TDO2 (tryptophan 2,3-dioxygenase) - Rat Genome Database

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Gene: TDO2 (tryptophan 2,3-dioxygenase) Homo sapiens
Analyze
Symbol: TDO2
Name: tryptophan 2,3-dioxygenase
RGD ID: 68531
HGNC Page HGNC:11708
Description: Enables heme binding activity; identical protein binding activity; and tryptophan 2,3-dioxygenase activity. Involved in protein homotetramerization and tryptophan catabolic process to kynurenine. Predicted to be located in cytosol. Implicated in Gilles de la Tourette syndrome and familial hypertryptophanemia.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: HYPTRP; TDO; TO; TPH2; TRPO; tryptamin 2,3-dioxygenase; tryptophan oxygenase; tryptophan pyrrolase; tryptophanase
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
GRCh384155,903,696 - 155,920,406 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl4155,854,738 - 155,920,406 (+)EnsemblGRCh38hg38GRCh38
GRCh374156,824,848 - 156,841,558 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 364157,044,297 - 157,061,000 (+)NCBINCBI36Build 36hg18NCBI36
Build 344157,182,451 - 157,199,155NCBI
Celera4154,156,425 - 154,173,133 (+)NCBICelera
Cytogenetic Map4q32.1NCBI
HuRef4152,563,673 - 152,580,472 (+)NCBIHuRef
CHM1_14156,802,468 - 156,819,210 (+)NCBICHM1_1
T2T-CHM13v2.04159,236,403 - 159,253,174 (+)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
(-)-demecolcine  (EXP)
(5-hydroxyindol-3-yl)acetic acid  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,6-di-tert-butyl-4-methylphenol  (ISO)
3',5'-cyclic AMP  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (EXP)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
680C91  (ISO)
acetamide  (ISO)
actinomycin D  (ISO)
acyclovir  (ISO)
aflatoxin B1  (EXP,ISO)
allopurinol  (ISO)
amiodarone  (EXP)
ammonium chloride  (ISO)
andrographolide  (ISO)
anthranilic acid  (ISO)
atrazine  (ISO)
benzo[a]pyrene  (EXP,ISO)
beta-naphthoflavone  (ISO)
bisphenol A  (ISO)
bisphenol F  (ISO)
buspirone  (ISO)
buta-1,3-diene  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (ISO)
caffeine  (EXP,ISO)
carbaryl  (ISO)
CGP 52608  (EXP)
chloroprene  (ISO)
chlorpyrifos  (ISO)
ciguatoxin CTX1B  (ISO)
cisplatin  (ISO)
clofibrate  (ISO)
corticosterone  (ISO)
cyclosporin A  (EXP,ISO)
cylindrospermopsin  (EXP)
dexamethasone  (EXP,ISO)
dimethoate  (ISO)
dioxygen  (EXP)
dopamine  (ISO)
dorsomorphin  (EXP)
endosulfan  (ISO)
ethanol  (ISO)
fenofibrate  (EXP)
ferroheme b  (ISO)
flutamide  (ISO)
folic acid  (ISO)
fumonisin B1  (ISO)
genistein  (ISO)
gold atom  (EXP)
gold(0)  (EXP)
heme b  (ISO)
Heptachlor epoxide  (ISO)
kynurenine  (ISO)
L-tryptophan  (ISO)
lead diacetate  (EXP)
lipopolysaccharide  (EXP,ISO)
medroxyprogesterone acetate  (EXP)
melatonin  (ISO)
metformin  (EXP)
methapyrilene  (ISO)
methidathion  (ISO)
N-nitrosodiethylamine  (ISO)
N-Nitrosopyrrolidine  (EXP)
NADP zwitterion  (ISO)
NADP(+)  (ISO)
nickel atom  (EXP)
nitroglycerin  (ISO)
O-methyleugenol  (EXP)
ozone  (ISO)
p-chloromercuribenzoic acid  (EXP)
paracetamol  (ISO)
perfluorooctane-1-sulfonic acid  (EXP)
permethrin  (ISO)
pioglitazone  (ISO)
pirinixic acid  (ISO)
potassium dichromate  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (EXP)
propanal  (EXP)
propiconazole  (ISO)
pyridine  (ISO)
resveratrol  (EXP)
rotenone  (ISO)
SB 431542  (EXP)
serotonin  (ISO)
sevoflurane  (ISO)
sodium arsenite  (EXP)
succimer  (EXP)
sulfasalazine  (EXP)
sulindac  (ISO)
tauroursodeoxycholic acid  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
tolmetin  (ISO)
triclosan  (EXP)
valproic acid  (EXP)
XL147  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytosol  (TAS)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Aryl hydrocarbon receptor control of a disease tolerance defence pathway. Bessede A, etal., Nature. 2014 Jul 10;511(7508):184-90. doi: 10.1038/nature13323.
