Entrez Gene ID | 9472 |
---|---|
Official Gene Symbol | AKAP6 (GeneCards) |
Full name | A-kinase anchoring protein 6 |
Location | 14q12 |
Other ids | Vega : OTTHUMG00000140207 MIM : 604691 HGNC : HGNC:376 Ensembl : ENSG00000151320 |
Other names | ADAP6, PRKA6, mAKAP, ADAP100, AKAP100 |
Summary | The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is highly expressed in various brain regions and cardiac and skeletal muscle. It is specifically localized to the sarcoplasmic reticulum and nuclear membrane, and is involved in anchoring PKA to the nuclear membrane or sarcoplasmic reticulum. [provided by RefSeq, Jul 2008] |
Found 7 variants in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
1162 | 9472 | AKAP6 | 14 | 33201692 | 33201692 | Autism Spectrum Disorders | NextSeq500 v2 |
18051 | 9472 | AKAP6 | 14 | 33045490 | 33045490 | Asymptomatic | NextSeq500 v2 HiSeq 2000 |
18165 | 9472 | AKAP6 | 14 | 32887188 | 32887188 | Asymptomatic | NextSeq500 v2 HiSeq 2000 HiSeq X Ten |
18405 | 9472 | AKAP6 | 14 | 33271763 | 33271763 | Asymptomatic | NextSeq500 v2 HiSeq 2000 HiSeq X Ten |
18494 | 9472 | AKAP6 | 14 | 33306227 | 33306227 | Asymptomatic | NextSeq500 v2 HiSeq 2000 HiSeq X Ten |
27804 | 9472 | AKAP6 | 14 | 32817908 | 32817908 | Asymptomatic | NextSeq500 v2 HiSeq 2000 HiSeq X Ten Single cell Sequencing Cell cloning |
29875 | 9472 | AKAP6 | 14 | 33201692 | 33201692 | Autism Spectrum Disorders | NextSeq500 v2 HiSeq 2000 HiSeq X Ten Single cell Sequencing Cell cloning NextSeq500 |