NLRC4 - NLR family CARD domain containing 4 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 58484

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

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables ATP binding	IDA IDA: Inferred from direct assay	15882992	GOA
enables caspase binding	IPI IPI: Inferred from physical interaction	15882992	GOA
enables endopeptidase activator activity	IGI IGI: Inferred from genetic interaction	15882992	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	11374873	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11374873	GOA
enables protein homodimerization activity	IDA IDA: Inferred from direct assay	15107016	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in activation of cysteine-type endopeptidase activity	IGI IGI: Inferred from genetic interaction	15882992	GOA
involved in activation of cysteine-type endopeptidase activity	IMP IMP: Inferred from mutant phenotype	15882992	GOA
involved in defense response to bacterium	IDA IDA: Inferred from direct assay	15107016	GOA
involved in detection of bacterium	IDA IDA: Inferred from direct assay	15107016	GOA
involved in positive regulation of NF-kappaB transcription factor activity	IDA IDA: Inferred from direct assay	12646168	GOA
involved in positive regulation of apoptotic process	IDA IDA: Inferred from direct assay	12646168	GOA
involved in positive regulation of interleukin-1 beta production	IGI IGI: Inferred from genetic interaction	15882992	GOA
involved in positive regulation of protein processing	IGI IGI: Inferred from genetic interaction	15882992	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

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

NLRC4 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	NLRC4	Q9NPP4	NLRC4	Homo sapiens	Q9NPP4	Y2H	11374873
Intra	NLRC4	Q9NPP4	CASP8	Homo sapiens	Q14790-4	Anti Tag CoIP	12646168
Intra	NLRC4	Q9NPP4	CASP1	Homo sapiens	P29466	Anti Tag CoIP	11390368
Intra	NLRC4	Q9NPP4	PYCARD	Homo sapiens	Q9ULZ3	Anti Tag CoIP	12646168
Intra	NLRC4	Q9NPP4	NLRC4	Homo sapiens	Q9NPP4	Anti Tag CoIP	11390368
Intra	NLRC4	Q9NPP4	NLRC4	Homo sapiens	Q9NPP4	Pull Down	11390368
Intra	NLRC4	Q9NPP4	CASP1	Homo sapiens	P29466	Anti Tag CoIP	17418785

Cross: Cross-species interaction Intra: Intraspecies interaction

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

Pre-clinical Phase

Bioactive Molecules (14)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-169996	NP3-253	Inhibitor	99.78%	Unkown
HY-152670	JC2-11	Inhibitor	98.03%	Unkown
HY-148258	GDC-2394	Inhibitor	99.87%	Unkown
HY-N1939	Icariside I		98.76%	Unkown
HY-144223	NLRP3-IN-94	Inhibitor	99.93%	Unkown
HY-RS09347	NLRC4 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-148258A	GDC-2394 sodium	Inhibitor	/	Unkown
HY-161669	NLRP3-IN-40	Inhibitor	/	Unkown
HY-170233	NLRP3-IN-75	Inhibitor	/	Unkown
HY-175814	NLRP3-IN-83	Inhibitor	/	Unkown
HY-178953	NLRP3-IN-84	Inhibitor	/	Unkown
HY-183337	ZM734	Inhibitor	/	Unkown
HY-RS17988	Nlrc4 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24459	Nlrc4 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	NLRC4	NCBI