NLRP12 (NLR family pyrin domain containing 12)

Gene

• Entrez ID: 91662
• Gene name: NLR family pyrin domain containing 12
• Gene symbol: NLRP12
• Synonyms (NCBI Gene): CLR19.3, FCAS2, NALP12, PAN6, PYPAF7, RNO, RNO2
• Disease Acronyms (UniProt): FCAS2
• Chromosome: 19
• Chromosome location: 19q13.42
• Summary: This gene encodes a member of the CATERPILLER family of cytoplasmic proteins. The encoded protein, which contains an N-terminal pyrin domain, a NACHT domain, a NACHT-associated domain, and a C-terminus leucine-rich repeat region, functions as an attenuati

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs34971363	G>A,C	Risk-factor, benign	Synonymous variant, coding sequence variant, missense variant
rs35064500	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity	Stop gained, intron variant, coding sequence variant, missense variant
rs104895565	->A,AA	Not-provided, pathogenic, likely-pathogenic	Splice donor variant
rs111754022	G>A,C,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs141245482	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, benign	Missense variant, coding sequence variant
rs142487599	G>A,C	Uncertain-significance, likely-benign, pathogenic	Stop gained, synonymous variant, coding sequence variant
rs145171629	G>A,C	Likely-pathogenic, likely-benign	Synonymous variant, coding sequence variant
rs146245368	G>A,T	Benign, pathogenic	Stop gained, synonymous variant, coding sequence variant
rs147080557	G>A,C	Pathogenic	Missense variant, synonymous variant, coding sequence variant
rs150280940	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs374537127	A>G,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs752809784	C>T	Pathogenic	Stop gained, coding sequence variant
rs774895361	C>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs1302931500	GAAGAACTCACCACAAAGTCCGTAG>-	Pathogenic	Intron variant, coding sequence variant, splice donor variant
rs1342078475	AG>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1404302953	C>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained, intron variant
rs1555794506	C>T	Likely-pathogenic	Splice acceptor variant
rs1568662444	C>T	Likely-pathogenic	Intron variant, coding sequence variant, stop gained, synonymous variant
rs1599842537	CCTT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1599843277	C>T	Pathogenic	Coding sequence variant, stop gained
rs1600700389	->AA	Likely-pathogenic	Frameshift variant, coding sequence variant, intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT710827	hsa-miR-1273d	HITS-CLIP	19536157
MIRT710826	hsa-miR-6782-3p	HITS-CLIP	19536157
MIRT710825	hsa-miR-6778-3p	HITS-CLIP	19536157
MIRT710824	hsa-miR-6791-3p	HITS-CLIP	19536157
MIRT710823	hsa-miR-6829-3p	HITS-CLIP	19536157
MIRT710822	hsa-miR-6836-3p	HITS-CLIP	19536157
MIRT710821	hsa-miR-3152-5p	HITS-CLIP	19536157
MIRT710827	hsa-miR-1273d	HITS-CLIP	19536157
MIRT710826	hsa-miR-6782-3p	HITS-CLIP	19536157
MIRT710825	hsa-miR-6778-3p	HITS-CLIP	19536157
MIRT710824	hsa-miR-6791-3p	HITS-CLIP	19536157
MIRT710823	hsa-miR-6829-3p	HITS-CLIP	19536157
MIRT710822	hsa-miR-6836-3p	HITS-CLIP	19536157
MIRT710821	hsa-miR-3152-5p	HITS-CLIP	19536157
MIRT710827	hsa-miR-1273d	HITS-CLIP	19536157
MIRT710826	hsa-miR-6782-3p	HITS-CLIP	19536157