2. Exon and intron variants in the human tryptophan 2,3-dioxygenase gene: potential association with Tourette syndrome, substance abuse and other disorders. Comings DE, etal., Pharmacogenetics 1996 Aug;6(4):307-18.
3. Comparative effects of oxygen on indoleamine 2,3-dioxygenase and tryptophan 2,3-dioxygenase of the kynurenine pathway. Dang Y, etal., Free Radic Biol Med. 2000 Feb 15;28(4):615-24.
4. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
5. The kynurenine pathway and neurodegenerative disease. Maddison DC and Giorgini F, Semin Cell Dev Biol. 2015 Apr;40:134-41. doi: 10.1016/j.semcdb.2015.03.002. Epub 2015 Mar 12.
6. Enzymatic studies on tryptophan metabolism disorder in rats chronically exposed to carbon disulfide. Okayama A, etal., Toxicol Appl Pharmacol. 1988 Jul;94(3):356-61.
7. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
8. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
9. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
10. The metabolism of L-tryptophan by isolated rat liver cells. Quantification of the relative importance of, and the effect of nutritional status on, the individual pathways of tryptophan metabolism. Smith SA, etal., Biochem J. 1980 Nov 15;192(2):673-86.
11. Cyclooxygenase inhibition targets neurons to prevent early behavioural decline in Alzheimer's disease model mice. Woodling NS, etal., Brain. 2016 Jul;139(Pt 7):2063-81. doi: 10.1093/brain/aww117. Epub 2016 May 13.
12. TDO as a therapeutic target in brain diseases. Yu CP, etal., Metab Brain Dis. 2016 Apr 13.
Additional References at PubMed
PMID:2004780   PMID:8666386   PMID:11140838   PMID:11469796   PMID:12477932   PMID:12634647   PMID:14704851   PMID:14755447   PMID:15390107   PMID:15489334   PMID:16094384   PMID:16189514  
PMID:16892178   PMID:17207965   PMID:18370401   PMID:19218188   PMID:19502010   PMID:19637229   PMID:19786962   PMID:20361220   PMID:21361337   PMID:21873635   PMID:21892828   PMID:21976023  
PMID:22082147   PMID:22308364   PMID:23455924   PMID:23558111   PMID:23630570   PMID:24623722   PMID:24722188   PMID:24816252   PMID:24974860   PMID:25066423   PMID:25416956   PMID:25910212  
PMID:27107014   PMID:27563172   PMID:27578919   PMID:27762317   PMID:28223212   PMID:28285122   PMID:28514442   PMID:29676849   PMID:30134247   PMID:31515488   PMID:31806639   PMID:31866995  
PMID:32165090   PMID:32296044   PMID:32296183   PMID:32776284   PMID:32814053   PMID:33846800   PMID:33961781   PMID:34051337   PMID:34101386   PMID:34423034   PMID:34520819   PMID:34702444  
PMID:34714577   PMID:34943977   PMID:34969166   PMID:35056756   PMID:35733134   PMID:35970080  


Genomics

Comparative Map Data
TDO2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh384155,903,696 - 155,920,406 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl4155,854,738 - 155,920,406 (+)EnsemblGRCh38hg38GRCh38
GRCh374156,824,848 - 156,841,558 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 364157,044,297 - 157,061,000 (+)NCBINCBI36Build 36hg18NCBI36
Build 344157,182,451 - 157,199,155NCBI
Celera4154,156,425 - 154,173,133 (+)NCBICelera
Cytogenetic Map4q32.1NCBI
HuRef4152,563,673 - 152,580,472 (+)NCBIHuRef
CHM1_14156,802,468 - 156,819,210 (+)NCBICHM1_1
T2T-CHM13v2.04159,236,403 - 159,253,174 (+)NCBIT2T-CHM13v2.0
Tdo2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39381,865,719 - 81,883,035 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl381,864,397 - 81,883,509 (-)EnsemblGRCm39 Ensembl
GRCm38381,958,412 - 81,975,728 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl381,957,090 - 81,976,202 (-)EnsemblGRCm38mm10GRCm38
MGSCv37381,762,334 - 81,779,650 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36382,044,339 - 82,061,655 (-)NCBIMGSCv36mm8
Celera381,983,687 - 82,001,014 (-)NCBICelera
Cytogenetic Map3E3NCBI
Tdo2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.22167,269,581 - 167,287,511 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2167,269,579 - 167,287,511 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2174,475,769 - 174,493,750 (-)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.02172,497,005 - 172,514,990 (-)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.02167,083,123 - 167,101,045 (-)NCBIRnor_WKY
Rnor_6.02180,897,059 - 180,914,919 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2180,897,011 - 180,914,940 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02200,305,349 - 200,323,296 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42173,594,020 - 173,611,833 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12173,544,125 - 173,561,939 (-)NCBI
Celera2161,299,362 - 161,317,278 (-)NCBICelera
RH 3.4 Map21078.8RGD
Cytogenetic Map2q34NCBI
Tdo2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495547111,229,273 - 11,245,375 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495547111,229,795 - 11,245,255 (-)NCBIChiLan1.0ChiLan1.0
TDO2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.14160,085,840 - 160,102,266 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl4160,085,645 - 160,102,266 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v04148,269,097 - 148,285,533 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
TDO2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11553,406,110 - 53,424,260 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1553,405,957 - 53,423,958 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1553,741,684 - 53,760,577 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01554,113,213 - 54,132,114 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1554,113,237 - 54,131,283 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11553,366,630 - 53,385,412 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01553,475,754 - 53,494,647 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01553,790,005 - 53,808,893 (+)NCBIUU_Cfam_GSD_1.0
Tdo2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530136,991,004 - 37,015,635 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365762,537,702 - 2,555,785 (+)EnsemblSpeTri2.0
SpeTri2.0NW_0049365762,537,702 - 2,555,790 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TDO2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl844,708,746 - 44,740,962 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1844,708,722 - 44,725,954 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2846,704,213 - 46,721,456 (+)NCBISscrofa10.2Sscrofa10.2susScr3
TDO2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.17102,467,075 - 102,485,434 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl7102,467,640 - 102,485,394 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603782,125,379 - 82,143,064 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tdo2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248482,380,670 - 2,396,314 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248482,380,827 - 2,395,807 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TDO2
3 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3 copy number gain See cases [RCV000051785] Chr4:118065569..190042639 [GRCh38]
Chr4:118986724..190828225 [GRCh37]
Chr4:119206172..191200788 [NCBI36]
Chr4:4q26-35.2
pathogenic
GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3 copy number gain See cases [RCV000051786] Chr4:121518223..190062270 [GRCh38]
Chr4:122439378..190828225 [GRCh37]
Chr4:122658828..191220419 [NCBI36]
Chr4:4q27-35.2
pathogenic
GRCh38/hg38 4q31.22-34.1(chr4:147317283-173675559)x3 copy number gain See cases [RCV000051788] Chr4:147317283..173675559 [GRCh38]
Chr4:148238435..174596710 [GRCh37]
Chr4:148457885..174833285 [NCBI36]
Chr4:4q31.22-34.1
pathogenic
GRCh38/hg38 4q31.23-35.2(chr4:148356485-189548183)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051789]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051789]|See cases [RCV000051789] Chr4:148356485..189548183 [GRCh38]
Chr4:149277637..190469337 [GRCh37]
Chr4:149497087..190706331 [NCBI36]
Chr4:4q31.23-35.2
pathogenic
GRCh38/hg38 4q22.2-32.3(chr4:92913386-165299707)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|See cases [RCV000051775] Chr4:92913386..165299707 [GRCh38]
Chr4:93834537..166220859 [GRCh37]
Chr4:94053560..166440309 [NCBI36]
Chr4:4q22.2-32.3
pathogenic
GRCh38/hg38 4q32.1(chr4:155605468-156026047)x1 copy number loss See cases [RCV000054075] Chr4:155605468..156026047 [GRCh38]
Chr4:156526620..156947199 [GRCh37]
Chr4:156746070..157166649 [NCBI36]
Chr4:4q32.1
uncertain significance
GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3 copy number gain See cases [RCV000135845] Chr4:145042668..189975519 [GRCh38]
Chr4:145963820..190828225 [GRCh37]
Chr4:146183270..191133668 [NCBI36]
Chr4:4q31.21-35.2
pathogenic
GRCh38/hg38 4q31.3-32.1(chr4:151299810-160314050)x1 copy number loss See cases [RCV000135696] Chr4:151299810..160314050 [GRCh38]
Chr4:152220962..161235202 [GRCh37]
Chr4:152440412..161454652 [NCBI36]
Chr4:4q31.3-32.1
likely pathogenic
GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3 copy number gain See cases [RCV000136810] Chr4:138510532..189963195 [GRCh38]
Chr4:139431686..190828225 [GRCh37]
Chr4:139651136..191121344 [NCBI36]
Chr4:4q31.1-35.2
pathogenic
GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3 copy number gain See cases [RCV000137721] Chr4:131985253..190095391 [GRCh38]
Chr4:132906408..190828225 [GRCh37]
Chr4:133125858..191250527 [NCBI36]
Chr4:4q28.3-35.2
pathogenic|likely benign
GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3 copy number gain See cases [RCV000138578] Chr4:125432943..185761887 [GRCh38]
Chr4:126354098..186683041 [GRCh37]
Chr4:126573548..186920035 [NCBI36]
Chr4:4q28.1-35.1
pathogenic|likely benign
GRCh38/hg38 4q32.1-33(chr4:155162982-170959553)x1 copy number loss See cases [RCV000141861] Chr4:155162982..170959553 [GRCh38]
Chr4:156084134..171880704 [GRCh37]
Chr4:156303584..172117279 [NCBI36]
Chr4:4q32.1-33
pathogenic
GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3 copy number gain See cases [RCV000143559] Chr4:134935616..190036318 [GRCh38]
Chr4:135856771..190957473 [GRCh37]
Chr4:136076221..191194467 [NCBI36]
Chr4:4q28.3-35.2
pathogenic
GRCh37/hg19 4q28.3-35.1(chr4:136912336-184253252)x3 copy number gain See cases [RCV000240245] Chr4:136912336..184253252 [GRCh37]
Chr4:4q28.3-35.1
pathogenic
GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3 copy number gain See cases [RCV000240392] Chr4:119437495..190904301 [GRCh37]
Chr4:4q26-35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q32.1(chr4:156496866-156956631)x1 copy number loss See cases [RCV000448910] Chr4:156496866..156956631 [GRCh37]
Chr4:4q32.1
uncertain significance
GRCh37/hg19 4q32.1(chr4:156745682-157287454) copy number gain Abnormal esophagus morphology [RCV000416689] Chr4:156745682..157287454 [GRCh37]
Chr4:4q32.1
likely benign
NM_005651.4(TDO2):c.491dup (p.Ile165fs) duplication Familial hypertryptophanemia [RCV000509047] Chr4:155910082..155910083 [GRCh38]
Chr4:156831234..156831235 [GRCh37]
Chr4:4q32.1
pathogenic
NM_005651.4(TDO2):c.324G>C (p.Met108Ile) single nucleotide variant Familial hypertryptophanemia [RCV000509051] Chr4:155908907 [GRCh38]
Chr4:156830059 [GRCh37]
Chr4:4q32.1
pathogenic
GRCh37/hg19 4q31.3-35.2(chr4:153890440-190957473)x3 copy number gain See cases [RCV000510713] Chr4:153890440..190957473 [GRCh37]
Chr4:4q31.3-35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q31.3-32.2(chr4:153203431-162912359)x1 copy number loss See cases [RCV000511404] Chr4:153203431..162912359 [GRCh37]
Chr4:4q31.3-32.2
pathogenic
GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3 copy number gain See cases [RCV000511945] Chr4:109199664..189752726 [GRCh37]
Chr4:4q25-35.2
pathogenic
GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3 copy number gain See cases [RCV000510970] Chr4:93071152..190957473 [GRCh37]
Chr4:4q22.1-35.2
pathogenic
GRCh37/hg19 4q32.1-35.2(chr4:156465633-190957473)x3 copy number gain See cases [RCV000512542] Chr4:156465633..190957473 [GRCh37]
