NLRP2 (NLR family pyrin domain containing 2)

Gene Gene information from NCBI Gene database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID 55655
Gene name NLR family pyrin domain containing 2
Gene symbol NLRP2
Synonyms (NCBI Gene)
CLR19.9NALP2NBS1OZEMA18PAN1PYPAF2
Chromosome 19
Chromosome location 19q13.42
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
miRNA miRNA information provided by mirtarbase database.
29
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all (29)
miRTarBase ID miRNA Experiments Reference
MIRT018918 hsa-miR-335-5p Microarray 18185580
MIRT486230 hsa-miR-6777-5p PAR-CLIP 23592263
MIRT486229 hsa-miR-6889-5p PAR-CLIP 23592263
MIRT486228 hsa-miR-3150b-3p PAR-CLIP 23592263
MIRT486227 hsa-miR-4784 PAR-CLIP 23592263
Transcription factors Transcription factors information provided by TRRUST V2 database.
3
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all (3)
Transcription factor Regulation Reference
LMX1B Activation 10767331
NFKB1 Activation 18056399
RELA Activation 18056399
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all (21)
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000781 Component Chromosome, telomeric region IDA 24270157
GO:0002376 Process Immune system process IEA
GO:0005515 Function Protein binding IPI 15030775, 17178784, 31015422
GO:0005524 Function ATP binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
609364 22948 ENSG00000022556
Protein Protein information from UniProt database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NX02
Protein 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)
Protein function Suppresses TNF- and CD40-induced NFKB1 activity at the level of the IKK complex, by inhibiting NFKBIA degradation induced by TNF. When associated with PYCARD, activates CASP1, leading to the secretion of mature pro-inflammatory cytokine IL1B. Ma
PDB 9C6V , 9C6W , 9C6X
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02758 PYRIN 10 → 86 PAAD/DAPIN/Pyrin domain Domain
PF05729 NACHT 207 → 375 NACHT domain Domain
PF17779 NOD2_WH 445 → 501 NOD2 winged helix domain Domain
PF17776 NLRC4_HD2 503 → 620 NLRC4 helical domain HD2 Domain
PF13516 LRR_6 809 → 831 Leucine Rich repeat Repeat
PF13516 LRR_6 923 → 946 Leucine Rich repeat Repeat
PF13516 LRR_6 980 → 1003 Leucine Rich repeat Repeat
Tissue specificity TISSUE SPECIFICITY: Expressed at high levels in lung, placenta and thymus and at lower levels in ovary, intestine and brain (PubMed:15456791). Highly abundant in oocytes and early embryos, however poorly expressed in somatic tissues such as brain, kidney,
Sequence 
MVSSAQMGFNLQALLEQLSQDELSKFKYLITTFSLAHELQKIPHKEVDKADGKQLVEILT
THCDSYWVEMASLQVFEKMHRMDLSERAKDEVREAALKSFNKRKPLSLGITRKERPPLDV
DEMLERFKTEAQAFTETKGNVICLGKEVFKGKKPDKDNRCRYILKTKFREMWKSWPGDSK
EVQVMAERYKMLIPFSNPRVLPGPFSYTVVLYGPAGLGKTTLAQKLMLDWAEDNLIHKFK
YAFYLSCRELSRLGPCSFAELVFRDWPELQDDIPHILAQARKILFVIDGFDELGAAPGAL
IEDICGDWEKKKPVPVLLGSLLNRVMLPKAALLVTTRPRALRDLRILAEEPIYIRVEGFL
EEDRRAYFLRHFGDEDQAMRAFELMRSNAALFQLGSAPAVCWIVCTTLKLQMEKGEDPVP
TCLTRTGLFLRFLCSRFPQGAQLRGALRTLSLLAAQGLWAQTSVLHREDLERLGVQESDL
RLFLDGDILRQDRVSKGCYSFIHLSFQQFLTALFYTLEKEEEEDRDGHTWDIGDVQKLLS
GVERLRNPDLIQAGYYSFGLANEKRAKELEATFGCRMSPDIKQELLRCDISCKGGHSTVT
DLQELLGCLYESQEEELVKEVMAQFKEISLHLNAVDVVPSSFCVKHCRNLQKMSLQVIKE
NLPENVTASESDAEVERSQDDQHMLPFWTDLCSIFGSNKDLMGLAINDSFLSASLVRILC
EQIASDTCHLQRVVFKNISPADAHRNLCLALRGHKTVTYLTLQGNDQDDMFPALCEVLRH
PECNLRYLGLVSCSATTQQWADLSLALEVNQSLTCVNLSDNELLDEGAKLLYTTLRHPKC
FLQRLSLENCHLTEANCKDLAAVLVVSRELTHLCLAKNPIGNTGVKFLCEGLRYPECKLQ
TLVLWNCDITSDGCCDLTKLLQEKSSLLCLDLGLNHIGVKGMKFLCEALRKPLCNLRCLW
LWGCSIPPFSCEDLCSALSCNQSLVTLDLGQNPLGSSGVKMLFETLTCSSGTLRTLRLKI
DDFNDELNKLLEEIEEKNPQLIIDTEKHHPWAERPSSHDFMI
Sequence length 1062
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Oocyte/zygote/embryo maturation arrest 18 Pathogenic rs779493327, rs1194295774, rs1266848624 RCV003221756
RCV003221757
RCV003221758
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (10)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Likely benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Likely benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Familial cancer of breast Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (127)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute leukemia Leukemia BEFREE 18691878
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 15338273, 16152606, 21166880
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 15313900
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of pancreas Pancreatic adenocarcinoma BEFREE 10813711
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 16152606, 21166880
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma B-cell Lymphoma BEFREE 19917125
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Hodgkin Lymphoma Hodgkin Lymphoma BEFREE 16152606
★★★★★
★☆☆☆☆
Found in Text Mining only
Aplastic Anemia Aplastic anemia BEFREE 15338273, 24830725
★★★★★
★☆☆☆☆
Found in Text Mining only
Ataxia Telangiectasia Ataxia Telangiectasia BEFREE 11850399, 11981817, 12175309, 12447395, 15064416, 15279807, 15632067, 17028372, 18066087, 22061042
★★★★★
★☆☆☆☆
Found in Text Mining only
ATAXIA-TELANGIECTASIA-LIKE DISORDER Ataxia-Telangiectasia-Like Disorder BEFREE 18575580
★★★★★
★☆☆☆☆
Found in Text Mining only