ST8SIA2 (ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2)

symbol:
ST8SIA2
locus group:
protein-coding gene
location:
15q26.1
gene_family:
Sialyltransferases
alias symbol:
STX|ST8SIA-II|HsT19690
alias name:
None
entrez id:
8128
ensembl gene id:
ENSG00000140557
ucsc gene id:
uc002bra.4
refseq accession:
NM_006011
hgnc_id:
HGNC:10870
approved reserved:
1999-06-11
15q26.1
基因染色体位置图

ST8SIA2(唾液酸转移酶8 α-2,8-唾液酸转移酶2)属于ST8SIA基因家族,该家族成员编码的酶负责催化α-2,8-唾液酸(一种糖分子)的转移反应,参与神经细胞黏附分子(NCAM)等多糖链的合成。ST8SIA2主要在神经系统中表达,其产物通过修饰NCAM上的多糖结构(称为PSA-NCAM)影响神经细胞迁移、突触可塑性及大脑发育。该基因的突变可能导致酶活性异常,与精神分裂症、双相情感障碍等精神疾病风险相关,动物模型中ST8SIA2缺失会减少PSA-NCAM水平,引发学习记忆障碍。过表达ST8SIA2可能增强神经再生能力,但异常高表达可能与肿瘤转移相关(因唾液酸化修饰参与癌细胞侵袭);而表达降低则可能导致神经发育异常或认知功能缺陷。ST8SIA基因家族的共性在于均含保守的唾液酸转移酶结构域,通过调节糖基化过程影响细胞间相互作用。目前"ST8SIA2"的中文译名存在差异,部分文献沿用英文缩写或译为"唾液酸转移酶ST8SIA2"(原英文:ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2)。

The protein encoded by this gene is a type II membrane protein that is thought to catalyze the transfer of sialic acid from CMP-sialic acid to N-linked oligosaccharides and glycoproteins. The encoded protein may be found in the Golgi apparatus and may be involved in the production of polysialic acid, a modulator of the adhesive properties of neural cell adhesion molecule (NCAM1). This protein is a member of glycosyltransferase family 29. [provided by RefSeq, Jul 2008]

由该基因编码的蛋白质是一个被认为催化唾液酸从CMP-唾液酸转移到N-连接寡糖和糖蛋白II型膜蛋白。所编码的蛋白质可在高尔基体中找到,并且可以涉及生产聚唾液酸,神经细胞粘附分子(NCAM1)的粘合性能的调节剂的。这种蛋白质是表[RefSeq的,2008年7月提供]糖基转移酶家族29成员

ST8SIA2基因的碱基序列:[NCBI]
Loading Gene Browser...
ST8SIA2基因的碱基突变:           仅显示部分snp
rs716628       rs722645       rs881770       rs897463       rs921846       rs1017672       rs1352323       rs1386771       rs1455777       rs1455778       rs1455779       rs1455780       rs1487982       rs1487984       rs1487985       rs1869774       rs1869775      

ST8SIA2基因在不同组织中的表达:    [UniProt]

基因在不同组织中的表达图
正向引物序列
正向Tm值
反向引物序列
反向Tm值
评分
AAGCATCAAGCACAACATCC
60
ATCTGCTTCCTGATCCTCAG
59
GAAATCGGGAATTCGGGAG
58
TCCCTTTAGGACAGAAATGTC
57
CTCTGAGGATCAGGAAGCA
59
ATATCTCCAGGCTTCAGGG
58
AGAAATCGGGAATTCGGGA
59
GCCGTTTATTACAACTTCAGC
58
AAGCATCAAGCACAACATCC
60
AATCTGCTTCCTGATCCTCAG
60
TCTGAGGATCAGGAAGCAG
59
ATATCTCCAGGCTTCAGGG
58
GAAATCGGGAATTCGGGAG
58
CCCTTTAGGACAGAAATGTCC
58
GGAGCTGAAGTTGTAATAAACG
58
AAATCTGCTTCCTGATCCTC
57
AGCATCAAGCACAACATCC
59
AATCTGCTTCCTGATCCTCAG
60
GAAATCGGGAATTCGGGAG
58
GCCGTTTATTACAACTTCAGC
58
      尚未收录相关数据

ST8SIA2基因(以及对应的蛋白质)的细胞分布位置:

[UniProt]     [GenomeNet]

