Gene Gene information from NCBI Gene database.
Entrez ID 5217
Gene name Profilin 2
Gene symbol PFN2
Synonyms (NCBI Gene)
D3S1319EPFL
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
miRNA miRNA information provided by mirtarbase database.
672
miRTarBase ID miRNA Experiments Reference
MIRT004062 hsa-miR-7-5p Microarray 19073608
MIRT004062 hsa-miR-7-5p Microarray;Other 19073608
MIRT029555 hsa-miR-26b-5p Microarray 19088304
MIRT048419 hsa-miR-100-5p CLASH 23622248
MIRT510985 hsa-miR-19a-3p PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
35
GO ID Ontology Definition Evidence Reference
GO:0003779 Function Actin binding IBA
GO:0003779 Function Actin binding IEA
GO:0003785 Function Actin monomer binding IPI 7758455
GO:0005515 Function Protein binding IPI 9822597, 15383276, 16169070, 32814053
GO:0005546 Function Phosphatidylinositol-4,5-bisphosphate binding IDA 7758455
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
176590 8882 ENSG00000070087
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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

Accession ID Position in sequence Description Type
PF00235 Profilin 2 140 Profilin Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in brain, skeletal muscle and kidney and less strongly in heart, placenta, lung and liver.
Sequence
Sequence length 140
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Rap1 signaling pathway
Regulation of actin cytoskeleton
Amyotrophic lateral sclerosis
Shigellosis
Salmonella infection
  Signaling by ROBO receptors
RHO GTPases Activate Formins
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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
OCULAR HYPOTENSION 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
Acute Megakaryocytic Leukemias Megakaryocytic Leukemia BEFREE 28546428
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 24920614
★☆☆☆☆
Found in Text Mining only
Anemia Anemia BEFREE 28774878
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 25454514, 30628646
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 23153535 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 36524514 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 26354229, 28405690
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 25032869
★☆☆☆☆
Found in Text Mining only
Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Disease BEFREE 29449460
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 30015842
★☆☆☆☆
Found in Text Mining only