1. Gene
  2. SIGLEC12 - sialic acid binding Ig like lectin 12 Gene

SIGLEC12 - sialic acid binding Ig like lectin 12 Gene

中文名称:唾液酸结合 Ig 样凝集素 12

种属: Homo sapiens

同用名: S2V; SLG; SIGLECL1; Siglec-XII

基因 ID: 89858 | 基因类型: protein coding

关于 SIGLEC12

Cytogenetic location: 19q13.41 Genomic coordinates (GRCh38): 19:51,491,227-51,501,800 (from NCBI)

This gene has 3 transcripts (splice variants), 81 orthologues and 16 paralogues. Biased expression in spleen (RPKM 5.4), appendix (RPKM 3.1) and 9 other tissues.

功能概要

唾液酸结合免疫球蛋白样凝集素 (Siglec) 是属于免疫球蛋白超家族的细胞表面蛋白家族。它们通过选择性结合存在于糖脂和糖蛋白上的不同唾液酸部分来介导蛋白质-碳水化合物相互作用。该基因编码 Siglec 类 SIGLEC3 亚家族的成员。该亚家族成员的特征在于细胞外 V 组免疫球蛋白样结构域,后跟两个 C2 组免疫球蛋白样结构域,以及基于细胞质酪氨酸的基序 ITIM 和 SLAM 样。编码的蛋白质在酪氨酸磷酸化后已显示可募集含有 Src 同源 2 结构域的蛋白质酪氨酸磷酸酶 SHP1 和 SHP2。有人提出,该蛋白质通过作为抑制性受体发挥作用,参与巨噬细胞信号传导的负调节。该基因与 19q13.4 上的其他 SIGLEC3 样基因位于一个簇中。可变剪接导致多个转录本变体。[RefSeq 提供,2013 年 8 月]

Sialic acid-binding immunoglobulin-like lectins (SIGLECs) are a family of cell surface proteins belonging to the immunoglobulin superfamily. They mediate protein-carbohydrate interactions by selectively binding to different sialic acid moieties present on glycolipids and glycoproteins. This gene encodes a member of the SIGLEC3-like subfamily of SIGLECs. Members of this subfamily are characterized by an extracellular V-set immunoglobulin-like domain followed by two C2-set immunoglobulin-like domains, and the cytoplasmic tyrosine-based motifs ITIM and SLAM-like. The encoded protein, upon tyrosine phosphorylation, has been shown to recruit the Src homology 2 domain-containing protein-tyrosine phosphatases SHP1 and SHP2. It has been suggested that the protein is involved in the negative regulation of macrophage signaling by functioning as an inhibitory receptor. This gene is located in a cluster with Other SIGLEC3-like genes on 19q13.4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

SIGLEC12 基因产物(3)

mRNA Protein Name
NM_001412258.1 NP_001399187.1 sialic acid-binding Ig-like lectin 12 isoform c
NM_033329.2 NP_201586.1 sialic acid-binding Ig-like lectin 12 isoform b precursor
NM_053003.4 NP_443729.1 sialic acid-binding Ig-like lectin 12 isoform a precursor
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

SIGLEC12 蛋白结构

V-set

V-set: Immunoglobulin V-set domain (29 - 141)

V-set

V-set: Immunoglobulin V-set domain (156 - 269)

C2-set_2

C2-set_2: CD80-like C2-set immunoglobulin domain (286 - 347)

Ig_2

Ig_2: Immunoglobulin domain (391 - 455)

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  • 595 a.a.
蛋白主名 其他名称

sialic acid-binding Ig-like lectin 12

SIGLEC-like 1

SIGLEC12 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
SIGLEC12 Q96PQ1 TMPRSS4 Homo sapiens Q9NRS4 32296183
种属内
SIGLEC12 Q96PQ1 MGST1 Homo sapiens P10620 32296183
种属内
SIGLEC12 Q96PQ1 MGST1 Homo sapiens P10620 32296183
种属内
SIGLEC12 Q96PQ1 YIPF1 Homo sapiens Q9Y548 32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Craniotubular Dysplasia, Ikegawa Type

CTDI

Craniotubular Dysplasia Ikegawa Type

Doid:0112340

Non-Invasive Bladder Papillary Urothelial Neoplasm

Bladder Papillary Neoplasm Of Low Malignant Potential

Bladder Punlmp

Papillary Urothelial Neoplasm Of Low Malignant Potential

Papillary Transitional Cell Neoplasm Of Low Malignant Potential

Drug-Induced Lupus Erythematosus

Dile

Dil

Drug-Induced Systemic Lupus Erythematosus

Bladder Papillary Transitional Cell Neoplasm

Urinary Bladder Papillary Urothelial Neoplasm

Bladder Papillary Urothelial Neoplasm

Urinary Tract Papillary Transitional Cell Benign Neoplasm

Inverted Papilloma Of Urinary Tract

Papillary Transitional Cell Neoplasm Of The Urinary Tract

Urinary Tract Inverted Papilloma

Inverted Urothelial Papilloma

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
Mus musculus SIGLEC12 MGD MGI:1932475