Gene: SIPA1L2

Alternate names for this Gene: SPAL2|SPAR2

Gene Summary: This gene encodes a member of the signal-induced proliferation-associated 1 like family. Members of this family contain a GTPase activating domain, a PDZ domain and a C-terminal coiled-coil domain with a leucine zipper. A similar protein in rat acts as a GTPases for the small GTPase Rap.

Gene is located in Chromosome: 1

Location in Chromosome : 1q42.2

Description of this Gene: signal induced proliferation associated 1 like 2

Type of Gene: protein-coding

rs10910445 in SIPA1L2 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.

rs10910527 in SIPA1L2 gene and Charcot-Marie-Tooth Disease, Type Ia (disorder) PMID 30706531 2019 Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1A.

rs10797576 in SIPA1L2 gene and Parkinson Disease PMID 28892059 2017 A meta-analysis of genome-wide association studies identifies 17 new Parkinson's disease risk loci.

PMID 25064009 2014 Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.

rs10910445 in SIPA1L2 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.

rs2357066 in SIPA1L2 gene and Schizophrenia PMID 30285260 2019 Genome-Wide Association Study Detected Novel Susceptibility Genes for Schizophrenia and Shared Trans-Populations/Diseases Genetic Effect.

rs11589828 in SIPA1L2 gene and Systolic Pressure PMID 25189868 2015 Gene-smoking interactions identify several novel blood pressure loci in the Framingham Heart Study.