Gene Gene information from NCBI Gene database.
Entrez ID 8942
Gene name Kynureninase
Gene symbol KYNU
Synonyms (NCBI Gene)
KYNUUVCRL2
Chromosome 2
Chromosome location 2q22.2
Summary Kynureninase is a pyridoxal-5`-phosphate (pyridoxal-P) dependent enzyme that catalyzes the cleavage of L-kynurenine and L-3-hydroxykynurenine into anthranilic and 3-hydroxyanthranilic acids, respectively. Kynureninase is involved in the biosynthesis of NA
SNPs SNP information provided by dbSNP.
4
SNP ID Visualize variation Clinical significance Consequence
rs606231307 A>G Pathogenic Missense variant, non coding transcript variant, coding sequence variant
rs758865880 T>A Pathogenic, likely-pathogenic Stop gained, coding sequence variant, non coding transcript variant
rs770642379 TTTAAGC>- Pathogenic Genic downstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant
rs1135401744 G>T Pathogenic Splice acceptor variant, genic upstream transcript variant
miRNA miRNA information provided by mirtarbase database.
188
miRTarBase ID miRNA Experiments Reference
MIRT519031 hsa-miR-3074-3p HITS-CLIP 21572407
MIRT519030 hsa-miR-2115-3p HITS-CLIP 21572407
MIRT519029 hsa-miR-4494 HITS-CLIP 21572407
MIRT519027 hsa-miR-499b-5p HITS-CLIP 21572407
MIRT519028 hsa-miR-361-5p HITS-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
32
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005654 Component Nucleoplasm IDA
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IEA
GO:0005739 Component Mitochondrion IDA 6468727
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605197 6469 ENSG00000115919
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q16719
Protein name Kynureninase (EC 3.7.1.3) (L-kynurenine hydrolase)
Protein function Catalyzes the cleavage of L-kynurenine (L-Kyn) and L-3-hydroxykynurenine (L-3OHKyn) into anthranilic acid (AA) and 3-hydroxyanthranilic acid (3-OHAA), respectively. Has a preference for the L-3-hydroxy form. Also has cysteine-conjugate-beta-lyas
PDB 2HZP , 3E9K , 7S3V
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00266 Aminotran_5 69 403 Aminotransferase class-V Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in all tissues tested (heart, brain placenta, lung, liver, skeletal muscle, kidney and pancreas). Highest levels found in placenta, liver and lung. Expressed in all brain regions. {ECO:0000269|PubMed:8706755, ECO:0000269|PubM
Sequence
Sequence length 465
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Tryptophan metabolism
Metabolic pathways
Biosynthesis of cofactors
  Tryptophan catabolism
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
51
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Catel-Manzke syndrome Pathogenic; Likely pathogenic rs780720490, rs142934146, rs147475752 RCV001256675
RCV001256674
RCV001256673
Clear cell carcinoma of kidney Likely pathogenic rs754953201 RCV005922639
Congenital NAD deficiency disorder Pathogenic; Likely pathogenic rs1135401744, rs758865880, rs770642379, rs147475752, rs767060858, rs752269711, rs765122670, rs1458654786, rs771131526 RCV000496147
RCV000496184
RCV000496114
RCV001391067
RCV001391064
RCV001391066
RCV001391063
RCV001391062
RCV001391065
Hydroxykynureninuria Pathogenic rs606231307 RCV000148021
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Intellectual disability Benign; Likely benign rs373196560 RCV005622042
Squamous cell carcinoma of the head and neck - rs893482697 RCV005930236
Squamous cell lung carcinoma Uncertain significance rs1483044652 RCV005931251
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 37799714, 39735553
Amyotrophic lateral sclerosis 1 Associate 34194442
Aneurysm Associate 33298635
Arthritis Reactive Associate 32934294
Arthritis Rheumatoid Associate 30123050, 34177888
Breast Neoplasms Associate 33109232
Carcinoma Ductal Associate 37221310
Colitis Ulcerative Associate 38303405, 39596612
COVID 19 Associate 36499104
Depressive Disorder Associate 30718454