MIRT710825	hsa-miR-6778-3p	HITS-CLIP	19536157
MIRT710824	hsa-miR-6791-3p	HITS-CLIP	19536157
MIRT710823	hsa-miR-6829-3p	HITS-CLIP	19536157
MIRT710822	hsa-miR-6836-3p	HITS-CLIP	19536157
MIRT710821	hsa-miR-3152-5p	HITS-CLIP	19536157
MIRT663826	hsa-miR-646	HITS-CLIP	19536157
MIRT663824	hsa-miR-4530	HITS-CLIP	19536157
MIRT714203	hsa-miR-4258	HITS-CLIP	19536157
MIRT663823	hsa-miR-7108-3p	HITS-CLIP	19536157
MIRT714202	hsa-miR-2355-5p	HITS-CLIP	19536157
MIRT710827	hsa-miR-1273d	HITS-CLIP	19536157
MIRT710826	hsa-miR-6782-3p	HITS-CLIP	19536157
MIRT710825	hsa-miR-6778-3p	HITS-CLIP	19536157
MIRT710824	hsa-miR-6791-3p	HITS-CLIP	19536157
MIRT710823	hsa-miR-6829-3p	HITS-CLIP	19536157
MIRT710822	hsa-miR-6836-3p	HITS-CLIP	19536157
MIRT710821	hsa-miR-3152-5p	HITS-CLIP	19536157
MIRT663826	hsa-miR-646	HITS-CLIP	23824327
MIRT663825	hsa-miR-1207-3p	HITS-CLIP	23824327
MIRT663824	hsa-miR-4530	HITS-CLIP	23824327
MIRT663823	hsa-miR-7108-3p	HITS-CLIP	23824327
MIRT663822	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT663821	hsa-miR-6867-3p	HITS-CLIP	23824327
MIRT663820	hsa-miR-629-3p	HITS-CLIP	23824327
MIRT620144	hsa-miR-552-3p	HITS-CLIP	23824327
MIRT620143	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT620142	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT620141	hsa-miR-6807-5p	HITS-CLIP	23824327
MIRT620140	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT647545	hsa-miR-4426	HITS-CLIP	23824327
MIRT647544	hsa-miR-4647	HITS-CLIP	23824327
MIRT647543	hsa-miR-4662b	HITS-CLIP	23824327
MIRT620142	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT620141	hsa-miR-6807-5p	HITS-CLIP	23824327
MIRT620140	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT647542	hsa-miR-3658	HITS-CLIP	23824327
MIRT647541	hsa-miR-7856-5p	HITS-CLIP	23824327
MIRT620142	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT620141	hsa-miR-6807-5p	HITS-CLIP	23824327
MIRT620140	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT620144	hsa-miR-552-3p	HITS-CLIP	23824327
MIRT620143	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT620142	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT620141	hsa-miR-6807-5p	HITS-CLIP	23824327
MIRT620140	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT710827	hsa-miR-1273d	HITS-CLIP	19536157
MIRT710826	hsa-miR-6782-3p	HITS-CLIP	19536157
MIRT710825	hsa-miR-6778-3p	HITS-CLIP	19536157
MIRT710824	hsa-miR-6791-3p	HITS-CLIP	19536157
MIRT710823	hsa-miR-6829-3p	HITS-CLIP	19536157
MIRT710822	hsa-miR-6836-3p	HITS-CLIP	19536157
MIRT710821	hsa-miR-3152-5p	HITS-CLIP	19536157
MIRT710827	hsa-miR-1273d	HITS-CLIP	19536157
MIRT710826	hsa-miR-6782-3p	HITS-CLIP	19536157
MIRT710825	hsa-miR-6778-3p	HITS-CLIP	19536157
MIRT710824	hsa-miR-6791-3p	HITS-CLIP	19536157
MIRT710823	hsa-miR-6829-3p	HITS-CLIP	19536157
MIRT710822	hsa-miR-6836-3p	HITS-CLIP	19536157
MIRT710821	hsa-miR-3152-5p	HITS-CLIP	19536157
MIRT710827	hsa-miR-1273d	HITS-CLIP	19536157
MIRT710826	hsa-miR-6782-3p	HITS-CLIP	19536157
MIRT710825	hsa-miR-6778-3p	HITS-CLIP	19536157
MIRT710824	hsa-miR-6791-3p	HITS-CLIP	19536157
MIRT710823	hsa-miR-6829-3p	HITS-CLIP	19536157
MIRT710822	hsa-miR-6836-3p	HITS-CLIP	19536157
MIRT710821	hsa-miR-3152-5p	HITS-CLIP	19536157
MIRT663826	hsa-miR-646	HITS-CLIP	19536157
MIRT663824	hsa-miR-4530	HITS-CLIP	19536157
MIRT714203	hsa-miR-4258	HITS-CLIP	19536157
MIRT663823	hsa-miR-7108-3p	HITS-CLIP	19536157
MIRT714202	hsa-miR-2355-5p	HITS-CLIP	19536157
MIRT710827	hsa-miR-1273d	HITS-CLIP	19536157
MIRT710826	hsa-miR-6782-3p	HITS-CLIP	19536157
MIRT710825	hsa-miR-6778-3p	HITS-CLIP	19536157
MIRT710824	hsa-miR-6791-3p	HITS-CLIP	19536157
MIRT710823	hsa-miR-6829-3p	HITS-CLIP	19536157
MIRT710822	hsa-miR-6836-3p	HITS-CLIP	19536157
MIRT710821	hsa-miR-3152-5p	HITS-CLIP	19536157
MIRT663826	hsa-miR-646	HITS-CLIP	23824327
MIRT663825	hsa-miR-1207-3p	HITS-CLIP	23824327
MIRT663824	hsa-miR-4530	HITS-CLIP	23824327
MIRT663823	hsa-miR-7108-3p	HITS-CLIP	23824327
MIRT663822	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT663821	hsa-miR-6867-3p	HITS-CLIP	23824327
MIRT663820	hsa-miR-629-3p	HITS-CLIP	23824327
MIRT620144	hsa-miR-552-3p	HITS-CLIP	23824327
MIRT620143	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT620142	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT620141	hsa-miR-6807-5p	HITS-CLIP	23824327
MIRT620140	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT647545	hsa-miR-4426	HITS-CLIP	23824327
MIRT647544	hsa-miR-4647	HITS-CLIP	23824327
MIRT647543	hsa-miR-4662b	HITS-CLIP	23824327
MIRT620142	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT620141	hsa-miR-6807-5p	HITS-CLIP	23824327
MIRT620140	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT647542	hsa-miR-3658	HITS-CLIP	23824327
MIRT647541	hsa-miR-7856-5p	HITS-CLIP	23824327
MIRT620142	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT620141	hsa-miR-6807-5p	HITS-CLIP	23824327
MIRT620140	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT620144	hsa-miR-552-3p	HITS-CLIP	23824327
MIRT620143	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT620142	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT620141	hsa-miR-6807-5p	HITS-CLIP	23824327
MIRT620140	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT1187223	hsa-miR-1234	CLIP-seq
MIRT1187224	hsa-miR-1251	CLIP-seq
MIRT1187225	hsa-miR-1307	CLIP-seq
MIRT1187226	hsa-miR-302a	CLIP-seq
MIRT1187227	hsa-miR-302b	CLIP-seq
MIRT1187228	hsa-miR-302c	CLIP-seq
MIRT1187229	hsa-miR-302d	CLIP-seq
MIRT1187230	hsa-miR-302e	CLIP-seq
MIRT1187231	hsa-miR-3120-5p	CLIP-seq
MIRT1187232	hsa-miR-3159	CLIP-seq
MIRT1187233	hsa-miR-3173-3p	CLIP-seq
MIRT1187234	hsa-miR-372	CLIP-seq
MIRT1187235	hsa-miR-373	CLIP-seq
MIRT1187236	hsa-miR-3929	CLIP-seq
MIRT1187237	hsa-miR-4284	CLIP-seq
MIRT1187238	hsa-miR-4419b	CLIP-seq
MIRT1187239	hsa-miR-4476	CLIP-seq
MIRT1187240	hsa-miR-4478	CLIP-seq
MIRT1187241	hsa-miR-4532	CLIP-seq
MIRT1187242	hsa-miR-4533	CLIP-seq
MIRT1187243	hsa-miR-4634	CLIP-seq
MIRT1187244	hsa-miR-4638-5p	CLIP-seq
MIRT1187245	hsa-miR-4695-5p	CLIP-seq
MIRT1187246	hsa-miR-4757-5p	CLIP-seq
MIRT1187247	hsa-miR-4772-3p	CLIP-seq
MIRT1187248	hsa-miR-485-5p	CLIP-seq
MIRT1187249	hsa-miR-498	CLIP-seq
MIRT1187250	hsa-miR-520a-3p	CLIP-seq
MIRT1187251	hsa-miR-520b	CLIP-seq
MIRT1187252	hsa-miR-520c-3p	CLIP-seq
MIRT1187253	hsa-miR-520d-3p	CLIP-seq
MIRT1187254	hsa-miR-520e	CLIP-seq
MIRT1187255	hsa-miR-593	CLIP-seq
MIRT1187256	hsa-miR-627	CLIP-seq
MIRT1187257	hsa-miR-924	CLIP-seq
MIRT2054241	hsa-miR-1200	CLIP-seq
MIRT2054242	hsa-miR-122	CLIP-seq
MIRT2054243	hsa-miR-1266	CLIP-seq
