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Aliases for TAT Gene

Aliases for TAT Gene

  • Tyrosine Aminotransferase 2 3 5
  • EC 4 56
  • L-Tyrosine:2-Oxoglutarate Aminotransferase 4

External Ids for TAT Gene

Previous GeneCards Identifiers for TAT Gene

  • GC16M062492
  • GC16M072323
  • GC16M071336
  • GC16M071376
  • GC16M070158
  • GC16M071599
  • GC16M057368

Summaries for TAT Gene

Entrez Gene Summary for TAT Gene

  • This nuclear gene encodes a mitochondrial protein tyrosine aminotransferase which is present in the liver and catalyzes the conversion of L-tyrosine into p-hydroxyphenylpyruvate. Mutations in this gene cause tyrosinemia (type II, Richner-Hanhart syndrome), a disorder accompanied by major skin and corneal lesions, with possible cognitive disability. A regulator gene for tyrosine aminotransferase is X-linked. [provided by RefSeq, Jul 2008]

GeneCards Summary for TAT Gene

TAT (Tyrosine Aminotransferase) is a Protein Coding gene. Diseases associated with TAT include Tyrosinemia, Type Ii and Tyrosinemia. Among its related pathways are Phenylalanine metabolism and Viral mRNA Translation. Gene Ontology (GO) annotations related to this gene include pyridoxal phosphate binding and amino acid binding. An important paralog of this gene is KYAT3.

UniProtKB/Swiss-Prot for TAT Gene

  • Transaminase involved in tyrosine breakdown. Converts tyrosine to p-hydroxyphenylpyruvate. Can catalyze the reverse reaction, using glutamic acid, with 2-oxoglutarate as cosubstrate (in vitro). Has much lower affinity and transaminase activity towards phenylalanine.

Additional gene information for TAT Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TAT Gene

Genomics for TAT Gene

GeneHancer (GH) Regulatory Elements for TAT Gene

Promoters and enhancers for TAT Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16I071577 Promoter 0.9 EPDnew 550.8 +0.0 18 0.1 JUND RXRA TAF1 MAX HNF4A REST RAD21 YY1 TAT MARVELD3 TAT-AS1 ZNF19
GH16I071625 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 10.7 -50.3 -50326 3.7 ZFP64 ARID4B SIN3A DMAP1 ZNF2 SLC30A9 ELK1 SP3 SP5 KAT8 MARVELD3 ENSG00000260593 PHLPP2 RNU6-208P TAT SNORA70D HPR LOC105371336
GH16I071721 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 7 -146.0 -145962 3 HDGF PKNOX1 CLOCK ZFP64 ARID4B NEUROD1 SIN3A DMAP1 YBX1 ZNF2 PHLPP2 ENSG00000261513 DHX38 AP1G1 MARVELD3 IST1 TAT SNORA70D
GH16I071492 Enhancer 0.8 ENCODE 9.8 +84.9 84897 0.2 HDAC1 PKNOX1 ATF1 ARNT ZBTB40 CHAMP1 NCOA2 TCF12 ZBTB2 ZBTB11 ZNF23 ENSG00000247324 CALB2 TAT ENSG00000261611 LOC105371335 ZNF19
GH16I071669 Enhancer 0.8 ENCODE 9.5 -93.4 -93393 2 ELF3 FOXA2 ARID4B RAD21 ETS1 ATF7 CREM CEBPZ RXRA ZHX2 PHLPP2 DHX38 ATXN1L SNORA70D TAT HPR RNU6-208P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TAT on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TAT gene promoter:

Genomic Locations for TAT Gene

Genomic Locations for TAT Gene
11,471 bases
Minus strand

Genomic View for TAT Gene

Genes around TAT on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for TAT Gene

Proteins for TAT Gene

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

    Protein Symbol:
    Recommended name:
    Tyrosine aminotransferase
    Protein Accession:
    Secondary Accessions:
    • B2R8I1
    • D3DWS2

    Protein attributes for TAT Gene

    454 amino acids
    Molecular mass:
    50399 Da
    Name=pyridoxal 5-phosphate; Xref=ChEBI:CHEBI:597326;
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for TAT Gene

neXtProt entry for TAT Gene

Selected DME Specific Peptides for TAT Gene


Post-translational modifications for TAT Gene

No Post-translational modifications

Other Protein References for TAT Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for TAT Gene

Gene Families for TAT Gene

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

Suggested Antigen Peptide Sequences for TAT Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the class-I pyridoxal-phosphate-dependent aminotransferase family.
  • Belongs to the class-I pyridoxal-phosphate-dependent aminotransferase family.
genes like me logo Genes that share domains with TAT: view

Function for TAT Gene

Molecular function for TAT Gene

GENATLAS Biochemistry:
tyrosine aminotransferase,catalyzing the first step of tyrosine catabolism
UniProtKB/Swiss-Prot CatalyticActivity:
L-tyrosine + 2-oxoglutarate = 4-hydroxyphenylpyruvate + L-glutamate.
UniProtKB/Swiss-Prot Function:
Transaminase involved in tyrosine breakdown. Converts tyrosine to p-hydroxyphenylpyruvate. Can catalyze the reverse reaction, using glutamic acid, with 2-oxoglutarate as cosubstrate (in vitro). Has much lower affinity and transaminase activity towards phenylalanine.

Enzyme Numbers (IUBMB) for TAT Gene

Phenotypes From GWAS Catalog for TAT Gene

Gene Ontology (GO) - Molecular Function for TAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004838 L-tyrosine:2-oxoglutarate aminotransferase activity TAS --
GO:0005515 protein binding IPI 25910212
GO:0008483 transaminase activity IEA --
GO:0016597 amino acid binding IEA --
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with TAT: view
genes like me logo Genes that share phenotypes with TAT: view

Human Phenotype Ontology for TAT Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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

Localization for TAT Gene

Subcellular locations from

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 TAT gene
Compartment Confidence
cytosol 5
mitochondrion 3
nucleus 3
plasma membrane 2
cytoskeleton 2
lysosome 2
extracellular 1

Gene Ontology (GO) - Cellular Components for TAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005739 mitochondrion IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with TAT: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for TAT Gene

Pathways & Interactions for TAT Gene

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

UniProtKB/Swiss-Prot P17735-ATTY_HUMAN

  • Pathway: Amino-acid degradation; L-phenylalanine degradation; acetoacetate and fumarate from L-phenylalanine: step 2/6.

Gene Ontology (GO) - Biological Process for TAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006103 2-oxoglutarate metabolic process IEA,IDA 7999802
GO:0006520 cellular amino acid metabolic process IEA --
GO:0006536 glutamate metabolic process IDA,IEA 7999802
GO:0006559 L-phenylalanine catabolic process TAS --
GO:0006572 tyrosine catabolic process IDA,IEA 7999802
genes like me logo Genes that share ontologies with TAT: view

No data available for SIGNOR curated interactions for TAT Gene

Drugs & Compounds for TAT Gene

(67) Drugs for TAT Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glutamic Acid Approved Nutra Full agonist, Agonist, Target 251
L-Phenylalanine Approved, Investigational Nutra Target 0
L-Tyrosine Approved, Investigational Nutra Target 0
Pyridoxal Phosphate Approved, Investigational Nutra Target, cofactor 17
Famotidine Approved Pharma Histamine H2-receptor antagonist 64

(47) Additional Compounds for TAT Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
2-Oxo-4-methylthiobutanoic acid
  • 2-Keto-4-methylthiobutyrate
  • 2-Keto-4-methylthiobutyric acid
  • 2-Ketomethiobutyrate
  • 2-Oxo-4-methylthiobutanoate
  • 2-Oxo-4-methylthiobutanoic acid
4-Hydroxyphenylpyruvic acid
  • (p-hydroxyphenyl)-Pyruvate
  • (p-hydroxyphenyl)-Pyruvic acid
  • (p-Hydroxyphenyl)pyruvate
  • (p-Hydroxyphenyl)pyruvic acid
  • 3-(4-Hydroxyphenyl)-2-oxo-propanoate
  • (2S)-2-amino-4-(methylsulfanyl)butanoate
  • (2S)-2-amino-4-(methylsulfanyl)butanoic acid
  • (L)-methionine
  • (S)-(+)-methionine
  • (S)-2-amino-4-(methylthio)-Butanoate
Oxoglutaric acid
  • 2-Ketoglutarate
  • 2-Ketoglutaric acid
  • 2-Oxo-1,5-pentanedioate
  • 2-Oxo-1,5-pentanedioic acid
  • 2-Oxoglutarate
genes like me logo Genes that share compounds with TAT: view

Transcripts for TAT Gene

Unigene Clusters for TAT Gene

Tyrosine aminotransferase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12a · 12b
SP1: - -
SP2: - -

Relevant External Links for TAT Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for TAT Gene

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

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

This gene is overexpressed in Liver (x51.1).

Protein differential expression in normal tissues from HIPED for TAT Gene

This gene is overexpressed in Liver (69.0).

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

Protein tissue co-expression partners for TAT Gene

NURSA nuclear receptor signaling pathways regulating expression of TAT Gene:


SOURCE GeneReport for Unigene cluster for TAT Gene:


Evidence on tissue expression from TISSUES for TAT Gene

  • Liver(4.9)
  • Kidney(3.7)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • immune
  • integumentary
  • nervous
  • urinary
Head and neck:
  • brain
  • eye
  • head
  • kidney
  • ankle
  • digit
  • foot
  • hand
  • knee
  • lower limb
  • upper limb
  • blood
  • skin
  • sweat gland
  • white blood cell
genes like me logo Genes that share expression patterns with TAT: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for TAT Gene

Orthologs for TAT Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TAT Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia TAT 33 34
  • 99.49 (n)
(Canis familiaris)
Mammalia TAT 33 34
  • 90.6 (n)
(Bos Taurus)
Mammalia TAT 33 34
  • 90.16 (n)
(Monodelphis domestica)
Mammalia TAT 34
  • 90 (a)
(Rattus norvegicus)
Mammalia Tat 33
  • 87.15 (n)
(Mus musculus)
Mammalia Tat 33 16 34
  • 86.2 (n)
(Ornithorhynchus anatinus)
Mammalia TAT 34
  • 72 (a)
(Gallus gallus)
Aves TAT 33 34
  • 76.28 (n)
(Anolis carolinensis)
Reptilia TAT 34
  • 78 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia tat 33
  • 70.13 (n)
Str.15963 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.32186 33
(Danio rerio)
Actinopterygii tat 33 34
  • 68.05 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7145 33
fruit fly
(Drosophila melanogaster)
Insecta CG1461 35 33 34
  • 57.13 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000327 33
  • 57.08 (n)
(Caenorhabditis elegans)
Secernentea tatn-1 33 34
  • 51.21 (n)
F42D1.2 35
  • 44 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BNA3 34
  • 20 (a)
HIS5 36
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G36160 33
  • 47.86 (n)
(Oryza sativa)
Liliopsida Os02g0302700 33
  • 47.04 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 57 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.10155 33
Species where no ortholog for TAT was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • 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)
  • 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 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TAT Gene

Gene Tree for TAT (if available)
Gene Tree for TAT (if available)

Paralogs for TAT Gene

Paralogs for TAT Gene

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

Variants for TAT Gene

Sequence variations from dbSNP and Humsavar for TAT Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs1046394125 uncertain-significance, Hypertyrosinemia 71,568,063(-) C/T 3_prime_UTR_variant
rs112731997 uncertain-significance, Hypertyrosinemia 71,566,868(-) AAAAAAAAAAAAA/AAAAAAAAAAAA/AAAAAAAAAAAAAA 3_prime_UTR_variant
rs117706276 likely-benign, Hypertyrosinemia 71,577,109(-) C/A upstream_transcript_variant
rs118086978 uncertain-significance, Hypertyrosinemia 71,567,462(-) A/G 3_prime_UTR_variant
rs118203914 pathogenic, Tyrosinemia type 2 71,576,247(-) G/A coding_sequence_variant, stop_gained

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

Variant ID Type Subtype PubMed ID
nsv7285 OTHER inversion 18451855

Variation tolerance for TAT Gene

Residual Variation Intolerance Score: 26.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.19; 69.71% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TAT Gene

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

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

Disorders for TAT Gene

MalaCards: The human disease database

(11) MalaCards diseases for TAT Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
tyrosinemia, type ii
  • tyrsn2
  • hereditary tyrosinemia
hanhart syndrome
  • aglossia adactylia
small cell sarcoma
  • sarcoma, small cell
- elite association - COSMIC cancer census association via MalaCards
Search TAT in MalaCards View complete list of genes associated with diseases


  • Tyrosinemia 2 (TYRSN2) [MIM:276600]: An inborn error of metabolism characterized by elevations of tyrosine in the blood and urine, and oculocutaneous manifestations. Typical features include palmoplantar keratosis, painful corneal ulcers, and mental retardation. {ECO:0000269 PubMed:1357662}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for TAT Gene

tyrosinemia II,oculocutaneous,Richner-Hanhart syndrome,with palmoplantar keratoderma (hyperkeratosis),ectodermal dysplasia and corneal dystrophy

Additional Disease Information for TAT

genes like me logo Genes that share disorders with TAT: view

Publications for TAT Gene

  1. Cloning and expression of human tyrosine aminotransferase cDNA. (PMID: 7999802) Séralini GE … Labrie F (Biochimica et biophysica acta 1995) 3 4 22 58
  2. [Nucleotide sequence of the human tyrosine aminotransferase gene]. (PMID: 7908801) Zelenin SM … Mertvetsov NP (Bioorganicheskaia khimiia 1994) 3 4 22 58
  3. Point mutations in the tyrosine aminotransferase gene in tyrosinemia type II. (PMID: 1357662) Natt E … Scherer G (Proceedings of the National Academy of Sciences of the United States of America 1992) 3 4 22 58
  4. Isolation and characterization of the human tyrosine aminotransferase gene. (PMID: 1973834) Rettenmeier R … Scherer G (Nucleic acids research 1990) 3 4 22 58
  5. Genome-wide association study identifies multiple loci influencing human serum metabolite levels. (PMID: 22286219) Kettunen J … Ripatti S (Nature genetics 2012) 3 44 58

Products for TAT Gene

Sources for TAT Gene

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