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

    Gene ID: 286430, updated on 2-Nov-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, Nov 2024]
    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_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (57677067..57680260, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (56975852..56979045, complement)
    RS_2024_09 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_2024_08

    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.

    Molecular Biology Databases
    Research Materials