Gene: SKAP1

Alternate names for this Gene: HEL-S-81p|SCAP1|SKAP55

Gene Summary: This gene encodes a T cell adaptor protein, a class of intracellular molecules with modular domains capable of recruiting additional proteins but that exhibit no intrinsic enzymatic activity. The encoded protein contains a unique N-terminal region followed by a PH domain and C-terminal SH3 domain. Along with the adhesion and degranulation-promoting adaptor protein, the encoded protein plays a critical role in inside-out signaling by coupling T-cell antigen receptor stimulation to the activation of integrins.

Gene is located in Chromosome: 17

Location in Chromosome : 17q21.32

Description of this Gene: src kinase associated phosphoprotein 1

Type of Gene: protein-coding

rs8080031 in SKAP1 gene and Adolescent idiopathic scoliosis PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs78428146 in SKAP1 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs113866544 in SKAP1 gene and Body mass index PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

PMID 28892062 2017 Genome-wide association study identifies 112 new loci for body mass index in the Japanese population.

PMID 30108127 2018 A Large Multiethnic Genome-Wide Association Study of Adult Body Mass Index Identifies Novel Loci.

PMID 25673413 2015 Genetic studies of body mass index yield new insights for obesity biology.

PMID 26426971 2015 The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study.

rs2278868 in SKAP1 gene and Endometrial Carcinoma PMID 29608257 2018 Genetic overlap between endometriosis and endometrial cancer: evidence from cross-disease genetic correlation and GWAS meta-analyses.

PMID 30093612 2018 Identification of nine new susceptibility loci for endometrial cancer.

rs2278868 in SKAP1 gene and Endometriosis PMID 29608257 2018 Genetic overlap between endometriosis and endometrial cancer: evidence from cross-disease genetic correlation and GWAS meta-analyses.

rs9303542 in SKAP1 gene and Epithelial ovarian cancer PMID 25581431 2015 Identification of six new susceptibility loci for invasive epithelial ovarian cancer.

rs11079810 in SKAP1 gene and High density lipoprotein measurement PMID 30289880 2018 Heritability informed power optimization (HIPO) leads to enhanced detection of genetic associations across multiple traits.

rs16954078 in SKAP1 gene and Intelligence PMID 28530673 2017 Genome-wide association meta-analysis of 78,308 individuals identifies new loci and genes influencing human intelligence.

rs11079810 in SKAP1 gene and Low density lipoprotein cholesterol measurement PMID 30289880 2018 Heritability informed power optimization (HIPO) leads to enhanced detection of genetic associations across multiple traits.

rs9303542 in SKAP1 gene and Malignant neoplasm of ovary PMID 23535730 2013 GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer.

PMID 20852632 2010 A genome-wide association study identifies susceptibility loci for ovarian cancer at 2q31 and 8q24.

rs7207826 in SKAP1 gene and Ovarian Serous Adenocarcinoma PMID 28346442 2017 Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer.

rs8080031 in SKAP1 gene and SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs11079810 in SKAP1 gene and Serum total cholesterol measurement PMID 30289880 2018 Heritability informed power optimization (HIPO) leads to enhanced detection of genetic associations across multiple traits.

rs11079810 in SKAP1 gene and Triglycerides measurement PMID 30289880 2018 Heritability informed power optimization (HIPO) leads to enhanced detection of genetic associations across multiple traits.

rs16969990 in SKAP1 gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs7207826 in SKAP1 gene and ovarian neoplasm PMID 28346442 2017 Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer.

PMID 20852632 2010 A genome-wide association study identifies susceptibility loci for ovarian cancer at 2q31 and 8q24.

PMID 23535730 2013 GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer.