Sialic acid-binding immunoglobulin (Ig)-like lectins, or SIGLECs (e.g., CD33 (MIM 159590)), are a family of type 1 transmembrane proteins each having a unique expression pattern, mostly in hemopoietic cells. SIGLEC8 is a member of the CD33-like subgroup of SIGLECs, which are localized to 19q13.3-q13.4 and have 2 conserved cytoplasmic tyrosine-based motifs: an immunoreceptor tyrosine-based inhibitory motif, or ITIM (see MIM 604964), and a motif homologous to one identified in signaling lymphocyte activation molecule (SLAM; MIM 603492) that mediates an association with SLAM-associated protein (SAP; MIM 300490) (summarized by Foussias et al., 2000 [PubMed 11095983]).[supplied by OMIM, May 2010]
唾液酸结合免疫球蛋白(Ig)样凝集素,或SIGLECs(例如,CD33(MIM 159590)),是1型跨膜蛋白各自具有独特的表达模式,主要是在造血细胞的一个家族。 SIGLEC8是SIGLECs的CD33状亚组,其定位于19q13.3-q13.4和有2个保守的胞质基于酪氨酸的基序中的一员:一个基于免疫受体酪氨酸的抑制性基序,或ITIM(见MIM 604964),和一个基序同源的一个信令淋巴细胞激活分子识别(SLAM; MIM 603492),其介导与SLAM相关蛋白的关联(SAP; MIM 300490)(由Foussias总结等,2000 [搜索PubMed 11095983])[供给。通过OMIM,2010年5月]
SIGLEC8基因(以及对应的蛋白质)的细胞分布位置:
SIGLEC8基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Asthma | 0.003181358 | 3 | 0 | BeFree_GAD |
Alzheimer Disease, Late Onset | 0.000271442 | 1 | 0 | BeFree |
Hematologic Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Chronic Obstructive Airway Disease | 0.000271442 | 1 | 0 | BeFree |
Chronic sinusitis | 0.000271442 | 1 | 0 | BeFree |
Eosinophilic esophagitis | 0.000271442 | 1 | 0 | BeFree |
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