IRGM (immunity related GTPase M) - Rat Genome Database

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Gene: IRGM (immunity related GTPase M) Homo sapiens
Analyze
Symbol: IRGM
Name: immunity related GTPase M
RGD ID: 1601797
HGNC Page HGNC:29597
Description: Enables several functions, including G protein activity; cardiolipin binding activity; and protein domain specific binding activity. Involved in several processes, including positive regulation of organelle organization; positive regulation of protein phosphorylation; and regulation of defense response. Located in Golgi membrane and cytosol. Is active in autophagosome membrane and mitochondrion. Implicated in inflammatory bowel disease 19 and tuberculosis.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: IBD19; IFI1; immunity-related GTPase family M protein; immunity-related GTPase family M protein 1; immunity-related GTPase family, M; immunity-related GTPase family, M1; immunity-related GTPase M; interferon-inducible protein 1; IRGM1; LPS-stimulated RAW 264.7 macrophage protein 47 homolog; LRG-47; LRG-47-like protein; LRG47; MGC149263; MGC149264
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385150,846,521 - 150,902,402 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5150,846,521 - 150,900,736 (+)EnsemblGRCh38hg38GRCh38
GRCh375150,226,083 - 150,281,964 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 365150,207,879 - 150,208,424 (+)NCBINCBI36Build 36hg18NCBI36
Celera5146,307,411 - 146,309,557 (+)NCBICelera
Cytogenetic Map5q33.1NCBI
HuRef5145,371,946 - 145,374,092 (+)NCBIHuRef
CHM1_15149,658,892 - 149,661,038 (+)NCBICHM1_1
T2T-CHM13v2.05151,383,019 - 151,438,900 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(-)-alpha-phellandrene  (EXP)
1,2-dimethylhydrazine  (ISO)
15-acetyldeoxynivalenol  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
17beta-estradiol 3-benzoate  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
3,3',5,5'-tetrabromobisphenol A  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-(ethoxymethylene)-2-phenyloxazol-5-one  (ISO)
4-amino-2,6-dinitrotoluene  (ISO)
4-hydroxynon-2-enal  (ISO)
4-hydroxyphenyl retinamide  (ISO)
4-nitrophenol  (ISO)
5-fluorouracil  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acrylamide  (ISO)
aflatoxin B1  (ISO)
aldehydo-D-glucose  (ISO)
alpha-phellandrene  (EXP)
Aroclor 1254  (ISO)
Benoxacor  (ISO)
benzo[a]pyrene  (EXP,ISO)
beta-naphthoflavone  (ISO)
bisphenol A  (ISO)
bisphenol F  (ISO)
buspirone  (ISO)
butanal  (EXP)
cadmium atom  (ISO)
cadmium dichloride  (ISO)
carbon nanotube  (ISO)
chloroprene  (ISO)
ciguatoxin CTX1B  (ISO)
Cuprizon  (ISO)
cyclosporin A  (ISO)
D-glucose  (ISO)
dexamethasone  (ISO)
diclofenac  (ISO)
dieldrin  (ISO)
diethyl maleate  (ISO)
dimethyl sulfoxide  (EXP)
dioxygen  (ISO)
endosulfan  (ISO)
fluoranthene  (ISO)
flusilazole  (ISO)
flutamide  (ISO)
folic acid  (ISO)
fructose  (ISO)
gentamycin  (ISO)
ginsenoside Re  (EXP)
glucose  (ISO)
glyphosate  (EXP,ISO)
hexaconazole  (ISO)
indole-3-methanol  (ISO)
lipopolysaccharide  (ISO)
metam  (ISO)
nefazodone  (ISO)
nevirapine  (ISO)
oxaliplatin  (ISO)
ozone  (ISO)
p-toluidine  (ISO)
paracetamol  (ISO)
pentachlorophenol  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenobarbital  (ISO)
pirinixic acid  (ISO)
potassium dichromate  (ISO)
propanal  (EXP)
propiconazole  (ISO)
resveratrol  (ISO)
SB 203580  (ISO)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenite  (ISO)
Soman  (ISO)
succimer  (ISO)
tamoxifen  (ISO)
tert-butyl hydroperoxide  (ISO)
testosterone  (ISO)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
triadimefon  (ISO)
trichostatin A  (EXP)
trimellitic anhydride  (ISO)
Triptolide  (ISO)
trovafloxacin  (ISO)
tungsten  (ISO)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
autophagosome assembly  (IMP)
autophagosome maturation  (ISS)
autophagy  (IEA)
CAMKK-AMPK signaling cascade  (IMP)
cellular response to interferon-beta  (IBA,IEA)
cellular response to lipopolysaccharide  (IMP)
cellular response to type II interferon  (ISO)
defense response  (IBA,IEA,ISO)
defense response to bacterium  (IDA,IMP)
defense response to Gram-negative bacterium  (IMP)
defense response to other organism  (IEA)
immune system process  (IEA)
inflammatory response  (IEA)
innate immune response  (IEA,IMP)
negative regulation of canonical NF-kappaB signal transduction  (IDA)
negative regulation of cGAS/STING signaling pathway  (IDA)
negative regulation of defense response to virus  (IDA)
negative regulation of hematopoietic stem cell proliferation  (ISO)
negative regulation of inflammatory response  (IDA)
negative regulation of NLRP3 inflammasome complex assembly  (IDA)
negative regulation of type I interferon production  (IDA)
negative regulation of type II interferon production  (ISS)
nucleotide-binding oligomerization domain containing 2 signaling pathway  (IMP)
positive regulation of autophagosome maturation  (IMP)
positive regulation of autophagy  (IDA,IMP)
positive regulation of CD4-positive, alpha-beta T cell proliferation  (ISO)
positive regulation of lysosome organization  (IDA)
positive regulation of macrophage activation  (ISS)
positive regulation of mitochondrial fission  (IDA)
positive regulation of mitophagy  (IDA)
positive regulation of peptidyl-serine phosphorylation  (IMP)
positive regulation of peptidyl-threonine phosphorylation  (IMP)
positive regulation of protein phosphorylation  (IMP)
positive regulation of type II interferon-mediated signaling pathway  (IMP)
positive regulation of xenophagy  (IDA)
protein destabilization  (IMP)
protein stabilization  (IMP)
protein targeting to vacuole involved in autophagy  (IDA)
protein-containing complex assembly  (IDA)
regulation of mitochondrial fission  (ISO)
regulation of protein complex stability  (IMP)
regulation of protein-containing complex assembly  (IMP)
response to bacterium  (ISO)

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:7561525   PMID:12477932   PMID:14576437   PMID:16277747   PMID:16888103   PMID:17554261   PMID:17554300   PMID:17921695   PMID:18438406   PMID:18580884   PMID:18587394   PMID:18936107  
PMID:18985712   PMID:19098858   PMID:19120485   PMID:19165925   PMID:19174780   PMID:19266026   PMID:19422935   PMID:19491842   PMID:19683022   PMID:19750224   PMID:19760754   PMID:20024904  
PMID:20106866   PMID:20210993   PMID:20360734   PMID:20395867   PMID:20547146   PMID:20737271   PMID:20886065   PMID:20962850   PMID:21049557   PMID:21072187   PMID:21079743   PMID:21102437  
PMID:21102463   PMID:21283700   PMID:21508684   PMID:21873635   PMID:21981022   PMID:22163006   PMID:22174682   PMID:22228152   PMID:22370477   PMID:22508677   PMID:22573572   PMID:22713085  
PMID:23049477   PMID:23128233   PMID:23365659   PMID:24232856   PMID:24264476   PMID:24469081   PMID:24595493   PMID:24626347   PMID:24656308   PMID:24713404   PMID:24859836   PMID:25191865  
PMID:25526194   PMID:25619828   PMID:25707354   PMID:25853521   PMID:25891078   PMID:25944217   PMID:26066377   PMID:26786655   PMID:26980495   PMID:27439214   PMID:27932194   PMID:28031552  
PMID:28389568   PMID:28983640   PMID:29068986   PMID:29126912   PMID:29420192   PMID:29788077   PMID:29960072   PMID:29992164   PMID:30021884   PMID:30288851   PMID:30335469   PMID:30597691  
PMID:30612879   PMID:31654602   PMID:32045400   PMID:32715615   PMID:32753672   PMID:32814053   PMID:32939830   PMID:33639564   PMID:33961781   PMID:34467632   PMID:34646375   PMID:35661332  
PMID:35939988   PMID:36221902   PMID:36580725   PMID:36629440   PMID:36999177   PMID:37558924   PMID:37705061   PMID:37993085  


Genomics

Comparative Map Data
IRGM
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385150,846,521 - 150,902,402 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5150,846,521 - 150,900,736 (+)EnsemblGRCh38hg38GRCh38
GRCh375150,226,083 - 150,281,964 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 365150,207,879 - 150,208,424 (+)NCBINCBI36Build 36hg18NCBI36
Celera5146,307,411 - 146,309,557 (+)NCBICelera
Cytogenetic Map5q33.1NCBI
HuRef5145,371,946 - 145,374,092 (+)NCBIHuRef
CHM1_15149,658,892 - 149,661,038 (+)NCBICHM1_1
T2T-CHM13v2.05151,383,019 - 151,438,900 (+)NCBIT2T-CHM13v2.0
Irgm1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391148,756,072 - 48,762,247 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1148,752,795 - 48,762,510 (-)EnsemblGRCm39 Ensembl
GRCm381148,865,245 - 48,871,420 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1148,861,968 - 48,871,683 (-)EnsemblGRCm38mm10GRCm38
MGSCv371148,678,751 - 48,684,848 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361148,708,672 - 48,714,769 (-)NCBIMGSCv36mm8
Celera1153,447,611 - 53,453,702 (-)NCBICelera
Cytogenetic Map11B1.2NCBI
cM Map1128.84NCBI
Irgm
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81033,734,640 - 33,742,720 (-)NCBIGRCr8
mRatBN7.21033,233,513 - 33,241,594 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1033,233,455 - 33,241,578 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1037,913,410 - 37,921,342 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0106,451,824 - 6,459,756 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01032,907,048 - 32,914,980 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01034,213,885 - 34,221,968 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1034,213,936 - 34,221,928 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01033,997,565 - 34,005,641 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41034,132,512 - 34,140,450 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11034,133,560 - 34,141,499 (-)NCBI
Celera1032,619,552 - 32,627,490 (-)NCBICelera
Cytogenetic Map10q21NCBI
Irgm
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554082,338,510 - 2,344,566 (+)NCBIChiLan1.0ChiLan1.0
IRGM
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v24146,078,470 - 146,134,350 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan15144,218,016 - 144,273,896 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v05146,274,097 - 146,329,979 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.15152,276,981 - 152,332,575 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl5152,278,581 - 152,308,182 (+)Ensemblpanpan1.1panPan2
LOC481473
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.111793,416 - 795,373 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl11793,424 - 794,617 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha11836,686 - 855,339 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.011738,690 - 757,342 (+)NCBIROS_Cfam_1.0
UMICH_Zoey_3.111698,402 - 717,053 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.011796,411 - 815,062 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0111,021,089 - 1,039,741 (+)NCBIUU_Cfam_GSD_1.0
LOC101972667
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213142,480,944 - 142,493,084 (-)NCBIHiC_Itri_2
SpeTri2.0NW_0049365044,055,091 - 4,056,089 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
IRGM
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12353,449,576 - 53,451,373 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366603424,239,475 - 24,271,349 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Irgm
