rs7804122
This is a synonymous variant in the SEMA3A gene — it does not change the protein's amino acid sequence.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶SEMA3A rs7804122 polymorphism is associated with Hirschsprung disease in the Northeastern region of ChinaReviewLi–Li Wang et al.(2012)· Birth Defects Research Part A: Clinical and Molecular Teratology
This review article discusses signaling pathways that control embryonic development of the enteric nervous system (ENS), focusing on their roles in Hirschsprung disease. Key pathways include RET/GDNF (present in ~50% of familial and 20-30% of sporadic Hirschsprung cases), EDNRB/endothelin-3 (~5% of cases), BMP, Hedgehog/Notch, semaphorin-3A (with rs7804122 polymorphism associated with disease), and adhesion molecules. The review synthesizes current understanding of migration, proliferation, neuroglial differentiation, and ganglion formation of ENS precursor cells derived from vagal and sacral neural crest.
About SEMA3A
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. [provided by RefSeq, Jul 2008]
View all SEMA3A variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…