Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8942
Gene name Gene Name - the full gene name approved by the HGNC.
Kynureninase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
KYNU
Synonyms (NCBI Gene) Gene synonyms aliases
KYNUU, VCRL2
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q22.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
605197 6469 ENSG00000115919
Protein
UniProt ID 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 categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Congenital vertebral-cardiac-renal anomalies syndrome vertebral, cardiac, renal, and limb defects syndrome 2 rs1135401744, rs758865880, rs770642379 N/A
Hydroxykynureninuria hydroxykynureninuria rs606231307 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Asthma Asthma N/A N/A GWAS
Hyperopia Hyperopia N/A N/A GWAS
Associations from Text Mining Disease 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