AKAP3
A-kinase anchoring protein 3
Summary
This gene encodes a member of A-kinase anchoring proteins (AKAPs), a family of functionally related proteins that target protein kinase A to discrete locations within the cell. The encoded protein is reported to participate in protein-protein interactions with the R-subunit of the protein kinase A as well as sperm-associated proteins. This protein is expressed in spermatozoa and localized to the acrosomal region of the sperm head as well as the length of the principal piece. It may function as a regulator of motility, capacitation, and the acrosome reaction. [provided by RefSeq, May 2013]
Known Variants60 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs138062855 | 12:4,724,966 | T/C | — | uncertain significance |
| rs34215645 | 12:4,724,995 | T/C | — | benign |
| rs564916393 | 12:4,725,012 | C/T | — | uncertain significance |
| rs1472519815 | 12:4,725,039 | C/T | — | uncertain significance |
| rs548189433 | 12:4,734,218 | T/A | — | — |
| rs1205449902 | 12:4,735,787 | T/C | — | uncertain significance |
| rs74060068 | 12:4,735,889 | C/T | — | uncertain significance |
| rs754852568 | 12:4,735,931 | T/C | — | uncertain significance |
| rs141092608 | 12:4,736,113 | C/G | — | uncertain significance |
| rs200052477 | 12:4,736,128 | G/A | — | uncertain significance |
| rs138981206 | 12:4,736,146 | T/A | — | uncertain significance |
| rs772254608 | 12:4,736,200 | T/A | — | uncertain significance |
| rs1475190872 | 12:4,736,204 | C/T | — | uncertain significance |
| rs775741286 | 12:4,736,210 | G/C | — | uncertain significance |
| rs146079915 | 12:4,736,215 | G/A | — | uncertain significance |
| rs374391591 | 12:4,736,273 | G/A | — | uncertain significance |
| rs768280942 | 12:4,736,339 | G/C | — | uncertain significance |
| rs1250372271 | 12:4,736,443 | C/T | — | uncertain significance |
| rs755068981 | 12:4,736,515 | T/C | — | likely benign |
| rs2498007760 | 12:4,736,531 | G/A | — | uncertain significance |
| rs2498008073 | 12:4,736,653 | A/G | — | likely benign |
| rs2498008278 | 12:4,736,707 | A/T | — | uncertain significance |
| rs1181259958 | 12:4,736,719 | C/T | — | uncertain significance |
| rs140732371 | 12:4,736,731 | G/A | — | likely benign |
| rs370019654 | 12:4,736,745 | C/G | — | uncertain significance |
| rs865957836 | 12:4,736,755 | G/A | — | uncertain significance |
| rs992814355 | 12:4,736,783 | T/G | — | uncertain significance |
| rs747740620 | 12:4,736,827 | T/C | — | uncertain significance |
| rs1352642265 | 12:4,736,873 | C/G | — | uncertain significance |
| rs776866871 | 12:4,736,894 | C/T | — | uncertain significance |
| rs1417447269 | 12:4,736,920 | T/C | — | uncertain significance |
| rs776817342 | 12:4,736,984 | C/A | — | uncertain significance |
| rs200943042 | 12:4,737,001 | G/A | — | uncertain significance |
| rs767482374 | 12:4,737,023 | T/C | — | uncertain significance |
| rs574180493 | 12:4,737,041 | T/C | — | uncertain significance |
| rs1287464797 | 12:4,737,101 | G/A | — | uncertain significance |
| rs753313428 | 12:4,737,170 | T/C | — | uncertain significance |
| rs756897893 | 12:4,737,191 | C/T | — | uncertain significance |
| rs1484559711 | 12:4,737,194 | C/T | — | uncertain significance |
| rs545087055 | 12:4,737,262 | C/T | — | uncertain significance |
| rs199990710 | 12:4,737,281 | G/A | — | likely benign |
| rs202231561 | 12:4,737,313 | T/C | — | likely benign |
| rs774264124 | 12:4,737,322 | C/T | — | uncertain significance |
| rs2498010974 | 12:4,737,385 | T/C | — | uncertain significance |
| rs772869615 | 12:4,737,395 | T/C | — | uncertain significance |
| rs776495822 | 12:4,737,482 | G/A | — | uncertain significance |
| rs139111565 | 12:4,737,488 | T/C | — | uncertain significance |
| rs763258102 | 12:4,737,530 | T/A | — | uncertain significance |
| rs1277278266 | 12:4,737,536 | G/A | — | uncertain significance |
| rs1945453432 | 12:4,737,547 | A/G | — | uncertain significance |
| rs762113417 | 12:4,737,650 | G/A | — | uncertain significance |
| rs750998559 | 12:4,737,656 | T/C | — | uncertain significance |
| rs781428229 | 12:4,737,679 | C/T | — | uncertain significance |
| rs757998308 | 12:4,737,817 | T/C | — | uncertain significance |
| rs746717018 | 12:4,737,832 | T/C | — | uncertain significance |
| rs201140446 | 12:4,737,889 | C/T | — | uncertain significance |
| rs753705565 | 12:4,737,892 | A/G | — | uncertain significance |
| rs964663097 | 12:4,737,895 | T/A | — | uncertain significance |
| rs61755981 | 12:4,737,900 | G/A | — | benign |
| rs150896332 | 12:4,747,319 | C/T | — | pathogenic |
Gene information from NCBI Gene. Variant classifications from ClinVar.