Gene Gene information from NCBI Gene database.
Entrez ID 84293
Gene name Peroxiredoxin like 2A
Gene symbol PRXL2A
Synonyms (NCBI Gene)
AdrxC10orf58FAM213APAMM
Chromosome 10
Chromosome location 10q23.1
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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GO ID Ontology Definition Evidence Reference
GO:0005576 Component Extracellular region IEA
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IDA 19951071
GO:0005737 Component Cytoplasm IEA
GO:0016209 Function Antioxidant activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
617165 28651 ENSG00000122378
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BRX8
Protein name Peroxiredoxin-like 2A (Peroxiredoxin-like 2 activated in M-CSF stimulated monocytes) (Protein PAMM) (Redox-regulatory protein FAM213A)
Protein function Involved in redox regulation of the cell (PubMed:19951071, PubMed:26438880). Acts as an antioxidant (PubMed:19951071, PubMed:26438880). Inhibits TNFSF11-induced NFKB1 and JUN activation and osteoclast differentiation (PubMed:19951071). May affec
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13911 AhpC-TSA_2 94 202 AhpC/TSA antioxidant enzyme Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in CSF1 and TNFSF11-stimulated CD14(+) peripheral blood mononuclear cells (PBMCs). {ECO:0000269|PubMed:19951071}.
Sequence
MSFLQDPSFFTMGMWSIGAGALGAAALALLLANTDVFLSKPQKAALEYLEDIDLKTLEKE
PRTFKAKELWEKNGAVIMAVRRPGCFLCREEAADLSSLKSMLDQLGVPLYAVVKEHIRTE
VKDFQPYFKGEIFLDEKKKFYGPQRRKMMFMGFIRLGVWYNFFRAWNGGFSGNLEGEGFI
LGGVFVVGSGKQGILLEHREKE
FGDKVNLLSVLEAAKMIKPQTLASEKK
Sequence length 229
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
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
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CATARACT GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GOUT GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HEART FAILURE 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
Disorder of macula of retina Disorder Of Macula Of Retina BEFREE 30257961
★☆☆☆☆
Found in Text Mining only
Head and Neck Carcinoma Head And Neck Carcinoma BEFREE 27221705
★☆☆☆☆
Found in Text Mining only
Leukemia, Myelocytic, Acute Leukemia GWASCAT_DG 27903959
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 27221705
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 27221705
★☆☆☆☆
Found in Text Mining only