MIRT1187225	hsa-miR-1307	CLIP-seq
MIRT2054244	hsa-miR-1976	CLIP-seq
MIRT2054245	hsa-miR-198	CLIP-seq
MIRT2054246	hsa-miR-3135b	CLIP-seq
MIRT2054247	hsa-miR-3156-3p	CLIP-seq
MIRT2054248	hsa-miR-3175	CLIP-seq
MIRT2054249	hsa-miR-3199	CLIP-seq
MIRT2054250	hsa-miR-3652	CLIP-seq
MIRT2054251	hsa-miR-3664-3p	CLIP-seq
MIRT2054252	hsa-miR-3664-5p	CLIP-seq
MIRT2054253	hsa-miR-4267	CLIP-seq
MIRT2054254	hsa-miR-4279	CLIP-seq
MIRT1187237	hsa-miR-4284	CLIP-seq
MIRT2054255	hsa-miR-4301	CLIP-seq
MIRT2054256	hsa-miR-4324	CLIP-seq
MIRT2054257	hsa-miR-4430	CLIP-seq
MIRT2054258	hsa-miR-4435	CLIP-seq
MIRT2054259	hsa-miR-4518	CLIP-seq
MIRT1187241	hsa-miR-4532	CLIP-seq
MIRT1187243	hsa-miR-4634	CLIP-seq
MIRT1187244	hsa-miR-4638-5p	CLIP-seq
MIRT2054260	hsa-miR-4695-3p	CLIP-seq
MIRT2054261	hsa-miR-4707-3p	CLIP-seq
MIRT2054262	hsa-miR-4722-3p	CLIP-seq
MIRT1187247	hsa-miR-4772-3p	CLIP-seq
MIRT1187249	hsa-miR-498	CLIP-seq
MIRT2054263	hsa-miR-544b	CLIP-seq
MIRT2054264	hsa-miR-552	CLIP-seq
MIRT2054265	hsa-miR-764	CLIP-seq
MIRT2054241	hsa-miR-1200	CLIP-seq
MIRT2054242	hsa-miR-122	CLIP-seq
MIRT1187223	hsa-miR-1234	CLIP-seq
MIRT1187224	hsa-miR-1251	CLIP-seq
MIRT1187225	hsa-miR-1307	CLIP-seq
MIRT2054244	hsa-miR-1976	CLIP-seq
MIRT1187231	hsa-miR-3120-5p	CLIP-seq
MIRT2054246	hsa-miR-3135b	CLIP-seq
MIRT2054247	hsa-miR-3156-3p	CLIP-seq
MIRT1187233	hsa-miR-3173-3p	CLIP-seq
MIRT2283395	hsa-miR-3187-3p	CLIP-seq
MIRT2054249	hsa-miR-3199	CLIP-seq
MIRT2054250	hsa-miR-3652	CLIP-seq
MIRT2054252	hsa-miR-3664-5p	CLIP-seq
MIRT2054254	hsa-miR-4279	CLIP-seq
MIRT1187237	hsa-miR-4284	CLIP-seq
MIRT2054255	hsa-miR-4301	CLIP-seq
MIRT2054256	hsa-miR-4324	CLIP-seq
MIRT2054257	hsa-miR-4430	CLIP-seq
MIRT2054258	hsa-miR-4435	CLIP-seq
MIRT1187239	hsa-miR-4476	CLIP-seq
MIRT1187241	hsa-miR-4532	CLIP-seq
MIRT1187242	hsa-miR-4533	CLIP-seq
MIRT1187243	hsa-miR-4634	CLIP-seq
MIRT1187244	hsa-miR-4638-5p	CLIP-seq
MIRT1187245	hsa-miR-4695-5p	CLIP-seq
MIRT2054261	hsa-miR-4707-3p	CLIP-seq
MIRT2054262	hsa-miR-4722-3p	CLIP-seq
MIRT2283396	hsa-miR-4755-3p	CLIP-seq
MIRT1187246	hsa-miR-4757-5p	CLIP-seq
MIRT1187249	hsa-miR-498	CLIP-seq
MIRT2054263	hsa-miR-544b	CLIP-seq
MIRT2283397	hsa-miR-548s	CLIP-seq
MIRT2054264	hsa-miR-552	CLIP-seq
MIRT2283398	hsa-miR-588	CLIP-seq
MIRT1187255	hsa-miR-593	CLIP-seq
MIRT2054265	hsa-miR-764	CLIP-seq
MIRT2054249	hsa-miR-3199	CLIP-seq
MIRT2054241	hsa-miR-1200	CLIP-seq
MIRT2054242	hsa-miR-122	CLIP-seq
MIRT2581607	hsa-miR-1254	CLIP-seq
MIRT1187225	hsa-miR-1307	CLIP-seq
MIRT2054244	hsa-miR-1976	CLIP-seq
MIRT2581608	hsa-miR-3116	CLIP-seq
MIRT2054246	hsa-miR-3135b	CLIP-seq
MIRT2054249	hsa-miR-3199	CLIP-seq
MIRT2054250	hsa-miR-3652	CLIP-seq
MIRT2581609	hsa-miR-411	CLIP-seq
MIRT2054254	hsa-miR-4279	CLIP-seq
MIRT1187237	hsa-miR-4284	CLIP-seq
MIRT2054256	hsa-miR-4324	CLIP-seq
MIRT2054257	hsa-miR-4430	CLIP-seq
MIRT1187241	hsa-miR-4532	CLIP-seq
MIRT1187243	hsa-miR-4634	CLIP-seq
MIRT1187244	hsa-miR-4638-5p	CLIP-seq
MIRT2054261	hsa-miR-4707-3p	CLIP-seq
MIRT2054262	hsa-miR-4722-3p	CLIP-seq
MIRT2581610	hsa-miR-4735-5p	CLIP-seq
MIRT1187247	hsa-miR-4772-3p	CLIP-seq
MIRT2581611	hsa-miR-4775	CLIP-seq
MIRT2581612	hsa-miR-4794	CLIP-seq
MIRT1187249	hsa-miR-498	CLIP-seq
MIRT2054263	hsa-miR-544b	CLIP-seq
MIRT2581613	hsa-miR-590-3p	CLIP-seq
