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NLRP12 NLR family pyrin domain containing 12 [ Homo sapiens (human) ]

Gene ID: 91662, updated on 3-Apr-2024

Summary

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Official Symbol
NLRP12provided by HGNC
Official Full Name
NLR family pyrin domain containing 12provided by HGNC
Primary source
HGNC:HGNC:22938
See related
Ensembl:ENSG00000142405 MIM:609648; AllianceGenome:HGNC:22938
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
RNO; PAN6; RNO2; FCAS2; NALP12; PYPAF7; CLR19.3
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]
Expression
Biased expression in bone marrow (RPKM 2.2), appendix (RPKM 1.2) and 7 other tissues See more
Orthologs
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Genomic context

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Location:
19q13.42
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (53793584..53824403, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (56873043..56904207, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (54296838..54327657, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904767 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:54295400-54295900 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:54295901-54296401 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:54300296-54300796 Neighboring gene microRNA 372 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:54301378-54301878 Neighboring gene microRNA 373 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:54332809-54333578 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:54334349-54335116 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:54335887-54336656 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:54337427-54338194 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr19:54339735-54340504 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:54342811-54343580 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:54343581-54344348 Neighboring gene MYADM antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:54361270-54361770 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:54369942-54370917 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:54372027-54372940 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:54372941-54373854 Neighboring gene myeloid associated differentiation marker Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:54385903-54386454 Neighboring gene protein kinase C gamma Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:54395841-54396380 Neighboring gene Sharpr-MPRA regulatory region 4174 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:54410617-54411158

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. High expression of NLRP12 predicts poor prognosis in patients with intracranial glioma. Cheng YW, et al. J Chin Med Assoc, 2023 Jan 1. PMID 36599143
  2. NLRP12-associated systemic autoinflammatory diseases in children. Wang HF. Pediatr Rheumatol Online J, 2022 Feb 5. PMID 35123508, Free PMC Article
  3. A Novel Role for the Regulatory Nod-Like Receptor NLRP12 in Anti-Dengue Virus Response. Li X, et al. Front Immunol, 2021. PMID 34956178, Free PMC Article
  4. Crosstalk between NLRP12 and JNK during Hepatocellular Carcinoma. Khan S, et al. Int J Mol Sci, 2020 Jan 13. PMID 31941025, Free PMC Article
  5. The clinical phenotype and genotype of NLRP12-autoinflammatory disease: a Chinese case series with literature review. Wang W, et al. World J Pediatr, 2020 Oct. PMID 31820221

See all (55) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. NLRP12 Senses the SARS-CoV-2 Membrane Protein and Promotes an Inflammatory Response.
    Title: NLRP12 Senses the SARS-CoV-2 Membrane Protein and Promotes an Inflammatory Response.
  2. NLRP12 interacts with NLRP3 to block the activation of the human NLRP3 inflammasome.
    Title: NLRP12 interacts with NLRP3 to block the activation of the human NLRP3 inflammasome.
  3. The contributions of deleterious rare alleles in NLRP12 and inflammasome-related genes to polymyalgia rheumatica.
    Title: The contributions of deleterious rare alleles in NLRP12 and inflammasome-related genes to polymyalgia rheumatica.
  4. NLRP12-associated autoinflammatory disease in Chinese adult patients: a single-centre study.
    Title: NLRP12-associated autoinflammatory disease in Chinese adult patients: a single-centre study.
  5. NLRP12-associated autoinflammatory disease: much more than the FCAS phenotype.
    Title: NLRP12-associated autoinflammatory disease: much more than the FCAS phenotype.
  6. NLRP12 downregulates the Wnt/beta-catenin pathway via interaction with STK38 to suppress colorectal cancer.
    Title: NLRP12 downregulates the Wnt/β-catenin pathway via interaction with STK38 to suppress colorectal cancer.
  7. The role of NLRP12 in inflammatory diseases.
    Title: The role of NLRP12 in inflammatory diseases.
  8. High expression of NLRP12 predicts poor prognosis in patients with intracranial glioma.
    Title: High expression of NLRP12 predicts poor prognosis in patients with intracranial glioma.
  9. Rare mutations in NLRP3 and NLRP12 associated with familial cold autoinflammatory syndrome: two Chinese pedigrees.
    Title: Rare mutations in NLRP3 and NLRP12 associated with familial cold autoinflammatory syndrome: two Chinese pedigrees.
  10. NLRP12-associated systemic autoinflammatory diseases in children.
    Title: NLRP12-associated systemic autoinflammatory diseases in children.
Submit: New GeneRIF Correction See all GeneRIFs (44)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Familial cold autoinflammatory syndrome 2
MedGen: C2673198 OMIM: 611762 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables cysteine-type endopeptidase activator activity involved in apoptotic process NAS
Non-traceable Author Statement
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein-macromolecule adaptor activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in ERK1 and ERK2 cascade IEA
Inferred from Electronic Annotation
more info
  
involved_in activation of cysteine-type endopeptidase activity involved in apoptotic process NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in apoptotic process IEA
Inferred from Electronic Annotation
more info
  
involved_in cellular response to cytokine stimulus IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in dendritic cell migration IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of ERK1 and ERK2 cascade IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of NF-kappaB transcription factor activity IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of Toll signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of canonical NF-kappaB signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of canonical NF-kappaB signal transduction IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of cytokine production IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of inflammatory response IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of inflammatory response IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of interleukin-1 production IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of interleukin-6 production IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of non-canonical NF-kappaB signal transduction IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of protein autophosphorylation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of signal transduction IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of MHC class I biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within positive regulation of MHC class I biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of inflammatory response NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in positive regulation of interleukin-1 beta production NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in positive regulation of non-canonical NF-kappaB signal transduction IDA
Inferred from Direct Assay
more info
 PubMed 
acts_upstream_of_or_within regulation of canonical NF-kappaB signal transduction IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of cysteine-type endopeptidase activity involved in apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within regulation of cysteine-type endopeptidase activity involved in apoptotic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of interleukin-18 production NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in signal transduction NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
NOT located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
NACHT, LRR and PYD domains-containing protein 12
Names
PYRIN-containing APAF1-like protein 7
monarch 1
nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12
regulated by nitric oxide

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008651.2 RefSeqGene

    Range
    5081..35654
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_181

mRNA and Protein(s)

  1. NM_001277126.2 → NP_001264055.1  NACHT, LRR and PYD domains-containing protein 12 isoform 3

    See identical proteins and their annotated locations for NP_001264055.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (3).
    Source sequence(s)
    AC008753, AY116204, AY154467
    Consensus CDS
    CCDS62785.1
    UniProtKB/TrEMBL
    A8K407
    Related
    ENSP00000375653.1, ENST00000391773.7
    Conserved Domains (6) summary
    COG4886
    Location:677 → 954
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    cd00116
    Location:718 → 1036
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    cd08320
    Location:13 → 92
    Pyrin_NALPs; Pyrin death domain found in NALP proteins
    sd00033
    Location:716 → 744
    LRR_RI; leucine-rich repeat [structural motif]
    pfam05729
    Location:212 → 381
    NACHT; NACHT domain
    pfam14484
    Location:129 → 200
    FISNA; Fish-specific NACHT associated domain

  2. NM_001277129.1 → NP_001264058.1  NACHT, LRR and PYD domains-containing protein 12 isoform 4

    See identical proteins and their annotated locations for NP_001264058.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate in-frame splice site in the central coding region, and lacks an alternate in-frame exon in the 3' coding region, compared to variant 3. The encoded isoform (4) is shorter than isoform 3.
    Source sequence(s)
    AK095460, AY154467, BC028069, DA619102
    Consensus CDS
    CCDS62784.1
    UniProtKB/TrEMBL
    A0A0C4DH17
    Related
    ENSP00000375655.3, ENST00000391775.7
    Conserved Domains (6) summary
    COG4886
    Location:711 → 939
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    cd00116
    Location:705 → 978
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    cd08320
    Location:13 → 92
    Pyrin_NALPs; Pyrin death domain found in NALP proteins
    sd00033
    Location:715 → 743
    LRR_RI; leucine-rich repeat [structural motif]
    pfam05729
    Location:212 → 381
    NACHT; NACHT domain
    pfam14484
    Location:129 → 200
    FISNA; Fish-specific NACHT associated domain

  3. NM_144687.4 → NP_653288.1  NACHT, LRR and PYD domains-containing protein 12 isoform 2

    See identical proteins and their annotated locations for NP_653288.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the central coding region, compared to variant 3, resulting in an isoform (2) that is 1 aa shorter than isoform 3.
    Source sequence(s)
    AC008753, AY154467, BC028069
    Consensus CDS
    CCDS12864.1
    UniProtKB/Swiss-Prot
    A8MTQ2, B3KTE7, P59046, Q8NEU4, Q9BY26
    UniProtKB/TrEMBL
    A8K407
    Related
    ENSP00000319377.6, ENST00000324134.11
    Conserved Domains (6) summary
    cd00116
    Location:717 → 1035
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    cd08320
    Location:13 → 92
    Pyrin_NALPs; Pyrin death domain found in NALP proteins
    sd00033
    Location:715 → 743
    LRR_RI; leucine-rich repeat [structural motif]
    pfam05729
    Location:212 → 381
    NACHT; NACHT domain
    pfam14484
    Location:129 → 200
    FISNA; Fish-specific NACHT associated domain
    cl26161
    Location:561 → 866
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    53793584..53824403 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017027462.2 → XP_016882951.1  NACHT, LRR and PYD domains-containing protein 12 isoform X3

