Gene Gene information from NCBI Gene database.
Entrez ID 51166
Gene name Aminoadipate aminotransferase
Gene symbol AADAT
Synonyms (NCBI Gene)
KAT2KATIIKYAT2
Chromosome 4
Chromosome location 4q33
Summary This gene encodes a protein that is highly similar to mouse and rat kynurenine aminotransferase II. The rat protein is a homodimer with two transaminase activities. One activity is the transamination of alpha-aminoadipic acid, a final step in the saccarop
miRNA miRNA information provided by mirtarbase database.
86
miRTarBase ID miRNA Experiments Reference
MIRT027084 hsa-miR-103a-3p Sequencing 20371350
MIRT031647 hsa-miR-16-5p Sequencing 20371350
MIRT756750 hsa-miR-1224-5p CLIP-seq
MIRT756751 hsa-miR-129-5p CLIP-seq
MIRT756752 hsa-miR-1303 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
24
GO ID Ontology Definition Evidence Reference
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IEA
GO:0005759 Component Mitochondrial matrix IEA
GO:0005759 Component Mitochondrial matrix TAS
GO:0006103 Process 2-oxoglutarate metabolic process IDA 18620547
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611754 17929 ENSG00000109576
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8N5Z0
Protein name Kynurenine/alpha-aminoadipate aminotransferase, mitochondrial (KAT/AadAT) (2-aminoadipate aminotransferase) (2-aminoadipate transaminase) (EC 2.6.1.39) (Alpha-aminoadipate aminotransferase) (AadAT) (Glycine transaminase AADAT) (EC 2.6.1.4) (Kynurenine ami
Protein function Transaminase with broad substrate specificity. Has transaminase activity towards aminoadipate, kynurenine, methionine and glutamate. Shows activity also towards tryptophan, aspartate and hydroxykynurenine. Accepts a variety of oxo-acids as amino
PDB 2QLR , 2R2N , 2VGZ , 2XH1 , 3DC1 , 3UE8 , 4GDY , 4GE4 , 4GE7 , 4GE9 , 4GEB , 5EFS , 5EUN , 5TF5 , 6D0A , 6T8P , 6T8Q
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00155 Aminotran_1_2 43 417 Aminotransferase class I and II Domain
Tissue specificity TISSUE SPECIFICITY: Higher expression in the liver. Also found in heart, brain, kidney, pancreas, prostate, testis and ovary.
Sequence
Sequence length 425
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CARCINOMA, HEPATOCELLULAR CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEMENTIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Anxiety Anxiety disorder Pubtator 27072370 Associate
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorder Autism Pubtator 33767242 Associate
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorders Autism Spectrum Disorder BEFREE 29366832
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 38115320 Associate
★☆☆☆☆
Found in Text Mining only
Crohn Disease Crohn Disease BEFREE 31666808
★☆☆☆☆
Found in Text Mining only
Depressive disorder Mental Depression BEFREE 29777939
★☆☆☆☆
Found in Text Mining only
Detrusor and sphincter dyssynergia Detrusor And Sphincter Dyssynergia BEFREE 27391207, 27995942
★☆☆☆☆
Found in Text Mining only
Huntington Disease Huntington Disease BEFREE 10441733
★☆☆☆☆
Found in Text Mining only
Leiomyoma Leiomyoma Pubtator 35715314 Associate
★☆☆☆☆
Found in Text Mining only
Liver carcinoma Liver carcinoma CTD_human_DG 28284560
★☆☆☆☆
Found in Text Mining only