NLRP6 (NLR family pyrin domain containing 6)

Gene

• Entrez ID: 171389
• Gene name: NLR family pyrin domain containing 6
• Gene symbol: NLRP6
• Synonyms (NCBI Gene): AVR, CLR11.4, NALP6, NAVR, NAVR/AVR, PAN3, PYPAF5
• Chromosome: 11
• Chromosome location: 11p15.5
• Summary: The protein encoded by this gene binds arginine-vasopressin and may be involved in the arginine-vasopressin-mediated regulation of renal salt-water balance. The encoded protein also mediates inflammatory responses in the colon to allow recovery from intes

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT452032	hsa-miR-3125	PAR-CLIP	23592263
MIRT452031	hsa-miR-3916	PAR-CLIP	23592263
MIRT452030	hsa-miR-6859-5p	PAR-CLIP	23592263
MIRT452028	hsa-miR-4476	PAR-CLIP	23592263
MIRT452029	hsa-miR-6876-5p	PAR-CLIP	23592263
MIRT452027	hsa-miR-4768-3p	PAR-CLIP	23592263
MIRT452026	hsa-miR-4459	PAR-CLIP	23592263
MIRT452025	hsa-miR-4433a-3p	PAR-CLIP	23592263
MIRT452024	hsa-miR-3664-3p	PAR-CLIP	23592263
MIRT452023	hsa-miR-1266-5p	PAR-CLIP	23592263
MIRT452022	hsa-miR-4518	PAR-CLIP	23592263
MIRT452021	hsa-miR-363-5p	PAR-CLIP	23592263
MIRT452020	hsa-miR-6745	PAR-CLIP	23592263
MIRT452019	hsa-miR-6756-5p	PAR-CLIP	23592263
MIRT452018	hsa-miR-6766-5p	PAR-CLIP	23592263
MIRT452017	hsa-miR-1293	PAR-CLIP	23592263
MIRT452016	hsa-miR-4483	PAR-CLIP	23592263
MIRT452015	hsa-miR-6880-5p	PAR-CLIP	23592263
MIRT452014	hsa-miR-6769a-5p	PAR-CLIP	23592263
MIRT452013	hsa-miR-6769b-5p	PAR-CLIP	23592263
MIRT452012	hsa-miR-6748-5p	PAR-CLIP	23592263
MIRT452032	hsa-miR-3125	PAR-CLIP	23592263
MIRT452031	hsa-miR-3916	PAR-CLIP	23592263
MIRT452030	hsa-miR-6859-5p	PAR-CLIP	23592263
MIRT452028	hsa-miR-4476	PAR-CLIP	23592263
MIRT452029	hsa-miR-6876-5p	PAR-CLIP	23592263
MIRT452027	hsa-miR-4768-3p	PAR-CLIP	23592263
MIRT452026	hsa-miR-4459	PAR-CLIP	23592263
MIRT452025	hsa-miR-4433a-3p	PAR-CLIP	23592263
MIRT452024	hsa-miR-3664-3p	PAR-CLIP	23592263
MIRT452023	hsa-miR-1266-5p	PAR-CLIP	23592263
MIRT452022	hsa-miR-4518	PAR-CLIP	23592263
MIRT452021	hsa-miR-363-5p	PAR-CLIP	23592263
MIRT452020	hsa-miR-6745	PAR-CLIP	23592263
MIRT452019	hsa-miR-6756-5p	PAR-CLIP	23592263
MIRT452018	hsa-miR-6766-5p	PAR-CLIP	23592263
MIRT452017	hsa-miR-1293	PAR-CLIP	23592263
MIRT452016	hsa-miR-4483	PAR-CLIP	23592263
MIRT452015	hsa-miR-6880-5p	PAR-CLIP	23592263
MIRT452014	hsa-miR-6769a-5p	PAR-CLIP	23592263
MIRT452013	hsa-miR-6769b-5p	PAR-CLIP	23592263
MIRT452012	hsa-miR-6748-5p	PAR-CLIP	23592263

