KYNU (kynureninase) - Rat Genome Database

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Pathways
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Gene: KYNU (kynureninase) Homo sapiens
Analyze
Symbol: KYNU
Name: kynureninase
RGD ID: 734173
HGNC Page HGNC:6469
Description: Enables 3-hydroxykynureninase activity; kynureninase activity; and protein homodimerization activity. Involved in several processes, including aromatic amino acid metabolic process; pyridine-containing compound biosynthetic process; and response to type II interferon. Located in cytosol; mitochondrion; and nucleoplasm. Implicated in hydroxykynureninuria.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: kynureninase (L-kynurenine hydrolase); KYNUU; l-kynurenine hydrolase; VCRL2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: KYNUP1   KYNUP2   KYNUP3  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382142,877,664 - 143,055,833 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2142,877,657 - 143,055,833 (+)EnsemblGRCh38hg38GRCh38
GRCh372143,635,233 - 143,813,402 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362143,351,665 - 143,516,355 (+)NCBINCBI36Build 36hg18NCBI36
Build 342143,468,950 - 143,633,606NCBI
Celera2137,347,656 - 137,512,293 (+)NCBICelera
Cytogenetic Map2q22.2NCBI
HuRef2135,626,307 - 135,791,074 (+)NCBIHuRef
CHM1_12143,640,202 - 143,804,900 (+)NCBICHM1_1
T2T-CHM13v2.02143,325,958 - 143,504,091 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(-)-demecolcine  (EXP)
(1->4)-beta-D-glucan  (ISO)
1,2-dimethylhydrazine  (ISO)
1-benzylpiperazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3-chloropropane-1,2-diol  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP,ISO)
aldehydo-D-glucose  (ISO)
all-trans-retinoic acid  (EXP)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
arsenous acid  (EXP)
atazanavir sulfate  (EXP)
azathioprine  (EXP)
benzo[a]pyrene  (EXP)
beta-naphthoflavone  (EXP,ISO)
bis(2-chloroethyl) sulfide  (EXP)
bisphenol A  (EXP,ISO)
buta-1,3-diene  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (ISO)
cantharidin  (ISO)
carbon nanotube  (ISO)
chenodeoxycholic acid  (EXP)
chloropicrin  (EXP)
cisplatin  (EXP)
clomiphene  (EXP)
cobalt dichloride  (EXP)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) sulfate  (EXP)
coumarin  (ISO)
crocidolite asbestos  (EXP,ISO)
curcumin  (EXP)
cyanocob(III)alamin  (ISO)
cyclosporin A  (EXP,ISO)
cypermethrin  (ISO)
cytarabine  (EXP)
D-glucose  (ISO)
deoxycholic acid  (EXP)
diarsenic trioxide  (EXP)
dicrotophos  (EXP)
diethylstilbestrol  (EXP)
diquat  (EXP,ISO)
dorsomorphin  (EXP)
endosulfan  (ISO)
epoxiconazole  (ISO)
estrone  (EXP)
etoposide  (EXP)
fenvalerate  (ISO)
flavonoids  (ISO)
flutamide  (ISO)
folic acid  (ISO)
fructose  (ISO)
fulvestrant  (EXP)
furan  (ISO)
gamma-linolenic acid  (EXP)
genistein  (EXP)
glafenine  (ISO)
glucose  (ISO)
glycidyl methacrylate  (EXP)
glycochenodeoxycholic acid  (EXP)
glycocholic acid  (EXP)
glycodeoxycholic acid  (EXP)
gold atom  (EXP)
gold(0)  (EXP)
GW 4064  (ISO)
hexestrol  (EXP)
hydrogen peroxide  (EXP)
indometacin  (ISO)
ivermectin  (EXP)
kynurenine  (EXP)
lamivudine  (EXP)
lipopolysaccharide  (EXP)
menadione  (EXP)
mercury dichloride  (ISO)
mestranol  (EXP)
methamphetamine  (ISO)
methapyrilene  (ISO)
methomyl  (ISO)
methylmercury chloride  (EXP)
N,N-diethyl-m-toluamide  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
nefazodone  (EXP,ISO)
nickel atom  (EXP)
nickel dichloride  (EXP)
nickel sulfate  (EXP)
nimesulide  (ISO)
nitroglycerin  (ISO)
ozone  (ISO)
p-toluidine  (ISO)
paracetamol  (EXP,ISO)
paraquat  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP,ISO)
permethrin  (ISO)
phenobarbital  (EXP,ISO)
phenylmercury acetate  (EXP)
PhIP  (ISO)
pirinixic acid  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (EXP)
resveratrol  (EXP,ISO)
rotenone  (EXP,ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
serpentine asbestos  (EXP)
silicon dioxide  (EXP)
silver atom  (EXP)
silver(0)  (EXP)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
streptozocin  (ISO)
sulforaphane  (EXP)
tamoxifen  (EXP)
temozolomide  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
triphenyl phosphate  (ISO)
troglitazone  (ISO)
urethane  (EXP)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
vinclozolin  (ISO)
vincristine  (EXP)
zidovudine  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IBA,IEA)
cytosol  (IDA,IEA,TAS)
mitochondrion  (IDA)
nucleoplasm  (IDA)

Molecular Function

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

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. 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.
3. Kynureninase is a novel candidate gene for hypertension in spontaneously hypertensive rats. Mizutan K, etal., Hypertens Res 2002 Jan;25(1):135-40.
4. 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.
5. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
6. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
7. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
8. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
9. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
10. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
11. 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.
12. Kynurenine metabolism in vitamin-B-6-deficient rat liver after tryptophan injection. Takeuchi F and Shibata Y, Biochem J. 1984 Jun 15;220(3):693-9.
13. Cloning and recombinant expression of rat and human kynureninase. Toma S, etal., FEBS Lett 1997 May 12;408(1):5-10.
Additional References at PubMed
PMID:1939450   PMID:6468727   PMID:8125298   PMID:8706755   PMID:9291104   PMID:11985583   PMID:12477932   PMID:14704851   PMID:16080802   PMID:16712791   PMID:17207965   PMID:17334708  
PMID:18029348   PMID:20379614   PMID:20877624   PMID:21873635   PMID:22012986   PMID:22658674   PMID:22863883   PMID:22939629   PMID:23503679   PMID:24667918   PMID:25343990   PMID:26344197  
PMID:26496610   PMID:26725996   PMID:28792876   PMID:30575818   PMID:31298480   PMID:31332944   PMID:31478661   PMID:32296183   PMID:32416067   PMID:32850835   PMID:33845483   PMID:33961781  
PMID:34051337   PMID:35054825   PMID:35362267   PMID:35831314   PMID:37499065  


Genomics

Comparative Map Data
KYNU
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382142,877,664 - 143,055,833 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2142,877,657 - 143,055,833 (+)EnsemblGRCh38hg38GRCh38
GRCh372143,635,233 - 143,813,402 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362143,351,665 - 143,516,355 (+)NCBINCBI36Build 36hg18NCBI36
Build 342143,468,950 - 143,633,606NCBI
Celera2137,347,656 - 137,512,293 (+)NCBICelera
Cytogenetic Map2q22.2NCBI
HuRef2135,626,307 - 135,791,074 (+)NCBIHuRef
CHM1_12143,640,202 - 143,804,900 (+)NCBICHM1_1
T2T-CHM13v2.02143,325,958 - 143,504,091 (+)NCBIT2T-CHM13v2.0
Kynu
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39243,445,270 - 43,572,734 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl243,445,341 - 43,572,734 (+)EnsemblGRCm39 Ensembl
GRCm38243,555,258 - 43,683,048 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl243,555,329 - 43,682,715 (+)EnsemblGRCm38mm10GRCm38
MGSCv37243,410,849 - 43,538,235 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36243,377,338 - 43,504,724 (+)NCBIMGSCv36mm8
Celera245,275,609 - 45,403,071 (+)NCBICelera
Cytogenetic Map2BNCBI
cM Map225.64NCBI
Kynu
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8348,188,286 - 48,338,996 (+)NCBIGRCr8
mRatBN7.2327,778,646 - 27,929,470 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl327,778,772 - 27,929,488 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx331,169,534 - 31,320,227 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0339,754,563 - 39,905,257 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0337,572,172 - 37,723,939 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0328,416,926 - 28,566,939 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl328,416,954 - 28,566,928 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0333,622,141 - 33,770,793 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4324,046,242 - 24,195,898 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1323,942,613 - 24,092,267 (+)NCBI
Celera326,096,675 - 26,244,576 (+)NCBICelera
Cytogenetic Map3q12NCBI
Kynu
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554409,420,009 - 9,536,761 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554409,420,141 - 9,536,767 (+)NCBIChiLan1.0ChiLan1.0
KYNU
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21331,861,346 - 32,151,868 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12B31,876,156 - 32,166,772 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02B16,792,401 - 16,947,766 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12B146,976,053 - 147,131,298 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B146,975,995 - 147,132,634 (+)Ensemblpanpan1.1panPan2
KYNU
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11945,022,450 - 45,150,977 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1945,022,072 - 45,149,339 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1945,274,902 - 45,404,061 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01946,479,473 - 46,607,767 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1946,479,626 - 46,607,752 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11945,139,690 - 45,268,624 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01945,269,758 - 45,399,409 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01946,664,690 - 46,794,435 (+)NCBIUU_Cfam_GSD_1.0
Kynu
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303107,812,529 - 107,984,835 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493646933,632,892 - 33,734,433 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493646933,632,885 - 33,805,158 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KYNU
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl158,850,544 - 8,982,891 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1158,847,335 - 8,982,951 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2159,760,379 - 9,821,853 (-)NCBISscrofa10.2Sscrofa10.2susScr3
KYNU
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11028,230,129 - 28,394,103 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1028,230,508 - 28,394,076 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666040171,182,800 - 171,346,370 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Kynu
