LOCUS       NM_017852               3540 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens NLR family pyrin domain containing 2 (NLRP2),
            transcript variant 1, mRNA.
ACCESSION   NM_017852
VERSION     NM_017852.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3540)
  AUTHORS   Rui,X., Zhang,X., Jia,X., Han,J., Wang,C., Cao,Q., Zhong,O.,
            Ding,J., Zhao,C., Zhang,J., Ling,X., Li,H., Ma,X., Meng,Q. and
            Huo,R.
  TITLE     Variants in NLRP2 and ZFP36L2, non-core components of the human
            subcortical maternal complex, cause female infertility with
            embryonic development arrest
  JOURNAL   Mol Hum Reprod 30 (9) (2024)
   PUBMED   39178021
  REMARK    GeneRIF: Variants in NLRP2 and ZFP36L2, non-core components of the
            human subcortical maternal complex, cause female infertility with
            embryonic development arrest.
REFERENCE   2  (bases 1 to 3540)
  AUTHORS   Gu,B., Le,G.H., Herrera,S., Blair,S.J., Meissner,T.B. and
            Strominger,J.L.
  TITLE     HLA-C expression in extravillous trophoblasts is determined by an
            ELF3-NLRP2/NLRP7 regulatory axis
  JOURNAL   Proc Natl Acad Sci U S A 121 (31), e2404229121 (2024)
   PUBMED   39052836
  REMARK    GeneRIF: HLA-C expression in extravillous trophoblasts is
            determined by an ELF3-NLRP2/NLRP7 regulatory axis.
REFERENCE   3  (bases 1 to 3540)
  AUTHORS   Rossi,M.N., Matteo,V., Diomedi-Camassei,F., De Leo,E., Devuyst,O.,
            Lamkanfi,M., Caiello,I., Loricchio,E., Bellomo,F., Taranta,A.,
            Emma,F., De Benedetti,F. and Prencipe,G.
  TITLE     Nlrp2 deletion ameliorates kidney damage in a mouse model of
            cystinosis
  JOURNAL   Front Immunol 15, 1373224 (2024)
   PUBMED   38633264
  REMARK    GeneRIF: Nlrp2 deletion ameliorates kidney damage in a mouse model
            of cystinosis.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3540)
  AUTHORS   Fontalba,A., Gutierrez,O. and Fernandez-Luna,J.L.
  TITLE     NLRP2, an inhibitor of the NF-kappaB pathway, is transcriptionally
            activated by NF-kappaB and exhibits a nonfunctional allelic variant
  JOURNAL   J Immunol 179 (12), 8519-8524 (2007)
   PUBMED   18056399
  REMARK    GeneRIF: These findings provide molecular insight into the
            expression of NLRP2 by NF-kappaB.
            GeneRIF: Observational study of genotype prevalence. (HuGE
            Navigator)
REFERENCE   5  (bases 1 to 3540)
  AUTHORS   Kinoshita,T., Wang,Y., Hasegawa,M., Imamura,R. and Suda,T.
  TITLE     PYPAF3, a PYRIN-containing APAF-1-like protein, is a feedback
            regulator of caspase-1-dependent interleukin-1beta secretion
  JOURNAL   J Biol Chem 280 (23), 21720-21725 (2005)
   PUBMED   15817483
  REMARK    GeneRIF: PYPAF3 is a feedback regulator of interleukin-1beta
            secretion, and PYPAF2 and PYPAF3, together with PYNOD, constitute
            an anti-inflammatory subgroup of PYRIN-containing apoptotic
            protease-activating factor-1-like proteins
REFERENCE   6  (bases 1 to 3540)
  AUTHORS   Bruey,J.M., Bruey-Sedano,N., Newman,R., Chandler,S., Stehlik,C. and
            Reed,J.C.
  TITLE     PAN1/NALP2/PYPAF2, an inducible inflammatory mediator that
            regulates NF-kappaB and caspase-1 activation in macrophages
  JOURNAL   J Biol Chem 279 (50), 51897-51907 (2004)
   PUBMED   15456791
  REMARK    GeneRIF: functions as a modulator of the activation of NF-kappaB
            and pro-caspase-1 in macrophages
REFERENCE   7  (bases 1 to 3540)
  AUTHORS   Agostini,L., Martinon,F., Burns,K., McDermott,M.F., Hawkins,P.N.
            and Tschopp,J.
  TITLE     NALP3 forms an IL-1beta-processing inflammasome with increased
            activity in Muckle-Wells autoinflammatory disorder
  JOURNAL   Immunity 20 (3), 319-325 (2004)
   PUBMED   15030775
REFERENCE   8  (bases 1 to 3540)
  AUTHORS   Wang,L., Manji,G.A., Grenier,J.M., Al-Garawi,A., Merriam,S.,
            Lora,J.M., Geddes,B.J., Briskin,M., DiStefano,P.S. and Bertin,J.
  TITLE     PYPAF7, a novel PYRIN-containing Apaf1-like protein that regulates
            activation of NF-kappa B and caspase-1-dependent cytokine
            processing
  JOURNAL   J Biol Chem 277 (33), 29874-29880 (2002)
   PUBMED   12019269
REFERENCE   9  (bases 1 to 3540)
  AUTHORS   Martinon,F., Hofmann,K. and Tschopp,J.
  TITLE     The pyrin domain: a possible member of the death domain-fold family
            implicated in apoptosis and inflammation
  JOURNAL   Curr Biol 11 (4), R118-R120 (2001)
   PUBMED   11250163
REFERENCE   10 (bases 1 to 3540)
  AUTHORS   Bertin,J. and DiStefano,P.S.
  TITLE     The PYRIN domain: a novel motif found in apoptosis and inflammation
            proteins
  JOURNAL   Cell Death Differ 7 (12), 1273-1274 (2000)
   PUBMED   11270363
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB066882.1, DB046128.1,
            AF310106.1, BC001039.2 and AK025952.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_017852.4.
            
            Summary: This gene is a member of the nucleotide-binding and
            leucine-rich repeat receptor (NLR) family, and is predicted to
            contain an N-terminal pyrin effector domain (PYD), a
            centrally-located nucleotide-binding and oligomerization domain
            (NACHT) and C-terminal leucine-rich repeats (LRR). Members of this
            gene family are thought to be important regulators of immune
            responses. This gene product interacts with components of the IkB
            kinase (IKK) complex, and can regulate both caspase-1 and NF-kB
            (nuclear factor kappa-light-chain-enhancer of activated B cells)
            activity. The pyrin domain is necessary and sufficient for
            suppression of NF-kB activity. An allelic variant (rs147585490) has
            been found that is incapable of blocking the transcriptional
            activity of NF-kB. Alternative splicing results in multiple
            transcript variants encoding different isoforms. [provided by
            RefSeq, Dec 2016].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1). Both variants 1 and 2 encode the same isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF310106.1, SRR1803616.253406.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000448584.7/ ENSP00000409370.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-22                DB066882.1         33-54
            23-29               DB046128.1         54-60
            30-422              AF310106.1         6-398
            423-1925            BC001039.2         334-1836
            1926-3170           AF310106.1         1902-3146
            3171-3540           AK025952.1         3111-3480
FEATURES             Location/Qualifiers
     source          1..3540
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.42"
     gene            1..3540
                     /gene="NLRP2"
                     /gene_synonym="CLR19.9; NALP2; NBS1; OZEMA18; PAN1;
                     PYPAF2"
                     /note="NLR family pyrin domain containing 2"
                     /db_xref="GeneID:55655"