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001530	Function	Lipopolysaccharide binding	IDA	31932628
GO:0002376	Process	Immune system process	IEA
GO:0002438	Process	Acute inflammatory response to antigenic stimulus	IEA
GO:0002526	Process	Acute inflammatory response	IBA
GO:0002526	Process	Acute inflammatory response	IEA
GO:0002862	Process	Negative regulation of inflammatory response to antigenic stimulus	IEA
GO:0003725	Function	Double-stranded RNA binding	IDA	34678144
GO:0003725	Function	Double-stranded RNA binding	IEA
GO:0005000	Function	Vasopressin receptor activity	IBA
GO:0005000	Function	Vasopressin receptor activity	ISS
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA	31932628
GO:0005829	Component	Cytosol	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0006954	Process	Inflammatory response	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0009306	Process	Protein secretion	IDA	33883744
GO:0009617	Process	Response to bacterium	IEA
GO:0010506	Process	Regulation of autophagy	IEA
GO:0016020	Component	Membrane	IEA
GO:0031965	Component	Nuclear membrane	IEA
GO:0032689	Process	Negative regulation of type II interferon production	IEA
GO:0032731	Process	Positive regulation of interleukin-1 beta production	IDA	15326478
GO:0032741	Process	Positive regulation of interleukin-18 production	IDA	15326478
GO:0034122	Process	Negative regulation of toll-like receptor signaling pathway	IEA
GO:0035591	Function	Signaling adaptor activity	IDA	34678144
GO:0035655	Process	Interleukin-18-mediated signaling pathway	IDA	14528293
GO:0038023	Function	Signaling receptor activity	IEA
GO:0038187	Function	Pattern recognition receptor activity	IDA	31932628, 33377178, 34678144
GO:0038187	Function	Pattern recognition receptor activity	IEA
GO:0042060	Process	Wound healing	IEA
GO:0042277	Function	Peptide binding	IBA
GO:0043124	Process	Negative regulation of canonical NF-kappaB signal transduction	IEA
GO:0043228	Component	Membraneless organelle	IDA	34678144
GO:0043409	Process	Negative regulation of MAPK cascade	IEA
GO:0045087	Process	Innate immune response	IEA
GO:0048874	Process	Host-mediated modulation of intestinal microbiota composition	IEA
GO:0050727	Process	Regulation of inflammatory response	IBA
GO:0050727	Process	Regulation of inflammatory response	IEA
GO:0050727	Process	Regulation of inflammatory response	ISS
GO:0050729	Process	Positive regulation of inflammatory response	IDA	15326478, 32553275, 33883744
GO:0050729	Process	Positive regulation of inflammatory response	IDA	33377178
GO:0050729	Process	Positive regulation of inflammatory response	IEA
GO:0050777	Process	Negative regulation of immune response	IEA
GO:0050830	Process	Defense response to Gram-positive bacterium	IDA	33377178, 34678144
GO:0050830	Process	Defense response to Gram-positive bacterium	IEA
GO:0051260	Process	Protein homooligomerization	IDA	30674671, 31932628, 34678144
GO:0051260	Process	Protein homooligomerization	IEA
GO:0051604	Process	Protein maturation	IDA	15326478, 32553275
GO:0051607	Process	Defense response to virus	IDA	34161762, 34678144
GO:0051607	Process	Defense response to virus	IEA
GO:0061702	Component	Canonical inflammasome complex	IBA
GO:0061702	Component	Canonical inflammasome complex	IEA
GO:0070255	Process	Regulation of mucus secretion	IEA
GO:0070266	Process	Necroptotic process	IEA
GO:0070269	Process	Pyroptotic inflammatory response	IDA	32109412, 33883744
GO:0070269	Process	Pyroptotic inflammatory response	IEA
GO:0070373	Process	Negative regulation of ERK1 and ERK2 cascade	IEA
GO:0070498	Process	Interleukin-1-mediated signaling pathway	IDA	1919436
GO:0070891	Function	Lipoteichoic acid binding	IDA	30392956, 33377178, 34678144
GO:0070891	Function	Lipoteichoic acid binding	IEA
GO:0070946	Process	Neutrophil-mediated killing of gram-positive bacterium	IEA
GO:0140374	Process	Antiviral innate immune response	IDA	34161762
GO:0140374	Process	Antiviral innate immune response	IEA
GO:0140693	Function	Molecular condensate scaffold activity	IDA	34678144
GO:0140693	Function	Molecular condensate scaffold activity	IEA
GO:0140738	Component	NLRP6 inflammasome complex	IDA	30674671, 31932628, 34678144
GO:0140738	Component	NLRP6 inflammasome complex	IEA
GO:0140739	Process	NLRP6 inflammasome complex assembly	IDA	30674671, 31932628, 34678144
GO:0140739	Process	NLRP6 inflammasome complex assembly	IEA
GO:2000494	Process	Positive regulation of interleukin-18-mediated signaling pathway	IDA	33377178, 34161762
GO:2000494	Process	Positive regulation of interleukin-18-mediated signaling pathway	IEA

