NLRP12 - NLR family pyrin domain containing 12 Gene

Homo sapiens

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

Gene ID: 91662 | Gene type: protein coding

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	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	12019269	GOA

Biological Process GO Annotation	Evidence	Reference	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	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09352	NLRP12 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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