SHISA9
shisa family member 9
Summary
Predicted to enable PDZ domain binding activity. Predicted to be involved in regulation of postsynaptic neurotransmitter receptor activity and regulation of short-term neuronal synaptic plasticity. Predicted to act upstream of or within regulation of AMPA receptor activity. Predicted to be located in synapse. Predicted to be part of AMPA glutamate receptor complex. Predicted to be active in dendritic spine membrane; glutamatergic synapse; and postsynaptic density membrane. [provided by Alliance of Genome Resources, Apr 2025]
Known Variants50 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1232944959 | 16:12,996,006 | C/A | — | uncertain significance |
| rs2506145064 | 16:12,996,036 | T/G | — | uncertain significance |
| rs2071025848 | 16:12,996,039 | C/G | — | likely benign |
| rs751469363 | 16:12,996,106 | A/G | — | uncertain significance |
| rs1047070817 | 16:12,996,126 | C/G | — | uncertain significance |
| rs779627899 | 16:12,996,203 | C/G | — | uncertain significance |
| rs1032504331 | 16:12,996,247 | C/T | — | uncertain significance |
| rs1355387896 | 16:12,996,327 | G/A | — | uncertain significance |
| rs12925722 | 16:13,001,115 | T/C | intron variant | — |
| rs192122227 | 16:13,006,576 | C/T | regulatory region variant | — |
| rs75728421 | 16:13,008,434 | G/C | regulatory region variant | — |
| rs2506163966 | 16:13,010,571 | A/T | — | uncertain significance |
| rs990047194 | 16:13,010,573 | G/A | — | uncertain significance |
| rs948782420 | 16:13,010,591 | C/A | — | uncertain significance |
| rs376899363 | 16:13,010,614 | C/G | — | uncertain significance |
| rs1472963921 | 16:13,010,615 | G/A | — | uncertain significance |
| rs189948118 | 16:13,018,040 | A/T | intron variant | — |
| rs62029752 | 16:13,026,941 | A/G | intron variant | — |
| rs275401 | 16:13,031,195 | A/T | — | — |
| rs184105957 | 16:13,049,422 | A/T | intron variant | — |
| rs186068182 | 16:13,056,468 | T/C | intron variant | — |
| rs7192086 | 16:13,061,611 | T/G | — | — |
| rs113797187 | 16:13,077,464 | A/G | intron variant | — |
| rs4781383 | 16:13,112,335 | C/T | intron variant | — |
| rs1392953 | 16:13,126,766 | A/T | — | — |
| rs1501312 | 16:13,137,096 | G/T | upstream gene variant | — |
| rs4465599 | 16:13,154,878 | G/A | intron variant | — |
| rs75436471 | 16:13,179,128 | T/A | intron variant | — |
| rs62028918 | 16:13,183,336 | G/T | — | — |
| rs4781415 | 16:13,217,905 | A/G | intron variant | — |
| rs150063 | 16:13,238,897 | T/G | — | — |
| rs153091 | 16:13,253,956 | G/T | intron variant | — |
| rs751135088 | 16:13,297,280 | A/G | — | uncertain significance |
| rs537554312 | 16:13,297,335 | A/G | — | uncertain significance |
| rs149228 | 16:13,304,474 | A/G | — | — |
| rs751228461 | 16:13,307,137 | C/T | — | uncertain significance |
| rs879741742 | 16:13,328,914 | C/G | — | likely benign |
| rs762837579 | 16:13,328,918 | G/C | — | uncertain significance |
| rs1448805454 | 16:13,328,923 | G/C | — | uncertain significance |
| rs369282196 | 16:13,329,011 | C/A | — | uncertain significance |
| rs2051369814 | 16:13,329,018 | G/A | — | uncertain significance |
| rs1243820407 | 16:13,329,060 | C/T | — | uncertain significance |
| rs2506159708 | 16:13,329,082 | C/T | — | uncertain significance |
| rs181291048 | 16:13,502,901 | G/A | regulatory region variant | — |
| rs4780521 | 16:13,537,004 | A/T | — | — |
| rs13338621 | 16:13,586,717 | G/T | intron variant | — |
| rs115690621 | 16:13,587,082 | G/A | — | — |
| rs16962221 | 16:13,602,800 | G/A | intron variant | — |
| rs141129736 | 16:13,642,566 | A/G | intron variant | — |
| rs2903308 | 16:13,656,885 | A/G | downstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.