SPAG1

sperm associated antigen 1

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 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]

Known Variants381 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1422810888:101,173,796A/Gdownstream gene variant—
rs25146928:101,174,186C/A—benign
rs777836478:101,174,388C/T—likely benign
rs168980158:101,174,426A/G—benign
rs3975184588:101,174,510T/Gmissense variantpathogenic
rs24892712208:101,174,524T/C—uncertain significance
rs5501232648:101,174,596A/G—uncertain significance
rs12787775718:101,174,597T/C—uncertain significance
rs13478154078:101,174,611G/A—uncertain significance
rs7599069258:101,174,613T/G—uncertain significance
rs24892715958:101,174,634T/G—uncertain significance
rs3769862628:101,174,640C/T—likely benign
rs7644483158:101,174,641G/A—uncertain significance
rs10605031048:101,174,649G/A—pathogenic
rs563218308:101,174,943C/T—benign
rs22487688:101,177,757C/A—benign
rs22487678:101,177,766C/T—benign
rs743703048:101,177,835T/C—likely benign
rs761973378:101,177,994G/T—likely benign
rs5603361028:101,178,026T/C—likely benign
rs5292658118:101,178,042A/T—uncertain significance
rs3735957628:101,178,047G/A—uncertain significance
rs1492712658:101,178,106G/A—conflicting classifications of pathogenicity
rs14687476748:101,178,109C/G—uncertain significance
rs1444642178:101,178,140C/T—uncertain significance
rs14544462868:101,178,159T/C—likely benign
rs12207729348:101,178,189T/C—likely benign
rs11751889618:101,178,191G/A—conflicting classifications of pathogenicity
rs14622722818:101,178,193G/T—uncertain significance
rs24892808908:101,178,196A/G—uncertain significance
rs29351218:101,178,405A/G—benign
rs5282030818:101,182,837A/G——
rs5502103568:101,183,017T/C——
rs5677382658:101,184,929T/G——
rs7629770148:101,190,034C/T—likely benign
rs24893087388:101,190,042A/G—likely pathogenic
rs12756629098:101,190,054C/A—pathogenic
rs7524793308:101,190,062A/Tstop gainedpathogenic
rs5454863408:101,190,138G/A—uncertain significance
rs1479845468:101,190,141G/A—likely benign
rs9348694208:101,190,144C/G—likely pathogenic
rs1416055378:101,190,156T/C—conflicting classifications of pathogenicity
rs8957761248:101,190,162T/C—uncertain significance
rs13458076748:101,190,165G/A—uncertain significance
rs5559760648:101,190,544T/G——
rs1847198228:101,190,756T/Cintron variant—
rs1470907338:101,194,478T/Cupstream gene variant—
rs286836918:101,195,306A/G—benign
rs286738788:101,195,587G/T—benign
rs24893215458:101,195,588A/G—likely benign
rs24893215638:101,195,592T/C—likely benign
rs24893215708:101,195,595T/A—likely benign
rs7781364748:101,195,600T/C—uncertain significance
rs745973358:101,195,650C/T—benign
rs3761388628:101,195,651G/A—uncertain significance
rs3705052848:101,195,652C/T—uncertain significance
rs5672476088:101,195,653G/A—likely benign
rs13307655038:101,195,665G/A—likely pathogenic
rs7492194108:101,195,683T/C—likely benign
rs7720482328:101,196,177A/T—likely benign
rs7686876268:101,196,190C/T—likely benign
rs2015031908:101,196,191G/A—uncertain significance
rs9197476978:101,196,208A/C—uncertain significance
rs1884307518:101,196,213T/C—uncertain significance
rs12066369098:101,196,214T/C—likely benign
rs12775841188:101,196,215G/A—uncertain significance
rs3735641458:101,196,237C/T—uncertain significance
rs10566054098:101,196,238G/A—likely benign
rs7511428258:101,196,242A/G—conflicting classifications of pathogenicity
rs7544282568:101,196,243T/C—uncertain significance
rs1409868578:101,196,255A/C—uncertain significance
rs24893234208:101,196,291G/A—pathogenic
rs1888248458:101,196,630T/Cupstream gene variant—
rs24536568:101,196,824G/A—benign
rs353057818:101,196,856G/C—benign
rs1810686598:101,196,892G/A—uncertain significance
rs7516916738:101,196,899G/A—likely benign
rs7813606668:101,196,905A/G—likely benign
rs7699164668:101,196,908A/C—likely benign
rs24893251678:101,196,915G/C—uncertain significance
rs9181238328:101,196,922A/G—uncertain significance
rs355924938:101,196,929A/G—benign
rs12311846038:101,196,932T/C—likely benign
rs3975184598:101,196,939G/Tstop gainedpathogenic
rs3688686788:101,196,971T/A—likely benign
rs7590562118:101,196,979G/A—benign
rs1929547418:101,198,671G/Adownstream gene variant—
rs78225878:101,199,029G/A—benign
rs7553067418:101,199,359C/T—conflicting classifications of pathogenicity
rs12044377498:101,199,360G/A—likely benign
rs3721972608:101,199,380A/G—uncertain significance
rs24893311398:101,199,381T/C—likely benign
rs7491164808:101,199,386A/G—uncertain significance
rs7707773818:101,199,388C/T—pathogenic
rs24893312578:101,199,398C/G—uncertain significance
rs24893313208:101,199,426T/C—likely benign
rs1393294878:101,199,444A/C—uncertain significance
rs11871603458:101,199,447G/T—uncertain significance
rs1500071218:101,199,471C/T—likely benign
rs5567151008:101,199,472G/A—conflicting classifications of pathogenicity

Showing 100 of 381 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.