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473341,241,488 - 41,248,162 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in IRGM
44 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001145805.2(IRGM):c.313C>T (p.Leu105=) single nucleotide variant Inflammatory bowel disease 19 [RCV000023694]|not specified [RCV001777145] Chr5:150848436 [GRCh38]
Chr5:150227998 [GRCh37]
Chr5:5q33.1
pathogenic|risk factor|benign
GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3 copy number gain See cases [RCV000051193] Chr5:130860928..155321811 [GRCh38]
Chr5:130196621..154701371 [GRCh37]
Chr5:130224520..154681564 [NCBI36]
Chr5:5q23.3-33.2
pathogenic
GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3 copy number gain See cases [RCV000051863] Chr5:149714592..181272151 [GRCh38]
Chr5:149094155..180699152 [GRCh37]
Chr5:149074348..180631758 [NCBI36]
Chr5:5q32-35.3
pathogenic
GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1 copy number loss See cases [RCV000053524] Chr5:106619588..156124387 [GRCh38]
Chr5:105955289..155551397 [GRCh37]
Chr5:105983188..155483975 [NCBI36]
Chr5:5q21.3-33.2
pathogenic
NM_052860.4(ZNF300):c.1160G>A (p.Gly387Glu) single nucleotide variant Inborn genetic diseases [RCV003194404] Chr5:150896079 [GRCh38]
Chr5:150275641 [GRCh37]
Chr5:5q33.1
uncertain significance
NM_052860.4(ZNF300):c.899G>A (p.Gly300Asp) single nucleotide variant Inborn genetic diseases [RCV003208379] Chr5:150896340 [GRCh38]
Chr5:150275902 [GRCh37]
Chr5:5q33.1
uncertain significance
GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3 copy number gain See cases [RCV000138808] Chr5:129847794..153353546 [GRCh38]
Chr5:129183487..152733106 [GRCh37]
Chr5:129211386..152713299 [NCBI36]
Chr5:5q23.3-33.2
pathogenic
GRCh38/hg38 5q33.1(chr5:150806692-150930666)x1 copy number loss See cases [RCV000140327] Chr5:150806692..150930666 [GRCh38]
Chr5:150186254..150310228 [GRCh37]
Chr5:150166447..150290421 [NCBI36]
Chr5:5q33.1
likely benign
NM_001172831.1(ZNF300):c.95A>G (p.Asp32Gly) single nucleotide variant Malignant melanoma [RCV000061179] Chr5:150898523 [GRCh38]
Chr5:150278085 [GRCh37]
Chr5:150258278 [NCBI36]
Chr5:5q33.1
not provided
GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3 copy number gain not provided [RCV000487658] Chr5:94844077..178830410 [GRCh37]
Chr5:5q15-35.3
likely benign
NM_052860.4(ZNF300):c.299G>A (p.Cys100Tyr) single nucleotide variant Inborn genetic diseases [RCV003186031] Chr5:150896940 [GRCh38]
Chr5:150276502 [GRCh37]
Chr5:5q33.1
uncertain significance
GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910)x3 copy number gain See cases [RCV000449349] Chr5:130125085..157574910 [GRCh37]
Chr5:5q23.3-33.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3 copy number gain See cases [RCV000448245] Chr5:106716357..180687338 [GRCh37]
Chr5:5q21.3-35.3
pathogenic
NC_000005.9:g.(?_86400000)_(154000000_?)del deletion Familial adenomatous polyposis 1 [RCV002231249]|Hereditary cancer-predisposing syndrome [RCV000554476] Chr5:86400000..154000000 [GRCh37]
Chr5:5q14.3-33.2
pathogenic
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
NM_001145805.2(IRGM):c.394A>G (p.Lys132Glu) single nucleotide variant Inborn genetic diseases [RCV003240949] Chr5:150848517 [GRCh38]
Chr5:150228079 [GRCh37]
Chr5:5q33.1
uncertain significance
NM_001145805.2(IRGM):c.388C>T (p.Leu130Phe) single nucleotide variant Inborn genetic diseases [RCV003260935] Chr5:150848511 [GRCh38]
Chr5:150228073 [GRCh37]
Chr5:5q33.1
uncertain significance
NM_052860.4(ZNF300):c.925A>C (p.Lys309Gln) single nucleotide variant Inborn genetic diseases [RCV003290356] Chr5:150896314 [GRCh38]
Chr5:150275876 [GRCh37]
Chr5:5q33.1
uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5q33.1(chr5:150177887-150226842)x1 copy number loss not provided [RCV000745255] Chr5:150177887..150226842 [GRCh37]
Chr5:5q33.1
benign
GRCh37/hg19 5q33.1(chr5:150186254-150356223)x1 copy number loss not provided [RCV000762709] Chr5:150186254..150356223 [GRCh37]
Chr5:5q33.1
likely benign
NM_052860.4(ZNF300):c.690T>C (p.Asn230=) single nucleotide variant not provided [RCV000969502] Chr5:150896549 [GRCh38]
Chr5:150276111 [GRCh37]
Chr5:5q33.1
benign
NM_052860.4(ZNF300):c.513T>G (p.Phe171Leu) single nucleotide variant not provided [RCV000950694] Chr5:150896726 [GRCh38]
Chr5:150276288 [GRCh37]
Chr5:5q33.1
benign
NM_052860.4(ZNF300):c.649G>A (p.Gly217Arg) single nucleotide variant not provided [RCV000950693] Chr5:150896590 [GRCh38]
Chr5:150276152 [GRCh37]
Chr5:5q33.1
benign
GRCh37/hg19 5q33.1(chr5:150155711-150316261)x1 copy number loss not provided [RCV000847388] Chr5:150155711..150316261 [GRCh37]
Chr5:5q33.1
uncertain significance
NM_052860.4(ZNF300):c.1058A>G (p.Tyr353Cys) single nucleotide variant Inborn genetic diseases [RCV003294939] Chr5:150896181 [GRCh38]
Chr5:150275743 [GRCh37]
Chr5:5q33.1
uncertain significance
NM_052860.4(ZNF300):c.640C>G (p.Gln214Glu) single nucleotide variant Inborn genetic diseases [RCV003268105] Chr5:150896599 [GRCh38]
Chr5:150276161 [GRCh37]
Chr5:5q33.1
likely benign
NM_052860.4(ZNF300):c.1074C>T (p.Cys358=) single nucleotide variant not provided [RCV000956329] Chr5:150896165 [GRCh38]
Chr5:150275727 [GRCh37]
Chr5:5q33.1
benign
GRCh37/hg19 5q32-35.3(chr5:149010383-180719789) copy number gain Hunter-McAlpine craniosynostosis [RCV002280612] Chr5:149010383..180719789 [GRCh37]
Chr5:5q32-35.3
pathogenic
NM_001145805.2(IRGM):c.397A>G (p.Thr133Ala) single nucleotide variant not provided [RCV001358535] Chr5:150848520 [GRCh38]
Chr5:150228082 [GRCh37]
Chr5:5q33.1
uncertain significance
GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910) copy number gain not specified [RCV002053526] Chr5:130125085..157574910 [GRCh37]
Chr5:5q23.3-33.3
pathogenic
NM_052860.4(ZNF300):c.829G>A (p.Ala277Thr) single nucleotide variant Inborn genetic diseases [RCV003306896] Chr5:150896410 [GRCh38]
Chr5:150275972 [GRCh37]
Chr5:5q33.1
uncertain significance
NM_052860.4(ZNF300):c.602C>T (p.Pro201Leu) single nucleotide variant Inborn genetic diseases [RCV002751724] Chr5:150896637 [GRCh38]
Chr5:150276199 [GRCh37]
Chr5:5q33.1
uncertain significance
NM_052860.4(ZNF300):c.1622G>A (p.Arg541Gln) single nucleotide variant Inborn genetic diseases [RCV002882833] Chr5:150895617 [GRCh38]
Chr5:150275179 [GRCh37]
Chr5:5q33.1
uncertain significance
NM_001145805.2(IRGM):c.13A>C (p.Asn5His) single nucleotide variant Inborn genetic diseases [RCV002973547] Chr5:150848136 [GRCh38]
Chr5:150227698 [GRCh37]
Chr5:5q33.1
uncertain significance
NM_052860.4(ZNF300):c.712G>A (p.Val238Ile) single nucleotide variant Inborn genetic diseases [RCV002901428] Chr5:150896527 [GRCh38]
Chr5:150276089 [GRCh37]
Chr5:5q33.1
uncertain significance
NM_001145805.2(IRGM):c.530G>A (p.Arg177Gln) single nucleotide variant Inborn genetic diseases [RCV002816933] Chr5:150848653 [GRCh38]
Chr5:150228215 [GRCh37]
Chr5:5q33.1
likely benign
NM_001145805.2(IRGM):c.233A>G (p.Tyr78Cys) single nucleotide variant Inborn genetic diseases [RCV002703616] Chr5:150848356 [GRCh38]
Chr5:150227918 [GRCh37]
Chr5:5q33.1
uncertain significance
NM_052860.4(ZNF300):c.1657G>A (p.Glu553Lys) single nucleotide variant Inborn genetic diseases [RCV002821273] Chr5:150895582 [GRCh38]
Chr5:150275144 [GRCh37]
Chr5:5q33.1
uncertain significance
NM_052860.4(ZNF300):c.76G>C (p.Asp26His) single nucleotide variant Inborn genetic diseases [RCV002798459] Chr5:150898494 [GRCh38]
Chr5:150278056 [GRCh37]
Chr5:5q33.1
uncertain significance
