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Nlrp12 Gene Detail
Summary
  • Symbol
    Nlrp12
  • Name
    NLR family, pyrin domain containing 12
  • Synonyms
    Nalp12
  • Feature Type
    protein coding gene
  • IDs
    MGI:2676630
    NCBI Gene: 378425
Location & Maps
more
  • Sequence Map
    Chr7:3218784-3249740 bp, - strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      30957 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    NLRP12, NLR family, pyrin domain containing 12
  • Vertebrate Orthologs
    8
  • Human Ortholog
    NLRP12, NLR family, pyrin domain containing 12
    Orthology source: HomoloGene
  • Synonyms
    CLR19.3, FCAS2, NALP12, PAN6, PYPAF7, RNO, RNO2
  • Links
    NCBI Gene ID: 91662
    neXtProt AC: NX_P59046

  • Chr Location
    19q13.42; chr19:53793584-53824403 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human NLRP12 associations

Human Disease Mouse Models
       Familial Cold Autoinflammatory Syndrome 2; FCAS2   OMIM: 611762
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    11 phenotypes from 2 alleles in 3 genetic backgrounds
    15 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
Mice homozygous for a null allele have defects in dendritic and myeloid cell migration and a decreased susceptibility to type IV hypersensitivity reactions. Mice homozygous for a second null allele display increased susceptibility to induced colitis and to chemically-induced tumors.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
  • cDNA Data
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000078817 Ensembl Gene Model | MGI Sequence Detail 30957 C57BL/6J ±  kb
transcript ENSMUST00000108653 Ensembl | MGI Sequence Detail 6928 Not Applicable  
polypeptide ENSMUSP00000104293 Ensembl | MGI Sequence Detail 1054 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    232 from dbSNP Build 137
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 14
    cDNA 14
References
more
  • Summaries
    All 31
    Gene Ontology 5
    Phenotypes 15
  • Earliest
    J:86696 Zambrowicz BP, et al., Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention. Proc Natl Acad Sci U S A. 2003 Nov 25;100(24):14109-14
  • Latest
    J:226567 Krauss JL, et al., NLRP12 provides a critical checkpoint for osteoclast differentiation. Proc Natl Acad Sci U S A. 2015 Aug 18;112(33):10455-60

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory