1. Gene
  2. NLRC4 - NLR family CARD domain containing 4 Gene

NLRC4 - NLR family CARD domain containing 4 Gene

中文名称:含 NLR 家族 CARD 结构域 4

种属: Homo sapiens

同用名: CLAN; IPAF; AIFEC; CLAN1; CLANA; CLANB; CLANC; CLAND; FCAS4; CARD12; CLR2.1

基因 ID: 58484 | 基因类型: protein coding

关于 NLRC4

Cytogenetic location: 2p22.3 Genomic coordinates (GRCh38): 2:32,224,449-32,265,743 (from NCBI)

This gene has 5 transcripts (splice variants), 154 orthologues, 7 paralogues and is associated with 4 phenotypes. Broad expression in appendix (RPKM 5.7), bone marrow (RPKM 3.2) and 17 other tissues.

功能概要

该基因编码含有半胱天冬酶募集结构域的 NLR 家族成员。家族成员在针对多种病原体、组织损伤和其他细胞应激的先天免疫反应中起着至关重要的作用。该基因的突变会导致婴儿小肠结肠炎的自身炎症。可变剪接导致多个转录本变体。[RefSeq 提供,2014 年 10 月]

This gene encodes a member of the Caspase recruitment domain-containing NLR family. Family members play essential roles in innate immune response to a wide range of pathogenic organisms, tissue damage and Other cellular stresses. Mutations in this gene result in autoinflammation with infantile enterocolitis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]

NLRC4 基因产物(4)

mRNA Protein Name
NM_001199138.2 NP_001186067.1 NLR family CARD domain-containing protein 4 isoform a
NM_001199139.1 NP_001186068.1 NLR family CARD domain-containing protein 4 isoform a
NM_001302504.1 NP_001289433.1 NLR family CARD domain-containing protein 4 isoform b
NM_021209.4 NP_067032.3 NLR family CARD domain-containing protein 4 isoform a
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables ATP binding IDA
IDA: 通过直接分析推断
15882992 GOA
enables caspase binding IPI
IPI: 通过物理相互作用推断
15882992 GOA
enables endopeptidase activator activity IGI
IGI: 通过遗传相互作用推断
15882992 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
11374873 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
11374873 GOA
enables protein homodimerization activity IDA
IDA: 通过直接分析推断
15107016 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in activation of cysteine-type endopeptidase activity IGI
IGI: 通过遗传相互作用推断
15882992 GOA
involved in activation of cysteine-type endopeptidase activity IMP
IMP: 通过突变表型推断
15882992 GOA
involved in defense response to bacterium IDA
IDA: 通过直接分析推断
15107016 GOA
involved in detection of bacterium IDA
IDA: 通过直接分析推断
15107016 GOA
involved in positive regulation of NF-kappaB transcription factor activity IDA
IDA: 通过直接分析推断
12646168 GOA
involved in positive regulation of apoptotic process IDA
IDA: 通过直接分析推断
12646168 GOA
involved in positive regulation of interleukin-1 beta production IGI
IGI: 通过遗传相互作用推断
15882992 GOA
involved in positive regulation of protein processing IGI
IGI: 通过遗传相互作用推断
15882992 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

NLRC4 蛋白结构

CARD

CARD: Caspase recruitment domain (2 - 86)

NACHT

NACHT: NACHT domain (164 - 315)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1024 a.a.
蛋白主名 其他名称

NLR family CARD domain-containing protein 4

CARD, LRR, and NACHT-containing protein

NLRC4 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
NLRC4 Q9NPP4 NLRC4 Homo sapiens Q9NPP4
Y2H
11374873
种属内
NLRC4 Q9NPP4 CASP8 Homo sapiens Q14790-4 12646168
种属内
NLRC4 Q9NPP4 CASP1 Homo sapiens P29466 11390368
种属内
NLRC4 Q9NPP4 PYCARD Homo sapiens Q9ULZ3 12646168
种属内
NLRC4 Q9NPP4 NLRC4 Homo sapiens Q9NPP4 11390368
种属内
NLRC4 Q9NPP4 NLRC4 Homo sapiens Q9NPP4 11390368
种属内
NLRC4 Q9NPP4 CASP1 Homo sapiens P29466 17418785
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
Familial Cold Autoinflammatory Syndrome 4

