Gene: PLXNC1

Alternate names for this Gene: CD232|PLXN-C1|VESPR

Gene Summary: This gene encodes a member of the plexin family. Plexins are transmembrane receptors for semaphorins, a large family of proteins that regulate axon guidance, cell motility and migration, and the immune response. The encoded protein and its ligand regulate melanocyte adhesion, and viral semaphorins may modulate the immune response by binding to this receptor. The encoded protein may be a tumor suppressor protein for melanoma. Alternatively spliced transcript variants have been observed for this gene.

Gene is located in Chromosome: 12

Location in Chromosome : 12q22

Description of this Gene: plexin C1

Type of Gene: protein-coding

Gene: CEP83

Alternate names for this Gene: CCDC41|NPHP18|NY-REN-58

Gene Summary: The protein encoded by this gene is a centriolar protein involved in primary cilium assembly. Defects in this gene have been associated with infantile nephronophthisis and intellectual disability.

Gene is located in Chromosome: 12

Location in Chromosome : 12q22

Description of this Gene: centrosomal protein 83

Type of Gene: protein-coding

rs3803070 in PLXNC1;CEP83 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.

rs575315089 in PLXNC1;CEP83 gene and Estradiol level result PMID 23518928 2013 TSPYL5 SNPs: association with plasma estradiol concentrations and aromatase expression.

rs575315089 in PLXNC1;CEP83 gene and Estradiol measurement PMID 23518928 2013 TSPYL5 SNPs: association with plasma estradiol concentrations and aromatase expression.

rs3803070 in PLXNC1;CEP83 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.