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NLRP2B NLR family pyrin domain containing 2B [ Homo sapiens (human) ]

Gene ID: 286430, updated on 5-Mar-2024

Summary

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Official Symbol
NLRP2Bprovided by HGNC
Official Full Name
NLR family pyrin domain containing 2Bprovided by HGNC
Primary source
HGNC:HGNC:29887
See related
Ensembl:ENSG00000215174 AllianceGenome:HGNC:29887
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
POP4; NOD24; CLRX.1; NALP2P; NLRP2P
Summary
Involved in several processes, including negative regulation of NF-kappaB transcription factor activity; negative regulation of peptidyl-serine phosphorylation; and negative regulation of signal transduction. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Orthologs
all
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Genomic context

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See NLRP2B in Genome Data Viewer
Location:
Xp11.21
Exon count:
1
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (57677067..57680260, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (56975852..56979045, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (57703500..57706693, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20871 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20872 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:57634195-57634694 Neighboring gene zinc finger X-linked duplicated B Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:57673257-57673977 Neighboring gene NANOG hESC enhancer GRCh37_chrX:57677545-57678046 Neighboring gene uncharacterized LOC107985708 Neighboring gene MDH1 pseudogene 1 Neighboring gene uncharacterized LOC124905232 Neighboring gene Sharpr-MPRA regulatory region 7453

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. The CLRX.1/NOD24 (NLRP2P) pseudogene codes a functional negative regulator of NF-κB, pyrin-only protein 4. Porter KA, et al. Genes Immun, 2014 Sep. PMID 24871464, Free PMC Article
  2. NODs: intracellular proteins involved in inflammation and apoptosis. Inohara N, et al. Nat Rev Immunol, 2003 May. PMID 12766759
  3. The DNA sequence of the human X chromosome. Ross MT, et al. Nature, 2005 Mar 17. PMID 15772651, Free PMC Article
  4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

GeneRIFs: Gene References Into Functions

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

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

General gene information

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Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in innate immune response IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of NF-kappaB transcription factor activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
NOT involved_in negative regulation of NLRP3 inflammasome complex assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of cell cycle IMP
Inferred from Mutant Phenotype
more info
 PubMed 
NOT involved_in negative regulation of interleukin-1 beta production IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of peptidyl-serine phosphorylation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of toll-like receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of tumor necrosis factor-mediated signaling pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of apoptotic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
NLR family pyrin domain-containing protein 2B
Names
NLR family and pyrin domain-containing 2 pseudogene
NLR family, pyrin domain containing 2 pseudogene
NOD24 pseudogene
Pyrin domain-containing protein 2-like protein POP4
Pyrin-only protein 4

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.

mRNA and Protein(s)

  1. NM_001319967.1 → NP_001306896.1  NLR family pyrin domain-containing protein 2B

    Status: VALIDATED

    Source sequence(s)
    AL807813
    Consensus CDS
    CCDS83476.1
    UniProtKB/Swiss-Prot
    P0DMW2
    Related
    ENSP00000488995.1, ENST00000434992.1
    Conserved Domains (1) summary
    cl14633
    Location:11 → 45
    DD; Death Domain Superfamily of protein-protein interaction domains

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_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    57677067..57680260 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    56975852..56979045 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NG_002752.4: Suppressed sequence

    Description
    NG_002752.4: This RefSeq was removed because it is now thought that this gene does encode a protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P0DMW2.1 GenPept UniProtKB/Swiss-Prot:P0DMW2

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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