FCAS4

Nlrc4-Related Familial Cold Autoinflammatory Syndrome

Nlrc4-Related Familial Cold Urticaria

Autoinflammatory, Cold, Familial, Syndrome, Type 4

Autoinflammation With Infantile Enterocolitis

Periodic Fever-Infantile Enterocolitis-Autoinflammatory Syndrome

AIFEC

Nlrc4-Related Mas

Nlrc4-Related Autoinflammatory Syndrome With Mas

Nlrc4-Related Autoinflammatory Syndrome With Macrophage Activation Syndrome

Nlrc4-Related Infantile Enterocolitis-Autoinflammatory Syndrome

Nlrc4-Related Macrophage Activation Syndrome

Enterocolitis

Enterocolitis
Autoinflammatory Syndrome
Familial Cold Autoinflammatory Syndrome

Familial Cold Urticaria

Fcas

Familial Polymorphous Cold Eruption

Fcu

Cold Hypersensitivity

Legionellosis

Legionella Infection

Pontiac Fever

Legionnaires' Disease

Infection By Legionella Pneumophilia

Legionella Pneumophila Infection

Nonspecific Interstitial Pneumonia

Nsip

Non-Specific Interstitial Pneumonia

Non-Specific Idiopathic Interstitial Pneumonia

Non-Specific Interstitial Pneumonia Nos

Legionnaire Disease

Legionnaires' Disease

Legionnaires Disease

Legionnaire Disease, Susceptibility To

Legionella

Legionella Pneumonia

Infection By Legionella Pneumophilia

Legionnaire'S Disease

Legionellosis

Legionaire Disease, Susceptibility To

Legionnaires Pneumonia

Lymphoid Interstitial Pneumonia

Lymphocytic Interstitial Pneumonia

Lip Disease

Lip Diseases

LIP

Disease Of Lips

Idiopathic Interstitial Pneumonia

Hamman-Rich Syndrome

Diffuse Idiopathic Pulmonary Fibrosis

Idiopathic Fibrosing Alveolitis

Ipf

Idiopathic Interstitial Pneumonias

Idiopathic Interstitial Pneumonia, Not Otherwise Specified

Pulmonary Fibrosis

Interstitial Pneumonitis, Desquamative, Familial

Desquamative Interstitial Pneumonia

DIP

Pneumonitis, Desquamative Interstitial, Familial

Pneumonia, Desquamative Interstitial, Familial

Interstitial Lung Disease, Desquamative

Ild, Desquamative

Familial Desquamative Interstitial Pneumonitis

Rbild

Respiratory Bronchiolitis-Associated Interstitial Lung Disease

Respiratory Bronchiolitis Associated Interstitial Lung Disease

Muckle-Wells Syndrome

MWS

Urticaria-Deafness-Amyloidosis Syndrome

Uda Syndrome

Neutrophilic Urticaria

Urticaria, Deafness And Amyloidosis

Cryopyrin-Associated Periodic Syndrome 2

Caps2

Muckle Wells Syndrome

Urticaria-Deafness-Amyloidosis

Cryopyrin-Associated Periodic Syndromes

Salmonellosis

Salmonella Infections

Salmonella Infection

Cinca Syndrome

CINCA

Nomid

Cryopyrin-Associated Periodic Syndrome 3

Chronic Neurologic Cutaneous And Articular Syndrome

Multisystem Inflammatory Disease, Neonatal-Onset

Caps3

Chronic Infantile Neurological Cutaneous Articular Syndrome

Infantile-Onset Multisystem Inflammatory Disease

Iomid Syndrome

Neonatal-Onset Multisystem Inflammatory Disease

Nomid Syndrome

Prieur-Griscelli Syndrome

Neonatal Onset Multisystem Inflammatory Disease

Chronic Infantile Neurological, Cutaneous And Articular Syndrome

Iomid

Infantile Onset Multisystem Inflammatory Disease

Prieur Griscelli Syndrome

Chronic Infantile Neurological Cutaneous And Articular Syndrome

Chronic, Infantile, Neurological, Cutaneous, Articular Syndrome

Chronic Infantile Neurologic Cutaneous And Articular Syndrome

Chronic Infantile Neurological, Cutaneous, And Articular Syndrome

Cryopyrin-Associated Periodic Syndromes

Conjunctivitis

Madras Eye

Adenoviral Conjunctivitis

Acute Adenoviral Follicular Conjunctivitis

Inclusion Conjunctivitis Of The Adult

Swimming-Pool Conjunctivitis

Inflammation Of Conjunctiva

Ophthalmia

Acute Conjunctivitis

Eye Catarrh

Catarrhal Ophthalmia

Koch-Weeks Conjunctivitis

Renal Infectious Disease
Mevalonic Aciduria

Mevalonate Kinase Deficiency

Mevalonicaciduria

Hyperimmunoglobulin D With Periodic Fever

MEVA

Complete Mevalonate Kinase Deficiency

Mva

Hyperimmunoglobulinemia D

Hyper Igd Syndrome

Periodic Fever, Dutch Type

Mkd

Aciduria, Mevalonic

Deficiency Of Mevalonate Kinase

Macrophage Activation Syndrome
Periodic Fever, Familial, Autosomal Dominant

Familial Hibernian Fever

Tumor Necrosis Factor Receptor-Associated Periodic Syndrome

Traps

FPF

Tnf Receptor-Associated Periodic Fever Syndrome

Hibernian Fever, Familial

Fhf

Tnf Receptor-Associated Periodic Syndrome

Autosomal Dominant Familial Periodic Fever