                     /db_xref="HGNC:HGNC:22948"
                     /db_xref="MIM:609364"
     exon            1..94
                     /gene="NLRP2"
                     /gene_synonym="CLR19.9; NALP2; NBS1; OZEMA18; PAN1;
                     PYPAF2"
                     /inference="alignment:Splign:2.1.0"
     exon            95..391
                     /gene="NLRP2"
                     /gene_synonym="CLR19.9; NALP2; NBS1; OZEMA18; PAN1;
                     PYPAF2"
                     /inference="alignment:Splign:2.1.0"
     CDS             112..3300
                     /gene="NLRP2"
                     /gene_synonym="CLR19.9; NALP2; NBS1; OZEMA18; PAN1;
                     PYPAF2"
                     /note="isoform 1 is encoded by transcript variant 1;
                     NACHT, leucine rich repeat and PYD containing 2;
                     nucleotide-binding oligomerization domain, leucine rich
                     repeat and pyrin domain containing 2; NACHT, LRR and PYD
                     domains-containing protein 2; nucleotide-binding site
                     protein 1; PYRIN-containing APAF1-like protein 2; PYRIN
                     domain and NACHT domain-containing protein 1"
                     /codon_start=1
                     /product="NACHT, LRR and PYD domains-containing protein 2
                     isoform 1"
                     /protein_id="NP_060322.1"
                     /db_xref="CCDS:CCDS12913.1"
                     /db_xref="GeneID:55655"
                     /db_xref="HGNC:HGNC:22948"
                     /db_xref="MIM:609364"
                     /translation="MVSSAQMGFNLQALLEQLSQDELSKFKYLITTFSLAHELQKIPH
                     KEVDKADGKQLVEILTTHCDSYWVEMASLQVFEKMHRMDLSERAKDEVREAALKSFNK
                     RKPLSLGITRKERPPLDVDEMLERFKTEAQAFTETKGNVICLGKEVFKGKKPDKDNRC
                     RYILKTKFREMWKSWPGDSKEVQVMAERYKMLIPFSNPRVLPGPFSYTVVLYGPAGLG
                     KTTLAQKLMLDWAEDNLIHKFKYAFYLSCRELSRLGPCSFAELVFRDWPELQDDIPHI
                     LAQARKILFVIDGFDELGAAPGALIEDICGDWEKKKPVPVLLGSLLNRVMLPKAALLV
                     TTRPRALRDLRILAEEPIYIRVEGFLEEDRRAYFLRHFGDEDQAMRAFELMRSNAALF
                     QLGSAPAVCWIVCTTLKLQMEKGEDPVPTCLTRTGLFLRFLCSRFPQGAQLRGALRTL
                     SLLAAQGLWAQTSVLHREDLERLGVQESDLRLFLDGDILRQDRVSKGCYSFIHLSFQQ
                     FLTALFYTLEKEEEEDRDGHTWDIGDVQKLLSGVERLRNPDLIQAGYYSFGLANEKRA
                     KELEATFGCRMSPDIKQELLRCDISCKGGHSTVTDLQELLGCLYESQEEELVKEVMAQ
                     FKEISLHLNAVDVVPSSFCVKHCRNLQKMSLQVIKENLPENVTASESDAEVERSQDDQ
                     HMLPFWTDLCSIFGSNKDLMGLAINDSFLSASLVRILCEQIASDTCHLQRVVFKNISP
                     ADAHRNLCLALRGHKTVTYLTLQGNDQDDMFPALCEVLRHPECNLRYLGLVSCSATTQ
                     QWADLSLALEVNQSLTCVNLSDNELLDEGAKLLYTTLRHPKCFLQRLSLENCHLTEAN
                     CKDLAAVLVVSRELTHLCLAKNPIGNTGVKFLCEGLRYPECKLQTLVLWNCDITSDGC
                     CDLTKLLQEKSSLLCLDLGLNHIGVKGMKFLCEALRKPLCNLRCLWLWGCSIPPFSCE
                     DLCSALSCNQSLVTLDLGQNPLGSSGVKMLFETLTCSSGTLRTLRLKIDDFNDELNKL
                     LEEIEEKNPQLIIDTEKHHPWAERPSSHDFMI"
     exon            392..436
                     /gene="NLRP2"
                     /gene_synonym="CLR19.9; NALP2; NBS1; OZEMA18; PAN1;
                     PYPAF2"
                     /inference="alignment:Splign:2.1.0"
     exon            437..508
                     /gene="NLRP2"
                     /gene_synonym="CLR19.9; NALP2; NBS1; OZEMA18; PAN1;
                     PYPAF2"
