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
Disease Acronyms (UniProt) Disease acronyms from UniProt database	IBD19
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(40)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000045	Process	Autophagosome assembly	IMP	16888103
GO:0000139	Component	Golgi membrane	IDA	28389568
GO:0000421	Component	Autophagosome membrane	IEA
GO:0001891	Component	Phagocytic cup	IEA
GO:0001934	Process	Positive regulation of protein phosphorylation	IMP	28389568
GO:0003924	Function	GTPase activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	25891078, 32814053
GO:0005525	Function	GTP binding	IEA
GO:0005739	Component	Mitochondrion	IDA	25891078, 28389568
GO:0005789	Component	Endoplasmic reticulum membrane	IBA	21873635
GO:0005794	Component	Golgi apparatus	IDA	28389568
GO:0005829	Component	Cytosol	IDA	25891078
GO:0006952	Process	Defense response	IBA	21873635
GO:0006954	Process	Inflammatory response	IEA
GO:0010508	Process	Positive regulation of autophagy	IMP	25891078
GO:0010800	Process	Positive regulation of peptidyl-threonine phosphorylation	IMP	25891078
GO:0019901	Function	Protein kinase binding	IPI	25891078
GO:0030670	Component	Phagocytic vesicle membrane	IEA
GO:0031648	Process	Protein destabilization	IMP	25891078
GO:0033138	Process	Positive regulation of peptidyl-serine phosphorylation	IMP	25891078
GO:0035458	Process	Cellular response to interferon-beta	IBA	21873635
GO:0042742	Process	Defense response to bacterium	IMP	16888103
GO:0042995	Component	Cell projection	IEA
GO:0043254	Process	Regulation of protein-containing complex assembly	IMP	25891078
GO:0043539	Function	Protein serine/threonine kinase activator activity	IMP	28389568
GO:0045087	Process	Innate immune response	IMP	16888103
GO:0050700	Function	CARD domain binding	IMP	25891078
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 interferon-gamma-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:0070431	Process	Nucleotide-binding oligomerization domain containing 2 signaling pathway	IMP	25891078
GO:0071222	Process	Cellular response to lipopolysaccharide	IMP	25891078
GO:0071902	Process	Positive regulation of protein serine/threonine kinase activity	IMP	28389568
GO:0075044	Process	Positive regulation by symbiont of host autophagy	IMP	16888103, 28389568
GO:0098586	Process	Cellular response to virus	IMP	28389568
GO:1901098	Process	Positive regulation of autophagosome maturation	IMP	16888103

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 Causal Diseases (3)

Disease term	Disease name	dbSNP ID	References
Causal
Inflammatory bowel disease	Inflammatory Bowel Diseases, Inflammatory Bowel Disease 19	rs137853579, rs137853580, rs121909601, rs149491038, rs368287711, rs387907326, rs587777338, rs758439420, rs1329427406, rs1264862631, rs1192830343, rs1373354533, rs1419560997, rs1591263883, rs1989014468	28067908, 26192919, 23128233
Multiple sclerosis	Multiple Sclerosis	rs104895219, rs483353022, rs483353023, rs483353028, rs483353029, rs483353024, rs483353030, rs3207617, rs483353031, rs483353032, rs483353033, rs483353034, rs483353035, rs483353036, rs483353039 View all (4 more)	22190364
Psoriasis	Psoriasis	rs281875215, rs587777763, rs281875213, rs281875212	26974007

Show/Hide Unknown Diseases (5)

Disease term	Disease name	References	Source
Unknown
Asthma	Asthma	21150878	ClinVar
Crohn disease	Crohn Disease, Regional enteritis, NON RARE IN EUROPE: Crohn disease	17554300, 17554261, 18438406, 18587394, 19165925, 21102463, 26192919, 21278745, 28067908, 26974007	ClinVar
Crohn Disease	Crohn Disease		GWAS
Inflammatory Bowel Disease	Inflammatory Bowel Disease		GWAS
Ulcerative colitis	Ulcerative colitis		GWAS

Show/Hide Text Mining Associations (20)

Disease Name	Relationship Type	References
Associations from Text Mining
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)