ZFP57 (ZFP57 zinc finger protein)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 346171
Gene name ZFP57 zinc finger protein
Gene symbol ZFP57
Synonyms (NCBI Gene)
C6orf40TNDM1ZNF698bA145L22bA145L22.2
Chromosome 6
Chromosome location 6p22.1
Summary 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 mellit
SNPs SNP information provided by dbSNP.
5
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (5)
SNP ID Visualize variation Clinical significance Consequence
rs61730328 G>A,T Benign, pathogenic Stop gained, coding sequence variant, synonymous variant
rs77625743 C>T Pathogenic Coding sequence variant, missense variant
rs78378398 G>A,T Pathogenic Coding sequence variant, missense variant
rs606231121 TCTC>-,TC Pathogenic Frameshift variant, coding sequence variant
rs606231123 GTGCCTGG>- Pathogenic Stop gained, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
2
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (2)
miRTarBase ID miRNA Experiments Reference
MIRT016959 hsa-miR-335-5p Microarray 18185580
MIRT016959 hsa-miR-335-5p Microarray 18185580
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
12
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
GO:0003677 Function DNA binding IEA
GO:0003682 Function Chromatin binding IDA 30602440
GO:0005515 Function Protein binding IPI 31403225, 32296183
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
612192 18791 ENSG00000204644
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NU63
Protein name Zinc finger protein 57 homolog (Zfp-57) (Zinc finger protein 698)
Protein 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 met
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01352 KRAB 15 → 55 KRAB box Family
PF00096 zf-C2H2 91 → 113 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 147 → 169 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 175 → 197 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 329 → 350 Zinc finger, C2H2 type Domain
Sequence 
MAAGEPRSLLFFQKPVTFEDVAVNFTQEEWDCLDASQRVLYQDVMSETFKNLTSVARIFL
HKPELITKLEQEEEQWRETRVLQASQAGPPFFCYTCGKCFSRRSYLYSHQFVHNPKLTNS
CSQCGKLFRSPKSLSYHRRMHLGERPFCCTLCDKTYCDASGLSRHRRVHLGYRPHSCSVC
GKSFRDQSELKRHQKIHQNQEPVDGNQECTLRIPGTQAEFQTPIARSQRSIQGLLDVNHA
PVARSQEPIFRTEGPMAQNQASVLKNQAPVTRTQAPITGTLCQDARSNSHPVKPSRLNVF
CCPHCSLTFSKKSYLSRHQKAHLTEPPNYCFHCSKSFSSFSRLVRHQQTHWKQKSYLCPI
CDLSFGEKEGLMDHWRGYKGKDLCQSSHHKCRVILGQWLGFSHDVPTMAGEEWKHGGDQS
PPRIHTPRRRGLREKACKGDKTKEAVSILKHK
Sequence length 452
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
92
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Diabetes mellitus, transient neonatal, 1 Pathogenic; Likely pathogenic rs2127547350, rs2127544675, rs762074022, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123 RCV001785155
RCV001784045
RCV004018015
RCV000000751
RCV000000752
RCV000000753
RCV000000754
RCV000000755
RCV000000756
RCV000000757
ZFP57-related disorder Likely pathogenic rs762074022 RCV003956715
Show/Hide Unknown Diseases (20)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs378596 RCV005915533
Cervical cancer Benign rs378596 RCV005915536
Cholangiocarcinoma Benign rs378596 RCV005915544
Chronic lymphocytic leukemia/small lymphocytic lymphoma Benign rs378596 RCV005915545
Show/Hide Text Mining Associations (19)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
6q24 Related Transient Neonatal Diabetes Mellitus Associate 21863059, 27075368
Alzheimer Disease Associate 37833700
Anodontia Associate 35175239
Birk Barel Mental Retardation Dysmorphism Syndrome Associate 33053156
Cerebellar Ataxia Deafness and Narcolepsy Associate 37584462
Colorectal Neoplasms Associate 35175239
Developmental Disabilities Associate 23150280
Diabetes Mellitus Associate 23748067, 27322064, 28667717
Diabetes Mellitus Transient Neonatal 1 Associate 23150280, 23748067, 27075368
Distal Myopathies Associate 38015635