                     /inference="alignment:Splign:2.1.0"
     exon            509..574
                     /gene="NLRP2"
                     /gene_synonym="CLR19.9; NALP2; NBS1; OZEMA18; PAN1;
                     PYPAF2"
                     /inference="alignment:Splign:2.1.0"
     exon            575..2141
                     /gene="NLRP2"
                     /gene_synonym="CLR19.9; NALP2; NBS1; OZEMA18; PAN1;
                     PYPAF2"
                     /inference="alignment:Splign:2.1.0"
     exon            2142..2312
                     /gene="NLRP2"
                     /gene_synonym="CLR19.9; NALP2; NBS1; OZEMA18; PAN1;
                     PYPAF2"
                     /inference="alignment:Splign:2.1.0"
     exon            2313..2477
                     /gene="NLRP2"
                     /gene_synonym="CLR19.9; NALP2; NBS1; OZEMA18; PAN1;
                     PYPAF2"
                     /inference="alignment:Splign:2.1.0"
     exon            2478..2648
                     /gene="NLRP2"
                     /gene_synonym="CLR19.9; NALP2; NBS1; OZEMA18; PAN1;
                     PYPAF2"
                     /inference="alignment:Splign:2.1.0"
     exon            2649..2819
                     /gene="NLRP2"
                     /gene_synonym="CLR19.9; NALP2; NBS1; OZEMA18; PAN1;
                     PYPAF2"
                     /inference="alignment:Splign:2.1.0"
     exon            2820..2990
                     /gene="NLRP2"
                     /gene_synonym="CLR19.9; NALP2; NBS1; OZEMA18; PAN1;
                     PYPAF2"
                     /inference="alignment:Splign:2.1.0"
     exon            2991..3161
                     /gene="NLRP2"
                     /gene_synonym="CLR19.9; NALP2; NBS1; OZEMA18; PAN1;
                     PYPAF2"
                     /inference="alignment:Splign:2.1.0"
     exon            3162..3540
                     /gene="NLRP2"
                     /gene_synonym="CLR19.9; NALP2; NBS1; OZEMA18; PAN1;
                     PYPAF2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3517..3522
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NLRP2"
                     /gene_synonym="CLR19.9; NALP2; NBS1; OZEMA18; PAN1;
                     PYPAF2"
                     /note="hexamer: AATAAA"
     polyA_site      3540
                     /gene="NLRP2"
                     /gene_synonym="CLR19.9; NALP2; NBS1; OZEMA18; PAN1;
                     PYPAF2"
                     /note="major polyA site"
ORIGIN      
        1 aatcacaggg ctgcggccga gagagaagcc ttattagagc tttctcaacc tgcagccctc
       61 atctccgccg gcgagtaggg ccaggtgttg ggagctccca cgtgggacaa gatggtgtct
      121 tcggcgcaga tgggcttcaa cctgcaggct ctcctggagc agctcagcca ggatgagttg
      181 agcaagttca agtatctgat cacgaccttc tccctggcac acgagctcca gaagatcccc
      241 cacaaggagg tagacaaggc tgatgggaag caactggtag aaatcctcac cacccattgt
      301 gacagctact gggtggagat ggcgagcctc caggtctttg aaaagatgca ccgaatggat
      361 ctgtctgaga gagcaaagga tgaagtcaga gaagcagctt tgaaatcctt taataaaagg
      421 aagcctctat cattagggat aacacggaaa gaacgaccac ctctagacgt ggacgaaatg
      481 ctggagcgct tcaaaacaga agcacaagcg tttacagaaa cgaaaggaaa tgtcatctgc
      541 ctgggtaaag aagtctttaa aggaaaaaag ccagacaaag acaataggtg caggtatata
      601 ttgaagacga agttccggga gatgtggaag agctggcctg gagatagcaa agaggtccag
      661 gttatggctg agagatacaa gatgctgatc ccattcagca accccagggt gcttcccggg
      721 cccttctcat acacggtggt gctgtatggt cctgcaggcc ttgggaaaac cacgctggcc
