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 NAD cofactors from tryptophan through the kynurenine pathway. Alternative splicing results in multiple transcript variants. [pr... See more...

Aliases for KYNU Gene

Aliases for KYNU Gene

  • Kynureninase 2 3 4 5
  • L-Kynurenine Hydrolase 2 3 4
  • EC 3.7.1.3 4 54
  • Kynureninase (L-Kynurenine Hydrolase) 2
  • KYNUU 3
  • VCRL2 3

External Ids for KYNU Gene

Previous GeneCards Identifiers for KYNU Gene

  • GC02P141324
  • GC02P141952
  • GC02P143657
  • GC02P143845
  • GC02P143468
  • GC02P143351
  • GC02P135626
  • GC02P142877

Summaries for KYNU Gene

Entrez Gene Summary for KYNU 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 NAD cofactors from tryptophan through the kynurenine pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010]

GeneCards Summary for KYNU Gene

KYNU (Kynureninase) is a Protein Coding gene. Diseases associated with KYNU include Hydroxykynureninuria and Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2. Among its related pathways are Selenium Micronutrient Network and NAD metabolism. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and kynureninase activity.

UniProtKB/Swiss-Prot Summary for KYNU Gene

  • 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-lyase activity.

Gene Wiki entry for KYNU Gene

Additional gene information for KYNU Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KYNU Gene

Genomics for KYNU Gene

GeneHancer (GH) Regulatory Elements for KYNU Gene

Promoters and enhancers for KYNU Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J142864 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 800.6 +124.5 124540 16.3 SIN3A LCORL FOXA1 RBPJ POLR2A TCF7L2 USF2 NR2F6 ATF1 ZNF217 KYNU lnc-KYNU-1 lnc-LRP1B-11 LOC105373652 lnc-LRP1B-4-001 lnc-LRP1B-4-002
GH02J142750 Enhancer 0.6 Ensembl 750.6 +1.9 1873 0.4 HLF SP1 MAFK CEBPA GATAD2A JUND FOXA2 FOSL2 NFIL3 HNF4A KYNU piR-48799-060
GH02J142862 Enhancer 1.3 FANTOM5 ENCODE dbSUPER 48.1 +114.5 114490 2.6 SIN3A LCORL MLX RBPJ POLR2A NR2F6 ATF1 CREB1 MIXL1 ZNF652 KYNU lnc-LRP1B-4-001 ENSG00000229781 lnc-KYNU-2 LOC105373652
GH02J142855 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 32.4 +109.5 109492 5.2 HLF ZBTB33 CEBPG CEBPA CEBPB REST JUN JUND SP1 EP300 KYNU ENSG00000229781 LOC100129955 lnc-KYNU-2 lnc-LRP1B-4-001
GH02J142840 Enhancer 0.8 FANTOM5 Ensembl ENCODE 37.3 +93.8 93772 5.4 HLF CEBPA FOXP1 JUN KYNU LOC100129955 piR-48799-060
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KYNU on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KYNU gene promoter:
  • AP-1
  • COUP
  • COUP-TF
  • COUP-TF1
  • GATA-1
  • GATA-2
  • GATA-3
  • HNF-4alpha1
  • LCR-F1
  • SRY

Genomic Locations for KYNU Gene

Genomic Locations for KYNU Gene
chr2:142,748,928-143,055,833
(GRCh38/hg38)
Size:
306,906 bases
Orientation:
Plus strand
chr2:143,635,067-143,799,890
(GRCh37/hg19)
Size:
164,824 bases
Orientation:
Plus strand

Genomic View for KYNU Gene

Genes around KYNU on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KYNU Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KYNU Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KYNU Gene

Proteins for KYNU Gene

  • Protein details for KYNU Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q16719-KYNU_HUMAN
    Recommended name:
    Kynureninase
    Protein Accession:
    Q16719
    Secondary Accessions:
    • B2RCZ5
    • D3DP79
    • Q6I9T2
    • Q9BVW3

    Protein attributes for KYNU Gene

    Size:
    465 amino acids
    Molecular mass:
    52352 Da
    Cofactor:
    Name=pyridoxal 5'-phosphate; Xref=ChEBI:CHEBI:597326;
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for KYNU Gene

    Alternative splice isoforms for KYNU Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KYNU Gene

Selected DME Specific Peptides for KYNU Gene

Q16719:
  • LTVNLHL
  • DLAHAVGN
  • APVPLYN
  • GNSLGLQP
  • KAFPSDHYA
  • WCSYKYLN
  • RISNPPI

Post-translational modifications for KYNU Gene

  • Ubiquitination at Lys96
  • Modification sites at PhosphoSitePlus

Domains & Families for KYNU Gene

Gene Families for KYNU Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for KYNU Gene

GenScript: Design optimal peptide antigens:
  • L-kynurenine hydrolase (KYNU_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q16719

UniProtKB/Swiss-Prot:

KYNU_HUMAN :
  • Belongs to the kynureninase family.
Family:
  • Belongs to the kynureninase family.
genes like me logo Genes that share domains with KYNU: view

Function for KYNU Gene

Molecular function for KYNU Gene

UniProtKB/Swiss-Prot 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-lyase activity.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + L-kynurenine = anthranilate + H(+) + L-alanine; Xref=Rhea:RHEA:16813, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:16567, ChEBI:CHEBI:57959, ChEBI:CHEBI:57972; EC=3.7.1.3; Evidence={ECO:0000255 HAMAP-Rule:MF_03017, ECO:0000269 PubMed:11985583, ECO:0000269 PubMed:17300176, ECO:0000269 PubMed:8706755, ECO:0000269 PubMed:9180257};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=3-hydroxy-L-kynurenine + H2O = 3-hydroxyanthranilate + H(+) + L-alanine; Xref=Rhea:RHEA:25143, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:36559, ChEBI:CHEBI:57972, ChEBI:CHEBI:58125; EC=3.7.1.3; Evidence={ECO:0000255 HAMAP-Rule:MF_03017, ECO:0000269 PubMed:11985583, ECO:0000269 PubMed:17300176, ECO:0000269 PubMed:28792876, ECO:0000269 PubMed:8706755, ECO:0000269 PubMed:9180257};.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by o-methoxybenzoylalanine (OMBA).
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=493 uM for L-kynurenine (at pH 7.0) {ECO:0000269 PubMed:11985583, ECO:0000269 PubMed:17300176, ECO:0000269 PubMed:8706755, ECO:0000269 PubMed:9180257}; KM=28.3 uM for DL-3-hydroxykynurenine (at pH 7.0) {ECO:0000269 PubMed:11985583, ECO:0000269 PubMed:17300176, ECO:0000269 PubMed:8706755, ECO:0000269 PubMed:9180257}; KM=3.0 uM for DL-3-hydroxykynurenine (at pH 7.9) {ECO:0000269 PubMed:11985583, ECO:0000269 PubMed:17300176, ECO:0000269 PubMed:8706755, ECO:0000269 PubMed:9180257}; pH dependence: Optimum pH is 8.25 with DL-3-hydroxykynurenine as substrate. {ECO:0000269 PubMed:11985583, ECO:0000269 PubMed:17300176, ECO:0000269 PubMed:8706755, ECO:0000269 PubMed:9180257};
UniProtKB/Swiss-Prot Induction:
Increased levels in several cerebral and systemic inflammatory conditions.

Enzyme Numbers (IUBMB) for KYNU Gene

Phenotypes From GWAS Catalog for KYNU Gene

Gene Ontology (GO) - Molecular Function for KYNU Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016787 hydrolase activity IEA --
GO:0030170 pyridoxal phosphate binding IEA --
GO:0030429 kynureninase activity IEA,IMP 17334708
GO:0042803 protein homodimerization activity IDA 11985583
GO:0061981 3-hydroxykynureninase activity IDA 28792876
genes like me logo Genes that share ontologies with KYNU: view
genes like me logo Genes that share phenotypes with KYNU: view

Human Phenotype Ontology for KYNU Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KYNU

Clone Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for KYNU Gene

Localization for KYNU Gene

Subcellular locations from UniProtKB/Swiss-Prot for KYNU Gene

Cytoplasm, cytosol.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KYNU gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 5
plasma membrane 1
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KYNU Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IDA 6468727
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with KYNU: view

Pathways & Interactions for KYNU Gene

genes like me logo Genes that share pathways with KYNU: view

UniProtKB/Swiss-Prot Q16719-KYNU_HUMAN

  • Pathway: Amino-acid degradation; L-kynurenine degradation; L-alanine and anthranilate from L-kynurenine: step 1/1.
  • Pathway: Cofactor biosynthesis; NAD(+) biosynthesis; quinolinate from L-kynurenine: step 2/3.