Periodic Fever, Familial

Tnf Receptor 1-Associated Periodic Syndrome

Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome

Familial Periodic Fever

Traps Syndrome

Tnf Receptor Associated Periodic Syndrome

Caledonian Fever

Fever, Periodic, Familial

Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome

Lymphoproliferative Syndrome, X-Linked, 2

XLP2

Xiap Deficiency

X-Linked Lymphoproliferative Syndrome 2

X-Linked Lymphoproliferative Disease Due To Xiap Deficiency

Xiap-Related Lymphoproliferative Disease, X-Linked

X-Linked Lymphoproliferative Syndrome Type 2

Xiap Deficiency Syndrome

Adult-Onset Still'S Disease

Adult-Onset Still Disease

Adult Onset Still'S Disease

Adult Still'S Disease

Still'S Disease Adult Onset

Aosd

Wissler-Fanconi Syndrome

Stills Disease Adult-Onset

Still'S Disease, Adult-Onset

Wissler'S Syndrome

Blau Syndrome

Arthrocutaneouveal Granulomatosis

Jabs Syndrome

BLAUS

Sarcoidosis, Early-Onset

Acug

Granulomatous Inflammatory Arthritis, Dermatitis, And Uveitis, Familial

Eos

Granulomatosis, Familial Juvenile Systemic

Granulomatosis, Familial, Blau Type

Familial Juvenile Systemic Granulomatosis

Early Onset Sarcoidosis

Synovitis Granulomatous With Uveitis And Cranial Neuropathies

Early-Onset Sarcoidosis

Familial Granulomatosis, Blau Type

Pediatric Granulomatous Arthritis

Familial Granulomatosis Blau Type

Familial Granulomatous Inflammatory Arthritis Dermatitis And Uveitis

Synovitis, Granulomatous, With Uveitis And Cranial Neuropathies

Cryptogenic Organizing Pneumonia

Bronchiolitis Obliterans Organizing Pneumonia

Boop

Constrictive Bronchiolitis

Cryptogenic Organizing Pneumonitis

Cop

Bronchiolitis Obliterans Organising Pneumonia

Cryptogenic Organising Pneumonia

Cryptogenic Organising Pneumonitis

Idiopathic Bronchiolitis Obliterans With Organising Pneumonia

Idiopathic Bronchiolitis Obliterans With Organizing Pneumonia

Organizing Pneumonia

Idiopathic Boop

Idiopathic Bronchiolitis Obliterans Organizing Pneumonia

Organized Pneumonia

Acute Interstitial Pneumonia

Acute Interstitial Pneumonitis

Hamman-Rich Syndrome

Accelerated Interstitial Pneumonia

Aip

Hamman-Rich Disease

Idiopathic Pulmonary Fibrosis, Acute Fatal Form

Idiopathic Pulmonary Fibrosis

Tularemia

Francisella Tularensis Infection

Deerfly Fever

Lemming Fever

Ohara Disease

Pahvant Valley Plague

Rabbit Fever

Yatobyo

Hemophagocytic Lymphohistiocytosis

Lymphohistiocytosis, Hemophagocytic

Haemophagocytic Syndrome

Lymphohistiocytosis Hemophagocytic

Hemophagocytic Syndrome

Familial Hemophagocytic Lymphocytosis

Histiocytoses Of Mononuclear Phagocytes

Haemophagocytic Lymphohistiocytosis Nos

Primary Bacterial Infectious Disease
Cystic Fibrosis

Mucoviscidosis

CF

Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis

Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis

Cystic Fibrosis Lung Disease, Modifier Of

Cystic Fibrosis Of Pancreas

Fibrocystic Disease Of Pancreas

Cf - [Cystic Fibrosis]

Cystic Fibrosis Nos

Fibrocystic Disease

Fibrocystic Disease Of The Pancreas

Mucoviscidosis Of Pancreas

Nonproliferative Fibrocystic Disease

Pancreatic Cystic Fibrosis

Interstitial Lung Disease 2

Idiopathic Pulmonary Fibrosis

Ipf

Fibrocystic Pulmonary Dysplasia

Pulmonary Fibrosis, Idiopathic

Pulmonary Fibrosis, Idiopathic, Susceptibility To

Cryptogenic Fibrosing Alveolitis

ILD2

Idiopathic Pulmonary Fibrosis, Familial

Fibrosing Alveolitis, Cryptogenic

Uip

Fibrosing Alveolitis

Interstitial Pneumonitis, Usual

Familial Idiopathic Pulmonary Fibrosis

Idiopathic Fibrosing Alveolitis, Chronic Form

Usual Interstitial Pneumonia

Fibrosing Alveolitis Cryptogenic

Hamman-Rich Disease

Idiopathic Pulmonary Fibrosis Familial

Interstitial Pneumonitis Usual

Fibrosis Idiopathic Pulmonary

Fibrosis, Pulmonary, Idiopathic

Hamman-Rich Syndrome

Chronic Idiopathic Pulmonary Fibrosis

Acute Interstitial Pneumonia

Interstitial Pulmonary Fibrosis

Ipf - [Idiopathic Pulmonary Fibrosis]

Idiopathic Lung Fibrosis

Fibrosing Lung Disease

Pulmonary Fibrosis Nos

Fibrosing Pneumonitis

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
Macaca mulatta NLRC4 VGNC VGNC:75187
Felis catus NLRC4 VGNC VGNC:63827
Mus musculus NLRC4 MGD MGI:3036243
Rattus norvegicus NLRC4 RGD RGD:1309831
Bos taurus NLRC4 VGNC VGNC:32113