      781 cagaaactaa tgctagactg ggcagaggac aacctcatcc acaaattcaa atatgcgttc
      841 tacctcagct gcagggagct cagccgcctg ggcccgtgca gttttgcaga gctggtcttc
      901 agggactggc ctgaattgca ggatgacatt ccacacatcc tagcccaagc acggaaaatc
      961 ttgttcgtga ttgacggctt tgatgagctg ggagccgcac ctggggcgct gatcgaggac
     1021 atctgcgggg actgggagaa gaagaagccg gtgcccgtcc tcctggggag tttgctgaac
     1081 agggtgatgt tacccaaggc cgccctgctg gtcaccacgc ggcccagggc cctgagggac
     1141 ctccggatcc tggcggagga gccgatctac ataagggtgg agggcttcct ggaggaggac
     1201 aggagggcct atttcctgag acactttgga gacgaggacc aagccatgcg tgcctttgag
     1261 ctaatgagga gcaacgcggc cctgttccag ctgggctcgg cccccgcggt gtgctggatc
     1321 gtgtgcacga ctctgaagct gcagatggag aagggggagg acccggtccc cacctgcctc
     1381 acccgcacgg ggctgttcct gcgtttcctc tgcagccggt tcccgcaggg cgcacagctg
     1441 cggggcgcgc tgcggacgct gagcctcctg gccgcgcagg gcctgtgggc gcagacgtcc
     1501 gtgcttcacc gagaggatct ggaaaggctc ggggtgcagg agtccgacct ccgtctgttc
     1561 ctggacggag acatcctccg ccaggacaga gtctccaaag gctgctactc cttcatccac
     1621 ctcagcttcc agcagtttct cactgccctg ttctacaccc tggagaagga ggaggaagag
     1681 gatagggacg gccacacctg ggacattggg gacgtacaga agctgctttc cggagtagaa
     1741 agactcagga accccgacct gatccaagca ggctactact cctttggcct cgctaacgag
     1801 aagagagcca aggagttgga ggccactttt ggctgccgga tgtcaccgga catcaaacag
     1861 gaattgctgc gatgcgacat aagttgtaag ggtggacatt caacggtgac agacctgcag
     1921 gagctcctcg gctgtctgta cgagtctcag gaggaggagc tggtgaagga ggtgatggct
     1981 cagttcaaag aaatatccct gcacttaaat gcagtagacg ttgtgccatc ttcattctgc
     2041 gtcaagcact gtcgaaacct gcagaaaatg tcactgcagg taataaagga gaatctcccg
     2101 gagaatgtca ctgcgtctga atcagacgcc gaggttgaga gatcccagga tgatcagcac
     2161 atgcttcctt tctggacgga cctttgttcc atatttggat caaataagga tctgatgggt
     2221 ctagcaatca atgatagctt tctcagtgcc tccctagtaa ggatcctgtg tgaacaaata
     2281 gcctctgaca cctgtcatct ccagagagtg gtgttcaaaa acatttcccc agctgatgct
     2341 catcggaacc tctgcctagc tcttcgaggt cacaagactg taacgtatct gacccttcaa
     2401 ggcaatgacc aggatgatat gtttcccgca ttgtgtgagg tcttgagaca tccagaatgt
     2461 aacctgcgat atctcgggtt ggtgtcttgt tccgctacca ctcagcagtg ggctgatctc
     2521 tccttggccc ttgaagtcaa ccagtccctg acgtgcgtaa acctctccga caatgagctt
     2581 ctggatgagg gtgctaagtt gctgtacaca actttgagac accccaagtg ctttctgcag
     2641 aggttgtcgt tggaaaactg tcaccttaca gaagccaatt gcaaggacct tgctgctgtg
     2701 ttggttgtca gccgggagct gacacacctg tgcttggcca agaaccccat tgggaataca
     2761 ggggtgaagt ttctgtgtga gggcttgagg taccccgagt gtaaactgca gaccttggtg
     2821 ctttggaact gcgacataac tagcgatggc tgctgcgatc tcacaaagct tctccaagaa
     2881 aaatcaagcc tgttgtgttt ggatctgggg ctgaatcaca taggagttaa gggaatgaag
     2941 ttcctgtgtg aggctttgag gaaaccactg tgcaacttga gatgtctgtg gttgtgggga
     3001 tgttccatcc ctccgttcag ttgtgaagac ctctgctctg ccctcagctg caaccagagc
     3061 ctcgtcactc tggacctggg tcagaatccc ttggggtcta gtggagtgaa gatgctgttt
     3121 gaaaccttga catgttccag tggcaccctc cggacactca ggttgaaaat cgatgacttt
     3181 aatgatgaac tcaataagct gctggaagaa atagaagaaa aaaacccaca actgattatt
     3241 gatactgaga aacatcatcc ctgggcagaa aggccttctt ctcatgactt catgatctga
     3301 atccccccga gtcattcatt ctccatgaag tcatcgattt tccaggtgtt ggtgaactgc
     3361 ctgtgactcc tctcctcccc ggcccctacc cctcagggat aatgagttca ttgctgggct
     3421 agatgtttta gccatgattc tgcctctgtt ttatacctgc acacatcctt atctttgtta
     3481 catatgaaat atctgtatca cgggtatatt gagagaaata aaggtgagag cattcacaaa
//