Gene Ontology (GO) - Biological Process for KYNU Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006569 tryptophan catabolic process IEA,TAS --
GO:0007568 aging IEA --
GO:0009435 NAD biosynthetic process IMP,IEA 28792876
GO:0019363 pyridine nucleotide biosynthetic process IEA --
GO:0019441 tryptophan catabolic process to kynurenine IBA 21873635
genes like me logo Genes that share ontologies with KYNU: view

No data available for SIGNOR curated interactions for KYNU Gene

Drugs & Compounds for KYNU Gene

(20) Drugs for KYNU Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Alanine Approved Nutra Full agonist, Agonist, Target Glycine receptor agonist 0
Pyridoxal Phosphate Approved, Investigational Nutra Target, cofactor 22
Water Approved Pharma 0
3-hydroxyanthranilic acid Experimental Pharma 0
3,6,9,12,15-Pentaoxaheptadecane Experimental Pharma Target 0

(11) Additional Compounds for KYNU Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Formylanthranilic acid
  • 2-(formylamino)-Benzoic acid
  • 2-(formylamino)Benzoic acid
  • 2-(formylamino)-Benzoate
  • Formylanthranilate
  • 2-(formylamino)Benzoate
3342-77-6
Hydroxykynurenine
  • 2-amino-4-(2-amino-3-Hydroxyphenyl)-4-oxobutanoic acid
  • 3-(3-Hydroxyanthraniloyl)alanine
  • 3-Hydroxy-DL-kynurenine
  • 2-amino-4-(2-amino-3-Hydroxyphenyl)-4-oxobutanoate
  • 3-(3-Hydroxyanthraniloyl)-alanine
484-78-6
L-3-Hydroxykynurenine
  • (2S)-2-amino-4-(2-amino-3-Hydroxyphenyl)-4-oxobutanoic acid
  • 3-(3-Hydroxyanthraniloyl)-L-alanine
  • (2S)-2-amino-4-(2-amino-3-Hydroxyphenyl)-4-oxobutanoate
  • 3-(2-amino-3-Hydroxybenzoyl)-L-alanine
  • 3-Hydroxy-L-kynurenine
606-14-4
L-Formylkynurenine
  • 3-(2-Formamidobenzoyl)-L-alanine
  • N'-formylkynurenine
  • N-Formylkynurenine
N'-Formylkynurenine
  • 3-(2-Formamidobenzoyl)alanine
  • Formylkynurenine
  • 3-(N-Formylanthraniloyl)-alanine
  • alpha-amino-2-(formylamino)-gamma-oxo-Benzenebutanoate
  • alpha-amino-2-(formylamino)-gamma-oxo-Benzenebutanoic acid
1022-31-7
genes like me logo Genes that share compounds with KYNU: view

Transcripts for KYNU Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KYNU

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for KYNU Gene

No ASD Table

Relevant External Links for KYNU Gene

GeneLoc Exon Structure for
KYNU
ECgene alternative splicing isoforms for
KYNU

Expression for KYNU Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KYNU Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KYNU Gene

This gene is overexpressed in Liver (x11.1) and Whole Blood (x7.8).

Protein differential expression in normal tissues from HIPED for KYNU Gene

This gene is overexpressed in Tonsil (13.4), Stomach (13.2), and Monocytes (9.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for KYNU Gene



Protein tissue co-expression partners for KYNU Gene

NURSA nuclear receptor signaling pathways regulating expression of KYNU Gene:

KYNU

SOURCE GeneReport for Unigene cluster for KYNU Gene:

Hs.470126

mRNA Expression by UniProt/SwissProt for KYNU Gene:

Q16719-KYNU_HUMAN
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.

Evidence on tissue expression from TISSUES for KYNU Gene

  • Liver(4.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for KYNU Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • respiratory
  • skeletal muscle
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • heart
  • heart valve
Abdomen:
  • kidney
General:
  • blood vessel
genes like me logo Genes that share expression patterns with KYNU: view

Orthologs for KYNU Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for KYNU Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KYNU 33 32
  • 99.71 (n)
OneToOne
dog
(Canis familiaris)
Mammalia KYNU 33 32
  • 89.51 (n)
OneToOne
cow
(Bos Taurus)
Mammalia KYNU 33 32
  • 88.77 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kynu 32
  • 84.63 (n)
mouse
(Mus musculus)
Mammalia Kynu 17 33 32
  • 84.27 (n)
oppossum
(Monodelphis domestica)
Mammalia KYNU 33
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KYNU 33
  • 44 (a)
OneToOne
chicken
(Gallus gallus)
Aves KYNU 33 32
  • 70.9 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KYNU 33
  • 69 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii KYNU (1 of 2) 33
  • 59 (a)
OneToMany
KYNU (2 of 2) 33
  • 48 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8241 32
worm
(Caenorhabditis elegans)
Secernentea C15H9.7 34 32
  • 55 (n)
flu-2 33
  • 47 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BNA5 35 33 32
  • 52.28 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL098W 32
  • 46.94 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU00463 32
  • 52.39 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 47 (a)
OneToMany
-- 33
  • 47 (a)
OneToMany
-- 33
  • 46 (a)
OneToMany
-- 33
  • 46 (a)
OneToMany
-- 33
  • 44 (a)
OneToMany
-- 33
  • 43 (a)
OneToMany
-- 33
  • 42 (a)
OneToMany
-- 33
  • 37 (a)
OneToMany
CSA.3700 33
  • 32 (a)
OneToMany
Cin.13357 32
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13357 32
Species where no ortholog for KYNU was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for KYNU Gene

ENSEMBL:
Gene Tree for KYNU (if available)
TreeFam:
Gene Tree for KYNU (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KYNU: view image

Paralogs for KYNU Gene

Pseudogenes.org Pseudogenes for KYNU Gene

genes like me logo Genes that share paralogs with KYNU: view

No data available for Paralogs for KYNU Gene

Variants for KYNU Gene

Sequence variations from dbSNP and Humsavar for KYNU Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1135401744 pathogenic, Congenital NAD deficiency disorder, VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2 142,918,608(+) G/T genic_upstream_transcript_variant, splice_acceptor_variant
rs2304705 uncertain-significance, not provided, - 142,957,696(+) G/A/C coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs606231307 pathogenic, Hydroxykynureninuria, Hydroxykynureninuria (HYXKY) [MIM:236800] 142,960,633(+) A/G coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs758865880 pathogenic, likely-pathogenic, Congenital NAD deficiency disorder, VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2, not provided 142,956,235(+) T/A coding_sequence_variant, non_coding_transcript_variant, stop_gained
rs770642379 pathogenic, Congenital NAD deficiency disorder, VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2, not provided 143,040,430(+) CTTTAAGC/C coding_sequence_variant, frameshift, genic_downstream_transcript_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for KYNU Gene

Variant ID Type Subtype PubMed ID
esv22318 CNV loss 19812545
esv3592745 CNV loss 21293372
esv3592747 CNV loss 21293372
nsv507038 OTHER sequence alteration 20534489
nsv515932 CNV loss 19592680
nsv517623 CNV loss 19592680
nsv834395 CNV gain 17160897

Variation tolerance for KYNU Gene

Residual Variation Intolerance Score: 28% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.61; 31.01% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KYNU Gene

Human Gene Mutation Database (HGMD)
KYNU
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KYNU

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KYNU Gene

Disorders for KYNU Gene

MalaCards: The human disease database

(5) MalaCards diseases for KYNU Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search KYNU in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KYNU_HUMAN
  • Hydroxykynureninuria (HYXKY) [MIM:236800]: An inborn error of amino acid metabolism characterized by massive urinary excretion of large amounts of kynurenine, 3-hydroxykynurenine and xanthurenic acid. Affected individuals manifest renal tubular dysfunction, metabolic acidosis, psychomotor retardation, non-progressive encephalopathy, and muscular hypertonia. {ECO:0000269 PubMed:17334708, ECO:0000269 PubMed:28792876}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Vertebral, cardiac, renal, and limb defects syndrome 2 (VCRL2) [MIM:617661]: An autosomal recessive congenital malformation syndrome characterized by vertebral segmentation abnormalities, congenital cardiac defects, renal defects, and distal mild limb defects. {ECO:0000269 PubMed:28792876}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for KYNU

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with KYNU: view

No data available for Genatlas for KYNU Gene

Publications for KYNU Gene

  1. Xanthurenic aciduria due to a mutation in KYNU encoding kynureninase. (PMID: 17334708) Christensen M … Christensen E (Journal of inherited metabolic disease 2007) 3 4 23 26 56
  2. Cloning and recombinant expression of rat and human kynureninase. (PMID: 9180257) Toma S … Benatti L (FEBS letters 1997) 2 3 4 23 56
  3. Isolation and expression of a cDNA clone encoding human kynureninase. (PMID: 8706755) Alberati-Giani D … Cesura AM (European journal of biochemistry 1996) 2 3 4 23 56
  4. NAD Deficiency, Congenital Malformations, and Niacin Supplementation. (PMID: 28792876) Shi H … Dunwoodie SL (The New England journal of medicine 2017) 2 3 4 56
  5. Crystal structure of Homo sapiens kynureninase. (PMID: 17300176) Lima S … Phillips RS (Biochemistry 2007) 4 23 26 56

Products for KYNU Gene

Sources for KYNU Gene