NM_052860.4(ZNF300):c.1075G>A (p.Gly359Arg) single nucleotide variant Inborn genetic diseases [RCV002798556] Chr5:150896164 [GRCh38]
Chr5:150275726 [GRCh37]
Chr5:5q33.1
uncertain significance
NM_001145805.2(IRGM):c.112A>G (p.Met38Val) single nucleotide variant Inborn genetic diseases [RCV002826617] Chr5:150848235 [GRCh38]
Chr5:150227797 [GRCh37]
Chr5:5q33.1
likely benign
NM_052860.4(ZNF300):c.519G>C (p.Glu173Asp) single nucleotide variant Inborn genetic diseases [RCV002762958] Chr5:150896720 [GRCh38]
Chr5:150276282 [GRCh37]
Chr5:5q33.1
uncertain significance
NM_001145805.2(IRGM):c.299C>T (p.Thr100Ile) single nucleotide variant Inborn genetic diseases [RCV002955963] Chr5:150848422 [GRCh38]
Chr5:150227984 [GRCh37]
Chr5:5q33.1
uncertain significance
NM_052860.4(ZNF300):c.1273A>G (p.Ile425Val) single nucleotide variant Inborn genetic diseases [RCV002768271] Chr5:150895966 [GRCh38]
Chr5:150275528 [GRCh37]
Chr5:5q33.1
uncertain significance
NM_001145805.2(IRGM):c.379C>T (p.His127Tyr) single nucleotide variant Inborn genetic diseases [RCV002850544] Chr5:150848502 [GRCh38]
Chr5:150228064 [GRCh37]
Chr5:5q33.1
uncertain significance
NM_052860.4(ZNF300):c.1547C>T (p.Thr516Ile) single nucleotide variant Inborn genetic diseases [RCV002767737] Chr5:150895692 [GRCh38]
Chr5:150275254 [GRCh37]
Chr5:5q33.1
uncertain significance
NM_001145805.2(IRGM):c.84A>G (p.Ile28Met) single nucleotide variant Inborn genetic diseases [RCV002675098] Chr5:150848207 [GRCh38]
Chr5:150227769 [GRCh37]
Chr5:5q33.1
uncertain significance
NM_052860.4(ZNF300):c.1575A>C (p.Glu525Asp) single nucleotide variant Inborn genetic diseases [RCV002832182] Chr5:150895664 [GRCh38]
Chr5:150275226 [GRCh37]
Chr5:5q33.1
uncertain significance
NM_001145805.2(IRGM):c.274C>T (p.Pro92Ser) single nucleotide variant Inborn genetic diseases [RCV002672483] Chr5:150848397 [GRCh38]
Chr5:150227959 [GRCh37]
Chr5:5q33.1
uncertain significance
NM_001145805.2(IRGM):c.334C>T (p.Arg112Trp) single nucleotide variant Inborn genetic diseases [RCV002989382] Chr5:150848457 [GRCh38]
Chr5:150228019 [GRCh37]
Chr5:5q33.1
uncertain significance
NM_052860.4(ZNF300):c.947A>G (p.Gln316Arg) single nucleotide variant Inborn genetic diseases [RCV002896211] Chr5:150896292 [GRCh38]
Chr5:150275854 [GRCh37]
Chr5:5q33.1
uncertain significance
NM_001145805.2(IRGM):c.275C>T (p.Pro92Leu) single nucleotide variant Inborn genetic diseases [RCV003204021] Chr5:150848398 [GRCh38]
Chr5:150227960 [GRCh37]
Chr5:5q33.1
uncertain significance
NM_052860.4(ZNF300):c.1367A>T (p.Gln456Leu) single nucleotide variant Inborn genetic diseases [RCV003194881] Chr5:150895872 [GRCh38]
Chr5:150275434 [GRCh37]
Chr5:5q33.1
uncertain significance
NM_001145805.2(IRGM):c.152G>A (p.Ser51Asn) single nucleotide variant Inborn genetic diseases [RCV003189111] Chr5:150848275 [GRCh38]
Chr5:150227837 [GRCh37]
Chr5:5q33.1
uncertain significance
NM_001145805.2(IRGM):c.464G>A (p.Gly155Asp) single nucleotide variant Inborn genetic diseases [RCV003203370] Chr5:150848587 [GRCh38]
Chr5:150228149 [GRCh37]
Chr5:5q33.1
uncertain significance
NM_001145805.2(IRGM):c.285G>A (p.Gly95=) single nucleotide variant not provided [RCV003429908] Chr5:150848408 [GRCh38]
Chr5:150227970 [GRCh37]
Chr5:5q33.1
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:522
Count of miRNA genes:426
Interacting mature miRNAs:459
Transcripts:ENST00000520549, ENST00000522154, ENST00000609660
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
LRG47__6422  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375150,227,749 - 150,228,339UniSTSGRCh37
Build 365150,207,942 - 150,208,532RGDNCBI36
Celera5146,309,075 - 146,309,665RGD
HuRef5145,373,610 - 145,374,200UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 2 1 1
Low 124 113 34 9 550 9 78 19 30 38 319 125 3 87 22 1
