NLRC4 - NLR family CARD domain containing 4 Gene

Homo sapiens

Also known as CLAN; IPAF; AIFEC; CLAN1; CLANA; CLANB; CLANC; CLAND; FCAS4; CARD12; CLR2.1

Gene ID: 58484 | Gene type: protein coding

About 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.

Summary

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 Products(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

NLRC4 Protein Structure

CARD

NACHT

0
200
400
600
800
1024 a.a.

Protein Preferred Names

Protein Names

NLR family CARD domain-containing protein 4

CARD, LRR, and NACHT-containing protein

Related Diseases

Diseases

Alias

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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-152670	JC2-11	Inhibitor	98.02%	Unkown
HY-148258	GDC-2394	Inhibitor	99.54%	Unkown
HY-RS09347	NLRC4 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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

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