CLEC12A (C-type lectin domain family 12 member A)
- symbol:
- CLEC12A
- locus group:
- protein-coding gene
- location:
- 12p13.31
- gene_family:
- C-type lectin domain family
- alias symbol:
- CLL-1|MICL|CD371|DCAL-2
- alias name:
- dendritic cell-associated lectin 2…
- entrez id:
- 160364
- ensembl gene id:
- ENSG00000172322
- ucsc gene id:
- uc001qwq.3
- refseq accession:
- NM_138337
- hgnc_id:
- HGNC:31713
- approved reserved:
- 2005-02-09
This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signaling, glycoprotein turnover, and roles in inflammation and immune response. The protein encoded by this gene is a negative regulator of granulocyte and monocyte function. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. This gene is closely linked to other CTL/CTLD superfamily members in the natural killer gene complex region on chromosome 12p13. [provided by RefSeq, May 2011]
该基因编码超家族的C-型凝集素/ C-型凝集素样结构域（CTL / CTLD）的成员。这家人共享一个共同的蛋白折叠，并有不同的功能，例如细胞粘附，细胞 - 细胞信号传导，糖蛋白周转和角色在炎症和免疫反应的成员。由该基因编码的蛋白质是粒细胞和单核细胞功能的负调节剂。这个基因的几种可变剪接转录物变体已有描述，但其中的一些变体的全长性质尚未确定。该基因是密切相关的其他CTL / CTLD家族成员在自然杀伤基因复合体区域的12p13染色体。 [由RefSeq的，2011年5月提供]
基因本体信息
CLEC12A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
CLEC12A基因的本体（GO）信息：
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Rheumatoid Arthritis | 0.120271442 | 2 | 0 | BeFree_CTD_human |
| Leukemia, Myelocytic, Acute | 0.00272435 | 1 | 0 | LHGDN |
| Inflammation | 0.00272435 | 1 | 0 | LHGDN |
| Chronic Lymphocytic Leukemia | 0.000542884 | 2 | 0 | BeFree |
| Lymphoma | 0.000271442 | 1 | 0 | BeFree |
| Monoclonal Gammopathy of Undetermined Significance | 0.000271442 | 1 | 1 | BeFree |
| Neoplasm, Residual | 0.000271442 | 1 | 0 | BeFree |
| MULTICYSTIC RENAL DYSPLASIA, BILATERAL | 0.000271442 | 1 | 0 | BeFree |
| Splenic Marginal Zone B-Cell Lymphoma | 0.000271442 | 1 | 1 | BeFree |
| Waldenstrom Macroglobulinemia | 0.000271442 | 1 | 1 | BeFree |
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