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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
  • Alliance
    gene page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:140500815-140509105 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 86.14 cM, cytoband F4
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    352 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2141990
 protein coding gene Chr7:140500777-140509105 (+)
129S1/SvImJ MGP_129S1SvImJ_G0033200
 protein coding gene Chr7:146054805-146066659 (+)
A/J MGP_AJ_G0033182
 protein coding gene Chr7:141901266-141913125 (+)
AKR/J MGP_AKRJ_G0033114
 protein coding gene Chr7:145795404-145803694 (+)
BALB/cJ MGP_BALBcJ_G0033183
 protein coding gene Chr7:141632527-141640817 (+)
C3H/HeJ MGP_C3HHeJ_G0032897
 protein coding gene Chr7:145552501-145560791 (+)
C57BL/6NJ MGP_C57BL6NJ_G0033694
 protein coding gene Chr7:151403783-151412073 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0030667
 protein coding gene Chr7:143113745-143121953 (+)
CAST/EiJ MGP_CASTEiJ_G0032227
 protein coding gene Chr7:137850056-137858178 (+)
CBA/J MGP_CBAJ_G0032869
 protein coding gene Chr7:156530690-156538980 (+)
DBA/2J MGP_DBA2J_G0033022
 protein coding gene Chr7:139842565-139850855 (+)
FVB/NJ MGP_FVBNJ_G0032974
 protein coding gene Chr7:139755521-139763811 (+)
LP/J MGP_LPJ_G0033116
 protein coding gene Chr7:147562816-147571106 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0033007
 protein coding gene Chr7:157185466-157203199 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0033714
 protein coding gene Chr7:144776016-144787860 (+)
PWK/PhJ MGP_PWKPhJ_G0031932
 protein coding gene Chr7:133114586-133123015 (+)
SPRET/EiJ MGP_SPRETEiJ_G0031778
 protein coding gene Chr7:131594714-131603297 (+)
WSB/EiJ MGP_WSBEiJ_G0032338
 protein coding gene Chr7:145698552-145707568 (+)



Homology
more
  • Human Ortholog
    NLRP6, NLR family pyrin domain containing 6
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    NLRP6, NLR family pyrin domain containing 6
  • 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; chr11:278407-285388 (+)  GRCh38
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    33 phenotypes from 3 alleles in 3 genetic backgrounds
    2 images
    51 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
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
neoplasm
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
less
  • All GO Annotations
    77
  • GO References
    22
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    711
  • Tissues
    1
  • cDNA Data
    7
  • Literature Summary
    1
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000038745 Ensembl Gene Model | MGI Sequence Detail 8291 C57BL/6J ±  kb
    transcript ENSMUST00000184560 Ensembl | MGI Sequence Detail 3178 Not Applicable  
    polypeptide ENSMUSP00000139170 Ensembl | MGI Sequence Detail 899 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      2 Sequences
    • Protein Ontology
      PR:000011274 NACHT, LRR and PYD domains-containing protein 6
      (term hierarchy)
    • InterPro Domains
      IPR004020 DAPIN domain
      IPR011029 Death-like domain superfamily
      IPR032675 Leucine-rich repeat domain superfamily
      IPR041267 NACHT, LRR and PYD domains-containing protein, helical domain HD2
      IPR007111 NACHT nucleoside triphosphatase
      IPR050637 NLRP family, innate immunity and inflammation regulators
      IPR041075 NOD2, winged helix domain
      IPR027417 P-loop containing nucleoside triphosphate hydrolase
    Molecular
    Reagents
    less
    • All nucleic 7
      cDNA 7

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:2448892
    References
    more
    • Summaries
      All 91
      Developmental Gene Expression 1
      Gene Ontology 22
      Phenotypes 51
    • 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:348229 Nascimento M, et al., NLRP6 controls pulmonary inflammation from cigarette smoke in a gut microbiota-dependent manner. Front Immunol. 2023;14:1224383
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory