• Gene id: 55655

Gene Summary

• Gene Symbol: NLRP2   Gene   UCSC   Ensembl
• Aliases: CLR19.9, NALP2, NBS1, PAN1, PYPAF2
• Gene name: NLR family pyrin domain containing 2
• Alternate names: NACHT, LRR and PYD domains-containing protein 2, NACHT, leucine rich repeat and PYD containing 2, PYRIN domain and NACHT domain-containing protein 1, PYRIN-containing APAF1-like protein 2, nucleotide-binding oligomerization domain, leucine rich repeat and pyr,
• Gene location: 19q13.42 (54965283: 55001141)     Exons: 14     NC_000019.10
• Gene summary(Entrez): 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
• OMIM: 606477

Protein Summary

• Protein general information: Q9NX02  
  • Name: NACHT, LRR and PYD domains containing protein 2 (Nucleotide binding site protein 1) (PYRIN domain and NACHT domain containing protein 1) (PYRIN containing APAF1 like protein 2)
  • Length: 1062  
  • Mass: 120515
  • Tissue specificity: Expressed at high levels in lung, placenta and thymus and at lower levels in ovary, intestine and brain. {ECO
• Sequence:

  MVSSAQMGFNLQALLEQLSQDELSKFKYLITTFSLAHELQKIPHKEVDKADGKQLVEILTTHCDSYWVEMASLQV
  FEKMHRMDLSERAKDEVREAALKSFNKRKPLSLGITRKERPPLDVDEMLERFKTEAQAFTETKGNVICLGKEVFK
  GKKPDKDNRCRYILKTKFREMWKSWPGDSKEVQVMAERYKMLIPFSNPRVLPGPFSYTVVLYGPAGLGKTTLAQK
  LMLDWAEDNLIHKFKYAFYLSCRELSRLGPCSFAELVFRDWPELQDDIPHILAQARKILFVIDGFDELGAAPGAL
  IEDICGDWEKKKPVPVLLGSLLNRVMLPKAALLVTTRPRALRDLRILAEEPIYIRVEGFLEEDRRAYFLRHFGDE
  DQAMRAFELMRSNAALFQLGSAPAVCWIVCTTLKLQMEKGEDPVPTCLTRTGLFLRFLCSRFPQGAQLRGALRTL
  SLLAAQGLWAQTSVLHREDLERLGVQESDLRLFLDGDILRQDRVSKGCYSFIHLSFQQFLTALFYTLEKEEEEDR
  DGHTWDIGDVQKLLSGVERLRNPDLIQAGYYSFGLANEKRAKELEATFGCRMSPDIKQELLRCDISCKGGHSTVT
  DLQELLGCLYESQEEELVKEVMAQFKEISLHLNAVDVVPSSFCVKHCRNLQKMSLQVIKENLPENVTASESDAEV
  ERSQDDQHMLPFWTDLCSIFGSNKDLMGLAINDSFLSASLVRILCEQIASDTCHLQRVVFKNISPADAHRNLCLA
  LRGHKTVTYLTLQGNDQDDMFPALCEVLRHPECNLRYLGLVSCSATTQQWADLSLALEVNQSLTCVNLSDNELLD
  EGAKLLYTTLRHPKCFLQRLSLENCHLTEANCKDLAAVLVVSRELTHLCLAKNPIGNTGVKFLCEGLRYPECKLQ
  TLVLWNCDITSDGCCDLTKLLQEKSSLLCLDLGLNHIGVKGMKFLCEALRKPLCNLRCLWLWGCSIPPFSCEDLC
  SALSCNQSLVTLDLGQNPLGSSGVKMLFETLTCSSGTLRTLRLKIDDFNDELNKLLEEIEEKNPQLIIDTEKHHP
  WAERPSSHDFMI

• Structural information:
  • Protein Domains: (1..9-)
    (/note="Pyrin-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00061-)
    (207..52-)
    (/note="NACHT-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00136"-)
  • Interpro: IPR004020  IPR011029  IPR001611  IPR032675  IPR007111   IPR041267  IPR041075  IPR027417  
  • Prosite: PS50824 PS50837
  • DIP: 42460
  • STRING: ENSP00000445135
• Other Databases: GeneCards:  NLRP2  Malacards:  NLRP2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043280	positive regulation of cysteine-type endopeptidase activity involved in apoptotic process	IDA	biological process
GO:0032090	Pyrin domain binding	IPI	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0050718	positive regulation of interleukin-1 beta secretion	IDA	biological process
GO:0050718	positive regulation of interleukin-1 beta secretion	IBA	biological process
GO:0045087	innate immune response	IEA	biological process
GO:0002376	immune system process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0006915	apoptotic process	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0006954	inflammatory response	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0000784	nuclear chromosome, telomeric region	IDA	colocalizes with
GO:0005737	cytoplasm	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0032088	negative regulation of NF-kappaB transcription factor activity	IGI	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Male factor infertility	MIK: 29961538
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
29961538	Male factor infertility			318 (128 couples presenting with OAT (MF) and 118 maternal age-matched control (no MF) subjects undergoing infertility treatment, 72 surplus cryopreserved blastocysts)	Male infertility	RNA-seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray