Seroatlas · Human Serome Atlas

NLRP2

NACHT, LRR and PYD domains-containing protein 2

Also known as: CLR19.9, FLJ20510, NALP2, NALP2_HUMAN, NBS1, PAN1, PYPAF2

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q9NX02
Gene: NLRP2
Ensembl: ENSG00000022556
Chromosome: 19
Canonical length: 1062 aa
Protein class: Predicted intracellular proteins
Subcellular location: Golgi apparatus,Vesicles,Cytosol

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

1062 residues, UniProt reviewed canonical sequence.

>Q9NX02|NLRP2
     1  MVSSAQMGFN LQALLEQLSQ DELSKFKYLI TTFSLAHELQ KIPHKEVDKA DGKQLVEILT
    61  THCDSYWVEM ASLQVFEKMH RMDLSERAKD EVREAALKSF NKRKPLSLGI TRKERPPLDV
   121  DEMLERFKTE AQAFTETKGN VICLGKEVFK GKKPDKDNRC RYILKTKFRE MWKSWPGDSK
   181  EVQVMAERYK MLIPFSNPRV LPGPFSYTVV LYGPAGLGKT TLAQKLMLDW AEDNLIHKFK
   241  YAFYLSCREL SRLGPCSFAE LVFRDWPELQ DDIPHILAQA RKILFVIDGF DELGAAPGAL
   301  IEDICGDWEK KKPVPVLLGS LLNRVMLPKA ALLVTTRPRA LRDLRILAEE PIYIRVEGFL
   361  EEDRRAYFLR HFGDEDQAMR AFELMRSNAA LFQLGSAPAV CWIVCTTLKL QMEKGEDPVP
   421  TCLTRTGLFL RFLCSRFPQG AQLRGALRTL SLLAAQGLWA QTSVLHREDL ERLGVQESDL
   481  RLFLDGDILR QDRVSKGCYS FIHLSFQQFL TALFYTLEKE EEEDRDGHTW DIGDVQKLLS
   541  GVERLRNPDL IQAGYYSFGL ANEKRAKELE ATFGCRMSPD IKQELLRCDI SCKGGHSTVT
   601  DLQELLGCLY ESQEEELVKE VMAQFKEISL HLNAVDVVPS SFCVKHCRNL QKMSLQVIKE
   661  NLPENVTASE SDAEVERSQD DQHMLPFWTD LCSIFGSNKD LMGLAINDSF LSASLVRILC
   721  EQIASDTCHL QRVVFKNISP ADAHRNLCLA LRGHKTVTYL TLQGNDQDDM FPALCEVLRH
   781  PECNLRYLGL VSCSATTQQW ADLSLALEVN QSLTCVNLSD NELLDEGAKL LYTTLRHPKC
   841  FLQRLSLENC HLTEANCKDL AAVLVVSREL THLCLAKNPI GNTGVKFLCE GLRYPECKLQ
   901  TLVLWNCDIT SDGCCDLTKL LQEKSSLLCL DLGLNHIGVK GMKFLCEALR KPLCNLRCLW
   961  LWGCSIPPFS CEDLCSALSC NQSLVTLDLG QNPLGSSGVK MLFETLTCSS GTLRTLRLKI
  1021  DDFNDELNKL LEEIEEKNPQ LIIDTEKHHP WAERPSSHDF MI

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NLRP2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.25
Highest tissue expression: 7.6 nTPM

Expression across tissuesHPA

Tissue

esophagus: 7.6 nTPM
testis: 6.9 nTPM
placenta: 6.7 nTPM
urinary bladder: 6.7 nTPM
vagina: 4.2 nTPM
thyroid gland: 4.1 nTPM

Single-cell type

extravillous trophoblasts: 36 nCPM
oocytes: 32 nCPM
migrating cytotrophoblasts: 26 nCPM
syncytiotrophoblasts: 17 nCPM
late primary spermatocytes: 12 nCPM
endometrial secretory cells: 11 nCPM

Immune cell

NK-cell: 3 nTPM
gdT-cell: 1.8 nTPM
MAIT T-cell: 1.3 nTPM
T-reg: 1.3 nTPM
plasmacytoid DC: 1 nTPM
naive CD8 T-cell: 0.8 nTPM

Brain region

hippocampal formation: 9.1 nTPM
amygdala: 9 nTPM
cerebral cortex: 9 nTPM
basal ganglia: 8.7 nTPM
thalamus: 7.9 nTPM
white matter: 7.7 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NLRP2.

Disease | AllUniProt

Conditions NLRP2 is implicated in, by any mechanism.

Oocyte/zygote/embryo maturation arrest 18 (OZEMA18) MIM:620332

Disease | GeneticClinVar

6 pathogenic / likely-pathogenic of 411 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Oocyte/zygote/embryo maturation arrest 18

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 1.49
gnomAD pLI: 0
gnomAD missense Z: -2.35
DepMap mean gene effect: 0.06
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of NLRP2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads NLRP2 as an antibody target. Whether an autoantibody or antibody against NLRP2 could matter depends on whether native NLRP2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

NLRP2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label NLRP2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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