC, autosomal or pseudoautosomal
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Disease associations (Open Targets)
transient neonatal diabetes mellitus
0.81transient neonatal diabetes, dominant/recessive
0.46neurodegenerative disease
0.24hereditary disease
0.19monogenic diabetes
0.17breast carcinoma
0.08breast cancer
0.08pancreatic neoplasm
0.04familial pancreatic carcinoma
0.04ovarian serous carcinoma
0.03
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Zinc finger protein 57 homolog
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)