Chr4:4q32.1-35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q31.3-32.1(chr4:154763131-158404825)x1 copy number loss not provided [RCV000682474] Chr4:154763131..158404825 [GRCh37]
Chr4:4q31.3-32.1
likely pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q32.1(chr4:156509941-156955213)x1 copy number loss not provided [RCV000744067] Chr4:156509941..156955213 [GRCh37]
Chr4:4q32.1
benign
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
NM_005651.4(TDO2):c.355T>C (p.Ser119Pro) single nucleotide variant not provided [RCV000964924] Chr4:155908938 [GRCh38]
Chr4:156830090 [GRCh37]
Chr4:4q32.1
benign
GRCh37/hg19 4q32.1(chr4:156496866-156952792)x1 copy number loss not provided [RCV000849517] Chr4:156496866..156952792 [GRCh37]
Chr4:4q32.1
uncertain significance
GRCh37/hg19 4q31.3-32.1(chr4:154907679-159012980)x1 copy number loss not provided [RCV000848578] Chr4:154907679..159012980 [GRCh37]
Chr4:4q31.3-32.1
uncertain significance
GRCh37/hg19 4q32.1(chr4:156578400-158404825)x1 copy number loss not provided [RCV001005608] Chr4:156578400..158404825 [GRCh37]
Chr4:4q32.1
uncertain significance
GRCh37/hg19 4q28.1-35.1(chr4:124873497-185278662)x3 copy number gain not provided [RCV000849686] Chr4:124873497..185278662 [GRCh37]
Chr4:4q28.1-35.1
pathogenic
GRCh37/hg19 4q31.3-35.2(chr4:151174061-190957473)x3 copy number gain not provided [RCV000849098] Chr4:151174061..190957473 [GRCh37]
Chr4:4q31.3-35.2
pathogenic
GRCh37/hg19 4q32.1(chr4:156610216-156842193)x3 copy number gain not provided [RCV000846404] Chr4:156610216..156842193 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_005651.4(TDO2):c.918G>A (p.Val306=) single nucleotide variant not provided [RCV000888977] Chr4:155917416 [GRCh38]
Chr4:156838568 [GRCh37]
Chr4:4q32.1
benign
GRCh37/hg19 4q32.1(chr4:156496867-156951937)x1 copy number loss not provided [RCV002472785] Chr4:156496867..156951937 [GRCh37]
Chr4:4q32.1
uncertain significance
GRCh37/hg19 4q31.3-32.1(chr4:153061243-157994448)x1 copy number loss not provided [RCV001005606] Chr4:153061243..157994448 [GRCh37]
Chr4:4q31.3-32.1
likely pathogenic
GRCh37/hg19 4q28.3-32.3(chr4:131303317-168722402)x3 copy number gain not provided [RCV001537926] Chr4:131303317..168722402 [GRCh37]
Chr4:4q28.3-32.3
pathogenic
GRCh37/hg19 4q32.1(chr4:156496866-156956631) copy number loss not specified [RCV002053464] Chr4:156496866..156956631 [GRCh37]
Chr4:4q32.1
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:698
Count of miRNA genes:478
Interacting mature miRNAs:517
Transcripts:ENST00000503634, ENST00000506072, ENST00000506181, ENST00000507590, ENST00000509738, ENST00000510293, ENST00000512584, ENST00000536354
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
D4S3293  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374156,841,384 - 156,841,525UniSTSGRCh37
Build 364157,060,834 - 157,060,975RGDNCBI36
Celera4154,172,967 - 154,173,108RGD
Cytogenetic Map4q31-q32UniSTS
HuRef4152,580,298 - 152,580,439UniSTS
A006M46  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374156,841,342 - 156,841,512UniSTSGRCh37
Build 364157,060,792 - 157,060,962RGDNCBI36
Celera4154,172,925 - 154,173,095RGD
Cytogenetic Map4q31-q32UniSTS
HuRef4152,580,256 - 152,580,426UniSTS
GeneMap99-GB4 RH Map4644.29UniSTS
NCBI RH Map41634.3UniSTS
SHGC-50178  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374156,841,301 - 156,841,410UniSTSGRCh37
Build 364157,060,751 - 157,060,860RGDNCBI36
Celera4154,172,884 - 154,172,993RGD
Cytogenetic Map4q31-q32UniSTS
HuRef4152,580,215 - 152,580,324UniSTS
TNG Radiation Hybrid Map493874.0UniSTS
TDO2_8670  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374156,840,987 - 156,841,620UniSTSGRCh37
Build 364157,060,437 - 157,061,070RGDNCBI36
Celera4154,172,570 - 154,173,203RGD
HuRef4152,579,901 - 152,580,534UniSTS


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 53 7 443 407 55 407 1 3 44 3 26 73 1
Low 673 162 539 85 495 41 165 58 972 163 246 645 49 111 64 1
Below cutoff 1325 1497 544 123 633 11 2325 1174 1844 204 975 608 116 811 1431 4

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000503634