" d="M482.414,245.296c3.539,4.293,4.455,10.009,0.202,11 c-4.244,0.996-4.983-10.983-8.293-8.438c-5.271,4.08,9.834,12.271,5.144,17.287c-3.717,3.607-6.172-5.75-10.839-1.976 c-4.673,3.776,6.781,7.299,2.831,11.326c-4.354,4.045-6.979-1.449-9.837-5.517c-1.193-1.742-2.059-3.851-3.595-2.748 c-1.516,1.078-1.854,1.795-0.938,3.666c2.374,4.854,9.235,10.119,5.156,12.535c-5.636,3.346-5.044-8.871-9.426-7.574 c-4.388,1.291,2.557,10.66-1.245,11.141c-4.089,0.545-3.483-10.239-6.979-8.575c-2.522,1.206-0.929,3.071-0.938,4.899 c0.004,1.32-0.964,3.6-2.372,4.062c-3.593,1.171-8.544-1.065-10.251-3.59c-6.04-8.93,0.396-15.997,4.639-7.015 c3.023,4.642,5.182,0.834,2.839-2.219c-1.032-1.354-4.309-5.901-0.781-7.252c2.904-1.113,4.271,1.941,5.985,4.592 c2.61,4.016,5.485,0.117,3.031-3.414c-1.828-2.633-2.74-3.803,3.156-7.42c6.405-4.369,6.52,3.869,10.077,0.646 c2.309-1.832-4.783-5.149,0.06-8.995c2.896-2.293,5.18,6.207,7.961,3.516c3.523-2.737-7.717-7.369,0.117-11.736 C473.413,240.77,480.519,242.891,482.414,245.296z"/> Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
  • 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

ST8SIA2基因的本体(GO)信息:

GO库代码
对应的蛋白质
来源代码
GO:0006486
C6G488 (UniProtKB)
IEA
GO:0008373
C6G488 (UniProtKB)
IEA
GO:0030173
C6G488 (UniProtKB)
IEA
GO:0097503
C6G488 (UniProtKB)
IEA
GO:0006486
G3V2T1 (UniProtKB)
IEA
GO:0008373
G3V2T1 (UniProtKB)
IEA
GO:0030173
G3V2T1 (UniProtKB)
IEA
GO:0097503
G3V2T1 (UniProtKB)
IEA
GO:0000139
Q92186 (UniProtKB)
TAS
GO:0000139
Q92186 (UniProtKB)
TAS
GO:0000139
Q92186 (UniProtKB)
TAS
GO:0001574
Q92186 (UniProtKB)
IDA
GO:0003828
Q92186 (UniProtKB)
IDA
GO:0003828
Q92186 (UniProtKB)
TAS
GO:0003828
Q92186 (UniProtKB)
TAS
GO:0003828
Q92186 (UniProtKB)
TAS
GO:0005769
Q92186 (UniProtKB)
IEA
GO:0005975
Q92186 (UniProtKB)
TAS
GO:0006464
Q92186 (UniProtKB)
TAS
GO:0006486
Q92186 (UniProtKB)
IDA
GO:0006491
Q92186 (UniProtKB)
IDA
GO:0007399
Q92186 (UniProtKB)
TAS
GO:0009311
Q92186 (UniProtKB)
IDA
GO:0030173
Q92186 (UniProtKB)
IEA
GO:0033691
Q92186 (UniProtKB)
IC
GO:0055037
Q92186 (UniProtKB)
IEA
GO:0097503
Q92186 (UniProtKB)
IEA
GO:0097503
Q92186 (UniProtKB)
IEA

可能调控 ST8SIA2基因的相关microRNA:     

Reactome

String

基因与其他基因之间的相互作用关系图
序号 作用方式 资源库来源/分值 基因名称 基因名称
疾病名称 关系值 NofPmids NofSnps 来源
疾病名称 关系值 NofPmids NofSnps 来源
Autistic Disorder 0.122909916 3 0 BeFree_CTD_human_GAD
Allergic rhinitis (disorder) 0.12 1 1 GWASCAT
Schizophrenia 0.00827274 3 0 BeFree_GAD_LHGDN
Bipolar Disorder 0.000814326 3 4 BeFree
Diarrhea 0.000542884 2 0 BeFree
Hemolytic-Uremic Syndrome 0.000542884 2 0 BeFree
Neuroblastoma 0.000542884 2 0 BeFree
Central neuroblastoma 0.000542884 2 0 BeFree
Non-Small Cell Lung Carcinoma 0.000271442 1 0 BeFree
Stage 4S neuroblastoma 0.000271442 1 0 BeFree

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