PFN2 (profilin 2)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 5217 |
| Gene name | Profilin 2 |
| Gene symbol | PFN2 |
| Synonyms (NCBI Gene) |
D3S1319EPFL
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| Chromosome | 3 |
| Chromosome location | 3q25.1 |
| Summary | The protein encoded by this gene is a ubiquitous actin monomer-binding protein belonging to the profilin family. It is thought to regulate actin polymerization in response to extracellular signals. There are two alternatively spliced transcript variants e |
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miRNA
miRNA information provided by mirtarbase database.
672
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
35
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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P35080 | ||||||||||
| Protein name | Profilin-2 (Profilin II) | ||||||||||
| Protein function | Binds to actin and affects the structure of the cytoskeleton. At high concentrations, profilin prevents the polymerization of actin, whereas it enhances it at low concentrations. By binding to PIP2, it inhibits the formation of IP3 and DG. | ||||||||||
| PDB | 1D1J | ||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Highly expressed in brain, skeletal muscle and kidney and less strongly in heart, placenta, lung and liver. | ||||||||||
| Sequence |
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| Sequence length | 140 | ||||||||||
| Interactions | View interactions | ||||||||||
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Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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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)
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