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473242,627,715 - 42,753,165 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473242,627,789 - 42,751,037 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in KYNU
67 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_003937.2(KYNU):c.373+4412G>T single nucleotide variant Lung cancer [RCV000091497] Chr2:142932153 [GRCh38]
Chr2:143689722 [GRCh37]
Chr2:2q22.2		 uncertain significance
GRCh38/hg38 2q22.1-22.3(chr2:140186521-146528244)x1 copy number loss See cases [RCV000051018] Chr2:140186521..146528244 [GRCh38]
Chr2:140944090..147285812 [GRCh37]
Chr2:140660560..147002282 [NCBI36]
Chr2:2q22.1-22.3		 pathogenic
GRCh38/hg38 2q22.2-22.3(chr2:141666537-147845662)x1 copy number loss See cases [RCV000054086] Chr2:141666537..147845662 [GRCh38]
Chr2:142424106..148603231 [GRCh37]
Chr2:142140576..148319701 [NCBI36]
Chr2:2q22.2-22.3		 pathogenic
NM_003937.2(KYNU):c.169+1G>A single nucleotide variant Malignant melanoma [RCV000060344] Chr2:142885537 [GRCh38]
Chr2:143643106 [GRCh37]
Chr2:143359576 [NCBI36]
Chr2:2q22.2		 not provided
NM_003937.3(KYNU):c.592A>G (p.Thr198Ala) single nucleotide variant Hydroxykynureninuria [RCV000148021] Chr2:142960633 [GRCh38]
Chr2:143718202 [GRCh37]
Chr2:2q22.2		 pathogenic|likely pathogenic|not provided
NM_003937.3(KYNU):c.563G>A (p.Arg188Gln) single nucleotide variant Vertebral, cardiac, renal, and limb defects syndrome 2 [RCV003387772]|not provided [RCV000148022] Chr2:142957696 [GRCh38]
Chr2:143715265 [GRCh37]
Chr2:2q22.2		 uncertain significance|not provided
GRCh38/hg38 2q22.1-22.3(chr2:136937358-146681810)x1 copy number loss See cases [RCV000137506] Chr2:136937358..146681810 [GRCh38]
Chr2:137694928..147439378 [GRCh37]
Chr2:137411398..147155848 [NCBI36]
Chr2:2q22.1-22.3		 pathogenic
GRCh38/hg38 2q22.1-22.2(chr2:140659197-142948096)x3 copy number gain See cases [RCV000137664] Chr2:140659197..142948096 [GRCh38]
Chr2:141416766..143705665 [GRCh37]
Chr2:141133236..143422135 [NCBI36]
Chr2:2q22.1-22.2		 uncertain significance
GRCh38/hg38 2q22.2(chr2:142197989-143208649)x3 copy number gain See cases [RCV000143645] Chr2:142197989..143208649 [GRCh38]
Chr2:142955558..143966218 [GRCh37]
Chr2:142672028..143682688 [NCBI36]
Chr2:2q22.2		 likely benign|uncertain significance
GRCh37/hg19 2q22.1-22.3(chr2:138578298-144874187)x1 copy number loss See cases [RCV000449099] Chr2:138578298..144874187 [GRCh37]
Chr2:2q22.1-22.3		 likely pathogenic
Single allele duplication MBD5 associated neurodevelopmental disorder [RCV000454618] Chr2:140621941..149324662 [GRCh37]
Chr2:2q22.1-23.1		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_003937.3(KYNU):c.468T>A (p.Tyr156Ter) single nucleotide variant Congenital NAD deficiency disorder [RCV000496184]|Vertebral, cardiac, renal, and limb defects syndrome 2 [RCV000505808]|not provided [RCV000522905] Chr2:142956235 [GRCh38]
Chr2:143713804 [GRCh37]
Chr2:2q22.2		 pathogenic|likely pathogenic
NM_003937.3(KYNU):c.1045_1051del (p.Phe349fs) deletion Congenital NAD deficiency disorder [RCV000496114]|Vertebral, cardiac, renal, and limb defects syndrome 2 [RCV000505812]|not provided [RCV000520521] Chr2:143040430..143040436 [GRCh38]
Chr2:143797999..143798005 [GRCh37]
Chr2:2q22.2		 pathogenic|likely pathogenic
NM_003937.3(KYNU):c.170-1G>T single nucleotide variant Congenital NAD deficiency disorder [RCV000496147]|Vertebral, cardiac, renal, and limb defects syndrome 2 [RCV000505804] Chr2:142918608 [GRCh38]
Chr2:143676177 [GRCh37]
Chr2:2q22.2		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_003937.3(KYNU):c.1073G>A (p.Arg358Gln) single nucleotide variant Inborn genetic diseases [RCV003283816] Chr2:143040459 [GRCh38]
Chr2:143798028 [GRCh37]
Chr2:2q22.2		 uncertain significance
GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626436] Chr2:104172062..168223828 [GRCh37]
Chr2:2q12.1-24.3		 drug response
Single allele deletion not provided [RCV000714264] Chr2:40608411..146900718 [GRCh37]
Chr2:2p22.1-q22.3		 likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_003937.3(KYNU):c.759T>C (p.His253=) single nucleotide variant not provided [RCV000894540] Chr2:142985113 [GRCh38]
Chr2:143742682 [GRCh37]
Chr2:2q22.2		 benign
NM_003937.3(KYNU):c.303T>C (p.Gly101=) single nucleotide variant not provided [RCV000894981] Chr2:142927671 [GRCh38]
Chr2:143685240 [GRCh37]
Chr2:2q22.2		 likely benign
NM_003937.3(KYNU):c.585G>A (p.Gly195=) single nucleotide variant not provided [RCV000883675] Chr2:142960626 [GRCh38]
Chr2:143718195 [GRCh37]
Chr2:2q22.2		 benign
NM_003937.3(KYNU):c.732T>C (p.Gly244=) single nucleotide variant not provided [RCV000915143] Chr2:142985086 [GRCh38]
Chr2:143742655 [GRCh37]
Chr2:2q22.2		 likely benign
NM_003937.3(KYNU):c.291-7A>G single nucleotide variant not provided [RCV000904248]|not specified [RCV003479242] Chr2:142927652 [GRCh38]
Chr2:143685221 [GRCh37]
Chr2:2q22.2		 likely benign|uncertain significance
NM_003937.3(KYNU):c.74C>T (p.Thr25Met) single nucleotide variant not provided [RCV000972582] Chr2:142885441 [GRCh38]
Chr2:143643010 [GRCh37]
Chr2:2q22.2		 benign
NM_003937.3(KYNU):c.123C>T (p.His41=) single nucleotide variant not provided [RCV000966826] Chr2:142885490 [GRCh38]
Chr2:143643059 [GRCh37]
Chr2:2q22.2		 benign
NM_003937.3(KYNU):c.729+9G>A single nucleotide variant not provided [RCV000883088] Chr2:142960779 [GRCh38]
Chr2:143718348 [GRCh37]
Chr2:2q22.2		 benign
NM_003937.3(KYNU):c.828+9G>A single nucleotide variant not provided [RCV000974004] Chr2:142985191 [GRCh38]
Chr2:143742760 [GRCh37]
Chr2:2q22.2		 likely benign
NM_003937.3(KYNU):c.195T>C (p.Asp65=) single nucleotide variant not provided [RCV000936487] Chr2:142918634 [GRCh38]
Chr2:143676203 [GRCh37]
Chr2:2q22.2		 likely benign
NM_003937.3(KYNU):c.828+8C>T single nucleotide variant not provided [RCV000943103] Chr2:142985190 [GRCh38]
Chr2:143742759 [GRCh37]
Chr2:2q22.2		 likely benign
NM_003937.3(KYNU):c.60C>T (p.Leu20=) single nucleotide variant KYNU-related condition [RCV003972990]|not provided [RCV000982675] Chr2:142885427 [GRCh38]
Chr2:143642996 [GRCh37]
Chr2:2q22.2		 likely benign
NM_003937.3(KYNU):c.1260A>G (p.Lys420=) single nucleotide variant not provided [RCV000982501] Chr2:143040646 [GRCh38]
Chr2:143798215 [GRCh37]
Chr2:2q22.2		 likely benign
GRCh37/hg19 2q22.2-22.3(chr2:143192287-144325954)x3 copy number gain not provided [RCV000849947] Chr2:143192287..144325954 [GRCh37]
Chr2:2q22.2-22.3		 uncertain significance
GRCh37/hg19 2q22.2(chr2:143290896-143804910)x3 copy number gain not provided [RCV000847135] Chr2:143290896..143804910 [GRCh37]
Chr2:2q22.2		 uncertain significance
NM_003937.3(KYNU):c.26C>T (p.Pro9Leu) single nucleotide variant Inborn genetic diseases [RCV003240965] Chr2:142885393 [GRCh38]
Chr2:143642962 [GRCh37]
Chr2:2q22.2		 uncertain significance
NM_003937.3(KYNU):c.121C>T (p.His41Tyr) single nucleotide variant not provided [RCV000901517] Chr2:142885488 [GRCh38]
Chr2:143643057 [GRCh37]
Chr2:2q22.2		 likely benign
NM_003937.3(KYNU):c.1047T>C (p.Phe349=) single nucleotide variant not provided [RCV000889456] Chr2:143040433 [GRCh38]
Chr2:143798002 [GRCh37]
Chr2:2q22.2		 benign
GRCh37/hg19 2q22.2(chr2:142738538-143643346)x3 copy number gain not provided [RCV001005325] Chr2:142738538..143643346 [GRCh37]
Chr2:2q22.2		 uncertain significance
Single allele deletion Mowat-Wilson syndrome [RCV001250753] Chr2:137639637..146827604 [GRCh37]
Chr2:2q22.1-22.3		 pathogenic
NC_000002.12:g.142877008_142961693del deletion Catel-Manzke syndrome [RCV001256672] Chr2:142877008..142961693 [GRCh38]
Chr2:143634577..143719262 [GRCh37]
Chr2:2q22.2		 pathogenic
NM_003937.3(KYNU):c.1282C>T (p.Arg428Trp) single nucleotide variant Catel-Manzke syndrome [RCV001256673]|Congenital NAD deficiency disorder [RCV001391067]|not provided [RCV003313200] Chr2:143042056 [GRCh38]
Chr2:143799625 [GRCh37]
Chr2:2q22.2		 pathogenic|likely pathogenic
NM_003937.3(KYNU):c.989G>A (p.Arg330Gln) single nucleotide variant Catel-Manzke syndrome [RCV001256674] Chr2:143033269 [GRCh38]
Chr2:143790838 [GRCh37]
Chr2:2q22.2		 pathogenic
NM_003937.3(KYNU):c.326G>C (p.Trp109Ser) single nucleotide variant Catel-Manzke syndrome [RCV001256675] Chr2:142927694 [GRCh38]
Chr2:143685263 [GRCh37]
Chr2:2q22.2		 pathogenic
GRCh37/hg19 2q21.3-23.3(chr2:136473383-152727396) copy number gain Global developmental delay [RCV001352659] Chr2:136473383..152727396 [GRCh37]
Chr2:2q21.3-23.3		 pathogenic
NM_003937.3(KYNU):c.788A>G (p.His263Arg) single nucleotide variant Congenital NAD deficiency disorder [RCV001391062]|Vertebral, cardiac, renal, and limb defects syndrome 2 [RCV003883466] Chr2:142985142 [GRCh38]
Chr2:143742711 [GRCh37]
Chr2:2q22.2		 pathogenic
NM_003937.3(KYNU):c.616G>A (p.Glu206Lys) single nucleotide variant Congenital NAD deficiency disorder [RCV001391063]|Vertebral, cardiac, renal, and limb defects syndrome 2 [RCV003883467] Chr2:142960657 [GRCh38]
Chr2:143718226 [GRCh37]
Chr2:2q22.2		 pathogenic|likely pathogenic
NM_003937.3(KYNU):c.361_363del (p.Lys121del) deletion Congenital NAD deficiency disorder [RCV001391064]|Vertebral, cardiac, renal, and limb defects syndrome 2 [RCV003883468] Chr2:142927728..142927730 [GRCh38]
Chr2:143685297..143685299 [GRCh37]
Chr2:2q22.2		 pathogenic|likely pathogenic
NM_003937.3(KYNU):c.1035T>A (p.Ser345Arg) single nucleotide variant Congenital NAD deficiency disorder [RCV001391065]|Vertebral, cardiac, renal, and limb defects syndrome 2 [RCV003883469] Chr2:143033315 [GRCh38]
Chr2:143790884 [GRCh37]
Chr2:2q22.2		 pathogenic|likely pathogenic
NM_003937.3(KYNU):c.489del (p.Ala164fs) deletion Congenital NAD deficiency disorder [RCV001391066] Chr2:142956254 [GRCh38]
Chr2:143713823 [GRCh37]
Chr2:2q22.2		 pathogenic
NM_003937.3(KYNU):c.955+26C>T single nucleotide variant Hydroxykynureninuria [RCV001731086]|Vertebral, cardiac, renal, and limb defects syndrome 2 [RCV001731087] Chr2:143029705 [GRCh38]
Chr2:143787274 [GRCh37]
Chr2:2q22.2		 benign
NM_003937.3(KYNU):c.256dup (p.Tyr86fs) duplication Vertebral, cardiac, renal, and limb defects syndrome 2 [RCV003326157]|not provided [RCV001782359] Chr2:142918694..142918695 [GRCh38]
Chr2:143676263..143676264 [GRCh37]
Chr2:2q22.2		 pathogenic|likely pathogenic
NM_003937.3(KYNU):c.902+1G>A single nucleotide variant Vertebral, cardiac, renal, and limb defects syndrome 2 [RCV001808860] Chr2:142986022 [GRCh38]
Chr2:143743591 [GRCh37]
Chr2:2q22.2		 likely pathogenic
NM_003937.3(KYNU):c.455C>T (p.Thr152Met) single nucleotide variant Inborn genetic diseases [RCV003163946]|Vertebral, cardiac, renal, and limb defects syndrome 2 [RCV001808094] Chr2:142956222 [GRCh38]
Chr2:143713791 [GRCh37]
Chr2:2q22.2		 uncertain significance
GRCh37/hg19 2q22.2-23.3(chr2:142409401-152680804)x3 copy number gain not provided [RCV001834428] Chr2:142409401..152680804 [GRCh37]
Chr2:2q22.2-23.3		 pathogenic
GRCh37/hg19 2q14.3-22.2(chr2:122699106-143799629)x1 copy number loss not provided [RCV001832883] Chr2:122699106..143799629 [GRCh37]
Chr2:2q14.3-22.2		 pathogenic
GRCh37/hg19 2q22.2-23.3(chr2:143258712-152867819) copy number loss not specified [RCV002053238] Chr2:143258712..152867819 [GRCh37]
Chr2:2q22.2-23.3		 pathogenic
GRCh37/hg19 2q22.2(chr2:143440277-143686832) copy number gain not specified [RCV002053239] Chr2:143440277..143686832 [GRCh37]
Chr2:2q22.2		 uncertain significance
GRCh37/hg19 2q13-22.3(chr2:111484468-146333604)x3 copy number gain not provided [RCV001832896] Chr2:111484468..146333604 [GRCh37]
Chr2:2q13-22.3		 pathogenic
GRCh37/hg19 2q22.1-22.3(chr2:138578298-144874187) copy number loss not specified [RCV002053235] Chr2:138578298..144874187 [GRCh37]
Chr2:2q22.1-22.3		 likely pathogenic
GRCh37/hg19 2q13-22.3(chr2:112475655-145691999)x3 copy number gain 2q13q22.3 microduplication syndrome [RCV002226436] Chr2:112475655..145691999 [GRCh37]
Chr2:2q13-22.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_003937.3(KYNU):c.773T>C (p.Val258Ala) single nucleotide variant Hydroxykynureninuria [RCV002249093] Chr2:142985127 [GRCh38]
Chr2:143742696 [GRCh37]
Chr2:2q22.2		 likely pathogenic
NM_003937.3(KYNU):c.374-2A>G single nucleotide variant not provided [RCV002275699] Chr2:142954808 [GRCh38]
Chr2:143712377 [GRCh37]
Chr2:2q22.2		 not provided
NM_003937.3(KYNU):c.374-433_435+369del deletion Vertebral, cardiac, renal, and limb defects syndrome 2 [RCV002265065] Chr2:142954376..142955239 [GRCh38]
Chr2:143711945..143712808 [GRCh37]
Chr2:2q22.2		 pathogenic
NM_003937.3(KYNU):c.199A>G (p.Asn67Asp) single nucleotide variant Inborn genetic diseases [RCV003277036] Chr2:142918638 [GRCh38]
Chr2:143676207 [GRCh37]
Chr2:2q22.2		 uncertain significance
GRCh37/hg19 2q22.2(chr2:143610406-143881574)x3 copy number gain not provided [RCV002474638] Chr2:143610406..143881574 [GRCh37]
Chr2:2q22.2		 uncertain significance
NM_003937.3(KYNU):c.758A>G (p.His253Arg) single nucleotide variant Inborn genetic diseases [RCV003264989] Chr2:142985112 [GRCh38]
Chr2:143742681 [GRCh37]
Chr2:2q22.2		 uncertain significance
NM_003937.3(KYNU):c.903-2A>C single nucleotide variant not provided [RCV002614948] Chr2:143029625 [GRCh38]
Chr2:143787194 [GRCh37]
Chr2:2q22.2		 likely pathogenic
NM_003937.3(KYNU):c.574C>G (p.Pro192Ala) single nucleotide variant Inborn genetic diseases [RCV002981053] Chr2:142957707 [GRCh38]
Chr2:143715276 [GRCh37]
Chr2:2q22.2		 uncertain significance
NM_003937.3(KYNU):c.967del (p.Ile323fs) deletion not provided [RCV002640483] Chr2:143033246 [GRCh38]
Chr2:143790815 [GRCh37]
Chr2:2q22.2		 pathogenic
NM_003937.3(KYNU):c.601A>G (p.Ile201Val) single nucleotide variant Inborn genetic diseases [RCV002854311] Chr2:142960642 [GRCh38]
Chr2:143718211 [GRCh37]
Chr2:2q22.2		 uncertain significance
NM_003937.3(KYNU):c.127A>G (p.Arg43Gly) single nucleotide variant Inborn genetic diseases [RCV002827934] Chr2:142885494 [GRCh38]
Chr2:143643063 [GRCh37]
Chr2:2q22.2		 uncertain significance
NM_003937.3(KYNU):c.562C>T (p.Arg188Trp) single nucleotide variant Inborn genetic diseases [RCV002963516] Chr2:142957695 [GRCh38]
Chr2:143715264 [GRCh37]
Chr2:2q22.2		 uncertain significance
NM_003937.3(KYNU):c.142A>T (p.Ile48Phe) single nucleotide variant Inborn genetic diseases [RCV002813173] Chr2:142885509 [GRCh38]
Chr2:143643078 [GRCh37]
Chr2:2q22.2		 uncertain significance
NM_003937.3(KYNU):c.845C>T (p.Ala282Val) single nucleotide variant Inborn genetic diseases [RCV003209854] Chr2:142985964 [GRCh38]
Chr2:143743533 [GRCh37]
Chr2:2q22.2		 uncertain significance
NM_003937.3(KYNU):c.85G>A (p.Val29Met) single nucleotide variant Inborn genetic diseases [RCV003214893] Chr2:142885452 [GRCh38]
Chr2:143643021 [GRCh37]
Chr2:2q22.2		 uncertain significance
NM_003937.3(KYNU):c.1168A>G (p.Ile390Val) single nucleotide variant Inborn genetic diseases [RCV003266131] Chr2:143040554 [GRCh38]
Chr2:143798123 [GRCh37]
Chr2:2q22.2		 uncertain significance
NM_003937.3(KYNU):c.865T>C (p.Phe289Leu) single nucleotide variant Vertebral, cardiac, renal, and limb defects syndrome 2 [RCV003326203] Chr2:142985984 [GRCh38]
Chr2:143743553 [GRCh37]
Chr2:2q22.2		 uncertain significance
NM_003937.3(KYNU):c.510T>A (p.Tyr170Ter) single nucleotide variant KYNU-related disorders [RCV003335880] Chr2:142957643 [GRCh38]
Chr2:143715212 [GRCh37]
Chr2:2q22.2		 likely pathogenic
NM_003937.3(KYNU):c.825C>A (p.Tyr275Ter) single nucleotide variant KYNU-related disorders [RCV003335881] Chr2:142985179 [GRCh38]
Chr2:143742748 [GRCh37]
Chr2:2q22.2		 likely pathogenic
