ACSS2
acyl-CoA synthetase short chain family member 2
Summary
This gene encodes a cytosolic enzyme that catalyzes the activation of acetate for use in lipid synthesis and energy generation. The protein acts as a monomer and produces acetyl-CoA from acetate in a reaction that requires ATP. Expression of this gene is regulated by sterol regulatory element-binding proteins, transcription factors that activate genes required for the synthesis of cholesterol and unsaturated fatty acids. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]
Known Variants57 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1388854975 | 20:33,464,478 | C/G | — | uncertain significance |
| rs747486877 | 20:33,464,528 | G/C | — | uncertain significance |
| rs771388973 | 20:33,464,534 | G/C | — | uncertain significance |
| rs2518771718 | 20:33,464,569 | G/A | — | uncertain significance |
| rs146486104 | 20:33,464,572 | C/A | — | benign |
| rs984380604 | 20:33,464,582 | A/G | — | uncertain significance |
| rs764139474 | 20:33,464,603 | G/C | — | uncertain significance |
| rs60379405 | 20:33,470,659 | C/T | — | uncertain significance |
| rs57031852 | 20:33,470,660 | G/A | — | likely benign |
| rs768784749 | 20:33,470,663 | A/T | — | uncertain significance |
| rs1243022183 | 20:33,470,698 | G/A | — | uncertain significance |
| rs8123210 | 20:33,486,047 | G/T | — | — |
| rs67719508 | 20:33,487,278 | T/C | intron variant | — |
| rs3787215 | 20:33,493,877 | A/T | — | — |
| rs1286003582 | 20:33,500,935 | A/G | — | likely benign |
| rs1266608902 | 20:33,500,969 | A/G | — | uncertain significance |
| rs377726493 | 20:33,501,230 | G/A | — | uncertain significance |
| rs112012777 | 20:33,501,271 | C/T | — | uncertain significance |
| rs143832046 | 20:33,501,583 | T/C | — | uncertain significance |
| rs148166087 | 20:33,501,946 | G/C | — | uncertain significance |
| rs61014667 | 20:33,502,162 | C/T | — | benign |
| rs201041169 | 20:33,502,170 | G/A | — | uncertain significance |
| rs780140788 | 20:33,502,211 | C/A | — | uncertain significance |
| rs1175161715 | 20:33,502,214 | A/G | — | likely benign |
| rs776492077 | 20:33,503,031 | A/T | — | uncertain significance |
| rs61359113 | 20:33,507,301 | T/A | — | benign |
| rs57092223 | 20:33,507,324 | C/T | — | likely benign |
| rs180979040 | 20:33,507,325 | G/A | — | uncertain significance |
| rs370544852 | 20:33,507,330 | C/T | — | likely benign |
| rs59126805 | 20:33,508,358 | T/C | — | benign |
| rs60867847 | 20:33,508,395 | G/A | — | likely benign |
| rs1250767480 | 20:33,508,457 | C/T | — | uncertain significance |
| rs201418139 | 20:33,508,471 | G/A | — | uncertain significance |
| rs376950557 | 20:33,508,887 | A/G | — | uncertain significance |
| rs58845949 | 20:33,508,906 | G/A | — | uncertain significance |
| rs2518971929 | 20:33,508,927 | A/T | — | uncertain significance |
| rs934925605 | 20:33,509,141 | G/A | — | uncertain significance |
| rs1568998875 | 20:33,509,214 | G/C | — | likely benign |
| rs144061380 | 20:33,509,221 | G/T | — | uncertain significance |
| rs779038706 | 20:33,509,366 | C/G | — | uncertain significance |
| rs200628498 | 20:33,509,377 | G/A | — | uncertain significance |
| rs2518975267 | 20:33,509,384 | C/A | — | uncertain significance |
| rs58314413 | 20:33,509,394 | C/T | — | likely benign |
| rs746685443 | 20:33,509,395 | G/A | — | uncertain significance |
| rs59088485 | 20:33,509,608 | T/C | — | uncertain significance |
| rs2518977027 | 20:33,509,626 | A/G | — | uncertain significance |
| rs372652815 | 20:33,509,640 | G/A | — | uncertain significance |
| rs59116442 | 20:33,509,655 | G/A | — | uncertain significance |
| rs768719024 | 20:33,513,501 | G/C | — | uncertain significance |
| rs142513718 | 20:33,513,939 | A/G | — | benign |
| rs1242849536 | 20:33,513,955 | G/A | — | uncertain significance |
| rs767041380 | 20:33,514,003 | G/A | — | uncertain significance |
| rs1406777510 | 20:33,514,039 | G/A | — | uncertain significance |
| rs58735881 | 20:33,514,065 | C/T | — | likely benign |
| rs188382128 | 20:33,514,221 | C/A | downstream gene variant | — |
| rs754303246 | 20:33,514,701 | T/C | — | uncertain significance |
| rs2081339032 | 20:33,514,992 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.