Gene: SEMA6D

Alternate names for this Gene: -

Gene Summary: Semaphorins are a large family, including both secreted and membrane associated proteins, many of which have been implicated as inhibitors or chemorepellents in axon pathfinding, fasciculation and branching, and target selection. All semaphorins possess a semaphorin (Sema) domain and a PSI domain (found in plexins, semaphorins and integrins) in the N-terminal extracellular portion. Additional sequence motifs C-terminal to the semaphorin domain allow classification into distinct subfamilies. Results demonstrate that transmembrane semaphorins, like the secreted ones, can act as repulsive axon guidance cues. This gene encodes a class 6 vertebrate transmembrane semaphorin that demonstrates alternative splicing. Several transcript variants have been identified and expression of the distinct encoded isoforms is thought to be regulated in a tissue- and development-dependent manner.

Gene is located in Chromosome: 15

Location in Chromosome : 15q21.1

Description of this Gene: semaphorin 6D

Type of Gene: protein-coding

rs3985863 in SEMA6D 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.

rs8032760 in SEMA6D gene and Age at menarche PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs281320 in SEMA6D gene and Attention deficit hyperactivity disorder PMID 30818988 2019 Genetic Markers of ADHD-Related Variations in Intracranial Volume.

PMID 30610198 2019 Attention-deficit/hyperactivity disorder and lifetime cannabis use: genetic overlap and causality.

PMID 29325848 2018 A Genetic Investigation of Sex Bias in the Prevalence of Attention-Deficit/Hyperactivity Disorder.

rs17326895 in SEMA6D gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs12912380 in SEMA6D gene and Body mass index 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 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs8039398 in SEMA6D gene and Cannabis use PMID 30610198 2019 Attention-deficit/hyperactivity disorder and lifetime cannabis use: genetic overlap and causality.

rs66759488 in SEMA6D gene and Carcinoma of lung PMID 28604730 2017 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes.

rs13329140 in SEMA6D gene and Duration of sleep PMID 30804565 2019 Genome-wide analysis of insomnia in 1,331,010 individuals identifies new risk loci and functional pathways.

PMID 30846698 2019 Genome-wide association study identifies genetic loci for self-reported habitual sleep duration supported by accelerometer-derived estimates.

rs501916 in SEMA6D gene and Inflammatory Bowel Diseases PMID 28008999 2016 Genetic architecture differences between pediatric and adult-onset inflammatory bowel diseases in the Polish population.

rs1813760 in SEMA6D gene and Intelligence PMID 31374203 2019 Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways.

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

rs117319730 in SEMA6D gene and Major Depressive Disorder PMID 29942085 2018 Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways.

PMID 30718901 2019 Genome-wide meta-analysis of depression identifies 102 independent variants and highlights the importance of the prefrontal brain regions.

rs3985863 in SEMA6D 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.

rs1813760 in SEMA6D gene and Schizophrenia PMID 31374203 2019 Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways.

rs1912640 in SEMA6D gene and Skin Pigmentation PMID 17999355 2007 A genomewide association study of skin pigmentation in a South Asian population.

rs1435741 in SEMA6D gene and Smoking PMID 30643258 2019 Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences.

rs501916 in SEMA6D gene and Ulcerative Colitis PMID 28008999 2016 Genetic architecture differences between pediatric and adult-onset inflammatory bowel diseases in the Polish population.

rs406196 in SEMA6D gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs12910916 in SEMA6D 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.

rs180709182 in SEMA6D 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.