Gene: NPR2

Alternate names for this Gene: AMDM|ANPRB|ANPb|ECDM|GC-B|GCB|GUC2B|GUCY2B|NPRB|NPRBi|SNSK

Gene Summary: This gene encodes natriuretic peptide receptor B, one of two integral membrane receptors for natriuretic peptides. Both NPR1 and NPR2 contain five functional domains: an extracellular ligand-binding domain, a single membrane-spanning region, and intracellularly a protein kinase homology domain, a helical hinge region involved in oligomerization, and a carboxyl-terminal guanylyl cyclase catalytic domain. The protein is the primary receptor for C-type natriuretic peptide (CNP), which upon ligand binding exhibits greatly increased guanylyl cyclase activity. Mutations in this gene are the cause of acromesomelic dysplasia Maroteaux type.

Gene is located in Chromosome: 9

Location in Chromosome : 9p13.3

Description of this Gene: natriuretic peptide receptor 2

Type of Gene: protein-coding

Gene: SPAG8

Alternate names for this Gene: BS-84|CILD28|CT142|HSD-1|SMP1|SPAG3|hSMP-1

Gene Summary: The correlation of anti-sperm antibodies with cases of unexplained infertility implicates a role for these antibodies in blocking fertilization. Improved diagnosis and treatment of immunologic infertility, as well as identification of proteins for targeted contraception, are dependent on the identification and characterization of relevant sperm antigens. The protein encoded by this gene is recognized by sperm agglutinating antibodies from an infertile woman. This protein is localized in germ cells of the testis at all stages of spermatogenesis and is localized to the acrosomal region of mature spermatozoa. This protein interacts with ACT (activator of CREM in testis) and may play a role in CREM (cAMP response element modulator)-ACT-mediated gene transcription during spermatogenesis. This protein may also play a role in spermatogenesis by regulating microtubule formation and cell division. Alternatively spliced variants that encode different protein isoforms have been described but the full-length sequences of only two have been determined.

Gene is located in Chromosome: 9

Location in Chromosome : 9p13.3

Description of this Gene: sperm associated antigen 8

Type of Gene: protein-coding

rs1563993649 in NPR2;SPAG8 gene and ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE PMID 15146390 2004 Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux.

rs1563993649 in NPR2;SPAG8 gene and EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE PMID 15146390 2004 Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux.