NLRP12 - NLR family pyrin domain containing 12 Gene

Also Known as RNO; PAN6; RNO2; FCAS2; NALP12; PYPAF7; CLR19.3

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 91662

About NLRP12

Cytogenetic location: 19q13.42 Genomic coordinates (GRCh38): 19:53,793,584-53,824,403 (from NCBI)

This gene has 6 transcripts (splice variants), 162 orthologues, 20 paralogues and is associated with 2 phenotypes. Biased expression in bone marrow (RPKM 2.2), appendix (RPKM 1.2) and 7 other tissues.

Summary

This gene encodes a member of the CATERPILLER family of cytoplasmic proteins. The encoded protein, which contains an N-terminal pyrin domain, a NACHT domain, a NACHT-associated domain, and a C-terminus leucine-rich repeat region, functions as an attenuating factor of inflammation by suppressing inflammatory responses in activated monocytes. Mutations in this gene cause familial cold autoinflammatory syndrome type 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]

NLRP12 Products (3)

mRNA	Protein	Name
NM_001277126.2	NP_001264055.1	NACHT, LRR and PYD domains-containing protein 12 isoform 3
NM_001277129.1	NP_001264058.1	NACHT, LRR and PYD domains-containing protein 12 isoform 4
NM_144687.4	NP_653288.1	NACHT, LRR and PYD domains-containing protein 12 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	12019269	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in negative regulation of NF-kappaB transcription factor activity	IDA IDA: Inferred from direct assay	18230725	GOA
involved in negative regulation of Toll signaling pathway	IDA IDA: Inferred from direct assay	16203735	GOA
involved in negative regulation of canonical NF-kappaB signal transduction	IDA IDA: Inferred from direct assay	16203735	GOA
involved in negative regulation of cytokine production	IDA IDA: Inferred from direct assay	16203735	GOA
involved in negative regulation of inflammatory response	IMP IMP: Inferred from mutant phenotype	18230725	GOA
involved in negative regulation of interleukin-1 production	IDA IDA: Inferred from direct assay	16203735	GOA
involved in negative regulation of interleukin-6 production	IDA IDA: Inferred from direct assay	16203735	GOA
involved in negative regulation of non-canonical NF-kappaB signal transduction	IDA IDA: Inferred from direct assay	17237370	GOA
involved in negative regulation of protein autophosphorylation	IDA IDA: Inferred from direct assay	16203735	GOA
involved in negative regulation of signal transduction	IDA IDA: Inferred from direct assay	16203735	GOA
acts upstream of or within positive regulation of MHC class I biosynthetic process	IDA IDA: Inferred from direct assay	12759408	GOA
involved in positive regulation of non-canonical NF-kappaB signal transduction	IDA IDA: Inferred from direct assay	12019269	GOA
acts upstream of or within regulation of canonical NF-kappaB signal transduction	IDA IDA: Inferred from direct assay	12019269	GOA
acts upstream of or within regulation of cysteine-type endopeptidase activity involved in apoptotic process	IDA IDA: Inferred from direct assay	12019269	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	12019269	GOA
NOT located in nucleus	IDA IDA: Inferred from direct assay	12019269	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

NLRP12 Protein Structure

PYRIN

FISNA

NACHT

LRR_6

0
200
400
600
800
1000
1061 a.a.

Protein Preferred Names	Protein Names
NACHT, LRR and PYD domains-containing protein 12	PYRIN-containing APAF1-like protein 7

NLRP12 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Cross	NLRP12	P59046	P0DTD1-PRO_0000449623	SARS-CoV-2	P0DTD1-PRO_0000449623	Protease Assay	33372854
Intra	NLRP12	P59046	HCK	Homo sapiens	P08631	Y2H	32226298
Intra	NLRP12	P59046	HCK	Homo sapiens	P08631	Anti Bait CoIP	32226298
Intra	NLRP12	P59046	TRAF3IP3	Homo sapiens	Q9Y228	Y2H	32226298
Intra	NLRP12	P59046	TRAF3IP3	Homo sapiens	Q9Y228	Anti Bait CoIP	32226298

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Familial Cold Autoinflammatory Syndrome 2	FCAS2 Nlrp12-Associated Hereditary Periodic Fever Syndrome Familial Cold Autoinflammatory Syndrome Type 2 Familial Cold-Induced Autoinflammatory Syndrome Type 2 Naps12 Familial Cold Autoinflammatory Syndrome 2, Susceptibility To Autoinflammatory Syndrome, Cold, Familial, Type 2
Familial Cold Autoinflammatory Syndrome	Familial Cold Urticaria Fcas Familial Polymorphous Cold Eruption Fcu Cold Hypersensitivity
Autoinflammatory Syndrome
Childhood-Onset Schizophrenia	Childhood Schizophrenia Schizophrenia, Childhood
Multisystem Inflammatory Syndrome In Children	Mis-C Multisystem Inflammatory Disorder In Children And Adolescents Paediatric Inflammatory Multisystemic Syndrome Mic
Night Blindness, Congenital Stationary, Type 1e	CSNB1E Congenital Stationary Night Blindness 1e Csnb, Complete, Autosomal Recessive Night Blindness, Congenital Stationary , 1e, Autosomal Recessive Congenital Stationary Night Blindness 1e Autosomal Recessive Night Blindness, Congenital Stationary, 1e Complete Autosomal Recessive Csnb Csnb1 Night Blindness, Congenital Stationary, Type 1 Blindness, Night, Stationary, Congenital, Type 1e
X-Linked Congenital Stationary Night Blindness	X-Linked Csnb Congenital Stationary Night Blindness With Myopia Hemeralopia-Myopia Myopia-Night Blindness Xlcsnb Night Blindness, Congenital Stationary, Type 2a Night Blindness, Congenital Stationary, Type 1a
Familial Cold Autoinflammatory Syndrome 4	FCAS4 Nlrc4-Related Familial Cold Autoinflammatory Syndrome Nlrc4-Related Familial Cold Urticaria Autoinflammatory, Cold, Familial, Syndrome, Type 4
Congenital Stationary Night Blindness	Night Blindness, Congenital Stationary Congenital Essential Nyctalopia Oguchi Disease Blindness, Night, Stationary, Congenital
Familial Cold Autoinflammatory Syndrome 3	Plaid Familial Atypical Cold Urticaria Facu FCAS3 Antibody Deficiency And Immune Dysregulation, Plcg2-Associated Plcg2-Associated Antibody Deficiency And Immune Dysregulation Familial Cold Urticaria With Common Variable Immunodeficiency Plcg2 Associated Antibody Deficiency And Immune Dysregulation Antibody Deficiency And Immune Dysregulation Placg2-Associated Autoinflammatory Syndrome, Cold, Familial, Type 3
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
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
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
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
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Papa Syndrome Fra Familial Recurrent Arthritis Pyogenic Arthritis, Pyoderma Gangrenosum And Acne PAPAS Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome Pyogenic Arthritis, Pyoderma Gangrenosum, And Severe Cystic Acne Pyogenic Sterile Arthritis, Pyoderma Gangrenosum And Acne
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
Gastroenteritis	Cholera Morbus Infectious Colitis, Enteritis And Gastroenteritis Enteritis Due To Astrovirus Rotaviral Gastroenteritis Viral Gastroenteritis Due To Rotavirus
Schnitzler Syndrome	Chronic Urticaria With Gammopathy Chronic Urticaria With Macroglobulinemia Chronic Urticaria With Gammapathy
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
Erysipeloid	Infection Due To Erysipelothrix Rhusiopathiae Erysipelothrix Infection
Common Variable Immunodeficiency	Cvid Common Variable Agammaglobulinemia Common Variable Immune Deficiency Acquired Hypogammaglobulinemia Hypogamma-Globulinemia, Acquired Idiopathic Immunoglobulin Deficiency Primary Antibody Deficiency Primary Hypogammaglobulinemia Acquired Agammaglobulinemia Sporadic Hypogammaglobulinemia Common Variable Hypogamma-Globulinemia Immunoglobulin Deficiency, Late-Onset Common Variable Hypogammaglobulinemia Immunodeficiency, Common Variable
Syphilis	Chancre Syphilitic Chancre
Familial Behcet-Like Autoinflammatory Syndrome	Autoinflammatory Syndrome, Familial, Behcet-Like A20 Haploinsufficiency
Night Blindness	Nyctalopia
Malaria	Malaria, Susceptibility To Malaria, Resistance To Malaria, Cerebral Cerebral Malaria Malaria, Severe, Susceptibility To Malaria, Severe, Resistance To Malaria, Cerebral, Susceptibility To Induced Malaria Malaria, Vivax, Protection Against Malaria, Severe Malaria, Cerebral, Reduced Risk Of Malaria, Protection Against Resistance To Malaria Due To G6pd Deficiency Malaria Due To G6pd Deficiency Malarial Encephalitis CM Malaria Cerebral Susceptibility To Malaria Acute Pernicious Fever Aestivo-Autumnal Fever Aestivo Autumnal Malaria Chagres Fever Continued Malaria Fever Estivo-Autumnal Fever Estivo-Autumnal Malaria Estivo-Autumnal Malarial Fever Falciparum Fever Malignant Tertian Fever Malignant Tertian Malaria Pernicious Intermittent Fever Pernicious Malaria Quotidian Malaria Subtertian Fever Subtertian Malaria Fever Subtertian Malignant Tertian Malaria Tropical Malaria Algid Malaria Bilious Haemoglobinuric Fever Black Water Fever Blackwater Fever Malarial Blackwater Fever Severe Malarial Falciparum West African Fever Malarial Haematinuria Haemoglobinuric Fever Haemoglobinuric Malaria Severe Plasmodium Falciparum Malaria Malarial Haemoglobinuria Malarial Haematuria Falciparum Malaria [Malignant Tertian] Malaria Tropica Malarial Shock Chagres Virus Disease Malignant Malaria Mtm - [Malignant Tertian Malaria] Tm -[Malignant Tertian Malaria] Panama Fever St - [Subtertian Malaria] Malarial Quotidian Benign Tertian Malaria Tertian Ague Vivax Fever Plasmodium Vivax Malaria Nos Btm - [Benign Tertian Malaria] Bt - [Benign Tertian Malaria] Vivax Malaria Benign Tertian Vivax Malaria Tertian Malaria Quartan Malaria Quartan Ague Quartan Fever Plasmodium Malariae Malaria Nos Quartan Malarial Malaria By Plasmodium Malariae Malariae Malaria Ovale Tertian Malaria Plasmodium Ovale Fever Malaria Fever By Plasmodium Ovale Ovale Malaria Malaria By Plasmodium Ovale Malarial Ovale Marsh Fever Remittent Congestive Fever Coastal Fever Remittent Gastric Fever Miasmatic Fever Congestive Remittent Fever Intermittent Fever Jungle Fever Paludism Cameroon Fever Ague Corsican Fever Intermittent Bilious Fever Disease Due To Plasmodiidae Malarial Fever Plasmodiosis Remittent Fever Roman Fever Malaria Fever Nos Malaria Nos Paludal Fever Clinically Diagnosed Malaria Clinically Diagnosed Malaria Without Parasitological Confirmation Congestive Fever Malarial Cachexia Marsh Cachexia Paludal Cachexia Recurrent Malaria Remittent Malaria

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 (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS21166	Nlrp12 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS09352	NLRP12 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27682	Nlrp12 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	NLRP12	VGNC	VGNC:97530
Mus musculus	NLRP12	MGD	MGI:2676630
Bos taurus	NLRP12	VGNC	VGNC:52210
Rattus norvegicus	NLRP12	RGD	RGD:1309415
Others	NLRP12	NCBI