Harmonizome 3.0

catalase

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 to water and oxygen and thereby mitigates the toxic effects of hydrogen peroxide. Oxidative stress is hypothesized to play a role in the development of many chronic or late-onset diseases such as diabetes, asthma, Alzheimer's disease, systemic lupus erythematosus, rheumatoid arthritis, and cancers. Polymorphisms in this gene have been associated with decreases in catalase activity but, to date, acatalasemia is the only disease known to be caused by this gene. [provided by RefSeq, Oct 2009]

transfer RNA-Met (CAT) 2-1

transfer RNA-Met (CAT) 3-2

transfer RNA-Met (CAT) 3-1

transfer RNA-Met (CAT) 6-1

cat eye syndrome chromosome region, candidate 5

Predicted to be involved in glycerophospholipid biosynthetic process. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

cat eye syndrome chromosome region, candidate 9 (non-protein coding)

Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Mar 2025]

cat eye syndrome chromosome region, candidate 1

This gene encodes a member of a subfamily of the adenosine deaminase protein family. The encoded protein is one of two adenosine deaminases found in humans, which regulate levels of the signaling molecule, adenosine. The encoded protein is secreted from monocytes undergoing differentiation and may regulate cell proliferation and differentiation. This gene may be responsible for some of the phenotypic features associated with cat eye syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

cat eye syndrome chromosome region, candidate 2

This gene encodes a bromodomain-containing protein that is involved in chromatin remodeling, and may additionally play a role in DNA damage response. The encoded protein functions as part of an ATP-dependent complex that is involved in neurulation. This gene is a candidate gene for Cat Eye Syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]

cat eye syndrome chromosome region, candidate 3 (non-protein coding)

cat eye syndrome chromosome region, candidate 6

transfer RNA-iMet (CAT) 3-1

transfer RNA-iMet (CAT) 2-1

Santos and Zasloff (1981) [PubMed 6261953] identified 12 initiator methionine tRNA genes, symbolized tRNA-i(met), in the haploid human genome. Zasloff et al. (1982) [PubMed 6923137] found a variant tRNA-i(met) with a G-to-T transversion in the highly conserved TCGA sequence in loop 4, a sequence position occupied exclusively by a purine (usually G) in almost 200 prokaryotic and eukaryotic tRNAs. One functional consequence of this base substitution is reduction in the rate of processing of the primary transcript of the gene. A second, demonstrated by microinjection into the germinal vesicle of the intact Xenopus laevis oocyte, is blockage of egress from the nucleus. It has been estimated that the human haploid genome contains 1,000 to 2,000 tRNA genes and that there are 50 to 60 chromatographically distinct tRNA species. These observations suggest redundancy of some tRNA genes. The studies of initiator methionine tRNA genes bear out this suspicion.[supplied by OMIM, Sep 2009]

transfer RNA-Met (CAT) 4-1

transfer RNA-Met (CAT) 4-3

transfer RNA-Met (CAT) 4-2

transfer RNA-Met (CAT) 1-1

transfer RNA-Met (CAT) 5-1

cat eye syndrome chromosome region, candidate 7 (non-protein coding)

cat eye syndrome chromosome region

Cat eye syndrome (CES) is characterized clinically by the combination of coloboma of the iris and anal atresia with fistula, downslanting palpebral fissures, preauricular tags and/or pits, frequent occurrence of heart and renal malformations, and normal or near-normal mental development. A small supernumerary chromosome (smaller than chromosome 21) is present, frequently has 2 centromeres, is bisatellited, and represents an inv dup(22)(q11).[supplied by OMIM, Aug 2009]

transfer RNA-Met (CAT) 7-1

transfer RNA-iMet (CAT) 1-8

transfer RNA-iMet (CAT) 1-3

transfer RNA-iMet (CAT) 1-2

transfer RNA-iMet (CAT) 1-1

transfer RNA-iMet (CAT) 1-7

transfer RNA-iMet (CAT) 1-6

transfer RNA-iMet (CAT) 1-5

transfer RNA-iMet (CAT) 1-4

From DrugBank Drug Targets

interacting proteins for the CAT-213 drug from the curated DrugBank Drug Targets dataset.

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease cat-scratch disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term cat in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cat eye syndrome critical region protein 6 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cat eye syndrome critical region protein 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cat eye syndrome critical region protein 5 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From OMIM Gene-Disease Associations

genes associated with the cat eye syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

From Pathway Commons Protein-Protein Interactions

interacting proteins for CAT from the Pathway Commons Protein-Protein Interactions dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Cat Eye Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Cat-Scratch Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From GO Biological Process Annotations 2023

genes participating in the CAT tailing biological process from the curated GO Biological Process Annotations 2023 dataset.

From LINCS L1000 CMAP CRISPR Knockout Consensus Signatures

genes differentially expressed following the CAT gene perturbation from the LINCS L1000 CMAP CRISPR Knockout Consensus Signatures dataset.

From GO Biological Process Annotations 2025

genes participating in the CAT tailing biological process from the curated GO Biological Process Annotations 2025 dataset.

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease cat-scratch disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

From CM4AI KOLF21J CRISPRi Gene Perturbation Atlas

genes differentially expressed following the CAT gene perturbation from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas.