Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	91662
Gene name	NLR family pyrin domain containing 12
Gene symbol	NLRP12
Synonyms (NCBI Gene)	CLR19.3FCAS2NALP12PAN6PYPAF7RNORNO2
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

Show/Hide all (21)

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

280

Show/Hide all (280)

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

Show/Hide all (35)

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

MIM	HGNC	e!Ensembl
609648	22938	ENSG00000142405

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

Interactions

View interactions

	KEGG
	NOD-like receptor signaling pathway

1290

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autoinflammatory syndrome	Likely pathogenic	rs1600700389	RCV002264138
Familial cold autoinflammatory syndrome 2	Likely pathogenic; Pathogenic	rs766603266, rs745881796, rs2122677940, rs1248333537, rs147080557, rs1404302953, rs1302931500, rs1599842537	RCV001729982 RCV001782530 RCV002250868 RCV002293382 RCV000627080 RCV000688078 RCV000696336 RCV000804522
See cases	Likely pathogenic; Pathogenic	rs1599842537	RCV002252241

Show/Hide Unknown Diseases (15)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Autoimmune interstitial lung disease-arthritis syndrome	Conflicting classifications of pathogenicity	rs765562062	RCV003239289
Childhood-onset schizophrenia	Conflicting classifications of pathogenicity	rs145171629	RCV000202334
Cholangiocarcinoma	Benign	rs2042294	RCV005921973
Familial cancer of breast	Benign; Likely benign	rs199476247	RCV005894836
Familial cold autoinflammatory syndrome	Conflicting classifications of pathogenicity; Benign; Likely benign	rs104895570, rs12460528, rs34971363, rs142063194, rs34436714, rs4539722, rs763190690, rs150848917, rs562576939, rs10410581, rs533054990, rs199966186, rs34860841, rs10409778, rs4419163, rs544178725 View all (1 more)	RCV000283785 RCV000321519 RCV000376130 RCV000359423 RCV000328717 RCV000273265 RCV000363861 RCV000287397 RCV000312521 RCV000339624 RCV000324999 RCV000407434 RCV000352281 RCV000285754 RCV000405015 RCV000275461 RCV000342490
FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2, SUSCEPTIBILITY TO	Benign	rs34971363	RCV000627082
Gastric cancer	Benign; Likely benign	rs2042294, rs199476247	RCV005921972 RCV005894837
Lung cancer	Benign	rs2042294	RCV005921974
Malignant lymphoma, large B-cell, diffuse	Benign	rs34436714	RCV005894291
Multisystem inflammatory syndrome in children	Conflicting classifications of pathogenicity; Benign; Likely benign	rs35064500, rs533054990	RCV001778921 RCV001778922
NLRP12-associated autoinflammatory disease	Uncertain significance	rs759054060	RCV003325301
NLRP12-related disorder	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; Benign	rs104895566, rs104895570, rs199475865, rs373954247, rs2122658928, rs199985574, rs150562829, rs747701592, rs778404060, rs1600700129, rs2514195317, rs373956169, rs780296520, rs752493616, rs759658980 View all (33 more)	RCV004751260 RCV003915109 RCV003905087 RCV003394060 RCV003408185 RCV003898857 RCV003916482 RCV004750753 RCV003406098 RCV003402158 RCV003412393 RCV003901268 RCV004750917 RCV004750923 RCV003969014 RCV003957696 RCV003910268 RCV003950130 RCV003910269 RCV003910271 RCV003912380 RCV003912381 RCV004751473 RCV003912382 RCV003940320 RCV003969945 RCV003922405 RCV003910270 RCV003922406 RCV003897758 RCV003960349 RCV003392443 RCV003411524 RCV003953156 RCV003892528 RCV003918245 RCV003411731 RCV003396447 RCV004751715 RCV003411775 RCV004751841 RCV003910814 RCV003923159 RCV003895645 RCV003413942 RCV003953510 RCV004751919 RCV004548057
Ovarian serous cystadenocarcinoma	Benign; Likely benign; Conflicting classifications of pathogenicity	rs199476247, rs142487599, rs201596732	RCV005894838 RCV005898738 RCV005913831
Periodic fever syndrome	Uncertain significance	rs112159191	RCV000509371
Squamous cell carcinoma of the head and neck	Uncertain significance	rs760475376	RCV005932074

Show/Hide Text Mining Associations (48)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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

NLRP12 (NLR family pyrin domain containing 12)