| Entrez Gene ID | 9863 |
|---|---|
| Official Gene Symbol | MAGI2 (GeneCards) |
| Full name | membrane associated guanylate kinase, WW and PDZ domain containing 2 |
| Location | 7q21.11 |
| Other ids | Vega : OTTHUMG00000130697 MIM : 606382 HGNC : HGNC:18957 Ensembl : ENSG00000187391 |
| Other names | AIP1, AIP-1, ARIP1, SSCAM, MAGI-2, ACVRIP1 |
| Summary | The protein encoded by this gene interacts with atrophin-1. Atrophin-1 contains a polyglutamine repeat, expansion of which is responsible for dentatorubral and pallidoluysian atrophy. This encoded protein is characterized by two WW domains, a guanylate kinase-like domain, and multiple PDZ domains. It has structural similarity to the membrane-associated guanylate kinase homologue (MAGUK) family. [provided by RefSeq, Jul 2008] |
Found 22 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 10351 | 9863 | MAGI2 | 7 | 78642927 | 78642927 | Asymptomatic | HiSeq X Ten |
| 10487 | 9863 | MAGI2 | 7 | 78507252 | 78507252 | Asymptomatic | HiSeq X Ten |
| 10532 | 9863 | MAGI2 | 7 | 78278923 | 78278923 | Asymptomatic | HiSeq X Ten |
| 10617 | 9863 | MAGI2 | 7 | 78480191 | 78480191 | Asymptomatic | HiSeq X Ten |
| 10626 | 9863 | MAGI2 | 7 | 78488486 | 78488486 | Asymptomatic | HiSeq X Ten |
| 10737 | 9863 | MAGI2 | 7 | 79057524 | 79057524 | Asymptomatic | HiSeq X Ten |
| 10760 | 9863 | MAGI2 | 7 | 78974077 | 78974077 | Asymptomatic | HiSeq X Ten |
| 10823 | 9863 | MAGI2 | 7 | 79037777 | 79037777 | Asymptomatic | HiSeq X Ten |
| 10957 | 9863 | MAGI2 | 7 | 78636458 | 78636458 | Asymptomatic | HiSeq X Ten |
| 11001 | 9863 | MAGI2 | 7 | 78193041 | 78193041 | Asymptomatic | HiSeq X Ten |
| 11002 | 9863 | MAGI2 | 7 | 79075775 | 79075775 | Asymptomatic | HiSeq X Ten |
| 11087 | 9863 | MAGI2 | 7 | 78033512 | 78033512 | Asymptomatic | HiSeq X Ten |
| 11088 | 9863 | MAGI2 | 7 | 78128859 | 78128859 | Asymptomatic | HiSeq X Ten |
| 11128 | 9863 | MAGI2 | 7 | 78241136 | 78241136 | Asymptomatic | HiSeq X Ten |
| 11142 | 9863 | MAGI2 | 7 | 78109739 | 78109739 | Asymptomatic | HiSeq X Ten |
| 11143 | 9863 | MAGI2 | 7 | 78134529 | 78134529 | Asymptomatic | HiSeq X Ten |
| 11288 | 9863 | MAGI2 | 7 | 77786022 | 77786022 | Asymptomatic | HiSeq X Ten |
| 11289 | 9863 | MAGI2 | 7 | 78935786 | 78935786 | Asymptomatic | HiSeq X Ten |
| 11308 | 9863 | MAGI2 | 7 | 78969585 | 78969585 | Asymptomatic | HiSeq X Ten |
| 11351 | 9863 | MAGI2 | 7 | 78505216 | 78505216 | Cockayne syndrome | HiSeq X Ten |
| 23285 | 9863 | MAGI2 | 7 | 77786146 | 77786146 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
| 26509 | 9863 | MAGI2 | 7 | 78269097 | 78269097 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |