TGM2 (transglutaminase 2) - Rat Genome Database

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Gene: TGM2 (transglutaminase 2) Homo sapiens
Analyze
Symbol: TGM2
Name: transglutaminase 2
RGD ID: 732487
HGNC Page HGNC
Description: Enables several functions, including GTP binding activity; N-acyltransferase activity; and protein-glutamine gamma-glutamyltransferase activity. Involved in several processes, including cellular calcium ion homeostasis; cellular protein modification process; and cellular response to organonitrogen compound. Located in several cellular components, including chromatin; mitochondrion; and perinuclear region of cytoplasm. Is intrinsic component of plasma membrane. Colocalizes with collagen-containing extracellular matrix.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: C polypeptide; C polypeptide, protein-glutamine-gamma-glutamyltransferase; epididymis secretory protein Li 45; erythrocyte transglutaminase; G(h); G-ALPHA-h; GNAH; heart G alpha(h); HEL-S-45; hhG alpha(h); hTG2; isopeptidase TGM2; protein-glutamine deamidase TGM2; protein-glutamine dopaminyltransferase TGM2; protein-glutamine gamma-glutamyltransferase 2; protein-glutamine histaminyltransferase TGM2; protein-glutamine noradrenalinyltransferase TGM2; protein-glutamine serotonyltransferase TGM2; protein-glutamine-gamma-glutamyltransferase; TG(C); TG2; TGase C; TGase H; TGase II; TGase-2; TGase-H; TGC; tissue transglutaminase; tissue-type transglutaminase; transglutaminase C; transglutaminase H; transglutaminase II; transglutaminase-2; tTG; tTgase
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
GRCh38.p13 Ensembl2038,127,385 - 38,166,578 (-)EnsemblGRCh38hg38GRCh38
GRCh382038,127,385 - 38,166,508 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372036,755,787 - 36,794,910 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362036,190,277 - 36,227,114 (-)NCBINCBI36hg18NCBI36
Build 342036,199,764 - 36,227,114NCBI
Celera2033,465,637 - 33,502,475 (-)NCBI
Cytogenetic Map20q11.23NCBI
HuRef2033,493,671 - 33,530,533 (-)NCBIHuRef
CHM1_12036,660,115 - 36,696,950 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4,6-trinitrobenzenesulfonic acid  (ISO)
2-bromohexadecanoic acid  (EXP)
2-butoxyethanol  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3-chloropropane-1,2-diol  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-\{[(5,5,8,8-tetramethyl-5,6,7,8-tetrahydronaphthalen-2-yl)carbonyl]amino\}benzoic acid  (EXP)
4-hexylbenzene-1,3-diol  (EXP)
4-hydroxyphenyl retinamide  (ISO)
7-ketocholesterol  (EXP)
9-cis-retinoic acid  (EXP)
acrylamide  (ISO)
aflatoxin B1  (EXP,ISO)
all-trans-4-oxoretinoic acid  (EXP)
all-trans-4-oxoretinol  (EXP)
all-trans-retinoic acid  (EXP,ISO)
all-trans-retinol  (EXP,ISO)
ammonium chloride  (ISO)
aristolochic acid  (EXP)
arotinoid acid  (EXP)
arsenous acid  (EXP)
astaxanthin  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[e]pyrene  (EXP)
benzoates  (EXP)
beta-carotene  (EXP)
beta-naphthoflavone  (EXP)
bexarotene  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bucladesine  (ISO)
budesonide  (ISO)
buspirone  (ISO)
butan-1-ol  (EXP)
C60 fullerene  (ISO)
cadmium dichloride  (EXP)
calcitriol  (EXP)
carbon nanotube  (ISO)
carbonyl sulfide  (ISO)
chlorpyrifos  (ISO)
choline  (ISO)
cisplatin  (EXP)
cobalt dichloride  (EXP,ISO)
copper atom  (ISO)
copper(0)  (ISO)
corticosterone  (ISO)
crocidolite asbestos  (EXP)
Cuprizon  (ISO)
curcumin  (ISO)
cyclosporin A  (EXP,ISO)
cystamine  (ISO)
daidzein  (ISO)
dexamethasone  (ISO)
diarsenic trioxide  (EXP)
diazinon  (EXP,ISO)
dibenz[a,h]anthracene  (EXP)
dieldrin  (ISO)
diethyl maleate  (ISO)
dimethyl sulfoxide  (EXP)
dioxygen  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
entinostat  (EXP)
enzacamene  (EXP)
ethanol  (EXP,ISO)
ferric oxide  (ISO)
finasteride  (ISO)
flunisolide  (ISO)
flusilazole  (ISO)
flutamide  (ISO)
formaldehyde  (EXP)
gentamycin  (ISO)
graphite  (ISO)
griseofulvin  (ISO)
GTP  (EXP)
hemin  (EXP)
heptachlor  (ISO)
hydrazine  (ISO)
isobutanol  (EXP)
isoprenaline  (ISO)
isoxazoles  (EXP,ISO)
ivermectin  (EXP)
lipopolysaccharide  (ISO)
LY294002  (EXP)
methapyrilene  (EXP)
methoxychlor  (ISO)
microcystin-LR  (ISO)
mitomycin C  (EXP)
mometasone furoate  (ISO)
monodansylcadaverine  (EXP)
N-acetyl-L-cysteine  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
N-nitrosodiethylamine  (EXP)
naphthalene  (ISO)
nefazodone  (ISO)
nickel atom  (EXP)
nimesulide  (ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
PD 0325901  (EXP)
phenobarbital  (ISO)
phenylephrine  (ISO)
phorbol 13-acetate 12-myristate  (ISO)
pinocembrin  (EXP)
pirinixic acid  (ISO)
piroxicam  (EXP)
potassium chromate  (EXP)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (EXP,ISO)
propiconazole  (ISO)
putrescine  (ISO)
quercetin  (EXP,ISO)
quercitrin  (EXP)
raloxifene  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP,ISO)
silver atom  (EXP)
silver(0)  (EXP)
sirolimus  (ISO)
Soman  (ISO)
succimer  (ISO)
sulindac  (EXP)
sunitinib  (EXP)
tamibarotene  (EXP)
tamoxifen  (EXP,ISO)
tauroursodeoxycholic acid  (ISO)
temozolomide  (EXP)
tert-butyl hydroperoxide  (EXP)
Tesaglitazar  (ISO)
testosterone  (EXP,ISO)
tetrachloromethane  (ISO)
thapsigargin  (EXP)
thiophenes  (EXP)
titanium dioxide  (ISO)
toluene  (ISO)
topotecan  (EXP)
tributylstannane  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP,ISO)
triclosan  (EXP)
triptonide  (ISO)
tris(2-butoxyethyl) phosphate  (EXP)
troglitazone  (ISO)
trovafloxacin  (ISO)
undecane  (ISO)
ursodeoxycholic acid  (ISO)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
vinclozolin  (ISO)
vitamin D  (EXP)
vitamin K  (ISO)
warfarin  (ISO)
XL147  (ISO)
zinc atom  (ISO)
zinc(0)  (ISO)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

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

Human Phenotype
References

Additional References at PubMed
PMID:1353685   PMID:1358880   PMID:1670766   PMID:1670773   PMID:2578891   PMID:7592956   PMID:7649299   PMID:7688299   PMID:7730416   PMID:7906657   PMID:7912692   PMID:7935379  
PMID:8105889   PMID:8611626   PMID:8943303   PMID:9060478   PMID:9252372   PMID:9315663   PMID:9442029   PMID:9512491   PMID:9575137   PMID:9623982   PMID:9973324   PMID:10100610  
PMID:10518533   PMID:10521459   PMID:10556977   PMID:10561600   PMID:10611475   PMID:10684262   PMID:10922377   PMID:10958788   PMID:10963790   PMID:11258932   PMID:11278623   PMID:11350930  
PMID:11390390   PMID:11442349   PMID:11686302   PMID:11742196   PMID:11762979   PMID:11780052   PMID:11829448   PMID:11867708   PMID:11867764   PMID:12061780   PMID:12093810   PMID:12368090  
PMID:12410804   PMID:12438565   PMID:12477932   PMID:12506096   PMID:12527383   PMID:12528814   PMID:12743114   PMID:12853457   PMID:12960346   PMID:14517264   PMID:14631123   PMID:14747475  
PMID:14752105   PMID:14985437   PMID:15069073   PMID:15199098   PMID:15201665   PMID:15220331   PMID:15231748   PMID:15272014   PMID:15362860   PMID:15460447   PMID:15489334   PMID:15556610  
PMID:15592455   PMID:15691824   PMID:15715085   PMID:15746535   PMID:15752564   PMID:15886239   PMID:16146723   PMID:16146727   PMID:16146777   PMID:16153302   PMID:16212417   PMID:16285941  
PMID:16300411   PMID:16301118   PMID:16313886   PMID:16338459   PMID:16344560   PMID:16368540   PMID:16368554   PMID:16382148   PMID:16407273   PMID:16439457   PMID:16449978   PMID:16522628  
PMID:16720350   PMID:16757564   PMID:16826431   PMID:16914140   PMID:16951195   PMID:17043648   PMID:17171363   PMID:17189522   PMID:17228174   PMID:17314516   PMID:17374730   PMID:17403029  
PMID:17440814   PMID:17442486   PMID:17476115   PMID:17609251   PMID:17625111   PMID:17671187   PMID:17711877   PMID:17762854   PMID:17890909   PMID:17924658   PMID:17939176   PMID:18052077  
PMID:18092889   PMID:18174247   PMID:18235007   PMID:18312620   PMID:18353867   PMID:18375543   PMID:18381937   PMID:18474442   PMID:18490773   PMID:18499669   PMID:18505736   PMID:18544639  
PMID:18561261   PMID:18584285   PMID:18587533   PMID:18632639   PMID:18667446   PMID:18673368   PMID:18793760   PMID:18804908   PMID:18809380   PMID:18849643   PMID:18923241   PMID:19013523  
PMID:19056867   PMID:19182256   PMID:19183553   PMID:19278990   PMID:19324884   PMID:19342211   PMID:19403524   PMID:19542224   PMID:19562471   PMID:19619546   PMID:19625650   PMID:19628791  
PMID:19632032   PMID:19655169   PMID:19657147   PMID:19680746   PMID:19738201   PMID:19756726   PMID:19838207   PMID:19840940   PMID:19878304   PMID:19912255   PMID:19931242   PMID:19937343  
PMID:20007697   PMID:20033322   PMID:20052409   PMID:20080707   PMID:20156196   PMID:20371597   PMID:20437185   PMID:20450916   PMID:20450932   PMID:20488756   PMID:20489165   PMID:20547769  
PMID:20596752   PMID:20615646   PMID:20659425   PMID:20665636   PMID:20676023   PMID:20717931   PMID:20731657   PMID:20731658   PMID:20739659   PMID:20874003   PMID:20926141   PMID:20929862  
PMID:20967228   PMID:21036168   PMID:21036738   PMID:21124911   PMID:21129482   PMID:21226238   PMID:21304968   PMID:21359202   PMID:21368175   PMID:21423176   PMID:21441900   PMID:21525012  
PMID:21625219   PMID:21678409   PMID:21757696   PMID:21777419   PMID:21818567   PMID:21830119   PMID:21832049   PMID:21840417   PMID:21873635   PMID:21900206   PMID:21908620   PMID:21935707  
PMID:21943122   PMID:21963846   PMID:21967801   PMID:21971542   PMID:21984378   PMID:21988832   PMID:22038180   PMID:22080209   PMID:22083892   PMID:22086212   PMID:22089883   PMID:22130737  
PMID:22139411   PMID:22160262   PMID:22198767   PMID:22220471   PMID:22220472   PMID:22220474   PMID:22220475   PMID:22220476   PMID:22220477   PMID:22220479   PMID:22225906   PMID:22228808  
PMID:22231926   PMID:22268729   PMID:22298777   PMID:22320917   PMID:22322858   PMID:22326684   PMID:22364871   PMID:22366952   PMID:22382775   PMID:22385244   PMID:22418443   PMID:22442151  
PMID:22451718   PMID:22458929   PMID:22460364   PMID:22493284   PMID:22652528   PMID:22698685   PMID:22750506   PMID:22782215   PMID:22863883   PMID:22921425   PMID:22923476   PMID:23076164  
PMID:23085038   PMID:23085087   PMID:23122413   PMID:23185316   PMID:23200849   PMID:23224146   PMID:23276939   PMID:23290789   PMID:23425695   PMID:23454274   PMID:23499501   PMID:23533145  
PMID:23538006   PMID:23576428   PMID:23640056   PMID:23673317   PMID:23730209   PMID:23765377   PMID:23770238   PMID:23797785   PMID:23804301   PMID:23817628   PMID:23853482   PMID:23877317  
PMID:23913269   PMID:23941696   PMID:23966323   PMID:23979707   PMID:23993960   PMID:24052076   PMID:24058567   PMID:24085483   PMID:24130874   PMID:24175906   PMID:24191290   PMID:24193434  
PMID:24291354   PMID:24325651   PMID:24349085   PMID:24352382   PMID:24375405   PMID:24375797   PMID:24464646   PMID:24477458   PMID:24481335   PMID:24494193   PMID:24569994   PMID:24583754  
PMID:24603819   PMID:24610445   PMID:24667918   PMID:24725450   PMID:24732400   PMID:24778599   PMID:24828664   PMID:24885370   PMID:25015117   PMID:25037231   PMID:25060553   PMID:25131137  
PMID:25192068   PMID:25201980   PMID:25209703   PMID:25215932   PMID:25243117   PMID:25247996   PMID:25398223   PMID:25404341   PMID:25419572   PMID:25449226   PMID:25547897   PMID:25557247  
PMID:25561282   PMID:25796446   PMID:25808416   PMID:25934691   PMID:25934693   PMID:25952500   PMID:25963833   PMID:26041746   PMID:26133738   PMID:26133787   PMID:26153762   PMID:26160175  
PMID:26184652   PMID:26244572   PMID:26250429   PMID:26307914   PMID:26496610   PMID:26542019   PMID:26568304   PMID:26618866   PMID:26702927   PMID:26771235   PMID:26956429   PMID:26957434  
PMID:27031960   PMID:27084846   PMID:27097694   PMID:27115725   PMID:27169826   PMID:27169926   PMID:27234323   PMID:27357308   PMID:27378395   PMID:27394141   PMID:27394142   PMID:27439586  
PMID:27488529   PMID:27562793   PMID:27562794   PMID:27579892   PMID:27591334   PMID:27613463   PMID:27620315   PMID:27627884   PMID:27633721   PMID:27649154   PMID:27659795   PMID:27669502  
PMID:27685605   PMID:27761756   PMID:27780825   PMID:27784785   PMID:27792935   PMID:27864692   PMID:27899316   PMID:27906802   PMID:27941875   PMID:28003361   PMID:28005267   PMID:28106549  
PMID:28112686   PMID:28150335   PMID:28223538   PMID:28248968   PMID:28327460   PMID:28339069   PMID:28423611   PMID:28644352   PMID:28675934   PMID:28684792   PMID:28715877   PMID:28754668  
PMID:28756971   PMID:28880274   PMID:28934109   PMID:29170410   PMID:29238072   PMID:29268771   PMID:29305423   PMID:29313085   PMID:29374703   PMID:29467282   PMID:29509794   PMID:29543397  
PMID:29618516   PMID:29961565   PMID:30015899   PMID:30016777   PMID:30082873   PMID:30105541   PMID:30120307   PMID:30237268   PMID:30321187   PMID:30458214   PMID:30463901   PMID:30471916  
PMID:30575818   PMID:30590033   PMID:30647729   PMID:30726722   PMID:30779476   PMID:30867594   PMID:30979931   PMID:31024071   PMID:31035965   PMID:31058279   PMID:31173203   PMID:31570702  
PMID:31638822   PMID:31653576   PMID:31767272   PMID:31914588   PMID:32085516   PMID:32134139   PMID:32260198   PMID:32273471   PMID:32381465   PMID:32441391   PMID:32467608   PMID:32500186  
PMID:32513696   PMID:32572027   PMID:32593411   PMID:32683582   PMID:32697952   PMID:32708896   PMID:32780723   PMID:32867128   PMID:32898582   PMID:33066266   PMID:33422029   PMID:33435987  
PMID:33644029   PMID:33959126   PMID:33961781   PMID:34014552   PMID:34360011  


Genomics

Comparative Map Data
TGM2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2038,127,385 - 38,166,578 (-)EnsemblGRCh38hg38GRCh38
GRCh382038,127,385 - 38,166,508 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372036,755,787 - 36,794,910 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362036,190,277 - 36,227,114 (-)NCBINCBI36hg18NCBI36
Build 342036,199,764 - 36,227,114NCBI
Celera2033,465,637 - 33,502,475 (-)NCBI
Cytogenetic Map20q11.23NCBI
HuRef2033,493,671 - 33,530,533 (-)NCBIHuRef
CHM1_12036,660,115 - 36,696,950 (-)NCBICHM1_1
Tgm2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392157,958,325 - 157,988,312 (-)NCBIGRCm39mm39
GRCm39 Ensembl2157,958,322 - 157,988,356 (-)Ensembl
GRCm382158,116,405 - 158,146,392 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2158,116,402 - 158,146,436 (-)EnsemblGRCm38mm10GRCm38
MGSCv372157,942,141 - 157,972,128 (-)NCBIGRCm37mm9NCBIm37
MGSCv362157,807,846 - 157,837,833 (-)NCBImm8
Celera2164,061,515 - 164,091,498 (-)NCBICelera
Cytogenetic Map2H1NCBI
cM Map278.72NCBI
Tgm2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.23146,772,684 - 146,801,924 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl3146,772,687 - 146,801,981 (-)Ensembl
Rnor_6.03154,597,165 - 154,627,257 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3154,597,168 - 154,627,257 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03160,977,905 - 161,007,261 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43148,832,866 - 148,862,385 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.13148,738,777 - 148,768,294 (-)NCBI
Celera3145,473,663 - 145,503,117 (-)NCBICelera
Cytogenetic Map3q42NCBI
Tgm2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544518,544,183 - 18,576,570 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495544518,544,192 - 18,576,576 (+)NCBIChiLan1.0ChiLan1.0
TGM2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12035,561,819 - 35,599,099 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2035,561,819 - 35,599,042 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02034,450,845 - 34,488,106 (-)NCBIMhudiblu_PPA_v0panPan3
TGM2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12426,631,339 - 26,662,723 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2426,628,009 - 26,663,840 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2426,277,181 - 26,308,444 (-)NCBI
ROS_Cfam_1.02427,327,862 - 27,359,126 (-)NCBI
UMICH_Zoey_3.12426,602,350 - 26,633,607 (-)NCBI
UNSW_CanFamBas_1.02426,710,189 - 26,741,409 (-)NCBI
UU_Cfam_GSD_1.02427,198,294 - 27,229,594 (-)NCBI
Tgm2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640175,541,933 - 175,571,217 (-)NCBI
SpeTri2.0NW_0049365613,178,244 - 3,207,551 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TGM2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1741,186,766 - 41,221,637 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11741,186,765 - 41,221,686 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21746,592,093 - 46,629,982 (+)NCBISscrofa10.2Sscrofa10.2susScr3
TGM2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1225,585,827 - 25,623,961 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl225,585,865 - 25,624,280 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366605074,426,778 - 74,465,107 (+)NCBIVero_WHO_p1.0
Tgm2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248421,491,583 - 1,522,293 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
SHGC-12855  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372036,758,217 - 36,758,551UniSTSGRCh37
Build 362036,191,631 - 36,191,965RGDNCBI36
Celera2033,466,991 - 33,467,325RGD
Cytogenetic Map20q12UniSTS
HuRef2033,495,025 - 33,495,359UniSTS
GeneMap99-GB4 RH Map20231.84UniSTS
Whitehead-RH Map20227.8UniSTS
NCBI RH Map20346.7UniSTS
GeneMap99-G3 RH Map202036.0UniSTS
D20S543E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372036,756,897 - 36,757,036UniSTSGRCh37
Build 362036,190,311 - 36,190,450RGDNCBI36
Celera2033,465,671 - 33,465,810RGD
Cytogenetic Map20q12UniSTS
HuRef2033,493,705 - 33,493,844UniSTS
GeneMap99-GB4 RH Map20231.84UniSTS
NCBI RH Map20346.7UniSTS
TGM2_2385  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372036,756,854 - 36,757,493UniSTSGRCh37
Build 362036,190,268 - 36,190,907RGDNCBI36
Celera2033,465,628 - 33,466,267RGD
HuRef2033,493,662 - 33,494,301UniSTS
D20S1009  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372036,756,903 - 36,757,044UniSTSGRCh37
Build 362036,190,317 - 36,190,458RGDNCBI36
Celera2033,465,677 - 33,465,818RGD
Cytogenetic Map20q12UniSTS
HuRef2033,493,711 - 33,493,852UniSTS
TNG Radiation Hybrid Map2017000.0UniSTS
GeneMap99-GB4 RH Map20212.77UniSTS
NCBI RH Map20315.7UniSTS
GeneMap99-G3 RH Map202036.0UniSTS
WI-20127  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372036,756,924 - 36,757,212UniSTSGRCh37
Build 362036,190,338 - 36,190,626RGDNCBI36
Celera2033,465,698 - 33,465,986RGD
Cytogenetic Map20q12UniSTS
HuRef2033,493,732 - 33,494,020UniSTS
GeneMap99-GB4 RH Map20212.44UniSTS
Whitehead-RH Map20227.7UniSTS
RH45330  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372036,757,627 - 36,757,821UniSTSGRCh37
Build 362036,191,041 - 36,191,235RGDNCBI36
Celera2033,466,401 - 33,466,595RGD
Cytogenetic Map20q12UniSTS
HuRef2033,494,435 - 33,494,629UniSTS
GeneMap99-GB4 RH Map20213.05UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR1285-1hsa-miR-1285-3pOncomiRDBexternal_infoNANA22294552

Predicted Target Of
Summary Value
Count of predictions:3199
Count of miRNA genes:1018
Interacting mature miRNAs:1274
Transcripts:ENST00000361475, ENST00000373403, ENST00000453095, ENST00000468262, ENST00000469269, ENST00000474777, ENST00000536701, ENST00000536724
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.


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
High 12 763 15 11 11 488 24 5 3 79 209 1 485
Medium 2335 1565 1691 562 695 448 2488 2015 2815 363 1102 1289 127 1197 1660 2
Low 69 656 14 49 1069 6 1371 146 879 49 270 69 45 1 6 643 3
Below cutoff 21 6 5 147 8 11 18 4 8 46 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001323316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001323317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001323318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004613 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_198951 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011529028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA493184 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF311286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK058031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126508 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291714 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314618 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL031651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL512703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY675221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC003551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC073946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG772156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ011237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ430537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ938957 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX471706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA444769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB064707 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ523828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU794665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY030430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JC444048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M55153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M98478 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M98479 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S81734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U13920 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000361475   ⟹   ENSP00000355330
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2038,127,385 - 38,165,270 (-)Ensembl
RefSeq Acc Id: ENST00000373403   ⟹   ENSP00000362502
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2038,146,734 - 38,166,508 (-)Ensembl
RefSeq Acc Id: ENST00000453095   ⟹   ENSP00000387642
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2038,151,012 - 38,166,578 (-)Ensembl
RefSeq Acc Id: ENST00000468262
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2038,137,950 - 38,165,282 (-)Ensembl
RefSeq Acc Id: ENST00000469269
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2038,128,461 - 38,133,760 (-)Ensembl
RefSeq Acc Id: ENST00000474777
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2038,145,350 - 38,165,259 (-)Ensembl
RefSeq Acc Id: NM_001323316   ⟹   NP_001310245
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382038,127,385 - 38,166,508 (-)NCBI
CHM1_12036,659,041 - 36,698,230 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001323317   ⟹   NP_001310246
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382038,127,385 - 38,165,270 (-)NCBI
CHM1_12036,659,041 - 36,697,081 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001323318   ⟹   NP_001310247
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382038,127,385 - 38,165,270 (-)NCBI
CHM1_12036,659,041 - 36,697,081 (-)NCBI
Sequence:
RefSeq Acc Id: NM_004613   ⟹   NP_004604
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382038,127,385 - 38,165,270 (-)NCBI
GRCh372036,756,863 - 36,794,910 (-)NCBI
Build 362036,190,277 - 36,227,114 (-)NCBI Archive
HuRef2033,493,671 - 33,530,533 (-)ENTREZGENE
CHM1_12036,659,041 - 36,697,081 (-)NCBI
Sequence:
RefSeq Acc Id: NM_198951   ⟹   NP_945189
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382038,137,943 - 38,165,270 (-)NCBI
GRCh372036,756,863 - 36,794,910 (-)NCBI
Build 362036,199,765 - 36,227,114 (-)NCBI Archive
HuRef2033,493,671 - 33,530,533 (-)ENTREZGENE
CHM1_12036,669,603 - 36,697,081 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011529028   ⟹   XP_011527330
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382038,128,461 - 38,166,508 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001310245 (Get FASTA)   NCBI Sequence Viewer  
  NP_001310246 (Get FASTA)   NCBI Sequence Viewer  
  NP_001310247 (Get FASTA)   NCBI Sequence Viewer  
  NP_004604 (Get FASTA)   NCBI Sequence Viewer  
  NP_945189 (Get FASTA)   NCBI Sequence Viewer  
  XP_011527330 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA36739 (Get FASTA)   NCBI Sequence Viewer  
  AAA63261 (Get FASTA)   NCBI Sequence Viewer  
  AAB36379 (Get FASTA)   NCBI Sequence Viewer  
  AAD14780 (Get FASTA)   NCBI Sequence Viewer  
  AAH03551 (Get FASTA)   NCBI Sequence Viewer  
  AAH73946 (Get FASTA)   NCBI Sequence Viewer  
  AAK15272 (Get FASTA)   NCBI Sequence Viewer  
  AAT79353 (Get FASTA)   NCBI Sequence Viewer  
  ABF47109 (Get FASTA)   NCBI Sequence Viewer  
  ACJ13719 (Get FASTA)   NCBI Sequence Viewer  
  BAF84403 (Get FASTA)   NCBI Sequence Viewer  
  BAG37184 (Get FASTA)   NCBI Sequence Viewer  
  BAG58599 (Get FASTA)   NCBI Sequence Viewer  
  BAG62049 (Get FASTA)   NCBI Sequence Viewer  
  CAC21649 (Get FASTA)   NCBI Sequence Viewer  
  CDM63683 (Get FASTA)   NCBI Sequence Viewer  
  EAW76040 (Get FASTA)   NCBI Sequence Viewer  
  EAW76041 (Get FASTA)   NCBI Sequence Viewer  
  EAW76042 (Get FASTA)   NCBI Sequence Viewer  
  EAW76043 (Get FASTA)   NCBI Sequence Viewer  
  EAW76044 (Get FASTA)   NCBI Sequence Viewer  
  P21980 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_004604   ⟸   NM_004613
- Peptide Label: isoform a
- UniProtKB: P21980 (UniProtKB/Swiss-Prot),   V9HWG3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_945189   ⟸   NM_198951
- Peptide Label: isoform b
- UniProtKB: P21980 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011527330   ⟸   XM_011529028
- Peptide Label: isoform X1
- UniProtKB: P21980 (UniProtKB/Swiss-Prot),   V9HWG3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001310245   ⟸   NM_001323316
- Peptide Label: isoform a
- UniProtKB: P21980 (UniProtKB/Swiss-Prot),   V9HWG3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001310247   ⟸   NM_001323318
- Peptide Label: isoform d
- UniProtKB: B4DTN7 (UniProtKB/TrEMBL),   V9HWG3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001310246   ⟸   NM_001323317
- Peptide Label: isoform c
- UniProtKB: B4DIT7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000362502   ⟸   ENST00000373403
RefSeq Acc Id: ENSP00000387642   ⟸   ENST00000453095
RefSeq Acc Id: ENSP00000355330   ⟸   ENST00000361475
Protein Domains
TGc   Transglut_C   Transglut_N

Promoters
RGD ID:6799129
Promoter ID:HG_KWN:39373
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid
Transcripts:NM_198951,   OTTHUMT00000079151,   OTTHUMT00000276740,   UC002XHS.1,   UC002XHU.2
Position:
Human AssemblyChrPosition (strand)Source
Build 362036,226,774 - 36,227,274 (-)MPROMDB
RGD ID:6851552
Promoter ID:EP73577
Type:single initiation site
Name:HS_TGM2
Description:Transglutaminase 2 (C polypeptide,protein-glutamine-gamma-glutamyltransferase).
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 362036,227,086 - 36,227,146EPD
RGD ID:13206907
Promoter ID:EPDNEW_H27034
Type:initiation region
Name:TGM2_1
Description:transglutaminase 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
GRCh382038,165,270 - 38,165,330EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 20q11.22-12(chr20:34541747-39663219)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052766]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052766]|See cases [RCV000052766] Chr20:34541747..39663219 [GRCh38]
Chr20:33129551..38291861 [GRCh37]
Chr20:32593212..37725275 [NCBI36]
Chr20:20q11.22-12
pathogenic
GRCh38/hg38 20q11.22-13.11(chr20:34249453-43359749)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053002]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053002]|See cases [RCV000053002] Chr20:34249453..43359749 [GRCh38]
Chr20:32837259..41988389 [GRCh37]
Chr20:32300920..41421803 [NCBI36]
Chr20:20q11.22-13.11
pathogenic
GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3 copy number gain See cases [RCV000052999] Chr20:9811433..39316956 [GRCh38]
Chr20:9792081..37945599 [GRCh37]
Chr20:9740081..37379013 [NCBI36]
Chr20:20p12.2-q12
pathogenic
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 copy number gain See cases [RCV000135859] Chr20:99557..64277321 [GRCh38]
Chr20:80198..62908674 [GRCh37]
Chr20:28198..62379118 [NCBI36]
Chr20:20p13-q13.33
pathogenic
GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1 copy number loss See cases [RCV000140816] Chr20:35237946..47631818 [GRCh38]
Chr20:33825749..46260562 [GRCh37]
Chr20:33289165..45693969 [NCBI36]
Chr20:20q11.22-13.12
pathogenic
GRCh38/hg38 20q11.23(chr20:38110353-38199281)x3 copy number gain See cases [RCV000141031] Chr20:38110353..38199281 [GRCh38]
Chr20:36738755..36827683 [GRCh37]
Chr20:36172169..36261097 [NCBI36]
Chr20:20q11.23
uncertain significance
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3 copy number gain See cases [RCV000510832] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33
pathogenic
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555) copy number gain See cases [RCV000512450] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33
pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3 copy number gain not provided [RCV000741058] Chr20:63244..62948788 [GRCh37]
Chr20:20p13-q13.33
pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3 copy number gain not provided [RCV000741059] Chr20:63244..62961294 [GRCh37]
Chr20:20p13-q13.33
pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3 copy number gain not provided [RCV000741057] Chr20:63244..62912463 [GRCh37]
Chr20:20p13-q13.33
pathogenic
NM_004613.4(TGM2):c.100C>A (p.Arg34=) single nucleotide variant not provided [RCV000921898] Chr20:38161510 [GRCh38]
Chr20:36789912 [GRCh37]
Chr20:20q11.23
likely benign
NM_004613.4(TGM2):c.1905G>A (p.Thr635=) single nucleotide variant not provided [RCV000970369] Chr20:38131101 [GRCh38]
Chr20:36759503 [GRCh37]
Chr20:20q11.23
benign
NM_004613.4(TGM2):c.227G>A (p.Arg76His) single nucleotide variant not provided [RCV000959301] Chr20:38156053 [GRCh38]
Chr20:36784455 [GRCh37]
Chr20:20q11.23
benign
NM_004613.4(TGM2):c.1170G>A (p.Ala390=) single nucleotide variant not provided [RCV000949623] Chr20:38139584 [GRCh38]
Chr20:36767986 [GRCh37]
Chr20:20q11.23
benign
NM_004613.4(TGM2):c.942G>A (p.Glu314=) single nucleotide variant not provided [RCV000923541] Chr20:38142117 [GRCh38]
Chr20:36770519 [GRCh37]
Chr20:20q11.23
benign
NM_004613.4(TGM2):c.651C>G (p.Pro217=) single nucleotide variant not provided [RCV000968769] Chr20:38147991 [GRCh38]
Chr20:36776393 [GRCh37]
Chr20:20q11.23
benign
NM_004613.4(TGM2):c.1248C>A (p.Ile416=) single nucleotide variant not provided [RCV000899831] Chr20:38139506 [GRCh38]
Chr20:36767908 [GRCh37]
Chr20:20q11.23
benign
NM_004613.4(TGM2):c.621C>T (p.Ala207=) single nucleotide variant not provided [RCV000983688] Chr20:38148021 [GRCh38]
Chr20:36776423 [GRCh37]
Chr20:20q11.23
likely benign
NM_004613.4(TGM2):c.435G>A (p.Ala145=) single nucleotide variant not provided [RCV000904327] Chr20:38151056 [GRCh38]
Chr20:36779458 [GRCh37]
Chr20:20q11.23
benign
NM_004613.4(TGM2):c.744C>T (p.Gly248=) single nucleotide variant not provided [RCV000896303] Chr20:38146832 [GRCh38]
Chr20:36775234 [GRCh37]
Chr20:20q11.23
likely benign
NM_004613.4(TGM2):c.328G>A (p.Ala110Thr) single nucleotide variant not provided [RCV000967553] Chr20:38155952 [GRCh38]
Chr20:36784354 [GRCh37]
Chr20:20q11.23
likely benign
NM_004613.4(TGM2):c.1104G>A (p.Thr368=) single nucleotide variant not provided [RCV000939635] Chr20:38139650 [GRCh38]
Chr20:36768052 [GRCh37]
Chr20:20q11.23
likely benign
NM_004613.4(TGM2):c.1923C>T (p.Pro641=) single nucleotide variant not provided [RCV000968768] Chr20:38130360 [GRCh38]
Chr20:36758762 [GRCh37]
Chr20:20q11.23
benign
NM_004613.4(TGM2):c.1539C>T (p.Thr513=) single nucleotide variant not provided [RCV000891641] Chr20:38138189 [GRCh38]
Chr20:36766591 [GRCh37]
Chr20:20q11.23
likely benign
NM_004613.4(TGM2):c.846C>T (p.Ala282=) single nucleotide variant not provided [RCV000959967] Chr20:38146730 [GRCh38]
Chr20:36775132 [GRCh37]
Chr20:20q11.23
benign
NM_004613.4(TGM2):c.1130G>A (p.Arg377His) single nucleotide variant not provided [RCV000962809] Chr20:38139624 [GRCh38]
Chr20:36768026 [GRCh37]
Chr20:20q11.23
benign
NM_004613.4(TGM2):c.213C>T (p.Ala71=) single nucleotide variant not provided [RCV000910528] Chr20:38156067 [GRCh38]
Chr20:36784469 [GRCh37]
Chr20:20q11.23
benign
NM_004613.4(TGM2):c.1624G>T (p.Val542Phe) single nucleotide variant not provided [RCV000885934] Chr20:38132492 [GRCh38]
Chr20:36760894 [GRCh37]
Chr20:20q11.23
benign
NM_004613.4(TGM2):c.433+3G>A single nucleotide variant not provided [RCV000950021] Chr20:38155844 [GRCh38]
Chr20:36784246 [GRCh37]
Chr20:20q11.23
likely benign
NM_004613.4(TGM2):c.1302C>T (p.Asp434=) single nucleotide variant not provided [RCV000907967] Chr20:38139452 [GRCh38]
Chr20:36767854 [GRCh37]
Chr20:20q11.23
likely benign
NM_004613.4(TGM2):c.735C>T (p.Tyr245=) single nucleotide variant not provided [RCV000978463] Chr20:38146841 [GRCh38]
