Gene: SPAG16

Alternate names for this Gene: PF20|WDR29

Gene Summary: Cilia and flagella are comprised of a microtubular backbone, the axoneme, which is organized by the basal body and surrounded by plasma membrane. SPAG16 encodes 2 major proteins that associate with the axoneme of sperm tail and the nucleus of postmeiotic germ cells, respectively (Zhang et al., 2007 [PubMed 17699735]).[supplied by OMIM, Jul 2008].

Gene is located in Chromosome: 2

Location in Chromosome : 2q34

Description of this Gene: sperm associated antigen 16

Type of Gene: protein-coding

rs17813412 in SPAG16 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.

rs9677504 in SPAG16 gene and Attention deficit hyperactivity disorder PMID 30478444 2019 Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder.

rs10439273 in SPAG16 gene and Chronic Obstructive Airway Disease PMID 26634245 2015 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry.

rs1510552 in SPAG16 gene and Contrast Sensitivity PMID 24152035 2014 Variants in the 1q21 risk region are associated with a visual endophenotype of autism and schizophrenia.

rs146151667 in SPAG16 gene and Interleukin 1 Receptor Antagonist Measurement PMID 27989323 2017 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors.

rs17813412 in SPAG16 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.

rs13004882 in SPAG16 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.

rs10439273 in SPAG16 gene and response to bronchodilator PMID 26634245 2015 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry.