SEZ6L2 (seizure related 6 homolog like 2)
- symbol:
- SEZ6L2
- locus group:
- protein-coding gene
- location:
- 16p11.2
- gene_family:
- alias symbol:
- PSK-1|FLJ90517
- alias name:
- type I transmembrane receptor (sei…
- entrez id:
- 26470
- ensembl gene id:
- ENSG00000174938
- ucsc gene id:
- uc002dup.5
- refseq accession:
- NM_012410
- hgnc_id:
- HGNC:30844
- approved reserved:
- 2004-07-12
This gene encodes a seizure-related protein that is localized on the cell surface. The gene is located in a region of chromosome 16p11.2 that is thought to contain candidate genes for autism spectrum disorders (ASD), though there is no evidence directly implicating this gene in ASD. Increased expression of this gene has been found in lung cancers, and the protein is therefore considered to be a novel prognostic marker for lung cancer. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]
该基因编码是在细胞表面上的局部癫痫发作相关的蛋白。该基因位于被认为含有对自闭症候选基因（ASD）染色体16p11.2的一个区域，虽然没有证据直接牵连在ASD这种基因。该基因的表达增加已经在肺癌被发现，因此，该蛋白被认为是肺癌的新的预后标志物。这个基因的选择性剪接的结果在多个转录变体。 [由RefSeq的，2011年8月提供]
基因本体信息
SEZ6L2基因（以及对应的蛋白质）的细胞分布位置：
- 质膜
- 细胞质
- 细胞外
- 高尔基体
- 囊泡
- 细胞骨架
- 内质网
- 细胞核
- 内体
- 溶酶体
- 线粒体
SEZ6L2基因的本体（GO）信息：
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Autistic Disorder | 0.122638474 | 1 | 0 | BeFree_CTD_human_GAD |
| Stomach Carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Malignant neoplasm of stomach | 0.000542884 | 2 | 0 | BeFree |
| Small cell carcinoma of lung | 0.000271442 | 1 | 0 | BeFree |
| Neuropil Threads | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of lung | 0.000271442 | 1 | 0 | BeFree |
| Senile Plaques | 0.000271442 | 1 | 0 | BeFree |
| Dementia | 0.000271442 | 1 | 0 | BeFree |
| Atrial Septal Defects | 0.000271442 | 1 | 0 | BeFree |
| Klinefelter Syndrome | 0.000271442 | 1 | 0 | BeFree |
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