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
• 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:0000166	Function	Nucleotide binding	IEA
GO:0001818	Process	Negative regulation of cytokine production	IDA	16203735
GO:0005515	Function	Protein binding	IPI	12019269, 16203735, 17237370, 19337385, 32226298, 33372854
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IDA	12019269
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	12019269
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0007165	Process	Signal transduction	NAS	12019269
GO:0009968	Process	Negative regulation of signal transduction	IDA	16203735
GO:0030674	Function	Protein-macromolecule adaptor activity	IEA
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:0036336	Process	Dendritic cell migration	IEA
GO:0043122	Process	Regulation of canonical NF-kappaB signal transduction	IDA	12019269
GO:0043124	Process	Negative regulation of canonical NF-kappaB signal transduction	IBA
GO:0043124	Process	Negative regulation of canonical NF-kappaB signal transduction	IDA	16203735, 18230725
GO:0045345	Process	Positive regulation of MHC class I biosynthetic process	IBA
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:0050727	Process	Regulation of inflammatory response	IBA
GO:0050728	Process	Negative regulation of inflammatory response	IEA
GO:0050728	Process	Negative regulation of inflammatory response	IMP	18230725
GO:0050729	Process	Positive regulation of inflammatory response	NAS	12019269
GO:0070371	Process	ERK1 and ERK2 cascade	IEA
GO:0070373	Process	Negative regulation of ERK1 and ERK2 cascade	IEA
GO:0071345	Process	Cellular response to cytokine stimulus	IEA
GO:0140608	Function	Cysteine-type endopeptidase activator activity	NAS	12019269
GO:1901223	Process	Negative regulation of non-canonical NF-kappaB signal transduction	IBA
GO:1901223	Process	Negative regulation of non-canonical NF-kappaB signal transduction	IDA	17237370
GO:1901223	Process	Negative regulation of non-canonical NF-kappaB signal transduction	IEA
GO:1901224	Process	Positive regulation of non-canonical NF-kappaB signal transduction	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

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Autoinflammatory syndrome	Likely pathogenic	rs1600700389	RCV002264138	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial cold autoinflammatory syndrome 2	Likely pathogenic; Pathogenic	rs766603266, rs745881796, rs2122677940, rs1248333537, rs147080557, rs1404302953, rs1302931500, rs1599842537	RCV001729982 RCV001782530 RCV002250868 RCV002293382 RCV000627080 RCV000688078 RCV000696336 RCV000804522	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTOIMMUNE INTERSTITIAL LUNG DISEASE, ARTHRITIS SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune interstitial lung disease-arthritis syndrome	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BELL'S PALSY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, RENAL CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Childhood-onset schizophrenia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cold autoinflammatory syndrome	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2, SUSCEPTIBILITY TO	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multisystem inflammatory syndrome in children	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NLRP12-associated autoinflammatory disease	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NLRP12-related disorder	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Periodic fever syndrome	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA, CHILDHOOD	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of the head and neck	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acquired Hypogammaglobulinemia	Common Variable Immunodeficiency	BEFREE	25064839		★☆☆☆☆ Found in Text Mining only
Alzheimer disease, familial, type 3	Alzheimer disease	BEFREE	27633793		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	25064839		★☆☆☆☆ Found in Text Mining only
Arthralgia	Arthralgia	Pubtator	21360512, 37877365	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	Pubtator	37877365	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	36113963	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	30788684	Associate	★☆☆☆☆ Found in Text Mining only
AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS	Autoinflammation With Arthritis And Dyskeratosis	BEFREE	28387826		★☆☆☆☆ Found in Text Mining only
Autoinflammatory disorder	Autoinflammatory Disease	BEFREE	18230725, 21480187, 29500522, 29951964, 30788684, 31820221		★☆☆☆☆ Found in Text Mining only
Autoinflammatory disorder	Autoinflammatory Disease	GENOMICS_ENGLAND_DG	29248470		★☆☆☆☆ Found in Text Mining only
C3 glomerulopathy	C3 Glomerulopathy	BEFREE	29951964		★☆☆☆☆ Found in Text Mining only
Carcinoid Tumor	Carcinoid tumor	Pubtator	30788684	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	28557708		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	30183354		★☆☆☆☆ Found in Text Mining only
Chromophobe Renal Cell Carcinoma	Chromophobe Carcinoma	CTD_human_DG	23797736		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	27105524, 28288099, 28605639, 29044233		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	Pubtator	40225939	Associate	★☆☆☆☆ Found in Text Mining only
Collecting Duct Carcinoma of the Kidney	Renal Carcinoma	CTD_human_DG	23797736		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	25249449		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	26378020	Associate	★☆☆☆☆ Found in Text Mining only
