| Entrez Gene ID | 113146 |
|---|---|
| Official Gene Symbol | AHNAK2 (GeneCards) |
| Full name | AHNAK nucleoprotein 2 |
| Location | 14q32.33 |
| Other ids | Vega : OTTHUMG00000170765 MIM : 608570 HGNC : HGNC:20125 Ensembl : ENSG00000185567 |
| Other names | C14orf78 |
| Summary | This gene encodes a large nucleoprotein. The encoded protein has a tripartite domain structure with a relatively short N-terminus and a long C-terminus, separated by a large body of repeats. The N-terminal PSD-95/Discs-large/ZO-1 (PDZ)-like domain is thought to function in the formation of stable homodimers. The encoded protein may play a role in calcium signaling by associating with calcium channel proteins. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2017] |
Found 3 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 29374 | 113146 | AHNAK2 | 14 | 105413930 | 105413930 | Autism Spectrum Disorders | MiSeq |
| 29379 | 113146 | AHNAK2 | 14 | 105413494 | 105413494 | Autism Spectrum Disorders | MiSeq |
| 29565 | 113146 | AHNAK2 | 14 | 105416714 | 105416714 | Autism Spectrum Disorders | MiSeq |