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.