Aim2 MGI Mouse Gene Detail - MGI:2686159

Symbol

Aim2
Name

absent in melanoma 2
Synonyms

Ifi210, LOC383619

Feature Type

protein coding gene
IDs

MGI:2686159
NCBI Gene: 383619
Alliance

gene page
Transcription Start Sites

18 TSS

Sequence Map

Chr1:173178445-173293606 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 1, 80.33 cM
Mapping Data

1 experiment

SNPs within 2kb

2810 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2686159	protein coding gene	Chr1:173177105-173293606 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0016809	protein coding gene	Chr1:179281358-179395907 (+)
A/J	MGP_AJ_G0016786	protein coding gene	Chr1:171932250-172046877 (+)
AKR/J	MGP_AKRJ_G0016752	protein coding gene	Chr1:177157548-177300165 (+)
BALB/cJ	MGP_BALBcJ_G0016746	protein coding gene	Chr1:172474547-172616610 (+)
C3H/HeJ	MGP_C3HHeJ_G0016571	protein coding gene	Chr1:177761005-177808688 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0017209	protein coding gene	Chr1:185258101-185386443 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0014915	protein coding gene	Chr1:163559434-163911161 (+)
CAST/EiJ	MGP_CASTEiJ_G0016151	protein coding gene	Chr1:177082627-177204880 (+)
CBA/J	MGP_CBAJ_G0016545	protein coding gene	Chr1:191865919-191987119 (+)
DBA/2J	MGP_DBA2J_G0016652	protein coding gene	Chr1:170893053-171029828 (+)
FVB/NJ	MGP_FVBNJ_G0016649	protein coding gene	Chr1:169105366-169223225 (+)
LP/J	MGP_LPJ_G0016723	protein coding gene	Chr1:180355254-180477955 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0016675	protein coding gene	Chr1:199079568-199199890 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0017245	protein coding gene	Chr1:177049935-177175462 (+)
PWK/PhJ	MGP_PWKPhJ_G0015938	protein coding gene	Chr1:170254566-170370772 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0015720	protein coding gene	Chr1:175983643-176104394 (+)
WSB/EiJ	MGP_WSBEiJ_G0016215	protein coding gene	Chr1:177147558-177263824 (+)

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

HGNC:357

NCBI Gene ID: 9447

neXtProt AC: NX_O14862

UniProt: O14862
Chr Location

1q23.1-q23.2; chr1:159055051-159187843 (-) GRCh38

MGI Vertebrate Homology

Aim2 stringent orthology
1 human;1 mouse;1 rat
HCOP

vertebrate homology predictions: AIM2
Gene Tree

Aim2

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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

20
Chemically induced (other)

2
Endonuclease-mediated

8
Gene trapped

2
Targeted

8
Genomic Mutations

3 involving Aim2
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

35 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

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

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All GO Annotations

67
GO References

23

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.

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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

706
cDNA Data

10

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

GEO

Expression Atlas

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All Sequences

104
RefSeq

64
UniProt

4
CCDS

CCDS15529.2

Ensembl

ENSMUSG00000037860 (Evidence)
NCBI Gene

383619

			Length	Strain/Species	Flank
genomic	ENSMUSG00000037860	Ensembl Gene Model \| MGI Sequence Detail	115162	C57BL/6J	± kb
transcript	ENSMUST00000166137	Ensembl \| MGI Sequence Detail	2079	Not Applicable
polypeptide	ENSMUSP00000132253	Ensembl \| MGI Sequence Detail	354	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000003874 interferon-inducible protein AIM2

(term hierarchy)
PDB

2N00, 4JBM
InterPro Domains

IPR004020 DAPIN domain

IPR011029 Death-like domain superfamily

IPR040205 HIN-200 family

IPR004021 HIN-200/IF120x

IPR012340 Nucleic acid-binding, OB-fold

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All nucleic 10

cDNA 10

Microarray probesets 1

Summaries

All 178

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

TSS for Aim2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr10259	Chr1:173177695-173177703 (+)	-746 bp
Tssr10260	Chr1:173177717-173177743 (+)	-715 bp
Tssr10261	Chr1:173177745-173177772 (+)	-686 bp
Tssr10262	Chr1:173246740-173246779 (+)	68,315 bp
Tssr10263	Chr1:173246786-173246797 (+)	68,347 bp
Tssr10264	Chr1:173246826-173246854 (+)	68,395 bp
Tssr10265	Chr1:173246859-173246910 (+)	68,440 bp
Tssr10266	Chr1:173246913-173246941 (+)	68,482 bp
Tssr10267	Chr1:173246950-173246964 (+)	68,512 bp
Tssr10268	Chr1:173246985-173246992 (+)	68,544 bp
Tssr10269	Chr1:173248122-173248130 (+)	69,681 bp
Tssr10270	Chr1:173248133-173248188 (+)	69,716 bp
Tssr10271	Chr1:173248194-173248205 (+)	69,755 bp
Tssr10272	Chr1:173255175-173255179 (+)	76,732 bp
Tssr10273	Chr1:173263580-173263589 (+)	85,140 bp
Tssr10274	Chr1:173263667-173263682 (+)	85,230 bp
Tssr10275	Chr1:173268284-173268295 (+)	89,845 bp
Tssr10276	Chr1:173272129-173272165 (+)	93,702 bp

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 Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/19/2024 MGI 6.24