Chr20:36775243 [GRCh37]
Chr20:20q11.23
benign
NM_004613.4(TGM2):c.1035G>A (p.Pro345=) single nucleotide variant not provided [RCV000921115] Chr20:38141346 [GRCh38]
Chr20:36769748 [GRCh37]
Chr20:20q11.23
likely benign
NM_004613.4(TGM2):c.2058C>T (p.Pro686=) single nucleotide variant not provided [RCV000910883] Chr20:38130225 [GRCh38]
Chr20:36758627 [GRCh37]
Chr20:20q11.23
likely benign
NM_004613.4(TGM2):c.84G>A (p.Arg28=) single nucleotide variant not provided [RCV000896061] Chr20:38161526 [GRCh38]
Chr20:36789928 [GRCh37]
Chr20:20q11.23
benign
NM_004613.4(TGM2):c.1347C>A (p.Ser449=) single nucleotide variant not provided [RCV000943509] Chr20:38138381 [GRCh38]
Chr20:36766783 [GRCh37]
Chr20:20q11.23
likely benign
NM_004613.4(TGM2):c.915T>C (p.His305=) single nucleotide variant not provided [RCV000913275] Chr20:38142144 [GRCh38]
Chr20:36770546 [GRCh37]
Chr20:20q11.23
likely benign
NM_004613.4(TGM2):c.978C>T (p.Asp326=) single nucleotide variant not provided [RCV000958066] Chr20:38142081 [GRCh38]
Chr20:36770483 [GRCh37]
Chr20:20q11.23
benign
NM_004613.4(TGM2):c.1039C>T (p.Leu347=) single nucleotide variant not provided [RCV000911521] Chr20:38141342 [GRCh38]
Chr20:36769744 [GRCh37]
Chr20:20q11.23
likely benign
NM_004613.4(TGM2):c.303G>A (p.Ser101=) single nucleotide variant not provided [RCV000911620] Chr20:38155977 [GRCh38]
Chr20:36784379 [GRCh37]
Chr20:20q11.23
likely benign
NM_004613.4(TGM2):c.1968G>A (p.Pro656=) single nucleotide variant not provided [RCV000912882] Chr20:38130315 [GRCh38]
Chr20:36758717 [GRCh37]
Chr20:20q11.23
likely benign
Single allele deletion Focal seizures [RCV001004039] Chr20:34980430..46806549 [GRCh37]
Chr20:20q11.23-13.13
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11778 AgrOrtholog
COSMIC TGM2 COSMIC
Ensembl Genes ENSG00000198959 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000355330 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000362502 UniProtKB/TrEMBL
  ENSP00000387642 UniProtKB/TrEMBL
Ensembl Transcript ENST00000361475 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000373403 UniProtKB/TrEMBL
  ENST00000453095 UniProtKB/TrEMBL
  ENST00000468262 ENTREZGENE
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.90.260.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000198959 GTEx
HGNC ID HGNC:11778 ENTREZGENE
Human Proteome Map TGM2 Human Proteome Map
InterPro Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_E-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Papain-like_cys_pep_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Transglutaminase-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Transglutaminase-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Transglutaminase_animal UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Transglutaminase_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Transglutaminase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Transglutaminase_C_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Transglutaminase_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:7052 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 7052 ENTREZGENE
OMIM 190196 OMIM
Pfam Transglut_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Transglut_core UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Transglut_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA36491 PharmGKB
PIRSF TGM_EBP42 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE TRANSGLUTAMINASES UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART TGc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49309 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF54001 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF81296 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A2A299_HUMAN UniProtKB/TrEMBL
  A2A2A0_HUMAN UniProtKB/TrEMBL
  B4DIT7 ENTREZGENE, UniProtKB/TrEMBL
  B4DTN7 ENTREZGENE, UniProtKB/TrEMBL
  P21980 ENTREZGENE
  Q6DKH2_HUMAN UniProtKB/TrEMBL
  Q9BXQ0_HUMAN UniProtKB/TrEMBL
  TGM2_HUMAN UniProtKB/Swiss-Prot
  V9HWG3 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary E1P5V9 UniProtKB/Swiss-Prot
  Q16436 UniProtKB/Swiss-Prot
  Q6B838 UniProtKB/Swiss-Prot
  Q9BTN7 UniProtKB/Swiss-Prot
  Q9H035 UniProtKB/Swiss-Prot
  Q9UH35 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2013-07-30 TGM2  transglutaminase 2    transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase)  Symbol and/or name change 5135510 APPROVED
2011-08-16 TGM2  transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase)  TGM2  transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase)  Symbol and/or name change 5135510 APPROVED