    UniProtKB/TrEMBL
    A8K407

  2. XM_047439676.1 → XP_047295632.1  NACHT, LRR and PYD domains-containing protein 12 isoform X8

  3. XM_047439673.1 → XP_047295629.1  NACHT, LRR and PYD domains-containing protein 12 isoform X4

  4. XM_047439675.1 → XP_047295631.1  NACHT, LRR and PYD domains-containing protein 12 isoform X7

  5. XM_011527479.2 → XP_011525781.1  NACHT, LRR and PYD domains-containing protein 12 isoform X2

    UniProtKB/TrEMBL
    A8K407
    Conserved Domains (6) summary
    COG4886
    Location:712 → 954
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    cd00116
    Location:688 → 979
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    cd08320
    Location:13 → 92
    Pyrin_NALPs; Pyrin death domain found in NALP proteins
    sd00033
    Location:716 → 744
    LRR_RI; leucine-rich repeat [structural motif]
    pfam05729
    Location:212 → 381
    NACHT; NACHT domain
    pfam14484
    Location:129 → 200
    FISNA; Fish-specific NACHT associated domain

  6. XM_011527482.2 → XP_011525784.1  NACHT, LRR and PYD domains-containing protein 12 isoform X6

    UniProtKB/TrEMBL
    A0A0C4DFY3
    Related
    ENSP00000375652.1, ENST00000391772.1
    Conserved Domains (6) summary
    COG4886
    Location:712 → 843
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    cd00116
    Location:705 → 922
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    cd08320
    Location:13 → 92
    Pyrin_NALPs; Pyrin death domain found in NALP proteins
    sd00033
    Location:716 → 744
    LRR_RI; leucine-rich repeat [structural motif]
    pfam05729
    Location:212 → 381
    NACHT; NACHT domain
    pfam14484
    Location:129 → 200
    FISNA; Fish-specific NACHT associated domain

  7. XM_011527480.2 → XP_011525782.1  NACHT, LRR and PYD domains-containing protein 12 isoform X1

    See identical proteins and their annotated locations for XP_011525782.1

    UniProtKB/TrEMBL
    A0A0C4DH17
    Conserved Domains (6) summary
    COG4886
    Location:712 → 940
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    cd00116
    Location:688 → 979
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    cd08320
    Location:13 → 92
    Pyrin_NALPs; Pyrin death domain found in NALP proteins
    sd00033
    Location:716 → 744
    LRR_RI; leucine-rich repeat [structural motif]
    pfam05729
    Location:212 → 381
    NACHT; NACHT domain
    pfam14484
    Location:129 → 200
    FISNA; Fish-specific NACHT associated domain

  8. XM_017027463.2 → XP_016882952.1  NACHT, LRR and PYD domains-containing protein 12 isoform X9

    UniProtKB/TrEMBL
    A8K407

  9. XM_017027465.2 → XP_016882954.1  NACHT, LRR and PYD domains-containing protein 12 isoform X9

    UniProtKB/TrEMBL
    A8K407

  10. XM_017027464.2 → XP_016882953.1  NACHT, LRR and PYD domains-containing protein 12 isoform X9

    UniProtKB/TrEMBL
    A8K407

  11. XM_017027467.2 → XP_016882956.1  NACHT, LRR and PYD domains-containing protein 12 isoform X9

    UniProtKB/TrEMBL
    A8K407

  12. XM_047439674.1 → XP_047295630.1  NACHT, LRR and PYD domains-containing protein 12 isoform X5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    56873043..56904207 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054322598.1 → XP_054178573.1  NACHT, LRR and PYD domains-containing protein 12 isoform X3

  2. XM_054322603.1 → XP_054178578.1  NACHT, LRR and PYD domains-containing protein 12 isoform X8

  3. XM_054322599.1 → XP_054178574.1  NACHT, LRR and PYD domains-containing protein 12 isoform X4

  4. XM_054322602.1 → XP_054178577.1  NACHT, LRR and PYD domains-containing protein 12 isoform X7

  5. XM_054322597.1 → XP_054178572.1  NACHT, LRR and PYD domains-containing protein 12 isoform X2

  6. XM_054322601.1 → XP_054178576.1  NACHT, LRR and PYD domains-containing protein 12 isoform X6

  7. XM_054322596.1 → XP_054178571.1  NACHT, LRR and PYD domains-containing protein 12 isoform X1

  8. XM_054322604.1 → XP_054178579.1  NACHT, LRR and PYD domains-containing protein 12 isoform X9

  9. XM_054322606.1 → XP_054178581.1  NACHT, LRR and PYD domains-containing protein 12 isoform X9

  10. XM_054322605.1 → XP_054178580.1  NACHT, LRR and PYD domains-containing protein 12 isoform X9

  11. XM_054322607.1 → XP_054178582.1  NACHT, LRR and PYD domains-containing protein 12 isoform X9

  12. XM_054322600.1 → XP_054178575.1  NACHT, LRR and PYD domains-containing protein 12 isoform X5

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_033297.2: Suppressed sequence

    Description
    NM_033297.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P59046.2 GenPept UniProtKB/Swiss-Prot:P59046

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