Below cutoff 1973 2350 1258 391 1221 254 3351 1512 2436 263 974 1318 145 1092 2076 1

Sequence


RefSeq Acc Id: ENST00000520549   ⟹   ENSP00000429819
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5150,848,497 - 150,900,736 (+)Ensembl
RefSeq Acc Id: ENST00000522154   ⟹   ENSP00000428220
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5150,846,521 - 150,848,702 (+)Ensembl
RefSeq Acc Id: ENST00000609660
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5150,846,803 - 150,847,487 (+)Ensembl
RefSeq Acc Id: NM_001145805   ⟹   NP_001139277
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385150,846,521 - 150,848,702 (+)NCBI
GRCh375150,226,085 - 150,228,231 (+)ENTREZGENE
HuRef5145,371,946 - 145,374,092 (+)ENTREZGENE
CHM1_15149,658,892 - 149,661,038 (+)NCBI
T2T-CHM13v2.05151,383,019 - 151,385,200 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001346557   ⟹   NP_001333486
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385150,846,521 - 150,902,402 (+)NCBI
T2T-CHM13v2.05151,383,019 - 151,438,900 (+)NCBI
Sequence:
RefSeq Acc Id: NR_170598
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385150,846,521 - 150,900,736 (+)NCBI
T2T-CHM13v2.05151,383,019 - 151,437,234 (+)NCBI
Sequence:
RefSeq Acc Id: NP_001139277   ⟸   NM_001145805
- Peptide Label: isoform 2
- UniProtKB: B3VEX0 (UniProtKB/Swiss-Prot),   H0YBM2 (UniProtKB/Swiss-Prot),   A1A4Y4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001333486   ⟸   NM_001346557
- Peptide Label: isoform 1
- Sequence:
RefSeq Acc Id: ENSP00000429819   ⟸   ENST00000520549
RefSeq Acc Id: ENSP00000428220   ⟸   ENST00000522154
Protein Domains
IRG-type G

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-A1A4Y4-F1-model_v2 AlphaFold A1A4Y4 1-181 view protein structure

Promoters
RGD ID:6803279
Promoter ID:HG_KWN:51545
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   NB4
Transcripts:NM_001145805
Position:
Human AssemblyChrPosition (strand)Source
Build 365150,206,326 - 150,206,897 (+)MPROMDB
RGD ID:6871292
Promoter ID:EPDNEW_H8811
Type:multiple initiation site
Name:IRGM_1
Description:immunity related GTPase M
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385150,846,521 - 150,846,581EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29597 AgrOrtholog
COSMIC IRGM COSMIC
Ensembl Genes ENSG00000237693 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000520549.1 UniProtKB/TrEMBL
  ENST00000522154 ENTREZGENE
  ENST00000522154.2 UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.50.300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000237693 GTEx
HGNC ID HGNC:29597 ENTREZGENE
Human Proteome Map IRGM Human Proteome Map
InterPro G_IRG_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Immunity-related_GTPase-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:345611 UniProtKB/Swiss-Prot
NCBI Gene 345611 ENTREZGENE
OMIM 608212 OMIM
PANTHER IMMUNITY-RELATED GTPASE FAMILY M PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  INTERFERON-INDUCIBLE GTPASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam IIGP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142671652 PharmGKB
PROSITE G_IRG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A9H4B933_HUMAN UniProtKB/TrEMBL
  A1A4Y4 ENTREZGENE
  B3VEX0 ENTREZGENE
  D9N2U4_HUMAN UniProtKB/TrEMBL
  H0YBM2 ENTREZGENE
  IRGM_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B3VEX0 UniProtKB/Swiss-Prot
  H0YBM2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-07-19 IRGM  immunity related GTPase M  IRGM  immunity-related GTPase M  Symbol and/or name change 5135510 APPROVED
2016-05-10 IRGM  immunity-related GTPase M  IRGM  immunity-related GTPase family, M  Symbol and/or name change 5135510 APPROVED