PYDC2_HUMAN
ID PYDC2_HUMAN Reviewed; 97 AA.
AC Q56P42;
DT 02-SEP-2008, integrated into UniProtKB/Swiss-Prot.
DT 10-MAY-2005, sequence version 1.
DT 03-AUG-2022, entry version 114.
DE RecName: Full=Pyrin domain-containing protein 2 {ECO:0000305};
DE AltName: Full=Pyrin-only protein 2 {ECO:0000303|PubMed:17339483};
DE AltName: Full=cellular POP2 {ECO:0000303|PubMed:17178784};
DE Short=cPOP2 {ECO:0000303|PubMed:17178784};
GN Name=PYDC2 {ECO:0000312|HGNC:HGNC:33512};
GN Synonyms=POP2 {ECO:0000303|PubMed:17339483};
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, INTERACTION WITH PYCARD, SUBCELLULAR
RP LOCATION, AND TISSUE SPECIFICITY.
RX PubMed=17339483; DOI=10.4049/jimmunol.178.6.3837;
RA Bedoya F., Sandler L.L., Harton J.A.;
RT "Pyrin-only protein 2 modulates NF-kappaB and disrupts ASC:CLR
RT interactions.";
RL J. Immunol. 178:3837-3845(2007).
RN [2]
RP FUNCTION, INTERACTION WITH NLRP2 AND PYCARD, AND SUBCELLULAR LOCATION.
RX PubMed=17178784; DOI=10.1128/iai.01315-06;
RA Dorfleutner A., Bryan N.B., Talbott S.J., Funya K.N., Rellick S.L.,
RA Reed J.C., Shi X., Rojanasakul Y., Flynn D.C., Stehlik C.;
RT "Cellular pyrin domain-only protein 2 is a candidate regulator of
RT inflammasome activation.";
RL Infect. Immun. 75:1484-1492(2007).
RN [3]
RP CAUTION.
RX PubMed=21362197; DOI=10.1186/1471-2148-11-56;
RA Atianand M.K., Fuchs T., Harton J.A.;
RT "Recent evolution of the NF-kappaB and inflammasome regulating protein POP2
RT in primates.";
RL BMC Evol. Biol. 11:56-56(2011).
RN [4]
RP FUNCTION.
RX PubMed=24871464; DOI=10.1038/gene.2014.30;
RA Porter K.A., Duffy E.B., Nyland P., Atianand M.K., Sharifi H., Harton J.A.;
RT "The CLRX.1/NOD24 (NLRP2P) pseudogene codes a functional negative regulator
RT of NF-kappaB, pyrin-only protein 4.";
RL Genes Immun. 15:392-403(2014).
CC -!- FUNCTION: May play a role in innate immunity by disrupting the
CC interaction between PYCARD and NLRP3, thereby regulating the NLRP3
CC inflammasome (PubMed:17339483, PubMed:17178784). May also inhibit NF-
CC kappa-B signaling distally by affecting the nuclear accumulation of
CC RELA (PubMed:17339483, PubMed:24871464). {ECO:0000269|PubMed:17178784,
CC ECO:0000269|PubMed:17339483, ECO:0000269|PubMed:24871464}.
CC -!- SUBUNIT: Interacts with PYCARD/ASC (via pyrin domain) (PubMed:17339483,
CC PubMed:17178784). Interacts with NLRP2 (via pyrin domain)
CC (PubMed:17178784). {ECO:0000269|PubMed:17178784,
CC ECO:0000269|PubMed:17339483}.
CC -!- INTERACTION:
CC Q56P42; Q9NX02: NLRP2; NbExp=6; IntAct=EBI-6374418, EBI-6374482;
CC Q56P42; Q9ULZ3: PYCARD; NbExp=4; IntAct=EBI-6374418, EBI-751215;
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17178784,
CC ECO:0000269|PubMed:17339483}. Nucleus {ECO:0000269|PubMed:17178784,
CC ECO:0000269|PubMed:17339483}. Note=Recruited to specks formed by PYCARD
CC within the cytoplasm. {ECO:0000269|PubMed:17178784}.
CC -!- TISSUE SPECIFICITY: Predominantly expressed in peripheral blood. Weakly
CC expressed in testis. {ECO:0000269|PubMed:17339483}.
CC -!- CAUTION: Absent from the genome of domestic mammals and New World
CC monkeys it is found in the genome of hominids and Old World monkeys.
CC Likely derived from retrogene insertion of an NLRP2/NLRP7-like gene, it
CC has probably arisen recently in the mammalian genomes where it is under
CC purifying selection. {ECO:0000303|PubMed:21362197}.