Common Variable Immunodeficiency	Common Variable Immunodeficiency	BEFREE	25064839		★☆☆☆☆ Found in Text Mining only
Common Variable Immunodeficiency	Common variable immunodeficiency	Pubtator	26122175	Associate	★☆☆☆☆ Found in Text Mining only
Conjunctivitis	Conjunctivitis	Pubtator	37877365	Associate	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	23797736		★☆☆☆☆ Found in Text Mining only
Corneal Diseases	Corneal Diseases	BEFREE	30556841		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	30551324		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	30551324		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	30551324		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	31169706, 35538558, 39181275, 40225939	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	30551324		★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic 1	Atopic dermatitis	Pubtator	30788684	Associate	★☆☆☆☆ Found in Text Mining only
Diarrhea	Diarrhea	Pubtator	30788684, 37877365	Associate	★☆☆☆☆ Found in Text Mining only
Exanthema	Exanthema	Pubtator	30788684, 37877365	Associate	★☆☆☆☆ Found in Text Mining only
Familial Cold Autoinflammatory Syndrome 2	Cold Autoinflammatory Syndrome	CLINVAR_DG	18230725		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial Cold Autoinflammatory Syndrome 2	Cold Autoinflammatory Syndrome	ORPHANET_DG	18230725		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial Cold Autoinflammatory Syndrome 2	Cold Autoinflammatory Syndrome	GENOMICS_ENGLAND_DG	24064030, 29248470		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial Cold Autoinflammatory Syndrome 2	Cold Autoinflammatory Syndrome	BEFREE	30183354		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial Cold Autoinflammatory Syndrome 2	Cold autoinflammatory syndrome	Pubtator	37877365	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial Cold Autoinflammatory Syndrome 2	Cold Autoinflammatory Syndrome	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial cold urticaria	Cold urticaria	BEFREE	21360512, 27314497		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	31186453		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	31186453	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	31186453		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	31186453		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	31186453	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Autoinflammatory Diseases	Autoinflammatory Disease	BEFREE	18230725, 28387826		★☆☆☆☆ Found in Text Mining only
Hypophosphatasia	Hypophosphatasia	Pubtator	39276275	Associate	★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	Pubtator	30788684	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	31169706		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	31169706	Associate	★☆☆☆☆ Found in Text Mining only
Keratitis	Keratitis	BEFREE	30556841		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	30990169		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	39290707	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Carcinoid Syndrome	Carcinoid tumor of intestine	BEFREE	30788684		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	28663562		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	25249449		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	30551324		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	28557708		★☆☆☆☆ Found in Text Mining only
Moyamoya Disease	Moyamoya disease	Pubtator	39290707	Associate	★☆☆☆☆ Found in Text Mining only
Muckle-Wells Syndrome	Muckle-Wells Syndrome	BEFREE	29951964		★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	BEFREE	29721174		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	31170158	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	30212643, 30212649		★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	30681895		★☆☆☆☆ Found in Text Mining only
Papillary Renal Cell Carcinoma	Papillary Renal Carcinoma	CTD_human_DG	23797736		★☆☆☆☆ Found in Text Mining only
Periapical Periodontitis	Periapical Periodontitis	BEFREE	30681895		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	38167332	Associate	★☆☆☆☆ Found in Text Mining only
Pharyngitis	Pharyngitis	BEFREE	31155445		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	38167332	Associate	★☆☆☆☆ Found in Text Mining only
Polymyalgia Rheumatica	Polymyalgia rheumatica	Pubtator	38177227	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	28663562		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	28663562	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	29623357	Associate	★☆☆☆☆ Found in Text Mining only
Recurrent aphthous ulcer	Aphthous Ulcer	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	23797736		★☆☆☆☆ Found in Text Mining only
Sarcomatoid Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	23797736		★☆☆☆☆ Found in Text Mining only
Schizophrenia, Childhood	Schizophrenia	CLINVAR_DG	26508570		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	27314497	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	24901306	Associate	★☆☆☆☆ Found in Text Mining only
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)	Arthrocutaneouveal granulomatosis	BEFREE	31155445		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	28288099, 31061672, 31363381		★☆☆☆☆ Found in Text Mining only
Urticaria	Urticaria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vesicular Stomatitis	Vesicular Stomatitis	BEFREE	30902577		★☆☆☆☆ Found in Text Mining only
Yao syndrome	Yao Syndrome	BEFREE	31155445		★☆☆☆☆ Found in Text Mining only