Aim2 MGI Mouse Gene Detail - MGI:2686159 (original) (raw)

Summary

Symbol
Aim2
Name
absent in melanoma 2
Synonyms
Ifi210, LOC383619
Feature Type
protein coding gene
IDs
MGI:2686159
NCBI Gene:383619
Alliance
Transcription Start Sites
18 TSS

Location &
Maps

Sequence Map
Chr1:173178445-173293606 bp, + strand
From Ensembl annotation of GRCm39
Genome Browsers
Genetic Map
Chromosome 1, 80.33 cM
Mapping Data
1 experiment

Strain
Comparison

SNPs within 2kb
2810 from dbSNP Build 142
Strain Annotations
18

Homology

Human Ortholog
AIM2, absent in melanoma 2
Vertebrate Orthologs
2

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog
AIM2, absent in melanoma 2
Synonyms
PYHIN4
Links
Chr Location
1q23.1-q23.2; chr1:159055051-159187843 (-) GRCh38

MGI Vertebrate Homology
HCOP
vertebrate homology predictions:AIM2
Gene Tree

Mutations,
Alleles, and
Phenotypes

less

Phenotype Summary
24 phenotypes from 4 alleles in 6 genetic backgrounds
7 phenotypes from multigenic genotypes
130 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

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.

All Mutations and Alleles
Chemically induced (other)
Endonuclease-mediated
Gene trapped
Targeted
Genomic Mutations
3 involving Aim2
Incidental Mutations
Find Mice (IMSR)
Comparison Matrix

Mice homozygous for a gene trapped allele exhibit increased susceptibility to bacterial and viral infections with altered cytokine production and inflammatory cell death (pyrotosis).

Gene Ontology
(GO)
Classifications

less

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 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

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

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
cDNA Data
Other Mouse Links

Sequences &
Gene Models

less

All Sequences
RefSeq
UniProt
CCDS
Ensembl
NCBI Gene

Protein
Information

less

UniProt
4 Sequences
Protein Ontology
PDB
InterPro Domains
IPR011029 Death-like domain superfamily
IPR012340 Nucleic acid-binding, OB-fold

Molecular
Reagents

less

All nucleic 10
Microarray probesets 1

References

Summaries
Gene Ontology 23
Phenotypes 130
Earliest
J:85162 Hansen J, et al., A large-scale, gene-driven mutagenesis approach for the functional analysis of the mouse genome. Proc Natl Acad Sci U S A. 2003 Aug 19;100(17):9918-22
Latest
J:354143 Moran EA, et al., IFI207, a young and fast-evolving protein, controls retroviral replication via the STING pathway. mBio. 2024 Jul 17;15(7):e0120924