MIRT2581614	hsa-miR-661	CLIP-seq
MIRT2054241	hsa-miR-1200	CLIP-seq
MIRT2054242	hsa-miR-122	CLIP-seq
MIRT2581607	hsa-miR-1254	CLIP-seq
MIRT1187225	hsa-miR-1307	CLIP-seq
MIRT2054244	hsa-miR-1976	CLIP-seq
MIRT2581608	hsa-miR-3116	CLIP-seq
MIRT2054246	hsa-miR-3135b	CLIP-seq
MIRT2054249	hsa-miR-3199	CLIP-seq
MIRT2054250	hsa-miR-3652	CLIP-seq
MIRT2054254	hsa-miR-4279	CLIP-seq
MIRT1187237	hsa-miR-4284	CLIP-seq
MIRT2054256	hsa-miR-4324	CLIP-seq
MIRT2054257	hsa-miR-4430	CLIP-seq
MIRT1187241	hsa-miR-4532	CLIP-seq
MIRT1187243	hsa-miR-4634	CLIP-seq
MIRT1187244	hsa-miR-4638-5p	CLIP-seq
MIRT2054261	hsa-miR-4707-3p	CLIP-seq
MIRT2054262	hsa-miR-4722-3p	CLIP-seq
MIRT2581610	hsa-miR-4735-5p	CLIP-seq
MIRT1187247	hsa-miR-4772-3p	CLIP-seq
MIRT2581611	hsa-miR-4775	CLIP-seq
MIRT2581612	hsa-miR-4794	CLIP-seq
MIRT1187249	hsa-miR-498	CLIP-seq
MIRT2054263	hsa-miR-544b	CLIP-seq
MIRT2581613	hsa-miR-590-3p	CLIP-seq
MIRT2581614	hsa-miR-661	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001818	Process	Negative regulation of cytokine production	IDA	16203735
GO:0005515	Function	Protein binding	IPI	12019269, 16203735, 17237370, 19337385, 32226298
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IDA	12019269
GO:0005737	Component	Cytoplasm	IDA	12019269
GO:0006919	Process	Activation of cysteine-type endopeptidase activity involved in apoptotic process	NAS	12019269
GO:0007165	Process	Signal transduction	NAS	12019269
GO:0008656	Function	Cysteine-type endopeptidase activator activity involved in apoptotic process	NAS	12019269
GO:0009968	Process	Negative regulation of signal transduction	IDA	16203735
GO:0031953	Process	Negative regulation of protein autophosphorylation	IDA	16203735
GO:0032088	Process	Negative regulation of NF-kappaB transcription factor activity	IDA	18230725
GO:0032661	Process	Regulation of interleukin-18 production	NAS	12019269
GO:0032692	Process	Negative regulation of interleukin-1 production	IDA	16203735
GO:0032715	Process	Negative regulation of interleukin-6 production	IDA	16203735
GO:0032731	Process	Positive regulation of interleukin-1 beta production	NAS	12019269
GO:0043122	Process	Regulation of I-kappaB kinase/NF-kappaB signaling	IDA	12019269
GO:0043124	Process	Negative regulation of I-kappaB kinase/NF-kappaB signaling	IBA	21873635
GO:0043124	Process	Negative regulation of I-kappaB kinase/NF-kappaB signaling	IDA	16203735
GO:0043281	Process	Regulation of cysteine-type endopeptidase activity involved in apoptotic process	IBA	21873635
GO:0043281	Process	Regulation of cysteine-type endopeptidase activity involved in apoptotic process	IDA	12019269
GO:0045345	Process	Positive regulation of MHC class I biosynthetic process	IBA	21873635
GO:0045345	Process	Positive regulation of MHC class I biosynthetic process	IDA	12759408
GO:0045751	Process	Negative regulation of Toll signaling pathway	IDA	16203735
GO:0050728	Process	Negative regulation of inflammatory response	IMP	18230725
GO:0050729	Process	Positive regulation of inflammatory response	NAS	12019269
GO:0071345	Process	Cellular response to cytokine stimulus	IBA	21873635
GO:1901223	Process	Negative regulation of NIK/NF-kappaB signaling	IDA	17237370
GO:1901224	Process	Positive regulation of NIK/NF-kappaB signaling	IDA	12019269