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DR EMBL; AY858112; AAX54598.1; -; mRNA.
DR RefSeq; NP_001076777.1; NM_001083308.1.
DR AlphaFoldDB; Q56P42; -.
DR SMR; Q56P42; -.
DR IntAct; Q56P42; 5.
DR STRING; 9606.ENSP00000428325; -.
DR BioMuta; PYDC2; -.
DR DMDM; 74721597; -.
DR MassIVE; Q56P42; -.
DR PaxDb; Q56P42; -.
DR PeptideAtlas; Q56P42; -.
DR PRIDE; Q56P42; -.
DR Antibodypedia; 65933; 8 antibodies from 4 providers.
DR DNASU; 152138; -.
DR Ensembl; ENST00000518817.1; ENSP00000492367.1; ENSG00000253548.1.
DR GeneID; 152138; -.
DR KEGG; hsa:152138; -.
DR MANE-Select; ENST00000518817.1; ENSP00000492367.1; NM_001083308.1; NP_001076777.1.
DR UCSC; uc011bso.2; human.
DR CTD; 152138; -.
DR DisGeNET; 152138; -.
DR GeneCards; PYDC2; -.
DR HGNC; HGNC:33512; PYDC2.
DR HPA; ENSG00000253548; Tissue enriched (brain).
DR MIM; 615701; gene.
DR neXtProt; NX_Q56P42; -.
DR PharmGKB; PA162400524; -.
DR VEuPathDB; HostDB:ENSG00000253548; -.
DR eggNOG; ENOG502TEGC; Eukaryota.
DR GeneTree; ENSGT00940000161714; -.
DR HOGENOM; CLU_174141_0_0_1; -.
DR InParanoid; Q56P42; -.
DR OMA; KMNETHL; -.
DR OrthoDB; 1513184at2759; -.
DR PhylomeDB; Q56P42; -.
DR PathwayCommons; Q56P42; -.
DR SignaLink; Q56P42; -.
DR BioGRID-ORCS; 152138; 4 hits in 241 CRISPR screens.
DR GenomeRNAi; 152138; -.
DR Pharos; Q56P42; Tbio.
DR PRO; PR:Q56P42; -.
DR Proteomes; UP000005640; Chromosome 3.
DR RNAct; Q56P42; protein.
DR Bgee; ENSG00000253548; Expressed in cell and 27 other tissues.
DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR GO; GO:0043231; C:intracellular membrane-bounded organelle; IBA:GO_Central.
DR GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR GO; GO:0006954; P:inflammatory response; IEA:UniProtKB-KW.
DR GO; GO:0045087; P:innate immune response; IEA:UniProtKB-KW.
DR GO; GO:0050728; P:negative regulation of inflammatory response; IMP:UniProtKB.
DR GO; GO:0032691; P:negative regulation of interleukin-1 beta production; IMP:UniProtKB.
DR GO; GO:0032088; P:negative regulation of NF-kappaB transcription factor activity; IMP:UniProtKB.
DR GO; GO:1901223; P:negative regulation of NIK/NF-kappaB signaling; IMP:UniProtKB.
DR GO; GO:1900226; P:negative regulation of NLRP3 inflammasome complex assembly; IMP:UniProtKB.
DR GO; GO:0010804; P:negative regulation of tumor necrosis factor-mediated signaling pathway; IMP:UniProtKB.
DR GO; GO:0050727; P:regulation of inflammatory response; IBA:GO_Central.
DR Gene3D; 1.10.533.10; -; 1.
DR InterPro; IPR004020; DAPIN.
DR InterPro; IPR011029; DEATH-like_dom_sf.
DR Pfam; PF02758; PYRIN; 1.
DR SMART; SM01289; PYRIN; 1.
DR SUPFAM; SSF47986; SSF47986; 1.
DR PROSITE; PS50824; DAPIN; 1.
PE 1: Evidence at protein level;
KW Cytoplasm; Immunity; Inflammatory response; Innate immunity; Nucleus;
KW Reference proteome; Signal transduction inhibitor.
FT CHAIN 1..97
FT /note="Pyrin domain-containing protein 2"
FT /id="PRO_0000348427"
FT DOMAIN 1..94
FT /note="Pyrin"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00061"
FT VARIANT 81
FT /note="Q -> R (in dbSNP:rs293833)"
FT /id="VAR_046150"
SQ SEQUENCE 97 AA; 10795 MW; E2EE7A27FB90E586 CRC64;
MASSAELDFN LQALLEQLSQ DELSKFKSLI RTISLGKELQ TVPQTEVDKA NGKQLVEIFT
SHSCSYWAGM AAIQVFEKMN QTHLSGRADE HCVMPPP
