ZFP57 (ZFP57 zinc finger protein)

2015-02-01  

Identity

HGNC
LOCATION
6p22.1
LOCUSID
ALIAS
C6orf40,TNDM1,ZNF698,bA145L22,bA145L22.2
FUSION GENES

Other Information

Locus ID:

NCBI: 346171
MIM: 612192
HGNC: 18791
Ensembl: ENSG00000204644

Variants:

dbSNP: 346171
ClinVar: 346171
TCGA: ENSG00000204644
COSMIC: ZFP57

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000204644ENST00000376881Q9NU63
ENSG00000204644ENST00000376883Q9NU63
ENSG00000204644ENST00000488757Q9NU63
ENSG00000204644ENST00000488757A0A1U9X8V5

Expression (GTEx)

0
5
10
15
20

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
198514452009High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions.51
246188252014High 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.23
244690602015The stem cell transcription factor ZFP57 induces IGF2 expression to promote anchorage-independent growth in cancer cells.15
270753682016Genome-wide DNA methylation analysis of transient neonatal diabetes type 1 patients with mutations in ZFP57.10
186223932008Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57.0
196323652009Screening for genomic variants in ZFP57 in Silver-Russell syndrome patients with 11p15 epimutations.0
218630592012No evidence for pathogenic variants or maternal effect of ZFP57 as the cause of Beckwith-Wiedemann Syndrome.0
234994332013Genetic and epigenetic mutations affect the DNA binding capability of human ZFP57 in transient neonatal diabetes type 1.0
237480672013Transient neonatal diabetes mellitus in a Turkish patient with three novel homozygous variants in the ZFP57 gene.0
241356132013Human and mouse ZFP57 proteins are functionally interchangeable in maintaining genomic imprinting at multiple imprinted regions in mouse ES cells.0

Citation

Dessen P

ZFP57 (ZFP57 zinc finger protein)

Atlas Genet Cytogenet Oncol Haematol. 2015-02-01

Online version: http://atlasgeneticsoncology.org/gene/54980/zfp57