ZFP57 (ZFP57 zinc finger protein)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
346171
Gene name Gene Name - the full gene name approved by the HGNC.
ZFP57 zinc finger protein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ZFP57
Synonyms (NCBI Gene) Gene synonyms aliases
C6orf40, TNDM1, ZNF698, bA145L22, bA145L22.2
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p22.1
Summary Summary of gene provided in NCBI Entrez 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 mellit
SNPs SNP information provided by dbSNP.
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.
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 information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(12)
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
612192 18791 ENSG00000204644
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Diabetes Mellitus diabetes mellitus, transient neonatal, 1 rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123 N/A
Show/Hide Unknown Diseases (8)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Breast Cancer Breast cancer N/A N/A GWAS
Hypothyroidism Hypothyroidism N/A N/A GWAS
Insomnia Insomnia N/A N/A GWAS
Mental Depression Major depressive disorder N/A N/A GWAS
Show/Hide Text Mining Associations (19)
Associations from Text Mining Disease 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