Other IDs

• MIM: 609650
• HGNC: 22944
• e!Ensembl: ENSG00000174885

Protein

• UniProt ID: P59044
• Protein name: NACHT, LRR and PYD domains-containing protein 6 (Angiotensin II/vasopressin receptor) (PYRIN-containing APAF1-like protein 5)
• Protein function: Acts as the sensor component of the NLRP6 inflammasome, which mediates inflammasome activation in response to various pathogen-associated signals, leading to maturation and secretion of IL1B and IL18 (PubMed:30392956, PubMed:34678144). Inflammas
• PDB: 6NCV, 6NDJ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02758	PYRIN	21 → 95	PAAD/DAPIN/Pyrin domain	Domain
  PF05729	NACHT	196 → 365	NACHT domain	Domain
  PF17779	NOD2_WH	440 → 497	NOD2 winged helix domain	Domain
  PF17776	NLRC4_HD2	500 → 636	NLRC4 helical domain HD2	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in peripheral blood leukocytes, predominantly in granulocytes and, at lower levels, in CD4(+) and CD8(+) T-cells (PubMed:12387869). Expressed in colonic myofibroblasts (at protein level) (PubMed:21593405). {ECO:0000269|PubMed
• Sequence:

  MDQPEAPCSSTGPRLAVARELLLAALEELSQEQLKRFRHKLRDVGPDGRSIPWGRLERAD
  AVDLAEQLAQFYGPEPALEVARKTLKRADARDVAAQLQERRLQRLGLGSGTLLSVSEYKK
  KYREHVLQLHARVKERNARSVKITKRFTKLLIAPESAAPEEAMGPAEEPEPGRARRSDTH
  TFNRLFRRDEEGRRPLTVVLQGPAGIGKTMAAKKILYDWAAGKLYQGQVDFAFFMPCGEL
  LERPGTRSLADLILDQCPDRGAPVPQMLAQPQRLLFILDGADELPALGGPEAAPCTDPFE
  AASGARVLGGLLSKALLPTALLLVTTRAAAPGRLQGRLCSPQCAEVRGFSDKDKKKYFYK
  YFRDERRAERAYRFVKENETLFALCFVPFVCWIVCTVLRQQLELGRDLSRTSKTTTSVYL
  LFITSVLSSAPVADGPRLQGDLRNLCRLAREGVLGRRAQFAEKELEQLELRGSKVQTLFL
  SKKELPGVLETEVTYQFIDQSFQEFLAALSYLLEDGGVPRTAAGGVGTLLRGDAQPHSHL
  VLTTRFLFGLLSAERMRDIERHFGCMVSERVKQEALRWVQGQGQGCPGVAPEVTEGAKGL
  EDTEEPEEEEEGEEPNYPLELLYCLYETQEDAFVRQALCRFPELALQRVRFCRMDVAVLS
  YCVRCCPAGQALRLISCRLVAAQEKKKKSLGKRLQASLGGGSSSQGTTKQLPASLLHPLF
  QAMTDPLCHLSSLTLSHCKLPDAVCRDLSEALRAAPALTELGLLHNRLSEAGLRMLSEGL
  AWPQCRVQTVRVQLPDPQRGLQYLVGMLRQSPALTTLDLSGCQLPAPMVTYLCAVLQHQG
  CGLQTLSLASVELSEQSLQELQAVKRAKPDLVITHPALDGHPQPPKELISTF

• Sequence length: 892

Pathways

KEGG:

NOD-like receptor signaling pathway

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AORTIC STENOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENINGIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Aortic Valve Insufficiency	Aortic Valve Insufficiency	BEFREE	30292845, 30343820, 31158809		★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic Valve Sclerosis	BEFREE	27866867, 28500139, 29086035, 30311005, 30590991, 30972479, 31537261, 31705575		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	28295271	Inhibit	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	28552098, 28962509, 31705575		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	10213225		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	36662875	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	35242200, 35651286, 36920176, 37464443, 37919059	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	31561077		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	30590991		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	28445725, 29139477, 29281815, 30858572		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	27353251, 29340077		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	26378020, 36662875	Associate	★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	28500139		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	28295271		★☆☆☆☆ Found in Text Mining only
Delirium	Delirium	BEFREE	30549428		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	29108790		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	29108790		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	37538791	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	23294928		★☆☆☆☆ Found in Text Mining only
Dry Eye Syndromes	Dry Eye Syndromes	BEFREE	28238526, 30008389		★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	24147025		★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	Pubtator	24147025	Associate	★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	29966662		★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	30858572		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	28500139		★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	BEFREE	30262203		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	24147025	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	24147025		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	28445725		★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	29329362, 30663229, 31528095		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	31504777		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	31561077		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	29340077, 30568504, 31219209		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29340077, 31670882		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	27353251, 29340077		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	29108790		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30568504		★☆☆☆☆ Found in Text Mining only
Nephritis	Nephritis	BEFREE	31504777		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	29617839		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	30826992		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	29791256		★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	28926162		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	28295271, 28926162		★☆☆☆☆ Found in Text Mining only
Sex Differentiation Disorders	Sex Differentiation Disorders	BEFREE	31528095		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	35574984	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	29340077, 30568504, 31219209		★☆☆☆☆ Found in Text Mining only