TDO2 (tryptophan 2,3-dioxygenase) - Rat Genome Database
Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Gene: TDO2 (tryptophan 2,3-dioxygenase) Homo sapiens
Analyze
Symbol: TDO2
Name: tryptophan 2,3-dioxygenase
RGD ID: 68531
HGNC Page HGNC
Description: Exhibits 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 localize to cytosol. Implicated in Gilles de la Tourette syndrome and familial hypertryptophanemia.
Type: protein-coding
RefSeq Status: REVIEWED
Also 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
GRCh38.p13 Ensembl4155,854,738 - 155,920,406 (+)EnsemblGRCh38hg38GRCh38
GRCh384155,903,696 - 155,920,406 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh374156,824,845 - 156,841,558 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 364157,044,297 - 157,061,000 (+)NCBINCBI36hg18NCBI36
Build 344157,182,451 - 157,199,155NCBI
Celera4154,156,425 - 154,173,133 (+)NCBI
Cytogenetic Map4q32.1NCBI
HuRef4152,563,673 - 152,580,472 (+)NCBIHuRef
CHM1_14156,802,468 - 156,819,210 (+)NCBICHM1_1
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)
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)
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)
atrazine  (ISO)
benzo[a]pyrene  (EXP,ISO)
beta-naphthoflavone  (ISO)
bisphenol A  (ISO)
bisphenol F  (ISO)
buspirone  (ISO)
buta-1,3-diene  (ISO)
caffeine  (ISO)
carbaryl  (ISO)
chloroprene  (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)
lead diacetate  (EXP)
lipopolysaccharide  (EXP,ISO)
melatonin  (ISO)
metformin  (EXP)
methapyrilene  (ISO)
N-nitrosodiethylamine  (ISO)
N-Nitrosopyrrolidine  (EXP)
NADP zwitterion  (ISO)
NADP(+)  (ISO)
nickel atom  (EXP)
nitroglycerin  (ISO)
O-methyleugenol  (EXP)
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)
tolmetin  (ISO)
triclosan  (EXP)
valproic acid  (EXP)
XL147  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytosol  (TAS)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

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:32296183   PMID:32776284   PMID:32814053  


Genomics

Comparative Map Data
TDO2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl4155,854,738 - 155,920,406 (+)EnsemblGRCh38hg38GRCh38
GRCh384155,903,696 - 155,920,406 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh374156,824,845 - 156,841,558 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 364157,044,297 - 157,061,000 (+)NCBINCBI36hg18NCBI36
Build 344157,182,451 - 157,199,155NCBI
Celera4154,156,425 - 154,173,133 (+)NCBI
Cytogenetic Map4q32.1NCBI
HuRef4152,563,673 - 152,580,472 (+)NCBIHuRef
CHM1_14156,802,468 - 156,819,210 (+)NCBICHM1_1
Tdo2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39381,865,719 - 81,883,035 (-)NCBIGRCm39mm39
GRCm38381,958,412 - 81,975,728 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl381,957,090 - 81,976,202 (-)EnsemblGRCm38mm10GRCm38
MGSCv37381,762,334 - 81,779,650 (-)NCBIGRCm37mm9NCBIm37
MGSCv36382,044,339 - 82,061,655 (-)NCBImm8
Celera381,983,687 - 82,001,014 (-)NCBICelera
Cytogenetic Map3E3NCBI
Tdo2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
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 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.12173,544,125 - 173,561,939 (-)NCBI
Celera2161,299,362 - 161,317,278 (-)NCBICelera
Cytogenetic Map2q34NCBI
RH 3.4 Map21078.8RGD
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_v0panPan3
TDO2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl1553,405,957 - 53,423,958 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.11553,406,110 - 53,424,260 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Tdo2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
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 - 44,740,980 (+)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 - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.17102,467,075 - 102,485,434 (+)NCBI
ChlSab1.1 Ensembl7102,467,640 - 102,485,394 (+)Ensembl
Tdo2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248482,380,827 - 2,395,807 (-)NCBI

Position Markers
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

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.


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
Sequence:
Reference Sequences
RefSeq Acc Id: NP_005642   ⟸   NM_005651
- UniProtKB: P48775 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000423394   ⟸   ENST00000506072
RefSeq Acc Id: ENSP00000424384   ⟸   ENST00000507590
RefSeq Acc Id: ENSP00000444788   ⟸   ENST00000536354

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

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 Abnormality of esophagus morphology [RCV000416689] Chr4:156745682..157287454 [GRCh37]
Chr4:4q32.1
likely benign
NM_005651.4(TDO2):c.491dup (p.Ile165fs) duplication Hypertryptophanemia, familial [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 Hypertryptophanemia, familial [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 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

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 UniProtKB/TrEMBL
  ENSP00000424384 UniProtKB/TrEMBL
  ENSP00000444788 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000460086 UniProtKB/Swiss-Prot
  ENSP00000461272 UniProtKB/TrEMBL
  ENSP00000461534 UniProtKB/TrEMBL
Ensembl Transcript ENST00000506072 UniProtKB/TrEMBL
  ENST00000507590 UniProtKB/TrEMBL
  ENST00000536354 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000573403 UniProtKB/Swiss-Prot
  ENST00000573644 UniProtKB/TrEMBL
  ENST00000574434 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
UniGene Hs.183671 ENTREZGENE
  Hs.593955 ENTREZGENE
UniProt D6RA50_HUMAN UniProtKB/TrEMBL
  D6RB68_HUMAN UniProtKB/TrEMBL
  P48775 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A8K053 UniProtKB/Swiss-Prot