IMPDH2 (inosine monophosphate dehydrogenase 2) - Rat Genome Database

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Gene: IMPDH2 (inosine monophosphate dehydrogenase 2) Homo sapiens
Analyze
Symbol: IMPDH2
Name: inosine monophosphate dehydrogenase 2
RGD ID: 1353070
HGNC Page HGNC:6053
Description: Enables IMP dehydrogenase activity and nucleotide binding activity. Involved in GTP biosynthetic process and circadian rhythm. Located in cytosol and nucleus.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: IMP (inosine 5'-monophosphate) dehydrogenase 2; IMP (inosine monophosphate) dehydrogenase 2; IMP dehydrogenase II; IMP oxireductase 2; IMPD 2; IMPD2; IMPDH 2; IMPDH-II; inosine 5' phosphate dehydrogenase 2; inosine monophosphate dehydrogenase type II; inosine-5'-monophosphate dehydrogenase 2; inosine-5'-monophosphate dehydrogenase type II
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
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
GRCh38349,024,325 - 49,029,398 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl349,024,325 - 49,029,447 (-)EnsemblGRCh38hg38GRCh38
GRCh37349,061,758 - 49,066,831 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36349,036,762 - 49,041,879 (-)NCBINCBI36Build 36hg18NCBI36
Build 34349,036,766 - 49,041,826NCBI
Celera349,018,480 - 49,023,597 (-)NCBICelera
Cytogenetic Map3p21.31NCBI
HuRef349,119,623 - 49,124,740 (-)NCBIHuRef
CHM1_1349,014,319 - 49,019,436 (-)NCBICHM1_1
T2T-CHM13v2.0349,052,365 - 49,057,438 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (EXP)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,6-tribromophenol  (EXP)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
3,3',5,5'-tetrabromobisphenol A  (EXP)
3,7-dihydropurine-6-thione  (EXP)
4,4'-sulfonyldiphenol  (EXP)
4-amino-2,6-dinitrotoluene  (ISO)
5-fluorouracil  (EXP)
acrylamide  (ISO)
all-trans-retinoic acid  (EXP)
aminoglutethimide  (EXP)
aristolochic acid A  (EXP)
arsenous acid  (EXP)
azathioprine  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP)
cadmium dichloride  (ISO)
caffeine  (EXP)
carbamazepine  (EXP)
carbon nanotube  (ISO)
chloropicrin  (EXP)
chlorpyrifos  (ISO)
chromium(6+)  (ISO)
clobetasol  (ISO)
clofibrate  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (EXP)
crocidolite asbestos  (EXP)
cyproconazole  (ISO)
decabromodiphenyl ether  (EXP)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
diethylstilbestrol  (EXP)
diuron  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
enzyme inhibitor  (EXP)
epoxiconazole  (ISO)
fenthion  (ISO)
flusilazole  (ISO)
flutamide  (ISO)
folic acid  (ISO)
FR900359  (EXP)
genistein  (EXP)
gentamycin  (ISO)
guanosine  (ISO)
hexaconazole  (ISO)
ivermectin  (EXP)
Maleic hydrazide  (EXP)
mercaptopurine  (EXP)
methotrexate  (EXP,ISO)
methylmercury chloride  (EXP)
miconazole  (ISO)
microcystin RR  (EXP)
Mizoribine  (ISO)
mycophenolic acid  (ISO)
N-nitrosomorpholine  (ISO)
nefazodone  (ISO)
nimesulide  (ISO)
oxaliplatin  (ISO)
ozone  (EXP)
paracetamol  (EXP,ISO)
paraquat  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP)
phenylmercury acetate  (EXP)
PhIP  (ISO)
pirinixic acid  (ISO)
propiconazole  (ISO)
purine-6-thiol  (EXP)
quercetin  (EXP)
resveratrol  (EXP)
rotenone  (ISO)
SB 431542  (EXP)
senecionine  (ISO)
sodium arsenite  (EXP)
sodium dichromate  (ISO)
sodium dodecyl sulfate  (EXP)
sodium fluoride  (ISO)
Soman  (ISO)
sunitinib  (EXP)
thioacetamide  (ISO)
tioguanine  (EXP)
topotecan  (ISO)
triadimefon  (ISO)
trichloroethene  (ISO)
trimellitic anhydride  (ISO)
Triptolide  (ISO)
triptonide  (ISO)
tungsten  (ISO)
ursodeoxycholic acid  (EXP)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
zearalenone  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Characterisation of inosine monophosphate dehydrogenase expression during retinal development: differences between variants and isoforms. Gunter JH, etal., Int J Biochem Cell Biol. 2008;40(9):1716-28. Epub 2008 Jan 18.
3. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
4. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1574589   PMID:1969416   PMID:2902093   PMID:7763314   PMID:7896827   PMID:7903306   PMID:7910933   PMID:7999076   PMID:8098009   PMID:8681386   PMID:9278455   PMID:9858805  
PMID:10097070   PMID:10194364   PMID:10930578   PMID:11181995   PMID:12477932   PMID:14766016   PMID:15383276   PMID:15489334   PMID:15592455   PMID:15621150   PMID:15670151   PMID:16236267  
PMID:16713569   PMID:17342744   PMID:17353931   PMID:17361185   PMID:17496727   PMID:17660802   PMID:17713475   PMID:18043470   PMID:18444945   PMID:18583139   PMID:18677108   PMID:18976158  
PMID:19367581   PMID:19380743   PMID:19597826   PMID:19617864   PMID:19738201   PMID:19770842   PMID:19810816   PMID:19946888   PMID:20045992   PMID:20061166   PMID:20135634   PMID:20458337  
PMID:20473970   PMID:20679962   PMID:20718729   PMID:20808934   PMID:21081666   PMID:21145461   PMID:21181270   PMID:21319273   PMID:21460227   PMID:21525035   PMID:21653829   PMID:21873635  
PMID:21996196   PMID:22029192   PMID:22066532   PMID:22268729   PMID:22586326   PMID:22863883   PMID:22928911   PMID:22939629   PMID:23166591   PMID:23402259   PMID:23602568   PMID:23667531  
PMID:24169447   PMID:24244333   PMID:24332808   PMID:24477477   PMID:24659377   PMID:24711643   PMID:24980853   PMID:25105143   PMID:25147182   PMID:25392102   PMID:25416956   PMID:25437307  
PMID:25465060   PMID:25756610   PMID:25921289   PMID:25963833   PMID:26167880   PMID:26186194   PMID:26344197   PMID:26496610   PMID:26618866   PMID:26638075   PMID:26641092   PMID:26693507  
PMID:26831064   PMID:26885983   PMID:26972000   PMID:26990986   PMID:27107014   PMID:27342126   PMID:27343244   PMID:27375898   PMID:27378425   PMID:27591049   PMID:27609421   PMID:27684187  
PMID:28076787   PMID:28192407   PMID:28302793   PMID:28389646   PMID:28443643   PMID:28514442   PMID:28515276   PMID:28581483   PMID:28985504   PMID:29117863   PMID:29128334   PMID:29149599  
PMID:29180619   PMID:29229926   PMID:29331416   PMID:29467282   PMID:29507755   PMID:29656893   PMID:30033366   PMID:30196744   PMID:30293565   PMID:30425250   PMID:30442353   PMID:30442662  
PMID:30455355   PMID:30463901   PMID:30518405   PMID:30619736   PMID:30711629   PMID:30833792   PMID:30948266   PMID:31067453   PMID:31073040   PMID:31091453   PMID:31300519   PMID:31337707  
PMID:31371825   PMID:31462707   PMID:31501420   PMID:31519766   PMID:31527615   PMID:31536960   PMID:31586073   PMID:31620119   PMID:31751430   PMID:31871319   PMID:31980649   PMID:31995728  
PMID:31999252   PMID:32129710   PMID:32203420   PMID:32296183   PMID:32305001   PMID:32322062   PMID:32353859   PMID:32416067   PMID:32529326   PMID:32683582   PMID:32687490   PMID:32698014  
PMID:32707033   PMID:32780723   PMID:32786267   PMID:32807901   PMID:32886236   PMID:32963011   PMID:32994395   PMID:33005030   PMID:33022573   PMID:33060197   PMID:33080218   PMID:33087562  
PMID:33226137   PMID:33545068   PMID:33644029   PMID:33711283   PMID:33762435   PMID:33766124   PMID:33838681   PMID:33916271   PMID:33957083   PMID:33961781   PMID:34035425   PMID:34079125  
PMID:34185411   PMID:34305140   PMID:34373451   PMID:34428256   PMID:34591612   PMID:34673127   PMID:34709727   PMID:34728620   PMID:34780058   PMID:35013218   PMID:35031058   PMID:35032548  
PMID:35122331   PMID:35140242   PMID:35256949   PMID:35271311   PMID:35439318   PMID:35446349   PMID:35484884   PMID:35509820   PMID:35546148   PMID:35676659   PMID:35777956   PMID:35831314  
PMID:35944360   PMID:36057605   PMID:36095012   PMID:36114006   PMID:36177032   PMID:36180527   PMID:36180891   PMID:36199071   PMID:36215168   PMID:36217030   PMID:36273042   PMID:36282215  
PMID:36424410   PMID:36517590   PMID:36526897   PMID:36538041   PMID:36629054   PMID:36629882   PMID:36648520   PMID:36657279   PMID:37414152   PMID:37907047   PMID:38113892   PMID:38245532  
PMID:38310229  


Genomics

Comparative Map Data
IMPDH2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38349,024,325 - 49,029,398 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl349,024,325 - 49,029,447 (-)EnsemblGRCh38hg38GRCh38
GRCh37349,061,758 - 49,066,831 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36349,036,762 - 49,041,879 (-)NCBINCBI36Build 36hg18NCBI36
Build 34349,036,766 - 49,041,826NCBI
Celera349,018,480 - 49,023,597 (-)NCBICelera
Cytogenetic Map3p21.31NCBI
HuRef349,119,623 - 49,124,740 (-)NCBIHuRef
CHM1_1349,014,319 - 49,019,436 (-)NCBICHM1_1
T2T-CHM13v2.0349,052,365 - 49,057,438 (-)NCBIT2T-CHM13v2.0
Impdh2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm399108,437,635 - 108,442,776 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl9108,437,485 - 108,442,783 (+)EnsemblGRCm39 Ensembl
GRCm389108,560,436 - 108,565,577 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl9108,560,286 - 108,565,584 (+)EnsemblGRCm38mm10GRCm38
MGSCv379108,462,832 - 108,467,904 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv369108,418,604 - 108,423,676 (+)NCBIMGSCv36mm8
Celera9108,171,703 - 108,176,814 (+)NCBICelera
Cytogenetic Map9F2NCBI
cM Map959.5NCBI
Impdh2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr88118,135,204 - 118,139,892 (+)NCBIGRCr8
mRatBN7.28109,256,705 - 109,261,365 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl8109,256,728 - 109,261,359 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx8114,874,980 - 114,879,615 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.08113,074,314 - 113,078,949 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.08110,916,954 - 110,921,589 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.08117,346,983 - 117,351,619 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl8117,347,029 - 117,351,610 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.08116,691,495 - 116,696,122 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.48113,607,025 - 113,611,613 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.18113,626,482 - 113,631,068 (+)NCBI
Celera8108,552,537 - 108,557,125 (+)NCBICelera
Cytogenetic Map8q32NCBI
Impdh2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555321,045,833 - 1,051,978 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555321,047,138 - 1,051,980 (-)NCBIChiLan1.0ChiLan1.0
IMPDH2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2249,002,115 - 49,008,297 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1349,007,028 - 49,013,216 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0348,948,965 - 48,954,276 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1350,030,291 - 50,035,676 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl350,030,303 - 50,035,676 (-)Ensemblpanpan1.1panPan2
IMPDH2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12040,136,106 - 40,140,983 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2040,136,154 - 40,140,972 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2040,054,292 - 40,059,168 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02040,493,283 - 40,498,161 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2040,493,262 - 40,498,161 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12039,859,889 - 39,864,764 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02040,263,666 - 40,268,542 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02040,543,176 - 40,548,052 (+)NCBIUU_Cfam_GSD_1.0
Impdh2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560263,988,280 - 63,993,092 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936529745,511 - 753,581 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936529748,777 - 753,582 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
IMPDH2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1331,658,650 - 31,663,552 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11331,658,642 - 31,663,660 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21334,901,646 - 34,906,719 (-)NCBISscrofa10.2Sscrofa10.2susScr3
IMPDH2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12210,424,646 - 10,429,917 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2210,421,996 - 10,429,662 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666041156,652,325 - 156,657,621 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Impdh2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247303,071,141 - 3,075,882 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247303,071,132 - 3,075,870 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in IMPDH2
19 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000884.3(IMPDH2):c.787C>T (p.Leu263Phe) single nucleotide variant IMPDH2 enzyme activity, variation in [RCV000015958] Chr3:49026719 [GRCh38]
Chr3:49064152 [GRCh37]
Chr3:3p21.31
pathogenic|association|affects
GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4 copy number gain See cases [RCV000133650] Chr3:45879883..50749922 [GRCh38]
Chr3:45921375..50787353 [GRCh37]
Chr3:45896379..50762357 [NCBI36]
Chr3:3p21.31-21.2
pathogenic
GRCh38/hg38 3p21.31(chr3:48950685-49171381)x4 copy number gain See cases [RCV000143510] Chr3:48950685..49171381 [GRCh38]
Chr3:48988118..49208814 [GRCh37]
Chr3:48963122..49183818 [NCBI36]
Chr3:3p21.31
uncertain significance
GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3 copy number gain See cases [RCV000240519] Chr3:37028313..49929220 [GRCh37]
Chr3:3p22.2-21.31
likely pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616) copy number gain not provided [RCV000767704] Chr3:45153770..53878616 [GRCh37]
Chr3:3p21.31-21.1
pathogenic
NM_000884.3(IMPDH2):c.1471G>C (p.Glu491Gln) single nucleotide variant not provided [RCV003235845] Chr3:49024547 [GRCh38]
Chr3:49061980 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_000884.3(IMPDH2):c.99-4G>A single nucleotide variant not provided [RCV000956094] Chr3:49028810 [GRCh38]
Chr3:49066243 [GRCh37]
Chr3:3p21.31
benign
GRCh37/hg19 3p21.31(chr3:48346677-49630228)x1 copy number loss not provided [RCV001005432] Chr3:48346677..49630228 [GRCh37]
Chr3:3p21.31
pathogenic
NM_000884.3(IMPDH2):c.819+10T>C single nucleotide variant not provided [RCV001612283] Chr3:49026677 [GRCh38]
Chr3:49064110 [GRCh37]
Chr3:3p21.31
benign
GRCh37/hg19 3p21.31-21.2(chr3:48807193-51363558)x1 copy number loss not provided [RCV001259686] Chr3:48807193..51363558 [GRCh37]
Chr3:3p21.31-21.2
pathogenic
NC_000003.11:g.(?_48507870)_(50340407_?)del deletion Aicardi-Goutieres syndrome 1 [RCV001380369] Chr3:48507870..50340407 [GRCh37]
Chr3:3p21.31
pathogenic
NM_000884.3(IMPDH2):c.619G>C (p.Gly207Arg) single nucleotide variant not provided [RCV001766919] Chr3:49026960 [GRCh38]
Chr3:49064393 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_000884.3(IMPDH2):c.715G>C (p.Asp239His) single nucleotide variant not provided [RCV001800150] Chr3:49026791 [GRCh38]
Chr3:49064224 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_000884.3(IMPDH2):c.93_96del (p.Tyr32fs) deletion Dystonic disorder [RCV001788490] Chr3:49029255..49029258 [GRCh38]
Chr3:49066688..49066691 [GRCh37]
Chr3:3p21.31
likely pathogenic
GRCh37/hg19 3p21.31(chr3:49060512-49678685) copy number gain not specified [RCV002053349] Chr3:49060512..49678685 [GRCh37]
Chr3:3p21.31
uncertain significance
NC_000003.11:g.(?_45435946)_(49137751_?)dup duplication Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003116297] Chr3:45435946..49137751 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_000884.3(IMPDH2):c.1044C>A (p.Tyr348Ter) single nucleotide variant not provided [RCV003156705] Chr3:49025232 [GRCh38]
Chr3:49062665 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_000884.3(IMPDH2):c.1142C>T (p.Ala381Val) single nucleotide variant not provided [RCV003231899] Chr3:49025134 [GRCh38]
Chr3:49062567 [GRCh37]
Chr3:3p21.31
uncertain significance
GRCh37/hg19 3p21.31(chr3:44948482-49115809)x1 copy number loss not provided [RCV002279744] Chr3:44948482..49115809 [GRCh37]
Chr3:3p21.31
pathogenic
NM_000884.3(IMPDH2):c.338G>A (p.Gly113Glu) single nucleotide variant Dystonic disorder [RCV002468720] Chr3:49027903 [GRCh38]
Chr3:49065336 [GRCh37]
Chr3:3p21.31
likely pathogenic
NM_000884.3(IMPDH2):c.368C>G (p.Pro123Arg) single nucleotide variant Inborn genetic diseases [RCV002974753] Chr3:49027873 [GRCh38]
Chr3:49065306 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_000884.3(IMPDH2):c.1357A>G (p.Ile453Val) single nucleotide variant Inborn genetic diseases [RCV002901289] Chr3:49024741 [GRCh38]
Chr3:49062174 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_000884.3(IMPDH2):c.750T>G (p.Ile250Met) single nucleotide variant Inborn genetic diseases [RCV002708375] Chr3:49026756 [GRCh38]
Chr3:49064189 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_000884.3(IMPDH2):c.541A>G (p.Lys181Glu) single nucleotide variant Inborn genetic diseases [RCV002759349] Chr3:49027038 [GRCh38]
Chr3:49064471 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_000884.3(IMPDH2):c.614A>G (p.Lys205Arg) single nucleotide variant Inborn genetic diseases [RCV002763766] Chr3:49026965 [GRCh38]
Chr3:49064398 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_000884.3(IMPDH2):c.713A>G (p.Lys238Arg) single nucleotide variant not provided [RCV002745424] Chr3:49026793 [GRCh38]
Chr3:49064226 [GRCh37]
Chr3:3p21.31
likely pathogenic
NM_000884.3(IMPDH2):c.749T>G (p.Ile250Ser) single nucleotide variant not provided [RCV002721141] Chr3:49026757 [GRCh38]
Chr3:49064190 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_000884.3(IMPDH2):c.382C>T (p.Arg128Trp) single nucleotide variant Inborn genetic diseases [RCV002668572] Chr3:49027859 [GRCh38]
Chr3:49065292 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_000884.3(IMPDH2):c.242C>A (p.Ala81Glu) single nucleotide variant not provided [RCV003332591] Chr3:49028438 [GRCh38]
Chr3:49065871 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_000884.3(IMPDH2):c.965G>A (p.Arg322Gln) single nucleotide variant Inborn genetic diseases [RCV003371562] Chr3:49026365 [GRCh38]
Chr3:49063798 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_000884.3(IMPDH2):c.1504G>A (p.Gly502Ser) single nucleotide variant Inborn genetic diseases [RCV003386026] Chr3:49024514 [GRCh38]
Chr3:49061947 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_000884.3(IMPDH2):c.1465_1470del (p.Lys489_Phe490del) deletion not provided [RCV003569826] Chr3:49024548..49024553 [GRCh38]
Chr3:49061981..49061986 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_000884.3(IMPDH2):c.1094G>A (p.Gly365Glu) single nucleotide variant not provided [RCV003437836] Chr3:49025182 [GRCh38]
Chr3:49062615 [GRCh37]
Chr3:3p21.31
uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR34Ahsa-miR-34a-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI22301190

Predicted Target Of
Summary Value
Count of predictions:3339
Count of miRNA genes:863
Interacting mature miRNAs:1017
Transcripts:ENST00000326739, ENST00000429182, ENST00000442157, ENST00000462980, ENST00000463903, ENST00000466147, ENST00000472328, ENST00000481274, ENST00000484872, ENST00000485500, ENST00000491610, ENST00000496837
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
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
GDB:574029  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37349,066,215 - 49,066,815UniSTSGRCh37
Build 36349,041,219 - 49,041,819RGDNCBI36
Celera349,022,937 - 49,023,537RGD
Cytogenetic Map3p21.2UniSTS
HuRef349,124,080 - 49,124,680UniSTS
GDB:574031  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37349,061,791 - 49,066,815UniSTSGRCh37
Build 36349,036,795 - 49,041,819RGDNCBI36
Celera349,018,513 - 49,023,537RGD
Cytogenetic Map3p21.2UniSTS
HuRef349,119,656 - 49,124,680UniSTS
A006Z13  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37349,061,968 - 49,062,178UniSTSGRCh37
Build 36349,036,972 - 49,037,182RGDNCBI36
Celera349,018,690 - 49,018,900RGD
Cytogenetic Map3p21.2UniSTS
HuRef349,119,833 - 49,120,043UniSTS
GeneMap99-GB4 RH Map3157.66UniSTS
RH78497  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37349,062,173 - 49,062,435UniSTSGRCh37
Build 36349,037,177 - 49,037,439RGDNCBI36
Celera349,018,895 - 49,019,157RGD
Cytogenetic Map3p21.2UniSTS
HuRef349,120,038 - 49,120,300UniSTS
GeneMap99-GB4 RH Map3157.55UniSTS


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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 40
Medium 2439 2937 1724 622 1917 463 4357 2175 3720 419 1420 1613 175 1 1204 2788 6 2
Low 54 2 2 34 2 22 14
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001410759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001410760 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001410761 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC137630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY491521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY491522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY491523 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY491524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY545560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006124 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015567 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ900937 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI179056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J04208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L08114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L33842 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L39210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000326739   ⟹   ENSP00000321584
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl349,024,325 - 49,029,398 (-)Ensembl
RefSeq Acc Id: ENST00000429182   ⟹   ENSP00000393525
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl349,024,325 - 49,029,426 (-)Ensembl
RefSeq Acc Id: ENST00000442157   ⟹   ENSP00000403502
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl349,024,343 - 49,029,378 (-)Ensembl
RefSeq Acc Id: ENST00000462980
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl349,024,333 - 49,029,426 (-)Ensembl
RefSeq Acc Id: ENST00000463903
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl349,024,329 - 49,024,838 (-)Ensembl
RefSeq Acc Id: ENST00000466147
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl349,024,325 - 49,025,193 (-)Ensembl
RefSeq Acc Id: ENST00000472328
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl349,024,325 - 49,029,416 (-)Ensembl
RefSeq Acc Id: ENST00000481274
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl349,024,491 - 49,025,415 (-)Ensembl
RefSeq Acc Id: ENST00000484872
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl349,024,343 - 49,025,243 (-)Ensembl
RefSeq Acc Id: ENST00000485500
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl349,027,711 - 49,029,398 (-)Ensembl
RefSeq Acc Id: ENST00000491610
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl349,024,325 - 49,028,127 (-)Ensembl
RefSeq Acc Id: ENST00000496837
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl349,027,870 - 49,029,408 (-)Ensembl
RefSeq Acc Id: ENST00000676607
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl349,024,343 - 49,029,421 (-)Ensembl
RefSeq Acc Id: ENST00000676627
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl349,024,343 - 49,029,195 (-)Ensembl
RefSeq Acc Id: ENST00000676708
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl349,024,343 - 49,029,447 (-)Ensembl
RefSeq Acc Id: ENST00000676864
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl349,024,350 - 49,029,093 (-)Ensembl
RefSeq Acc Id: ENST00000677010   ⟹   ENSP00000503089
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl349,024,343 - 49,029,398 (-)Ensembl
RefSeq Acc Id: ENST00000677108
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl349,024,515 - 49,029,411 (-)Ensembl
RefSeq Acc Id: ENST00000677168
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl349,024,343 - 49,029,102 (-)Ensembl
RefSeq Acc Id: ENST00000677185
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl349,024,360 - 49,029,401 (-)Ensembl
RefSeq Acc Id: ENST00000677205
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl349,024,343 - 49,029,397 (-)Ensembl
RefSeq Acc Id: ENST00000677344
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl349,024,483 - 49,029,441 (-)Ensembl
RefSeq Acc Id: ENST00000677480   ⟹   ENSP00000504378
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl349,024,343 - 49,029,420 (-)Ensembl
RefSeq Acc Id: ENST00000677519
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl349,024,343 - 49,029,396 (-)Ensembl
RefSeq Acc Id: ENST00000677593
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl349,024,576 - 49,029,394 (-)Ensembl
RefSeq Acc Id: ENST00000677740
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl349,024,498 - 49,029,010 (-)Ensembl
RefSeq Acc Id: ENST00000677991
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl349,024,343 - 49,029,413 (-)Ensembl
RefSeq Acc Id: ENST00000678001
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl349,024,343 - 49,029,397 (-)Ensembl
RefSeq Acc Id: ENST00000678085
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl349,024,380 - 49,029,394 (-)Ensembl
RefSeq Acc Id: ENST00000678177
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl349,024,350 - 49,029,354 (-)Ensembl
RefSeq Acc Id: ENST00000678603
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl349,024,343 - 49,029,426 (-)Ensembl
RefSeq Acc Id: ENST00000678724   ⟹   ENSP00000503874
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl349,024,325 - 49,029,412 (-)Ensembl
RefSeq Acc Id: ENST00000678920
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl349,024,343 - 49,029,400 (-)Ensembl
RefSeq Acc Id: ENST00000679019
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl349,024,495 - 49,029,376 (-)Ensembl
RefSeq Acc Id: ENST00000679117   ⟹   ENSP00000503240
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl349,024,325 - 49,029,416 (-)Ensembl
RefSeq Acc Id: ENST00000679339
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl349,024,343 - 49,029,447 (-)Ensembl
RefSeq Acc Id: NM_000884   ⟹   NP_000875
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38349,024,325 - 49,029,398 (-)NCBI
GRCh37349,061,758 - 49,066,875 (-)ENTREZGENE
Build 36349,036,762 - 49,041,879 (-)NCBI Archive
HuRef349,119,623 - 49,124,740 (-)ENTREZGENE
CHM1_1349,014,319 - 49,019,436 (-)NCBI
T2T-CHM13v2.0349,052,365 - 49,057,438 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001410759   ⟹   NP_001397688
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38349,024,325 - 49,029,398 (-)NCBI
T2T-CHM13v2.0349,052,365 - 49,057,438 (-)NCBI
RefSeq Acc Id: NM_001410760   ⟹   NP_001397689
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38349,024,325 - 49,029,398 (-)NCBI
T2T-CHM13v2.0349,052,365 - 49,057,438 (-)NCBI
RefSeq Acc Id: NM_001410761   ⟹   NP_001397690
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38349,024,325 - 49,029,398 (-)NCBI
T2T-CHM13v2.0349,052,365 - 49,057,438 (-)NCBI
RefSeq Acc Id: NP_000875   ⟸   NM_000884
- Peptide Label: isoform 2
- UniProtKB: Q6LEF3 (UniProtKB/Swiss-Prot),   P12268 (UniProtKB/Swiss-Prot),   A0A384N6C2 (UniProtKB/TrEMBL),   A0A7I2V2T3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000393525   ⟸   ENST00000429182
RefSeq Acc Id: ENSP00000403502   ⟸   ENST00000442157
RefSeq Acc Id: ENSP00000321584   ⟸   ENST00000326739
RefSeq Acc Id: ENSP00000503089   ⟸   ENST00000677010
RefSeq Acc Id: ENSP00000504378   ⟸   ENST00000677480
RefSeq Acc Id: ENSP00000503874   ⟸   ENST00000678724
RefSeq Acc Id: ENSP00000503240   ⟸   ENST00000679117
RefSeq Acc Id: NP_001397690   ⟸   NM_001410761
- Peptide Label: isoform 4
- UniProtKB: E7ETK5 (UniProtKB/TrEMBL),   A0A7I2V2T3 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001397689   ⟸   NM_001410760
- Peptide Label: isoform 3
- UniProtKB: A0A7I2YQK5 (UniProtKB/TrEMBL),   A0A7I2V2T3 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001397688   ⟸   NM_001410759
- Peptide Label: isoform 1
- UniProtKB: H0Y4R1 (UniProtKB/TrEMBL),   A0A7I2V2T3 (UniProtKB/TrEMBL)
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P12268-F1-model_v2 AlphaFold P12268 1-514 view protein structure

Promoters
RGD ID:6864372
Promoter ID:EPDNEW_H5351
Type:initiation region
Name:IMPDH2_1
Description:inosine monophosphate dehydrogenase 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38349,029,398 - 49,029,458EPDNEW
RGD ID:6801159
Promoter ID:HG_KWN:44983
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000345658,   OTTHUMT00000345659,   OTTHUMT00000345660,   OTTHUMT00000345661,   OTTHUMT00000345663
Position:
Human AssemblyChrPosition (strand)Source
Build 36349,036,981 - 49,038,827 (-)MPROMDB
RGD ID:6801172
Promoter ID:HG_KWN:44984
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000345662,   OTTHUMT00000345664,   OTTHUMT00000345665,   UC010HKP.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36349,040,156 - 49,041,877 (-)MPROMDB
RGD ID:6801161
Promoter ID:HG_KWN:44985
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000345657,   OTTHUMT00000345666,   OTTHUMT00000345667,   OTTHUMT00000345668
Position:
Human AssemblyChrPosition (strand)Source
Build 36349,041,544 - 49,042,044 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6053 AgrOrtholog
COSMIC IMPDH2 COSMIC
Ensembl Genes ENSG00000178035 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000326739 ENTREZGENE
  ENST00000326739.9 UniProtKB/Swiss-Prot
  ENST00000429182 ENTREZGENE
  ENST00000429182.6 UniProtKB/TrEMBL
  ENST00000442157 ENTREZGENE
  ENST00000442157.2 UniProtKB/TrEMBL
  ENST00000677010.1 UniProtKB/TrEMBL
  ENST00000677480.1 UniProtKB/TrEMBL
  ENST00000678724 ENTREZGENE
  ENST00000678724.1 UniProtKB/TrEMBL
  ENST00000679117.1 UniProtKB/TrEMBL
Gene3D-CATH 3.20.20.70 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000178035 GTEx
HGNC ID HGNC:6053 ENTREZGENE
Human Proteome Map IMPDH2 Human Proteome Map
InterPro Aldolase_TIM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CBS_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CBS_dom_sf UniProtKB/TrEMBL
  IMP_DH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IMP_DH/GMP_Rdtase_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IMP_DH_GMPRt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3615 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 3615 ENTREZGENE
OMIM 146691 OMIM
PANTHER INOSINE-5'-MONOPHOSPHATE DEHYDROGENASE 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11911 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam CBS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IMPDH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB IMPDH2 RGD, PharmGKB
PIRSF IMPDH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE CBS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IMP_DH_GMP_RED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART CBS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IMPDH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Inosine monophosphate dehydrogenase (IMPDH) UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF54631 UniProtKB/TrEMBL
UniProt A0A384N6C2 ENTREZGENE, UniProtKB/TrEMBL
  A0A7I2V2T3 ENTREZGENE, UniProtKB/TrEMBL
  A0A7I2V337_HUMAN UniProtKB/TrEMBL
  A0A7I2V5N6_HUMAN UniProtKB/TrEMBL
  A0A7I2YQK5 ENTREZGENE, UniProtKB/TrEMBL
  E7ETK5 ENTREZGENE, UniProtKB/TrEMBL
  H0Y4R1 ENTREZGENE, UniProtKB/TrEMBL
  IMDH2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q6LEF3 ENTREZGENE
  Q6QE17_HUMAN UniProtKB/TrEMBL
  Q6RUP8_HUMAN UniProtKB/TrEMBL
  Q6RUP9_HUMAN UniProtKB/TrEMBL
UniProt Secondary Q6LEF3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-28 IMPDH2  inosine monophosphate dehydrogenase 2  IMPDH2  IMP (inosine 5'-monophosphate) dehydrogenase 2  Symbol and/or name change 5135510 APPROVED
2011-07-27 IMPDH2  IMP (inosine 5'-monophosphate) dehydrogenase 2  IMPDH2  IMP (inosine monophosphate) dehydrogenase 2  Symbol and/or name change 5135510 APPROVED