Gene: ATXN2L

Alternate names for this Gene: A2D|A2LG|A2LP|A2RP

Gene Summary: This gene encodes an ataxin type 2 related protein of unknown function. This protein is a member of the spinocerebellar ataxia (SCAs) family, which is associated with a complex group of neurodegenerative disorders. Several alternatively spliced transcripts encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 16

Location in Chromosome : 16p11.2

Description of this Gene: ataxin 2 like

Type of Gene: protein-coding

rs12928404 in ATXN2L gene and AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.

rs12928404 in ATXN2L gene and AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.

rs12928404 in ATXN2L gene and AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.

rs12928404 in ATXN2L gene and Ankylosing spondylitis PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.

rs12928404 in ATXN2L gene and Autoimmune Diseases PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.

rs12928404 in ATXN2L gene and Autoimmune thyroiditis PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.

rs8062405 in ATXN2L gene and Body Weight PMID 28552196 2017 Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.

rs12325113 in ATXN2L gene and Body mass index PMID 28448500 2017 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.

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

PMID 28552196 2017 Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.

rs12928404 in ATXN2L gene and Celiac Disease PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.

rs12928404 in ATXN2L gene and Common Variable Immunodeficiency PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.

rs12928404 in ATXN2L gene and Crohn Disease PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.

rs12928404 in ATXN2L gene and Diabetes Mellitus, Insulin-Dependent PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.

rs8049439 in ATXN2L gene and Inflammatory Bowel Diseases PMID 19915574 2009 We have identified five new regions associated with early-onset IBD susceptibility, including 16p11 near the cytokine gene IL27 (rs8049439, P = 2.41 x 10(-9)), 22q12 (rs2412973, P = 1.55 x 10(-9)), 10q22 (rs1250550, P = 5.63 x 10(-9)), 2q37 (rs4676410, P = 3.64 x 10(-8)) and 19q13.11 (rs10500264, P = 4.26 x 10(-10)).

rs12928404 in ATXN2L gene and Intelligence PMID 28530673 2017 Genome-wide association meta-analysis of 78,308 individuals identifies new loci and genes influencing human intelligence.

PMID 29520040 2019 Biological annotation of genetic loci associated with intelligence in a meta-analysis of 87,740 individuals.

PMID 29326435 2019 A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence.

PMID 29186694 2017 Large-Scale Cognitive GWAS Meta-Analysis Reveals Tissue-Specific Neural Expression and Potential Nootropic Drug Targets.

rs12928404 in ATXN2L gene and Juvenile arthritis PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.

rs12928404 in ATXN2L gene and Lupus Erythematosus, Systemic PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.

rs8049439 in ATXN2L gene and Multiple Sclerosis PMID 22190364 2011 Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.

rs12325113 in ATXN2L gene and Physical Activity Measurement PMID 28448500 2017 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.

rs12928404 in ATXN2L gene and Psoriasis PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.

rs12928404 in ATXN2L gene and Ulcerative Colitis PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.

rs62036624 in ATXN2L gene and Waist Circumference PMID 28552196 2017 Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.