1. Gene
  2. SIGLEC8 - sialic acid binding Ig like lectin 8 Gene

SIGLEC8 - sialic acid binding Ig like lectin 8 Gene

中文名称:唾液酸结合 Ig 样凝集素 8

种属: Homo sapiens

同用名: SAF2; SIGLEC-8; SIGLEC8L

基因 ID: 27181 | 基因类型: protein coding

关于 SIGLEC8

Cytogenetic location: 19q13.41 Genomic coordinates (GRCh38): 19:51,450,997-51,458,454 (from NCBI)

This gene has 4 transcripts (splice variants), 91 orthologues and 16 paralogues. Broad expression in lymph node (RPKM 2.6), spleen (RPKM 2.6) and 14 other tissues.

功能概要

唾液酸结合免疫球蛋白 (Ig) 样凝集素或 Siglec (例如,CD33 (MIM 159590) ) 是 1 型跨膜蛋白家族,每种跨膜蛋白均具有独特的表达模式,主要存在于造血细胞中。 SIGLEC8 是 SiglecCD33 样亚组的成员,其定位于 19q13.3-q13.4 并具有 2 个基于细胞质酪氨酸的保守基序:基于免疫受体酪氨酸的抑制基序或 ITIM (参见 MIM 604964) ,以及与信号淋巴细胞激活分子 (SLAM;MIM 603492) 中鉴定的基序同源的基序,它介导与 SLAM 相关蛋白 (SAP;MIM 300490) 的关联 (由 Foussias 等人总结,2000 [PubMed 11095983]) 。[提供 OMIM,2010 年 5 月]

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]

SIGLEC8 基因产物(2)

mRNA Protein Name
NM_001363548.1 NP_001350477.1 sialic acid-binding Ig-like lectin 8 isoform 2 precursor
NM_014442.3 NP_055257.2 sialic acid-binding Ig-like lectin 8 isoform 1 precursor

SIGLEC8 蛋白结构

V-set

V-set: Immunoglobulin V-set domain (32 - 129)

ig

ig: Immunoglobulin domain (170 - 226)

Ig_2

Ig_2: Immunoglobulin domain (272 - 342)

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  • 499 a.a.
蛋白主名 其他名称

sialic acid-binding Ig-like lectin 8

CDw329

重组 SIGLEC8 蛋白

目录号 产品名 蛋白编号 纯度
HY-P71312 Siglec-8 Protein, Human (HEK293, Fc) Q9NYZ4 (M17-A363) ≥95%
HY-P71313 Siglec-8 Protein, Human (HEK293, His) Q9NYZ4 (M17-A363) ≥95%
HY-P78204 Siglec-8 Protein, Human (Biotinylated, HEK293, His-Avi) Q9NYZ4 (M17-A363) ≥95%
HY-P78513 Siglec-8 Protein, Human (HEK293, His-Avi) Q9NYZ4 (M17-A363) ≥95%

关联疾病

疾病名称 别名
Eosinophilic Gastritis

Eosinophilic Enteropathy

Chronic Inducible Urticaria
Indolent Systemic Mastocytosis

Ism

Duodenitis

Hemorrhagic Duodenitis

Acute Enteritis Of The Mouse Intestinal Tract

Nonspecific Duodenitis

Inflammation Of Duodenum

Dodecadactylitis

Duodenal Inflammation

Peptic Duodenitis

Eosinophilic Gastroenteritis

Eosinophilic Enteritis

Ege

Eosinophilic Gastroenterocolitis

Eosinophilic Esophagitis

Eosinophilic Gastritis

Eosinophilic Gastroenteropathy

Gastroenteritis, Eosinophilic

Eosinophilic Enteropathy

Congenital Disorder Of Glycosylation, Type Iic

CDG2C

Congenital Disorder Of Glycosylation Type Iic

Leukocyte Adhesion Deficiency Type Ii

Cdg Iic

Cdgiic

Rambam-Hasharon Syndrome

Leukocyte Adhesion Deficiency, Type Ii

Lad2

Leukocyte Adhesion Deficiency 2

Cdg-Iic

Congenital Disorder Of Glycosylation, Type 2c

Rhs

Cdg Syndrome Type Iic

Lad-Ii

Rambam Hasharon Syndrome

Congenital Disorder Of Glycosylation 2c

Glycosylation, Congenital Disorder Of, Type Iic

Chronic Spontaneous Urticaria

Chronic Idiopathic Urticaria

Esophagitis, Eosinophilic, 1

Eosinophilic Esophagitis

EOE1

Esophagitis, Eosinophilic

Ee

Chronic Eosinophilic Leukemia

Pdgfra-Associated Chronic Eosinophilic Leukemia

Chronic Frontal Sinusitis
Dermatographia

Dermatographic Urticaria

Dermographism

Symptomatic Dermographism

Urticaria Factitia

Factitious Urticaria

Dermatographism

Aggressive Systemic Mastocytosis

Asm

Lymphadenopathic Mastocytosis With Eosinophilia

疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus SIGLEC8 RGD RGD:1563073
Mus musculus SIGLEC8 NCBI
Others SIGLEC8 NCBI