ENSG00000142405


Homo sapiens

Features
Gene ID: ENSG00000142405
  
Biological name :NLRP12
  
Synonyms : NLR family pyrin domain containing 12 / NLRP12 / P59046
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 19
Strand: -1
Band: q13.42
Gene start: 53793603
Gene end: 53824394
  
Corresponding Affymetrix probe sets: 1554952_s_at (Human Genome U133 Plus 2.0 Array)   223944_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000375655
Ensembl peptide - ENSP00000341428
Ensembl peptide - ENSP00000375652
Ensembl peptide - ENSP00000375653
Ensembl peptide - ENSP00000319377
NCBI entrez gene - 91662     See in Manteia.
OMIM - 609648
RefSeq - XM_017027467
RefSeq - XM_017027461
RefSeq - XM_017027462
RefSeq - XM_017027463
RefSeq - XM_017027464
RefSeq - XM_017027465
RefSeq - XM_017027466
RefSeq - NM_001277126
RefSeq - NM_001277129
RefSeq - NM_144687
RefSeq - XM_011527479
RefSeq - XM_011527480
RefSeq - XM_011527482
RefSeq - XM_017027460
RefSeq Peptide - NP_653288
RefSeq Peptide - NP_001264055
RefSeq Peptide - NP_001264058
swissprot - A0A0C4DH17
swissprot - P59046
swissprot - A0A0C4DFY3
Ensembl - ENSG00000142405
  
Related genetic diseases (OMIM): 611762 - Familial cold autoinflammatory syndrome 2, 611762
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 FO704635.1ENSDARG00000105141Danio rerio
 nlrb5ENSDARG00000090699Danio rerio
 si:ch211-66k16.2ENSDARG00000095634Danio rerio
 si:ch211-66k16.28ENSDARG00000088423Danio rerio
 E9Q5R7ENSMUSG00000078817Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
NLRP3 / Q96P20 / NLR family pyrin domain containing 3ENSG0000016271147
NLRP14 / Q86W24 / NLR family pyrin domain containing 14ENSG0000015807738
NLRP1 / Q9C000 / NLR family pyrin domain containing 1ENSG0000009159234
NLRP4 / Q96MN2 / NLR family pyrin domain containing 4ENSG0000016050532
NLRP5 / P59047 / NLR family pyrin domain containing 5ENSG0000017148731
NLRP7 / Q8WX94 / NLR family pyrin domain containing 7ENSG0000016763431
NLRP9 / Q7RTR0 / NLR family pyrin domain containing 9ENSG0000018579231
NLRP13 / Q86W25 / NLR family pyrin domain containing 13ENSG0000017357231
NLRP2 / Q9NX02 / NLR family pyrin domain containing 2ENSG0000002255631
NLRP8 / Q86W28 / NLR family pyrin domain containing 8ENSG0000017970930
NLRP6 / P59044 / NLR family pyrin domain containing 6ENSG0000017488527
NLRP11 / P59045 / NLR family pyrin domain containing 11ENSG0000017987326
NLRP10 / Q86W26 / NLR family pyrin domain containing 10ENSG0000018226121
RNH1 / P13489 / ribonuclease/angiogenin inhibitor 1ENSG0000002319115


Protein motifs (from Interpro)
Interpro ID Name
 IPR001611  Leucine-rich repeat
 IPR004020  DAPIN domain
 IPR007111  NACHT nucleoside triphosphatase
 IPR011029  Death-like domain superfamily
 IPR027417  P-loop containing nucleoside triphosphate hydrolase
 IPR029495  NACHT-associated domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process NAS
 biological_processGO:0007165 signal transduction NAS
 biological_processGO:0009968 negative regulation of signal transduction IDA
 biological_processGO:0031953 negative regulation of protein autophosphorylation IDA
 biological_processGO:0032088 negative regulation of NF-kappaB transcription factor activity IDA
 biological_processGO:0036336 dendritic cell migration IEA
 biological_processGO:0043122 regulation of I-kappaB kinase/NF-kappaB signaling IDA
 biological_processGO:0043124 negative regulation of I-kappaB kinase/NF-kappaB signaling IDA
 biological_processGO:0043281 regulation of cysteine-type endopeptidase activity involved in apoptotic process IDA
 biological_processGO:0045345 positive regulation of MHC class I biosynthetic process IDA
 biological_processGO:0045381 regulation of interleukin-18 biosynthetic process NAS
 biological_processGO:0045409 negative regulation of interleukin-6 biosynthetic process IDA
 biological_processGO:0045751 negative regulation of Toll signaling pathway IDA
 biological_processGO:0050710 negative regulation of cytokine secretion IDA
 biological_processGO:0050711 negative regulation of interleukin-1 secretion IDA
 biological_processGO:0050718 positive regulation of interleukin-1 beta secretion NAS
 biological_processGO:0050728 negative regulation of inflammatory response IMP
 biological_processGO:0050729 positive regulation of inflammatory response NAS
 biological_processGO:0070373 negative regulation of ERK1 and ERK2 cascade IEA
 biological_processGO:0071345 cellular response to cytokine stimulus IEA
 biological_processGO:1901223 negative regulation of NIK/NF-kappaB signaling IEA
 cellular_componentGO:0005737 cytoplasm IEA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0008656 cysteine-type endopeptidase activator activity involved in apoptotic process NAS


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000407 Hearing loss, sensorineural "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators]
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 HP:0000988 Skin rash 
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 HP:0001025 Urticaria 
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 HP:0001954 Fever, episodic "Periodic (episodic or recurrent) bouts of fever that do not have an infectious cause." [HPO:curators]
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 HP:0002027 Abdominal pain 
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 HP:0002315 Headache "Cephalgia, or pain in the head originating from the cerebral vault." [HPO:curators]
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 HP:0002829 Arthralgia 
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 HP:0003326 Myalgia "A tendency to experience muscle pain." [HPO:curators]
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 HP:0003593 Early onset 
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 HP:0003812 Phenotypic variability 
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 HP:0011107 Recurrent aphthous stomatitis "Recurrent episodes of ulceration of the oral mucosa." [HPO:probinson]
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 HP:0011227 Elevated C-reactive protein level "An abnormal elevation of the C-reactive protein level in serum." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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