Other IDs

• MIM: 609648
• HGNC: 22938
• e!Ensembl: ENSG00000142405

Protein

• UniProt ID: P59046
• Protein name: NACHT, LRR and PYD domains-containing protein 12 (Monarch-1) (PYRIN-containing APAF1-like protein 7) (Regulated by nitric oxide)
• Protein function: Plays an essential role as an potent mitigator of inflammation (PubMed:30559449). Primarily expressed in dendritic cells and macrophages, inhibits both canonical and non-canonical NF-kappa-B and ERK activation pathways (PubMed:15489334, PubMed:1
• PDB: 2L6A, 4XHS, 5H7N
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02758	PYRIN	12 → 87	PAAD/DAPIN/Pyrin domain	Domain
  PF14484	FISNA	129 → 201	Fish-specific NACHT associated domain	Family
  PF05729	NACHT	211 → 381	NACHT domain	Domain
  PF17779	NOD2_WH	459 → 512	NOD2 winged helix domain	Domain
  PF17776	NLRC4_HD2	514 → 628	NLRC4 helical domain HD2	Domain
  PF13516	LRR_6	825 → 848	Leucine Rich repeat	Repeat
  PF13516	LRR_6	882 → 905	Leucine Rich repeat	Repeat
  PF13516	LRR_6	939 → 962	Leucine Rich repeat	Repeat
  PF13516	LRR_6	997 → 1019	Leucine Rich repeat	Repeat

