Gene: ZFP57

Alternate names for this Gene: C6orf40|TNDM1|ZNF698|bA145L22|bA145L22.2

Gene 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 mellitus type 1 (TNDM1).

Gene is located in Chromosome: 6

Location in Chromosome : 6p22.1

Description of this Gene: ZFP57 zinc finger protein

Type of Gene: protein-coding

rs385492 in ZFP57 gene and Child Development Disorders, Pervasive PMID 28540026 2017 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.

rs199589695 in ZFP57 gene and Diabetes Mellitus, Transient Neonatal, 1 PMID 18622393 2008 Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57.

PMID 10699182 2000 An imprinted locus associated with transient neonatal diabetes mellitus.

rs75834742 in ZFP57 gene and Intelligence PMID 29844566 2018 Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.

rs2535238 in ZFP57 gene and Malignant neoplasm of lung PMID 22899653 2012 Influence of common genetic variation on lung cancer risk: meta-analysis of 14 900 cases and 29 485 controls.

rs3129054 in ZFP57 gene and Rheumatoid Arthritis PMID 19503088 2009 REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis.

rs385492 in ZFP57 gene and Schizophrenia PMID 26198764 2015 Genome-wide association study of schizophrenia in Ashkenazi Jews.

PMID 28540026 2017 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.

rs17184549 in ZFP57 gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.