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4155,854,738 - 155,905,156 (+)Ensembl
RefSeq Acc Id: ENST00000506072   ⟹   ENSP00000423394
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4155,854,762 - 155,910,110 (+)Ensembl
RefSeq Acc Id: ENST00000506181
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4155,854,757 - 155,865,102 (+)Ensembl
RefSeq Acc Id: ENST00000507590   ⟹   ENSP00000424384
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4155,854,771 - 155,910,062 (+)Ensembl
RefSeq Acc Id: ENST00000509738
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4155,903,693 - 155,905,794 (+)Ensembl
RefSeq Acc Id: ENST00000510293
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4155,914,341 - 155,918,859 (+)Ensembl
RefSeq Acc Id: ENST00000512584
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4155,905,820 - 155,920,398 (+)Ensembl
RefSeq Acc Id: ENST00000536354   ⟹   ENSP00000444788
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4155,903,696 - 155,920,406 (+)Ensembl
RefSeq Acc Id: NM_005651   ⟹   NP_005642
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384155,903,696 - 155,920,406 (+)NCBI
GRCh374156,824,845 - 156,841,558 (+)NCBI
Build 364157,044,297 - 157,061,000 (+)NCBI Archive
HuRef4152,563,673 - 152,580,472 (+)NCBI
CHM1_14156,802,468 - 156,819,210 (+)NCBI
T2T-CHM13v2.04159,236,403 - 159,253,174 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_005642   ⟸   NM_005651
- UniProtKB: A8K053 (UniProtKB/Swiss-Prot),   P48775 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000423394   ⟸   ENST00000506072
RefSeq Acc Id: ENSP00000424384   ⟸   ENST00000507590
RefSeq Acc Id: ENSP00000444788   ⟸   ENST00000536354

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P48775-F1-model_v2 AlphaFold P48775 1-406 view protein structure

Promoters
RGD ID:6868746
Promoter ID:EPDNEW_H7538
Type:multiple initiation site
Name:TDO2_1
Description:tryptophan 2,3-dioxygenase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7536  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh384155,903,696 - 155,903,756EPDNEW
RGD ID:6802653
Promoter ID:HG_KWN:49346
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:NM_005651
Position:
Human AssemblyChrPosition (strand)Source
Build 364157,044,081 - 157,044,581 (+)MPROMDB
RGD ID:6852562
Promoter ID:EP74093
Type:single initiation site
Name:HS_TDO2
Description:Tryptophan 2,3-dioxygenase.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 364157,044,298 - 157,044,358EPD

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11708 AgrOrtholog
COSMIC TDO2 COSMIC
Ensembl Genes ENSG00000151790 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000262635 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000423394.1 UniProtKB/TrEMBL
  ENSP00000424384.1 UniProtKB/TrEMBL
  ENSP00000444788 ENTREZGENE
  ENSP00000444788.2 UniProtKB/Swiss-Prot
  ENSP00000460086.1 UniProtKB/Swiss-Prot
  ENSP00000461272.1 UniProtKB/TrEMBL
  ENSP00000461534.1 UniProtKB/TrEMBL
Ensembl Transcript ENST00000506072.5 UniProtKB/TrEMBL
  ENST00000507590.5 UniProtKB/TrEMBL
  ENST00000536354 ENTREZGENE
  ENST00000536354.3 UniProtKB/Swiss-Prot
  ENST00000573403.1 UniProtKB/Swiss-Prot
  ENST00000573644.5 UniProtKB/TrEMBL
  ENST00000574434.5 UniProtKB/TrEMBL
GTEx ENSG00000151790 GTEx
  ENSG00000262635 GTEx
HGNC ID HGNC:11708 ENTREZGENE
Human Proteome Map TDO2 Human Proteome Map
InterPro Trp/Indoleamine_2_3_dOase-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Trp_2_3_dOase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6999 UniProtKB/Swiss-Prot
NCBI Gene 6999 ENTREZGENE
OMIM 191070 OMIM
  600627 OMIM
PANTHER PTHR10138 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Trp_dioxygenase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA36427 PharmGKB
Superfamily-SCOP SSF140959 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8K053 ENTREZGENE
  D6RA50_HUMAN UniProtKB/TrEMBL
  D6RB68_HUMAN UniProtKB/TrEMBL
  P48775 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A8K053 UniProtKB/Swiss-Prot