SPAG1 Chromosome 8
Sperm associated antigen 1
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What This Gene Does
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 expressed by this gene is recognized by anti-sperm agglutinating antibodies from an infertile woman. Furthermore, immunization of female rats with the recombinant human protein reduced fertility. This protein localizes to the plasma membrane of germ cells in the testis and to the post-acrosomal plasma membrane of mature spermatozoa. Recombinant polypeptide binds GTP and exhibits GTPase activity. Thus, this protein may regulate GTP signal transduction pathways involved in spermatogenesis and fertilization. Two transcript variants of this gene encode the same protein. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Tetratricopeptide repeat domain containing|Axonemal dynein assembly factors|R2SP complex"
Locus Type
gene with protein product
Location
8q22.2
Ensembl
ENSG00000104450
Associated Conditions (5)
Primary ciliary dyskinesia 28
Primary ciliary dyskinesia
SPAG1-related disorder
Autosomal dominant nocturnal frontal lobe epilepsy 5
Kartagener syndrome
Key Variants
RS1175188961
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 28, Primary ciliary dyskinesia, Primary ciliary dyskinesia 28
Health Risk
RS141605537
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 28, Primary ciliary dyskinesia, SPAG1-related disorder
Health Risk
RS142031266
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 28, Primary ciliary dyskinesia, Primary ciliary dyskinesia 28
Health Risk
RS148883126
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 28, Primary ciliary dyskinesia, SPAG1-related disorder
Health Risk
RS149271265
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 28, Primary ciliary dyskinesia, SPAG1-related disorder
Health Risk
RS377184852
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 28, Primary ciliary dyskinesia 28
Health Risk
RS544372581
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 28, Primary ciliary dyskinesia, SPAG1-related disorder
Health Risk
RS556715100
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia 28, Primary ciliary dyskinesia
Health Risk
RS745418167
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 28, Primary ciliary dyskinesia, Primary ciliary dyskinesia 28
Health Risk
RS750321216
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 28, Primary ciliary dyskinesia, Primary ciliary dyskinesia 28
Health Risk
RS751142825
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 28, Primary ciliary dyskinesia, Primary ciliary dyskinesia 28
Health Risk
RS755306741
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 28, Primary ciliary dyskinesia, Primary ciliary dyskinesia 28
Health Risk
All Variants (62)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1175188961 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 28, Primary ciliary dyskinesia, Primary ciliary dyskinesia 28 |
| RS141605537 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 28, Primary ciliary dyskinesia, SPAG1-related disorder |
| RS142031266 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 28, Primary ciliary dyskinesia, Primary ciliary dyskinesia 28 |
| RS148883126 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 28, Primary ciliary dyskinesia, SPAG1-related disorder |
| RS149271265 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 28, Primary ciliary dyskinesia, SPAG1-related disorder |
| RS377184852 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 28, Primary ciliary dyskinesia 28 |
| RS544372581 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 28, Primary ciliary dyskinesia, SPAG1-related disorder |
| RS556715100 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia 28, Primary ciliary dyskinesia |
| RS745418167 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 28, Primary ciliary dyskinesia, Primary ciliary dyskinesia 28 |
| RS750321216 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 28, Primary ciliary dyskinesia, Primary ciliary dyskinesia 28 |
| RS751142825 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 28, Primary ciliary dyskinesia, Primary ciliary dyskinesia 28 |
