Gene: SEMA3A

Alternate names for this Gene: COLL1|HH16|Hsema-I|Hsema-III|SEMA1|SEMAD|SEMAIII|SEMAL|SemD|coll-1

Gene Summary: This gene is a member of the semaphorin family and encodes a protein with an Ig-like C2-type (immunoglobulin-like) domain, a PSI domain and a Sema domain. This secreted protein can function as either a chemorepulsive agent, inhibiting axonal outgrowth, or as a chemoattractive agent, stimulating the growth of apical dendrites. In both cases, the protein is vital for normal neuronal pattern development. Increased expression of this protein is associated with schizophrenia and is seen in a variety of human tumor cell lines. Also, aberrant release of this protein is associated with the progression of Alzheimer's disease.

Gene is located in Chromosome: 7

Location in Chromosome : 7q21.11

Description of this Gene: semaphorin 3A

Type of Gene: protein-coding

rs139438618 in SEMA3A gene and Alcohol-Induced Disorders PMID 29071344 2017 Genetic Risk Variants Associated With Comorbid Alcohol Dependence and Major Depression.

rs139438618 in SEMA3A gene and Alcohol-Related Disorders PMID 29071344 2017 Genetic Risk Variants Associated With Comorbid Alcohol Dependence and Major Depression.

rs139438618 in SEMA3A gene and Alcoholic Intoxication, Chronic PMID 29071344 2017 Under the linear regression model, rs139438618 at the semaphorin 3A (SEMA3A [OMIM 603961]) locus was significantly associated with AD and MD comorbidity in African American participants in the Yale-Penn 1 sample (β = 0.89; 95% CI, 0.57-1.20; P = 2.76 × 10-8).

rs137871935 in SEMA3A gene and HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA PMID 22416012 2012 SEMA3A deletion in a family with Kallmann syndrome validates the role of semaphorin 3A in human puberty and olfactory system development.

PMID 22927827 2012 SEMA3A, a gene involved in axonal pathfinding, is mutated in patients with Kallmann syndrome.

PMID 25077900 2014 The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.

rs139438618 in SEMA3A gene and Major Depressive Disorder PMID 29071344 2017 Under the linear regression model, rs139438618 at the semaphorin 3A (SEMA3A [OMIM 603961]) locus was significantly associated with AD and MD comorbidity in African American participants in the Yale-Penn 1 sample (β = 0.89; 95% CI, 0.57-1.20; P = 2.76 × 10-8).

rs556621759 in SEMA3A gene and Waist Circumference PMID 28552196 2017 Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.