• Tissue specificity: TISSUE SPECIFICITY: Detected only in peripheral blood leukocytes, predominantly in eosinophils and granulocytes, and at lower levels in monocytes. {ECO:0000269|PubMed:11167794}.
• Sequence:

  MLRTAGRDGLCRLSTYLEELEAVELKKFKLYLGTATELGEGKIPWGSMEKAGPLEMAQLL
  ITHFGPEEAWRLALSTFERINRKDLWERGQREDLVRDTPPGGPSSLGNQSTCLLEVSLVT
  PRKDPQETYRDYVRRKFRLMEDRNARLGECVNLSHRYTRLLLVKEHSNPMQVQQQLLDTG
  RGHARTVGHQASPIKIETLFEPDEERPEPPRTVVMQGAAGIGKSMLAHKVMLDWADGKLF
  QGRFDYLFYINCREMNQSATECSMQDLIFSCWPEPSAPLQELIRVPERLLFIIDGFDELK
  PSFHDPQGPWCLCWEEKRPTELLLNSLIRKKLLPELSLLITTRPTALEKLHRLLEHPRHV
  EILGFSEAERKEYFYKYFHNAEQAGQVFNYVRDNEPLFTMCFVPLVCWVVCTCLQQQLEG
  GGLLRQTSRTTTAVYMLYLLSLMQPKPGAPRLQPPPNQRGLCSLAADGLWNQKILFEEQD
  LRKHGLDGEDVSAFLNMNIFQKDINCERYYSFIHLSFQEFFAAMYYILDEGEGGAGPDQD
  VTRLLTEYAFSERSFLALTSRFLFGLLNEETRSHLEKSLCWKVSPHIKMDLLQWIQSKAQ
  SDGSTLQQGSLEFFSCLYEIQEEEFIQQALSHFQVIVVSNIASKMEHMVSSFCLKRCRSA
  QVLHLYGATYSADGEDRARCSAGAHTLLVQLPERTVLLDAYSEHLAAALCTNPNLIELSL
  YRNALGSRGVKLLCQGLRHPNCKLQNLRLKRCRISSSACEDLSAALIANKNLTRMDLSGN
  GVGFPGMMLLCEGLRHPQCRLQMIQLRKCQLESGACQEMASVLGTNPHLVELDLTGNALE
  DLGLRLLCQGLRHPVCRLRTLWLKICRLTAAACDELASTLSVNQSLRELDLSLNELGDLG
  VLLLCEGLRHPTCKLQTLRLGICRLGSAACEGLSVVLQANHNLRELDLSFNDLGDWGLWL
  LAEGLQHPACRLQKLWLDSCGLTAKACENLYFTLGINQTLTDLYLTNNALGDTGVRLLCK
  RLSHPGCKLRVLWLFGMDLNKMTHSRLAALRVTKPYLDIGC

• Sequence length: 1061

Pathways

KEGG:

