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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
人类
KLRC1 - Killer Cell Lectin Like Receptor C1
Alias:
NKG2
NKG2A
CD159A
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
自然杀伤(NK)细胞是可以在不需要先前激活的情况下介导特定肿瘤细胞和病毒感染细胞溶解的淋巴细胞。它们还可以调节特定的体液和细胞介导的免疫。这个基因编码的蛋白质属于杀手细胞凝集素样受体家族,也称为NKG2家族,这是一组优先在NK细胞中表达的跨膜蛋白质。这个蛋白质家族的特点是II型膜取向和C型凝集素域的存在。这个蛋白质与另一个家族成员KLRD1/CD94形成复合物,并被认为在NK细胞中识别MHC I类HLA-E分子。NKG2家族成员的基因在染色体12上形成一个杀手细胞凝集素样受体基因簇。已经观察到了编码不同异构体的多种可变剪接转录变异体。[RefSeq,2015年1月提供]
Related ID:
NCBI:3821
ENSEMBL:ENSG00000134545
HGNC:6374
UNIPROT:P26715
OMIM:161555
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
3821
5
7
12422 bp
26.31
6
--
6
23
KLRC1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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