NM_003937.3(KYNU):c.518A>G (p.Glu173Gly) single nucleotide variant Inborn genetic diseases [RCV003378268] Chr2:142957651 [GRCh38]
Chr2:143715220 [GRCh37]
Chr2:2q22.2		 uncertain significance
NM_003937.3(KYNU):c.735T>G (p.Cys245Trp) single nucleotide variant not specified [RCV003479743] Chr2:142985089 [GRCh38]
Chr2:143742658 [GRCh37]
Chr2:2q22.2		 uncertain significance
NM_003937.3(KYNU):c.373_373+3del deletion KYNU-related condition [RCV003416723] Chr2:142927738..142927741 [GRCh38]
Chr2:143685307..143685310 [GRCh37]
Chr2:2q22.2		 likely pathogenic
NM_003937.3:c.788A>G single nucleotide variant Vertebral, cardiac, renal, and limb defects syndrome 2 [RCV003882757]   pathogenic
NM_003937.3:c.361_363del deletion Vertebral, cardiac, renal, and limb defects syndrome 2 [RCV003882759]   pathogenic
NM_003937.3:c.1035T>A variation Vertebral, cardiac, renal, and limb defects syndrome 2 [RCV003882760]   pathogenic
NM_003937.3(KYNU):c.1041G>A (p.Glu347=) single nucleotide variant not provided [RCV003487982] Chr2:143033321 [GRCh38]
Chr2:143790890 [GRCh37]
Chr2:2q22.2		 uncertain significance
NM_003937.3:c.616G>A single nucleotide variant Vertebral, cardiac, renal, and limb defects syndrome 2 [RCV003882758]   pathogenic
GRCh37/hg19 2q22.2(chr2:143627015-143881574)x3 copy number gain not specified [RCV003986143] Chr2:143627015..143881574 [GRCh37]
Chr2:2q22.2		 uncertain significance
GRCh37/hg19 2q21.2-23.2(chr2:134589311-149951291)x3 copy number gain not specified [RCV003986337] Chr2:134589311..149951291 [GRCh37]
Chr2:2q21.2-23.2		 likely pathogenic
GRCh37/hg19 2q22.2-22.3(chr2:142681355-146293674)x1 copy number loss not provided [RCV003885493] Chr2:142681355..146293674 [GRCh37]
Chr2:2q22.2-22.3		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:416
Count of miRNA genes:318
Interacting mature miRNAs:341
Transcripts:ENST00000264170, ENST00000375773, ENST00000409512, ENST00000410015, ENST00000424385, ENST00000460143
Prediction methods: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
WI-11702  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372143,799,721 - 143,799,850UniSTSGRCh37
Build 362143,516,191 - 143,516,320RGDNCBI36
Celera2137,512,129 - 137,512,258RGD
Cytogenetic Map2q22.2UniSTS
HuRef2135,790,910 - 135,791,039UniSTS
GeneMap99-GB4 RH Map2487.5UniSTS
Whitehead-RH Map2777.2UniSTS
NCBI RH Map21043.4UniSTS
SHGC-132405  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372143,717,189 - 143,717,461UniSTSGRCh37
Build 362143,433,659 - 143,433,931RGDNCBI36
Celera2137,429,588 - 137,429,861RGD
Cytogenetic Map2q22.2UniSTS
HuRef2135,708,276 - 135,708,549UniSTS
TNG Radiation Hybrid Map277206.0UniSTS
A004C41  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372143,799,654 - 143,799,807UniSTSGRCh37
Build 362143,516,124 - 143,516,277RGDNCBI36
Celera2137,512,062 - 137,512,215RGD
Cytogenetic Map2q22.2UniSTS
HuRef2135,790,843 - 135,790,996UniSTS
GeneMap99-GB4 RH Map2494.64UniSTS
SHGC-33569  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372143,698,005 - 143,698,129UniSTSGRCh37
Build 362143,414,475 - 143,414,599RGDNCBI36
Celera2137,410,403 - 137,410,527RGD
Cytogenetic Map2q22.2UniSTS
HuRef2135,689,088 - 135,689,212UniSTS
GeneMap99-GB4 RH Map2495.46UniSTS
Whitehead-RH Map2773.8UniSTS
GeneMap99-G3 RH Map26706.0UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 19 2 177 174 460 177 23 5 8 88 87 101 3 1
Low 398 1138 991 326 1292 282 818 107 420 245 683 1183 55 1 706 313 3 1
Below cutoff 2019 1843 557 123 196 6 3495 2059 3269 84 685 325 117 498 2456 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_023254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001032998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001199241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003937 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011512102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005217 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047446250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047446251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047446252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047446253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_923058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC013437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC013444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC092682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL548658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW290980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW296221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000879 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB151988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR457423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U57721 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000264170   ⟹   ENSP00000264170
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2142,877,664 - 143,055,833 (+)Ensembl
RefSeq Acc Id: ENST00000375773   ⟹   ENSP00000364928
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2142,877,657 - 142,990,052 (+)Ensembl