NOD-like receptor signaling pathway

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Arthritis	Arthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470
Autoinflammatory disease	Autoinflammatory disorder	rs777759523, rs121434352, rs28940578, rs28940580, rs121908146, rs121908148, rs121908150, rs80338807, rs121908679, rs104895319, rs104894176, rs28933973, rs28933376, rs137854447, rs61736587, rs148755083, rs104895093, rs104895311, rs104895364, rs104895352, rs104895271, rs104895238, rs151344629, rs180177431, rs376785840, rs587777241, rs77563738, rs202134424, rs864321625, rs864321682, rs864321626, rs864321684, rs864321685, rs869312838, rs869312953, rs766657895, rs140148806, rs753966933, rs764196809, rs200956636, rs147035858, rs1274685768, rs1600700389, rs1776278098, rs754904956, rs1760720617, rs1760720924	29248470
Cold autoinflammatory syndrome	Familial Cold Autoinflammatory Syndrome 2	rs121908146, rs121908148, rs121908149, rs121908150, rs121908151, rs121908152, rs121908153, rs121908154, rs28937896, rs151344629, rs180177503, rs180177437, rs180177445, rs180177433, rs180177430, rs180177478, rs180177458, rs104895389, rs180177491, rs180177438, rs180177435, rs180177469, rs180177473, rs180177452, rs180177449, rs104895392, rs180177476, rs180177441, rs180177447, rs180177484, rs180177431, rs180177468, rs180177470, rs180177456, rs606231460, rs147080557, rs1404302953, rs1302931500, rs1599842537	29248470, 24064030, 18230725
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Papillary renal carcinoma	Papillary Renal Cell Carcinoma	rs5030823, rs2137087134, rs121913668, rs121913669, rs121913670, rs121913671, rs121913673, rs121913243, rs786202724	23797736
Renal carcinoma	Renal Cell Carcinoma, Conventional (Clear Cell) Renal Cell Carcinoma, Sarcomatoid Renal Cell Carcinoma, Collecting Duct Carcinoma of the Kidney	rs121913668, rs121913670, rs121913243, rs786202724	23797736
Schizophrenia	Schizophrenia, Childhood	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	26508570

Unknown
Disease term	Disease name	Evidence	References	Source
Chromophobe carcinoma	Chromophobe Renal Cell Carcinoma		23797736	ClinVar
Breast Cancer	Breast Cancer	Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients		GWAS, CBGDA

Associations from Text Mining
Disease Name	Relationship Type	References
Abdominal Pain	Associate	30788684, 37877365
Arthralgia	Associate	21360512, 37877365
Arthritis	Associate	37877365
Arthritis Psoriatic	Associate	36113963
Autoimmune Diseases	Associate	30788684
Carcinoid Tumor	Associate	30788684
Clinical Deterioration	Associate	30788684
Cold Injury	Associate	21360512
Colitis	Associate	40225939
Colorectal Neoplasms	Associate	26378020
Common Variable Immunodeficiency	Associate	26122175
Conjunctivitis	Associate	37877365
Crohn Disease	Associate	31169706, 35538558, 39181275, 40225939
Cryopyrin Associated Periodic Syndromes	Associate	21360512, 27314497, 37877365
Dermatitis Atopic 1	Associate	30788684
Diarrhea	Associate	30788684, 37877365
Exanthema	Associate	30788684, 37877365
Familial Cold Autoinflammatory Syndrome 2	Associate	37877365
Fatigue	Associate	37877365
Fever	Associate	21360512, 27314497, 30788684, 37877365
Genetic Diseases Inborn	Associate	36113963
Glioblastoma	Associate	31186453
Glioma	Associate	31186453
Helicobacter Infections	Associate	24901306
Helicobacter Infections	Stimulate	24901306
Hereditary Autoinflammatory Diseases	Associate	21360512, 30788684, 31286971, 36113963, 37877365, 37928541, 38177227
Hypophosphatasia	Associate	39276275
Hypothyroidism	Associate	30788684
Immune Reconstitution Inflammatory Syndrome	Stimulate	29135655
Inflammation	Inhibit	18160710, 40225939
Inflammation	Associate	26295359, 28663562, 28678593, 30788684, 33493135
Inflammatory Bowel Diseases	Associate	31169706
Leukemia T Cell	Associate	11167794
Lupus Erythematosus Systemic	Associate	39290707
Moyamoya Disease	Associate	39290707
Multiple Sclerosis	Associate	31170158
Myalgia	Associate	21360512, 37877365
Periodontitis	Associate	38167332
Polycystic Ovary Syndrome	Associate	38167332
Polymyalgia Rheumatica	Associate	38177227
Primary Immunodeficiency Diseases	Associate	18160710
Prostatic Neoplasms	Associate	28663562
Prostatitis	Associate	28663562
Pulmonary Disease Chronic Obstructive	Associate	29623357
Skin Diseases	Associate	27314497
Stomach Neoplasms	Associate	24901306
Syndrome	Associate	37877365
Systemic Inflammatory Response Syndrome	Associate	30788684