2. Gene
  3. NLRP2 - NLR family pyrin domain containing 2 Gene

NLRP2 - NLR family pyrin domain containing 2 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：含 NLR 家族 pyrin 结构域 2

种属: Homo sapiens

同用名: NBS1; PAN1; NALP2; PYPAF2; CLR19.9

基因 ID: 55655 | 基因类型: protein coding

关于 NLRP2

Cytogenetic location: 19q13.42 Genomic coordinates (GRCh38): 19:54,965,284-55,001,138 (from NCBI)

This gene has 19 transcripts (splice variants), 1 gene allele, 66 orthologues, 20 paralogues and is associated with 1 phenotype. Broad expression in placenta (RPKM 9.2), urinary bladder (RPKM 9.0) and 16 other tissues.

功能概要

该基因是核苷酸结合和富含亮氨酸重复受体 (NLR) 家族的成员，预计包含一个 N 端热蛋白效应结构域 (PYD) ，一个位于中心的核苷酸结合和寡聚化结构域 (NACHT) 和 C 端富含亮氨酸的重复序列 (LRR) 。该基因家族的成员被认为是免疫反应的重要调节因子。该基因产物与 IkB 激酶 (IKK) 复合物的成分相互作用，可以调节 Caspase-1 和 NF-kB (活化 B 细胞的核因子 kappa-轻链增强子) 活性。 pyrin 结构域对于抑制 NF-kB 活性是必要且充分的。已发现不能阻断 NF-kB 转录活性的等位基因变体 (rs147585490) 。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供，2016 年 12 月]

This gene is a member of the nucleotide-binding and leucine-rich repeat receptor (NLR) family, and is predicted to contain an N-terminal pyrin effector domain (PYD), a centrally-located nucleotide-binding and oligomerization domain (NACHT) and C-terminal leucine-rich repeats (LRR). Members of this gene family are thought to be important regulators of immune responses. This gene product interacts with components of the IkB kinase (IKK) complex, and can regulate both Caspase-1 and NF-kB (nuclear factor kappa-light-chain-enhancer of activated B cells) activity. The pyrin domain is necessary and sufficient for suppression of NF-kB activity. An allelic variant (rs147585490) has been found that is incapable of blocking the transcriptional activity of NF-kB. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016]

NLRP2 基因产物(5)

mRNA Protein Name
NM_001174081.3 NP_001167552.1 NACHT, LRR and PYD domains-containing protein 2 isoform 1
NM_001174082.3 NP_001167553.1 NACHT, LRR and PYD domains-containing protein 2 isoform 2
NM_001174083.2 NP_001167554.1 NACHT, LRR and PYD domains-containing protein 2 isoform 3
NM_001348003.2 NP_001334932.1 NACHT, LRR and PYD domains-containing protein 2 isoform 4
NM_017852.5 NP_060322.1 NACHT, LRR and PYD domains-containing protein 2 isoform 1
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables Pyrin domain binding IPI
IPI: 通过物理相互作用推断
15030775 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
15030775 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of non-canonical NF-kappaB signal transduction IGI
IGI: 通过遗传相互作用推断
15817483 GOA
involved in positive regulation of interleukin-1 beta production IDA
IDA: 通过直接分析推断
15030775 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
colocalizes with chromosome, telomeric region IDA
IDA: 通过直接分析推断
24270157 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
15030775 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

NLRP2 蛋白结构

PYRIN

PYRIN: PAAD/DAPIN/Pyrin domain (10 - 89)

NACHT

NACHT: NACHT domain (208 - 374)

LRR_6

LRR_6: Leucine Rich repeat (810 - 831)

LRR_6

LRR_6: Leucine Rich repeat (870 - 890)

LRR_6

LRR_6: Leucine Rich repeat (897 - 917)

LRR_6

LRR_6: Leucine Rich repeat (981 - 1002)

  • 0
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  • 1000
  • 1062 a.a.
蛋白主名 其他名称

NACHT, LRR and PYD domains-containing protein 2

NACHT, leucine rich repeat and PYD containing 2

NLRP2 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
NLRP2 Q9NX02 PYDC2 Homo sapiens Q56P42
Y2H
17178784
种属内
NLRP2 Q9NX02 PYDC2 Homo sapiens Q56P42
Confocal
17178784
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
Multisystem Inflammatory Syndrome In Children

Mis-C

Multisystem Inflammatory Disorder In Children And Adolescents

Paediatric Inflammatory Multisystemic Syndrome

Mic
Beckwith-Wiedemann Syndrome

Wiedemann-Beckwith Syndrome

BWS

Exomphalos-Macroglossia-Gigantism Syndrome

Emg Syndrome

Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation

Emg Abnormality

Wbs

Exomphalos Macroglossia Gigantism Syndrome

Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation

Macroglossia Exomphalos Gigantism
Immunodeficiency 15a

IMD15A
Gestational Trophoblastic Neoplasm

Hydatidiform Mole

Molar Pregnancy

Gestational Trophoblastic Neoplasia

Gestational Trophoblastic Tumor

Gtn

Gestational Trophoblastic Disease

Gestational Trophoblastic Neoplasms

Hydatidiform Mole, Recurrent, 1

Hydatidiform Mole Benign

Trophoblastic Disease

Trophoblastic Disease Nos

Trophoblastic Disorder

Vesicular Mole Nos

Vesicular Mole

Hydatidiform Mole Nos
Transient Neonatal Diabetes Mellitus

Diabetes Mellitus, Transient Neonatal

Tndm

Chromosome 6-Associated Transient Diabetes Mellitus

Dmtn

Diabetes Mellitus, 6q24-Related Transient Neonatal

Tndm1

Neonatal Diabetes Mellitus, Transient

Tndm -[Transient Neonatal Diabetes Mellitus]
Trophoblastic Neoplasm

Trophoblastic Tumor

Trophoblastic Neoplasms
Pseudohypoparathyroidism, Type Ib

Pseudohypoparathyroidism Type 1b

PHP1B

Pseudohypoparathyroidism Ib

Pseudohypoparathyroidism Type Ib

Php Ib

Pseudohypoparathyroidism 1b
Kagami-Ogata Syndrome

Paternal Uniparental Disomy Of Chromosome 14

Uniparental Disomy, Paternal, Chromosome 14

Kos

Mca Due To 14q32.2 Maternally Expressed Gene Defect

Paternal Uniparental Disomy 14

Kagami-Ogata Syndrome Due To Maternal 14q32.2 Microdeletion

Maternal Del(14)(Q32.2)

Maternal Monosomy 14q32.2

Kagami-Ogata Syndrome Due To Maternal 14q32.2 Hypermethylation

Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14

Upd(14)Pat
Silver-Russell Syndrome 1

Silver-Russell Syndrome

Russell-Silver Syndrome

Silver-Russell Dwarfism

Rss

SRS1

Srs

Silver Russell Dwarfism

Russell Silver Syndrome

Silver Russell Syndrome
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS09356 NLRP2 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus NLRP2 MGD MGI:3041206
Rattus norvegicus NLRP2 RGD RGD:1589140
Others NLRP2 NCBI
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