Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	345611
Gene name Gene Name - the full gene name approved by the HGNC.	Immunity related GTPase M
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	IRGM
Synonyms (NCBI Gene) Gene synonyms aliases	IBD19, IFI1, IRGM1, LRG-47, LRG47
Chromosome Chromosome number	5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	5q33.1
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a member of the p47 immunity-related GTPase family. The encoded protein may play a role in the innate immune response by regulating autophagy formation in response to intracellular pathogens. Polymorphisms that affect the normal expressi

Show/Hide all(1)

SNP ID	Visualize variation	Clinical significance	Consequence
rs10065172	C>A,T	Pathogenic	Missense variant, synonymous variant, coding sequence variant

Show/Hide all(97)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000045	Process	Autophagosome assembly	IBA
GO:0000045	Process	Autophagosome assembly	IDA	28890335
GO:0000045	Process	Autophagosome assembly	IMP	16888103
GO:0000139	Component	Golgi membrane	IDA	28389568
GO:0000139	Component	Golgi membrane	IEA
GO:0000166	Function	Nucleotide binding	IEA
GO:0000421	Component	Autophagosome membrane	IDA	30612879
GO:0000421	Component	Autophagosome membrane	IEA
GO:0001891	Component	Phagocytic cup	IEA
GO:0001934	Process	Positive regulation of protein phosphorylation	IMP	28389568
GO:0002376	Process	Immune system process	IEA
GO:0003924	Function	GTPase activity	IBA
GO:0003924	Function	GTPase activity	IDA	29420192
GO:0003924	Function	GTPase activity	IEA
GO:0003925	Function	G protein activity	IDA	30612879
GO:0005515	Function	Protein binding	IPI	25891078, 32814053
GO:0005525	Function	GTP binding	IEA
GO:0005739	Component	Mitochondrion	IDA	21102437
GO:0005739	Component	Mitochondrion	IDA	25891078, 28389568
GO:0005739	Component	Mitochondrion	IEA
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005765	Component	Lysosomal membrane	ISS
GO:0005768	Component	Endosome	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005794	Component	Golgi apparatus	IDA	28389568
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	IDA	25891078
GO:0005886	Component	Plasma membrane	IEA
GO:0006914	Process	Autophagy	IDA	25891078
GO:0006914	Process	Autophagy	IEA
GO:0006954	Process	Inflammatory response	IEA
GO:0007040	Process	Lysosome organization	IDA	32753672, 35662396
GO:0010508	Process	Positive regulation of autophagy	IDA	25891078
GO:0010508	Process	Positive regulation of autophagy	IDA	25891078, 29420192
GO:0010508	Process	Positive regulation of autophagy	IMP	16888103, 25891078, 28389568
GO:0010800	Process	Positive regulation of peptidyl-threonine phosphorylation	IMP	25891078
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0019901	Function	Protein kinase binding	IPI	25891078
GO:0030163	Process	Protein catabolic process	IDA	30612879, 32715615, 36221902
GO:0030670	Component	Phagocytic vesicle membrane	IEA
GO:0030674	Function	Protein-macromolecule adaptor activity	IDA	25891078, 29420192, 30612879, 32715615, 32753672, 36221902
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031648	Process	Protein destabilization	IMP	25891078
GO:0031902	Component	Late endosome membrane	IEA
GO:0031966	Component	Mitochondrial membrane	IEA
GO:0031966	Component	Mitochondrial membrane	ISS
GO:0032480	Process	Negative regulation of type I interferon production	IDA	32715615, 34467632
GO:0032689	Process	Negative regulation of type II interferon production	ISS
GO:0033138	Process	Positive regulation of peptidyl-serine phosphorylation	IMP	25891078
GO:0035458	Process	Cellular response to interferon-beta	IBA
GO:0042742	Process	Defense response to bacterium	IDA	25891078
GO:0042742	Process	Defense response to bacterium	IDA	25891078, 32753672, 32939830
GO:0042742	Process	Defense response to bacterium	IMP	16888103, 19165925
GO:0042995	Component	Cell projection	IEA
GO:0043032	Process	Positive regulation of macrophage activation	ISS
GO:0043124	Process	Negative regulation of canonical NF-kappaB signal transduction	IDA	36221902
GO:0043254	Process	Regulation of protein-containing complex assembly	IMP	25891078
GO:0043539	Function	Protein serine/threonine kinase activator activity	IDA	25891078
GO:0043539	Function	Protein serine/threonine kinase activator activity	IMP	28389568
GO:0044546	Process	NLRP3 inflammasome complex assembly	IDA	35114687, 35254907
GO:0045087	Process	Innate immune response	IBA
GO:0045087	Process	Innate immune response	IEA
GO:0045087	Process	Innate immune response	IMP	16888103
GO:0045824	Process	Negative regulation of innate immune response	IDA	35662396
GO:0050687	Process	Negative regulation of defense response to virus	IDA	34467632, 36221902
GO:0050700	Function	CARD domain binding	IMP	25891078
GO:0050728	Process	Negative regulation of inflammatory response	IDA	30612879
GO:0050821	Process	Protein stabilization	IMP	25891078
GO:0050829	Process	Defense response to Gram-negative bacterium	IMP	25891078
GO:0051434	Function	BH3 domain binding	IMP	25891078
GO:0060335	Process	Positive regulation of type II interferon-mediated signaling pathway	IMP	16888103
GO:0061635	Process	Regulation of protein complex stability	IMP	25891078
GO:0061739	Process	Protein lipidation involved in autophagosome assembly	IMP	28389568
GO:0061762	Process	CAMKK-AMPK signaling cascade	IMP	25891078
GO:0065003	Process	Protein-containing complex assembly	IDA	25891078
GO:0065003	Process	Protein-containing complex assembly	IDA	25891078
GO:0070431	Process	Nucleotide-binding oligomerization domain containing 2 signaling pathway	IMP	25891078
GO:0071211	Process	Protein targeting to vacuole involved in autophagy	IDA	36221902
GO:0071211	Process	Protein targeting to vacuole involved in autophagy	IDA	29420192
GO:0071222	Process	Cellular response to lipopolysaccharide	IMP	25891078
GO:0071902	Process	Positive regulation of protein serine/threonine kinase activity	IMP	28389568
GO:0090141	Process	Positive regulation of mitochondrial fission	IDA	21102437
GO:0097352	Process	Autophagosome maturation	ISS
GO:0098586	Process	Cellular response to virus	IMP	28389568
GO:0140367	Process	Antibacterial innate immune response	IDA	32753672, 35662396
GO:0160049	Process	Negative regulation of cGAS/STING signaling pathway	IDA	32715615
GO:1900181	Process	Negative regulation of protein localization to nucleus	IDA	35662396
GO:1900182	Process	Positive regulation of protein localization to nucleus	IDA	25720963, 32753672
GO:1900226	Process	Negative regulation of NLRP3 inflammasome complex assembly	IDA	30612879
GO:1901098	Process	Positive regulation of autophagosome maturation	IMP	16888103
GO:1901526	Process	Positive regulation of mitophagy	IDA	21102437, 32939830
GO:1901612	Function	Cardiolipin binding	IDA	21102437
GO:1904417	Process	Positive regulation of xenophagy	IDA	25891078
GO:1905673	Process	Positive regulation of lysosome organization	IDA	25720963
GO:1905673	Process	Positive regulation of lysosome organization	IDA	32753672

MIM	HGNC	e!Ensembl
608212	29597	ENSG00000237693

Protein

UniProt ID

A1A4Y4

Protein name

Immunity-related GTPase family M protein (EC 3.6.5.-) (Immunity-related GTPase family M protein 1) (Interferon-inducible protein 1) (LPS-stimulated RAW 264.7 macrophage protein 47 homolog) (LRG-47)

Protein function

Immunity-related GTPase that plays important roles in innate immunity and inflammatory response (PubMed:16888103, PubMed:19165925, PubMed:25891078). Acts as a dynamin-like protein that binds to intracellular membranes and promotes remodeling and

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF05049	IIGP	2 → 181	Interferon-inducible GTPase (IIGP)	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed (at protein level) (PubMed:16888103). Expressed in several tissues including colon, small bowel and peripheral blood leukocytes (PubMed:17554261). {ECO:0000269|PubMed:16888103, ECO:0000269|PubMed:17554261}.

Sequence

MEAMNVEKASADGNLPEVISNIKETLKIVSRTPVNITMAGDSGNGMSTFISALRNTGHEG
KASPPTELVKATQRCASYFSSHFSNVVLWDLPGTGSATTTLENYLMEMQFNRYDFIMVAS
AQFSMNHVMLAKTAEDMGKKFYIVWTKLDMDLSTGALPEVQLLQIRENVLENLQKERVCE
Y

Sequence length

181

Interactions

View interactions

	KEGG
	NOD-like receptor signaling pathway Toxoplasmosis

Show/Hide Unknown Diseases (3)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Crohn Disease	Crohn's disease	N/A	N/A	GWAS
Inflammatory Bowel Disease	Inflammatory bowel disease, Inflammatory bowel disease (MTAG)	N/A	N/A	GWAS
Ulcerative colitis	Ulcerative colitis	N/A	N/A	GWAS

Show/Hide Text Mining Associations (20)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Autoimmune Diseases	Associate	29992164
Colitis Ulcerative	Associate	23365659, 25191865
Colonic Diseases	Associate	21830272, 23300620
Crohn Disease	Associate	18438406, 19165925, 20106866, 20117335, 20360734, 21049557, 21079743, 21283700, 21548950, 21830272, 22929019, 23365659, 25191865, 25891078, 26313894 View all (5 more)
Esophageal Squamous Cell Carcinoma	Associate	37705061
Gaucher Disease	Associate	29992164
Glioma	Associate	24859836
Graves Disease	Associate	29992164
Idiopathic Pulmonary Fibrosis	Inhibit	36578501
Infections	Associate	19750224, 23049477, 24859836, 25707354
Inflammation	Associate	23300620, 25707354, 25891078
Inflammatory Bowel Diseases	Associate	21049557, 25191865, 27802154, 27932194
Language Disorders	Associate	24859836
Neoplasms	Associate	24859836, 25707354
Non alcoholic Fatty Liver Disease	Associate	29788077, 30597691
Stomach Neoplasms	Associate	25707354
Thyroiditis Autoimmune	Associate	29992164
Tuberculosis	Associate	19750224, 21283700, 26313894
Tuberculosis Pulmonary	Associate	23049477
Vasculitis	Associate	34961976

IRGM (immunity related GTPase M)