Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
847
Gene name Gene Name - the full gene name approved by the HGNC.
Catalase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CAT
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11p13
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
miRTarBase ID miRNA Experiments Reference
MIRT007067 hsa-miR-30b-5p Luciferase reporter assay, qRT-PCR, Western blot 22880027
MIRT007067 hsa-miR-30b-5p Luciferase reporter assay, qRT-PCR, Western 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 factor Regulation Reference
EGR3 Activation 1906159
ETV1 Unknown 19763505
NFE2L2 Activation 22493435
PPARD Activation 18048767
PPARG Unknown 20075562
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
115500 1516 ENSG00000121691
Protein
UniProt ID 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
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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
Acatalasia Acatalasemia, japanese type, acatalasia rs761650208, rs1590302115, rs2133181057 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
Diabetes Type 2 diabetes N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
AA amyloidosis Associate 23968537
Acatalasia Associate 14459853
Acute Kidney Injury Associate 26787049
Adenocarcinoma Associate 17409931
Adenocarcinoma of Lung Associate 32669531, 33299528, 36254009, 8332495
Adenomyosis Associate 12372460
AIDS Dementia Complex Associate 19101040
Alzheimer Disease Associate 18353692, 24817970, 30068908, 31370365, 37772794
Amyotrophic Lateral Sclerosis Associate 35627142
Amyotrophic lateral sclerosis 1 Associate 8731383