RefSeq Acc Id: ENST00000409512   ⟹   ENSP00000386731
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2142,877,664 - 143,042,172 (+)Ensembl
RefSeq Acc Id: ENST00000410015   ⟹   ENSP00000387296
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2142,877,666 - 142,947,421 (+)Ensembl
RefSeq Acc Id: ENST00000424385   ⟹   ENSP00000401190
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2142,877,684 - 142,954,871 (+)Ensembl
RefSeq Acc Id: ENST00000460143
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2142,918,679 - 142,958,075 (+)Ensembl
RefSeq Acc Id: ENST00000612147   ⟹   ENSP00000481930
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2142,918,679 - 142,967,494 (+)Ensembl
RefSeq Acc Id: ENST00000613664   ⟹   ENSP00000482009
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2142,927,659 - 142,971,393 (+)Ensembl
RefSeq Acc Id: ENST00000621320   ⟹   ENSP00000484801
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2142,885,395 - 142,964,752 (+)Ensembl
RefSeq Acc Id: NM_001032998   ⟹   NP_001028170
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382142,877,664 - 142,990,065 (+)NCBI
GRCh372143,506,497 - 143,799,885 (+)NCBI
Build 362143,351,665 - 143,463,576 (+)NCBI Archive
HuRef2135,626,307 - 135,791,074 (+)ENTREZGENE
CHM1_12143,640,202 - 143,752,144 (+)NCBI
T2T-CHM13v2.02143,325,958 - 143,438,324 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001199241   ⟹   NP_001186170
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382142,877,664 - 143,055,833 (+)NCBI
GRCh372143,506,497 - 143,799,885 (+)NCBI
HuRef2135,626,307 - 135,791,074 (+)ENTREZGENE
CHM1_12143,640,202 - 143,804,900 (+)NCBI
T2T-CHM13v2.02143,325,958 - 143,504,091 (+)NCBI
Sequence:
RefSeq Acc Id: NM_003937   ⟹   NP_003928
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382142,877,664 - 143,055,833 (+)NCBI
GRCh372143,506,497 - 143,799,885 (+)NCBI
Build 362143,351,665 - 143,516,355 (+)NCBI Archive
HuRef2135,626,307 - 135,791,074 (+)ENTREZGENE
CHM1_12143,640,202 - 143,804,900 (+)NCBI
T2T-CHM13v2.02143,325,958 - 143,504,091 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017005217   ⟹   XP_016860706
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382142,877,664 - 142,989,537 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047446250   ⟹   XP_047302206
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382142,877,664 - 143,037,265 (+)NCBI
RefSeq Acc Id: XM_047446251   ⟹   XP_047302207
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382142,877,664 - 142,989,537 (+)NCBI
RefSeq Acc Id: XM_047446252   ⟹   XP_047302208
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382142,877,664 - 142,989,537 (+)NCBI
RefSeq Acc Id: XM_047446253   ⟹   XP_047302209
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382142,877,664 - 142,986,025 (+)NCBI
RefSeq Acc Id: XM_054344414   ⟹   XP_054200389
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02143,325,958 - 143,485,541 (+)NCBI
RefSeq Acc Id: XM_054344415   ⟹   XP_054200390
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02143,325,958 - 143,438,311 (+)NCBI
RefSeq Acc Id: XM_054344416   ⟹   XP_054200391
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02143,325,958 - 143,438,311 (+)NCBI
RefSeq Acc Id: XM_054344417   ⟹   XP_054200392
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02143,325,958 - 143,438,311 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001028170 (Get FASTA)   NCBI Sequence Viewer  
  NP_001186170 (Get FASTA)   NCBI Sequence Viewer  
  NP_003928 (Get FASTA)   NCBI Sequence Viewer  
  XP_016860706 (Get FASTA)   NCBI Sequence Viewer  
  XP_047302206 (Get FASTA)   NCBI Sequence Viewer  
  XP_047302207 (Get FASTA)   NCBI Sequence Viewer  
  XP_047302208 (Get FASTA)   NCBI Sequence Viewer  
  XP_047302209 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200389 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200390 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200391 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200392 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC50650 (Get FASTA)   NCBI Sequence Viewer  
  AAH00879 (Get FASTA)   NCBI Sequence Viewer  
  AAX93159 (Get FASTA)   NCBI Sequence Viewer  
  AAY14727 (Get FASTA)   NCBI Sequence Viewer  
  BAD97146 (Get FASTA)   NCBI Sequence Viewer  
  BAF83589 (Get FASTA)   NCBI Sequence Viewer  
  BAF84784 (Get FASTA)   NCBI Sequence Viewer  
  BAG37742 (Get FASTA)   NCBI Sequence Viewer  
  CAG33704 (Get FASTA)   NCBI Sequence Viewer  
  EAX11599 (Get FASTA)   NCBI Sequence Viewer  
  EAX11600 (Get FASTA)   NCBI Sequence Viewer  
  EAX11601 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000264170
  ENSP00000264170.4
  ENSP00000364928
  ENSP00000364928.2
  ENSP00000386731
  ENSP00000386731.1
  ENSP00000387296.1
  ENSP00000401190.1
  ENSP00000481930.1
  ENSP00000482009.1
  ENSP00000484801.1
GenBank Protein Q16719 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_001186170   ⟸   NM_001199241
- Peptide Label: isoform a
- UniProtKB: Q6I9T2 (UniProtKB/Swiss-Prot),   D3DP79 (UniProtKB/Swiss-Prot),   B2RCZ5 (UniProtKB/Swiss-Prot),   Q9BVW3 (UniProtKB/Swiss-Prot),   Q16719 (UniProtKB/Swiss-Prot),   A8K4D5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_003928   ⟸   NM_003937
- Peptide Label: isoform a
- UniProtKB: Q6I9T2 (UniProtKB/Swiss-Prot),   D3DP79 (UniProtKB/Swiss-Prot),   B2RCZ5 (UniProtKB/Swiss-Prot),   Q9BVW3 (UniProtKB/Swiss-Prot),   Q16719 (UniProtKB/Swiss-Prot),   A8K4D5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001028170   ⟸   NM_001032998
- Peptide Label: isoform b
- UniProtKB: Q16719 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016860706   ⟸   XM_017005217
- Peptide Label: isoform X2
- UniProtKB: Q16719 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000387296   ⟸   ENST00000410015
RefSeq Acc Id: ENSP00000401190   ⟸   ENST00000424385
RefSeq Acc Id: ENSP00000484801   ⟸   ENST00000621320
RefSeq Acc Id: ENSP00000364928   ⟸   ENST00000375773
RefSeq Acc Id: ENSP00000481930   ⟸   ENST00000612147
RefSeq Acc Id: ENSP00000482009   ⟸   ENST00000613664
RefSeq Acc Id: ENSP00000386731   ⟸   ENST00000409512
RefSeq Acc Id: ENSP00000264170   ⟸   ENST00000264170
RefSeq Acc Id: XP_047302206   ⟸   XM_047446250
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047302208   ⟸   XM_047446252
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047302207   ⟸   XM_047446251
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047302209   ⟸   XM_047446253
- Peptide Label: isoform X3
- UniProtKB: Q53SX6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054200389   ⟸   XM_054344414
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054200392   ⟸   XM_054344417
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054200391   ⟸   XM_054344416
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054200390   ⟸   XM_054344415
- Peptide Label: isoform X2
Protein Domains
Aminotransferase class V

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q16719-F1-model_v2 AlphaFold Q16719 1-465 view protein structure

Promoters
RGD ID:6861672
Promoter ID:EPDNEW_H4001
Type:initiation region
Name:KYNU_1
Description:kynureninase
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
GRCh382142,877,664 - 142,877,724EPDNEW
RGD ID:6797204
Promoter ID:HG_KWN:35255
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000392874,   ENST00000410015,   NM_001032998,   OTTHUMT00000254772,   OTTHUMT00000332173,   UC010FNM.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362143,351,021 - 143,351,722 (+)MPROMDB
RGD ID:6852434
Promoter ID:EP74026
Type:initiation region
Name:HS_KYNU
Description:Kynureninase (L-kynurenine hydrolase).
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 362143,351,703 - 143,351,763EPD
RGD ID:6797724
Promoter ID:HG_KWN:35256
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:OTTHUMT00000332174
Position:
Human AssemblyChrPosition (strand)Source
Build 362143,392,081 - 143,392,932 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6469 AgrOrtholog
COSMIC KYNU COSMIC
Ensembl Genes ENSG00000115919 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000264170 ENTREZGENE
  ENST00000264170.9 UniProtKB/Swiss-Prot
  ENST00000375773 ENTREZGENE
  ENST00000375773.6 UniProtKB/Swiss-Prot
  ENST00000409512 ENTREZGENE
  ENST00000409512.5 UniProtKB/Swiss-Prot
  ENST00000410015.6 UniProtKB/TrEMBL
  ENST00000424385.5 UniProtKB/TrEMBL
  ENST00000612147.4 UniProtKB/TrEMBL
  ENST00000613664.1 UniProtKB/TrEMBL
  ENST00000621320.4 UniProtKB/TrEMBL
Gene3D-CATH 3.40.640.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.90.1150.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000115919 GTEx
HGNC ID HGNC:6469 ENTREZGENE
Human Proteome Map KYNU Human Proteome Map
InterPro Aminotrans_V_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kynureninase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PyrdxlP-dep_Trfase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PyrdxlP-dep_Trfase_dom1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PyrdxlP-dep_Trfase_major UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:8942 UniProtKB/Swiss-Prot
NCBI Gene 8942 ENTREZGENE
OMIM 605197 OMIM
PANTHER KYNURENINASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR14084 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Aminotran_5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30258 PharmGKB
PIRSF KYNU UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53383 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WYM2_HUMAN UniProtKB/TrEMBL
  A0A087WYQ7_HUMAN UniProtKB/TrEMBL
  A0A087X297_HUMAN UniProtKB/TrEMBL
  A8K4D5 ENTREZGENE, UniProtKB/TrEMBL
  A8K7T0_HUMAN UniProtKB/TrEMBL
  B2RCZ5 ENTREZGENE
  B8ZZA3_HUMAN UniProtKB/TrEMBL
  D3DP79 ENTREZGENE
  F8WEP1_HUMAN UniProtKB/TrEMBL
  KYNU_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q53SX6 ENTREZGENE, UniProtKB/TrEMBL
  Q53SY0_HUMAN UniProtKB/TrEMBL
  Q6I9T2 ENTREZGENE
  Q9BVW3 ENTREZGENE
UniProt Secondary B2RCZ5 UniProtKB/Swiss-Prot
  D3DP79 UniProtKB/Swiss-Prot
  Q6I9T2 UniProtKB/Swiss-Prot
  Q9BVW3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2011-07-27 KYNU  kynureninase  KYNU  kynureninase (L-kynurenine hydrolase)  Symbol and/or name change 5135510 APPROVED