Gene: PHIP

Alternate names for this Gene: BRWD2|CHUJANS|DCAF14|DIDOD|WDR11|ndrp

Gene Summary: This gene encodes a protein that binds to the insulin receptor substrate 1 protein and regulates glucose transporter translocation in skeletal muscle cells. The encoded protein may also regulate growth and survival of pancreatic beta cells. Elevated copy number of this gene may be associated with melanoma severity and the encoded protein may promote melanoma metastasis in human patients.

Gene is located in Chromosome: 6

Location in Chromosome : 6q14.1

Description of this Gene: pleckstrin homology domain interacting protein

Type of Gene: protein-coding

rs768324201 in PHIP gene and DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES PMID 29209020 2018 A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency.

PMID 27900362 2016 De novo PHIP-predicted deleterious variants are associated with developmental delay, intellectual disability, obesity, and dysmorphic features.

PMID 23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.

rs2050663 in PHIP gene and Diastolic blood pressure PMID 27841878 2017 Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.

rs2050663 in PHIP gene and Systolic Pressure PMID 27841878 2017 Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.

PMID 30578418 2019 Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.

rs10455120 in PHIP 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.