Gene: SKAP2

Alternate names for this Gene: PRAP|RA70|SAPS|SCAP2|SKAP-HOM|SKAP55R

Gene Summary: The protein encoded by this gene shares homology with Src kinase-associated phosphoprotein 1, and is a substrate of Src family kinases. It is an adaptor protein that is thought to play an essential role in the Src signaling pathway, and in regulating proper activation of the immune system. This protein contains an amino terminal coiled-coil domain for self-dimerization, a plecskstrin homology (PH) domain required for interactions with lipids at the membrane, and a Src homology (SH3) domain at the carboxy terminus. Some reports indicate that this protein inhibits actin polymerization through interactions with actin assembly factors, and might negatively regulate the invasiveness of tumors by modulating actin assembly. Alternative splicing results in multiple transcript variants encoding different isoforms.

Gene is located in Chromosome: 7

Location in Chromosome : 7p15.2

Description of this Gene: src kinase associated phosphoprotein 2

Type of Gene: protein-coding

rs28550029 in SKAP2 gene and Ankylosing spondylitis PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs11971041 in SKAP2 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.

rs28550029 in SKAP2 gene and Cholangitis, Sclerosing PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs2030136 in SKAP2 gene and Chronic venous insufficiency PMID 28374850 2017 Genome-wide association analysis for chronic venous disease identifies EFEMP1 and KCNH8 as susceptibility loci.

rs10486483 in SKAP2 gene and Crohn Disease PMID 23128233 2012 Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.

PMID 26192919 2015 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.

PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs7804356 in SKAP2 gene and Diabetes Mellitus, Insulin-Dependent PMID 19430480 2009 Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.

rs12540388 in SKAP2 gene and Eosinophil count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs559233 in SKAP2 gene and Forced expiratory volume function PMID 30804560 2019 New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.

rs10486483 in SKAP2 gene and Inflammatory Bowel Diseases PMID 26192919 2015 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.

rs7795074 in SKAP2 gene and Lupus Erythematosus, Systemic PMID 28714469 2017 Transancestral mapping and genetic load in systemic lupus erythematosus.

rs706015 in SKAP2 gene and Multiple Sclerosis PMID 24076602 2013 Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.

PMID 22190364 2011 Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.

rs28550029 in SKAP2 gene and Psoriasis PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs28550029 in SKAP2 gene and Ulcerative Colitis PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs4722632 in SKAP2 gene and Vital capacity PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 30804560 2019 New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.

rs559233 in SKAP2 gene and peak expiratory flow (procedure) PMID 30804560 2019 New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.