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Nlrp6 Gene Detail
Summary
  • Symbol
    Nlrp6
  • Name
    NLR family, pyrin domain containing 6
  • Synonyms
    Nalp6
  • Feature Type
    protein coding gene
  • IDs
    MGI:2141990
    NCBI Gene: 101613
  • Gene Overview
    MyGene.info: NLRP6
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr7:140920902-140929192 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      8291 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 7, 86.14 cM, cytoband F4
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    NLRP6, NLR family pyrin domain containing 6
  • Vertebrate Orthologs
    8
  • Human Ortholog
    NLRP6, NLR family pyrin domain containing 6
    Orthology source: HomoloGene, HGNC
  • Synonyms
    AVR, CLR11.4, NALP6, NAVR, NAVR/AVR, PAN3, PYPAF5
  • Links
    NCBI Gene ID: 171389
    neXtProt AC: NX_P59044
    UniProt: P59044

  • Chr Location
    11p15.5; chr11:278365-285942 (+)  GRCh38.p7

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    33 phenotypes from 3 alleles in 3 genetic backgrounds
    2 images
    28 phenotype references
Phenotype Overview

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

Click cells to view annotations.
Nullizygous mutations lead to altered colonic microbiota, increased susceptibility to induced colitis and/or inflammation-associated colon tumorigenesis. Homozygotes for a null allele show lower blood pressure and sex-specific changes in urine concentrating ability, cognition, and anxiety behavior.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000044619 VEGA Gene Model | MGI Sequence Detail 8291 C57BL/6J ±  kb
    transcript OTTMUST00000117370 VEGA | MGI Sequence Detail 3178 Not Applicable  
    polypeptide OTTMUSP00000065642 VEGA | MGI Sequence Detail 899 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      176 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 7
      cDNA 7

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:2448892
    References
    more
    • Summaries
      All 57
      Developmental Gene Expression 1
      Gene Ontology 9
      Phenotypes 28
    • Earliest
      J:65007 Cattanach BM, et al., Two imprinted gene mutations: three phenotypes. Hum Mol Genet. 2000 Sep 22;9(15):2263-73
    • Latest
      J:260352 Galvez EJC, et al., Shaping of Intestinal Microbiota in Nlrp6- and Rag2-Deficient Mice Depends on Community Structure. Cell Rep. 2017 Dec 26;21(13):3914-3926

    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
    07/31/2018
    MGI 6.12
    The Jackson Laboratory