Gene: SETBP1

Alternate names for this Gene: MRD29|SEB

Gene Summary: This gene encodes a protein which contains a several motifs including a ski homology region and a SET-binding region in addition to three nuclear localization signals. The encoded protein has been shown to bind the SET nuclear oncogene which is involved in DNA replication. Mutations in this gene are associated with Schinzel-Giedion midface retraction syndrome. Multiple transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 18

Location in Chromosome : 18q12.3

Description of this Gene: SET binding protein 1

Type of Gene: protein-coding

rs1276250 in SETBP1 gene and Alopecia PMID 28196072 2017 Genetic prediction of male pattern baldness.

rs267607038 in SETBP1 gene and Arthrogryposis PMID 31680123 2020 The genomic and clinical landscape of fetal akinesia.

rs16978240 in SETBP1 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs11874040 in SETBP1 gene and Body mass index PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs6507583 in SETBP1 gene and Breast Carcinoma PMID 25751625 2015 Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer.

PMID 29059683 2017 Association analysis identifies 65 new breast cancer risk loci.

rs17782904 in SETBP1 gene and Coronary Aneurysm PMID 27171184 2016 Genome-Wide Association Study Identifies Novel Susceptibility Genes Associated with Coronary Artery Aneurysm Formation in Kawasaki Disease.

rs1555706391 in SETBP1 gene and Dysmorphic features PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 23020937 2012 Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.

PMID 25663181 2015 Schinzel-Giedion syndrome in two Brazilian patients: Report of a novel mutation in SETBP1 and literature review of the clinical features.

PMID 28346496 2017 Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.

PMID 23832012 2013 Somatic SETBP1 mutations in myeloid malignancies.

PMID 25356899 2014 De novo mutations in moderate or severe intellectual disability.

PMID 21037274 2011 Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome.

PMID 18398855 2008 Schinzel-Giedion syndrome: report of splenopancreatic fusion and proposed diagnostic criteria.

PMID 25217958 2014 Refining analyses of copy number variation identifies specific genes associated with developmental delay.

PMID 20436468 2010 De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.

PMID 25028416 2015 West syndrome in a patient with Schinzel-Giedion syndrome.

rs267607038 in SETBP1 gene and Early severe fetal akinesia sequence PMID 31680123 2020 The genomic and clinical landscape of fetal akinesia.

rs9807656 in SETBP1 gene and Glomerular Filtration Rate PMID 31152163 2019 A catalog of genetic loci associated with kidney function from analyses of a million individuals.

rs991014 in SETBP1 gene and Heart Function Tests PMID 21076409 2010 Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction.

rs267607042 in SETBP1 gene and Juvenile Myelomonocytic Leukemia PMID 23832011 2013 Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia.

rs267607040 in SETBP1 gene and Leukemia, Myelocytic, Acute PMID 23648668 2013 SETBP1 mutation analysis in 944 patients with MDS and AML.

PMID 23889083 2013 Mutations in SETBP1 are recurrent in myelodysplastic syndromes and often coexist with cytogenetic markers associated with disease progression.

rs1057519594 in SETBP1 gene and MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 PMID 25217958 2014 Refining analyses of copy number variation identifies specific genes associated with developmental delay.

PMID 25663181 2015 Schinzel-Giedion syndrome in two Brazilian patients: Report of a novel mutation in SETBP1 and literature review of the clinical features.

PMID 28346496 2017 Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.

PMID 20436468 2010 De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.

PMID 25852444 2015 Whole-Exome Sequencing in the Clinic: Lessons from Six Consecutive Cases from the Clinician's Perspective.

rs267607040 in SETBP1 gene and MYELODYSPLASTIC SYNDROME PMID 23648668 2013 SETBP1 mutation analysis in 944 patients with MDS and AML.

PMID 23889083 2013 Mutations in SETBP1 are recurrent in myelodysplastic syndromes and often coexist with cytogenetic markers associated with disease progression.

rs17782904 in SETBP1 gene and Mucocutaneous Lymph Node Syndrome PMID 27171184 2016 Genome-Wide Association Study Identifies Novel Susceptibility Genes Associated with Coronary Artery Aneurysm Formation in Kawasaki Disease.

rs1555706391 in SETBP1 gene and Muscle hypotonia PMID 18398855 2008 Schinzel-Giedion syndrome: report of splenopancreatic fusion and proposed diagnostic criteria.

PMID 20436468 2010 De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.

PMID 21037274 2011 Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome.

PMID 23832012 2013 Somatic SETBP1 mutations in myeloid malignancies.

PMID 25356899 2014 De novo mutations in moderate or severe intellectual disability.

PMID 25028416 2015 West syndrome in a patient with Schinzel-Giedion syndrome.

PMID 23020937 2012 Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.

PMID 25663181 2015 Schinzel-Giedion syndrome in two Brazilian patients: Report of a novel mutation in SETBP1 and literature review of the clinical features.

PMID 25217958 2014 Refining analyses of copy number variation identifies specific genes associated with developmental delay.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 28346496 2017 Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.

rs267607038 in SETBP1 gene and Myeloid Leukemia, Chronic PMID 23222956 2013 Recurrent SETBP1 mutations in atypical chronic myeloid leukemia.

PMID 24976289 2014 Managing children with chronic myeloid leukaemia (CML): recommendations for the management of CML in children and young people up to the age of 18 years.

rs10853525 in SETBP1 gene and QRS complex feature PMID 27659466 2016 52 Genetic Loci Influencing Myocardial Mass.

rs267607038 in SETBP1 gene and Schinzel-Giedion syndrome PMID 20436468 2010 De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.

PMID 28346496 2017 Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.

PMID 25028416 2015 West syndrome in a patient with Schinzel-Giedion syndrome.

PMID 25852444 2015 Whole-Exome Sequencing in the Clinic: Lessons from Six Consecutive Cases from the Clinician's Perspective.

PMID 25663181 2015 Schinzel-Giedion syndrome in two Brazilian patients: Report of a novel mutation in SETBP1 and literature review of the clinical features.

rs11874040 in SETBP1 gene and Systolic Pressure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs16978162 in SETBP1 gene and Waist-Hip Ratio PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.