| RS755306741 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 28, Primary ciliary dyskinesia, Primary ciliary dyskinesia 28 |
| RS755866717 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 28, Primary ciliary dyskinesia, Primary ciliary dyskinesia 28 |
| RS761617724 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 28, Primary ciliary dyskinesia, SPAG1-related disorder |
| RS772098225 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 28, Primary ciliary dyskinesia, Primary ciliary dyskinesia 28 |
| RS878855237 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 28, Primary ciliary dyskinesia, Primary ciliary dyskinesia 28 |
| RS1060503104 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia 28, Primary ciliary dyskinesia 28 |
| RS1330765503 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia 28, Primary ciliary dyskinesia 28 |
| RS2489308738 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2489447196 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia 28, Primary ciliary dyskinesia 28 |
| RS2489633707 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia 28, Primary ciliary dyskinesia 28 |
| RS756444933 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia 28, Primary ciliary dyskinesia 28 |
| RS761092656 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia 28, Primary ciliary dyskinesia 28 |
| RS934869420 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1060503107 | Health Risk | Pathogenic | Primary ciliary dyskinesia 28, Primary ciliary dyskinesia 28 |
| RS1229952265 | Health Risk | Pathogenic | Primary ciliary dyskinesia 28, Primary ciliary dyskinesia 28 |
| RS1244721341 | Health Risk | Pathogenic | Primary ciliary dyskinesia 28, Primary ciliary dyskinesia, Primary ciliary dyskinesia 28 |
| RS1254678434 | Health Risk | Pathogenic | Primary ciliary dyskinesia 28, Primary ciliary dyskinesia 28 |
| RS1258068273 | Health Risk | Pathogenic | Primary ciliary dyskinesia 28, Primary ciliary dyskinesia 28 |
| RS1275662909 | Health Risk | Pathogenic | Primary ciliary dyskinesia 28, Primary ciliary dyskinesia 28 |
| RS1380083184 | Health Risk | Pathogenic | Primary ciliary dyskinesia 28, Primary ciliary dyskinesia 28 |
| RS1434601711 | Health Risk | Pathogenic | Primary ciliary dyskinesia 28, Primary ciliary dyskinesia 28 |
| RS1563815206 | Health Risk | Pathogenic | Primary ciliary dyskinesia 28, Primary ciliary dyskinesia 28 |
| RS1816195552 | Health Risk | Pathogenic | Primary ciliary dyskinesia 28, Primary ciliary dyskinesia 28 |
| RS1816621138 | Health Risk | Pathogenic | Primary ciliary dyskinesia 28, Primary ciliary dyskinesia 28 |
| RS1817811676 | Health Risk | Pathogenic | Primary ciliary dyskinesia 28, Primary ciliary dyskinesia 28 |
| RS1818211696 | Health Risk | Pathogenic | Primary ciliary dyskinesia 28, Primary ciliary dyskinesia 28 |
| RS1818457032 | Health Risk | Pathogenic | Primary ciliary dyskinesia 28, Primary ciliary dyskinesia 28 |
| RS1819149009 | Health Risk | Pathogenic | Primary ciliary dyskinesia 28, Primary ciliary dyskinesia 28 |
| RS2132258789 | Health Risk | Pathogenic | Primary ciliary dyskinesia 28, Primary ciliary dyskinesia 28 |
| RS2132289617 | Health Risk | Pathogenic | Primary ciliary dyskinesia 28, Primary ciliary dyskinesia 28 |
| RS2132442885 | Health Risk | Pathogenic | Primary ciliary dyskinesia 28, Primary ciliary dyskinesia 28 |
| RS2489323420 | Health Risk | Pathogenic | Primary ciliary dyskinesia 28, Primary ciliary dyskinesia 28 |
| RS2489349339 | Health Risk | Pathogenic | Primary ciliary dyskinesia 28, Primary ciliary dyskinesia 28 |
| RS2489513250 | Health Risk | Pathogenic | Primary ciliary dyskinesia 28, Primary ciliary dyskinesia 28 |
| RS397518458 | Health Risk | Pathogenic | Primary ciliary dyskinesia 28, Primary ciliary dyskinesia 28 |
| RS397518459 | Health Risk | Pathogenic | Autosomal dominant nocturnal frontal lobe epilepsy 5, Autosomal dominant nocturnal frontal lobe epilepsy 5 |
| RS747483177 | Health Risk | Pathogenic | Primary ciliary dyskinesia 28, Primary ciliary dyskinesia 28 |
| RS749637114 | Health Risk | Pathogenic | Primary ciliary dyskinesia 28, Primary ciliary dyskinesia 28 |
| RS751103088 | Health Risk | Pathogenic | Primary ciliary dyskinesia 28, Primary ciliary dyskinesia 28 |