Gene Gene information from NCBI Gene database.
Entrez ID 847
Gene name Catalase
Gene symbol CAT
Synonyms (NCBI Gene)
-
Chromosome 11
Chromosome location 11p13
Summary This gene encodes catalase, a key antioxidant enzyme in the bodies defense against oxidative stress. Catalase is a heme enzyme that is present in the peroxisome of nearly all aerobic cells. Catalase converts the reactive oxygen species hydrogen peroxide t
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs761650208 G>A Pathogenic Intron variant
rs1590302115 T>- Pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
123
miRTarBase ID miRNA Experiments Reference
MIRT007067 hsa-miR-30b-5p Luciferase reporter assayqRT-PCRWestern blot 22880027
MIRT007067 hsa-miR-30b-5p Luciferase reporter assayqRT-PCRWestern blot 22880027
MIRT020866 hsa-miR-155-5p Proteomics 18668040
MIRT028614 hsa-miR-30a-5p Proteomics 18668040
MIRT047237 hsa-miR-181b-5p CLASH 23622248
Transcription factors Transcription factors information provided by TRRUST V2 database.
6
Transcription factor Regulation Reference
EGR3 Activation 1906159
ETV1 Unknown 19763505
NFE2L2 Activation 22493435
PPARD Activation 18048767
PPARG Unknown 20075562
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
80
GO ID Ontology Definition Evidence Reference
GO:0000302 Process Response to reactive oxygen species IEA
GO:0000302 Process Response to reactive oxygen species IMP 16644728
GO:0001649 Process Osteoblast differentiation HDA 16210410
GO:0001657 Process Ureteric bud development IEA
GO:0001666 Process Response to hypoxia IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
115500 1516 ENSG00000121691
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P04040
Protein name Catalase (EC 1.11.1.6)
Protein function Catalyzes the degradation of hydrogen peroxide (H(2)O(2)) generated by peroxisomal oxidases to water and oxygen, thereby protecting cells from the toxic effects of hydrogen peroxide (PubMed:7882369). Promotes growth of cells including T-cells, B
PDB 1DGB , 1DGF , 1DGG , 1DGH , 1F4J , 1QQW , 7P8W , 7VD9 , 8EL9 , 8HID , 8PVD , 8SGV , 8WZH , 8WZJ , 8WZK , 8WZM
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00199 Catalase 28 411 Catalase Domain
PF06628 Catalase-rel 434 497 Catalase-related immune-responsive Family
Sequence
Sequence length 527
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Tryptophan metabolism
Glyoxylate and dicarboxylate metabolism
Metabolic pathways
Carbon metabolism
FoxO signaling pathway
Peroxisome
Longevity regulating pathway
Longevity regulating pathway - multiple species
Amyotrophic lateral sclerosis
Pathways of neurodegeneration - multiple diseases
Chemical carcinogenesis - reactive oxygen species
  Detoxification of Reactive Oxygen Species
Neutrophil degranulation
Peroxisomal protein import
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
94
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Acatalasemia, japanese type Pathogenic rs761650208, rs1590302115 RCV000019165
RCV000022461
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Acatalasia Pathogenic rs2133181057 RCV000022462
★★★★☆
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
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANGLE CLOSURE GLAUCOMA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AORTIC DISEASES CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ARTHRITIS, EXPERIMENTAL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations