1. Gene
  2. KLRC4 - killer cell lectin like receptor C4 Gene

KLRC4 - killer cell lectin like receptor C4 Gene

中文名称:杀伤细胞凝集素样受体 C4

种属: Homo sapiens

同用名: NKG2F; NKG2-F

基因 ID: 8302 | 基因类型: protein coding

关于 KLRC4

Cytogenetic location: 12p13.2 Genomic coordinates (GRCh38): 12:10,407,384-10,409,757 (from NCBI)

This gene has 1 transcript (splice variant), 368 orthologues, 23 paralogues and is associated with 1 phenotype. Broad expression in spleen (RPKM 6.6), lymph node (RPKM 3.0) and 17 other tissues.

功能概要

自然杀伤 (NK) 细胞是淋巴细胞,无需预先激活即可介导某些肿瘤细胞和病毒感染细胞的裂解。它们还可以调节特定的体液免疫和细胞介导的免疫。 NK 细胞优先表达几种钙依赖性 (C 型) 凝集素,这些凝集素与 NK 细胞功能的调节有关。该基因是主要在自然杀伤 (NK) 细胞中表达的 NKG2 基因组的成员。这些家族成员编码跨膜蛋白,其特征在于 II 型膜方向 (具有细胞外 C 末端) 和 C 型凝集素结构域的存在。该家族成员位于 NK 复合体中,该区域包含几个优先在 NK 细胞中表达的 C 型凝集素基因。该基因与下游 KLRK1 (杀伤细胞凝集素样受体亚家族 K,成员 1) 家族成员之间存在通读转录。[RefSeq 提供,2010 年 12 月]

Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. NK cells preferentially express several calcium-dependent (C-type) lectins, which have been implicated in the regulation of NK cell function. This gene is a member of the NKG2 group of genes that are expressed primarily in natural killer (NK) cells. These family members encode transmembrane proteins that are characterized by a type II membrane orientation (have an extracellular C-terminus) and the presence of a C-type lectin domain. This family member is located within the NK complex, a region that contains several C-type lectin genes preferentially expressed in NK cells. Read-through transcription exists between this gene and the downstream KLRK1 (killer cell lectin-like receptor subfamily K, member 1) family member. [provided by RefSeq, Dec 2010]

KLRC4 基因产物(1)

mRNA Protein Name
NM_013431.2 NP_038459.1 NKG2-F type II integral membrane protein
蛋白主名 其他名称

NKG2-F type II integral membrane protein

NK cell receptor F

关联疾病

疾病名称 别名
Behcet Syndrome

Behcet Disease

Behcet'S Syndrome

Behcet'S Disease

Behçet Disease

Bd

Adamantiades-Behcet Disease

Triple Symptom Complex

Behçet'S Disease

Behet'S Syndrome

Bd Syndrome

Behçet Syndrome

Behçet'S Syndrome

Behcet Triple Symptom Complex

Malignant Aphthosis

Old Silk Route Disease

Adamantiades-Behçet Disease

Immunodeficiency 31a

Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Stat1 Deficiency

IMD31A

Immunodeficiency 31a, Mycobacteriosis, Autosomal Dominant

Stat1 Deficiency, Autosomal Dominant

Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Signal Transducer And Activator Of Transcription 1 Deficiency

Msmd Due To Partial Signal Transducer And Activator Of Transcription 1 Deficiency

Msmd Due To Partial Stat1 Deficiency

Autosomal Dominant Immunodeficiency 31a, Mycobacteriosis

Immunodeficiency, Type 31a, Mycobacteriosis, Autosomal Dominant

Immunodeficiency 31c

IMD31C

Candidiasis, Familial, 7

Candf7

Candidiasis, Familial Chronic Mucocutaneous, Autosomal Dominant

Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome

Autoimmune Enteropathy And Endocrinopathy - Susceptibility To Chronic Infections Syndrome

Immunodeficiency 31c, Chronic Mucocutaneous Candidiasis, Autosomal Dominant

Autosomal Dominant Chronic Mucocutaneous Familial Candidiasis

Autosomal Dominant Immunodeficiency 31c

Familial Candidiasis 7

Chronic Mucocutaneous Candidiasis 7

Immunodeficiency 31c, Autosomal Dominant

Immunodeficiency, Type 31c, Autosomal Dominant

Aphthous Stomatitis

Oral Ulcer

Canker Sore

Aphtha

Aphthous Ulceration

Oral Aphthae

Oral Aphthous Ulcer

Canker Sores

Stomatitis, Aphthous

Minor Oral Aphthous Ulceration

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