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The product of this gene belongs to the profilin family of proteins. This protein binds to actin and affects the structure of the cytoskeleton. It also may be involved in spermatogenesis. It is a single exon gene. [provided by RefSeq, Jul 2008]
PFN3 (Profilin 3) is a Protein Coding gene. Diseases associated with PFN3 include Nephrolithiasis, Calcium Oxalate. Among its related pathways are Shigellosis and Association Between Physico-Chemical Features and Toxicity Associated Pathways. Gene Ontology (GO) annotations related to this gene include actin binding and lipid binding. An important paralog of this gene is PFN1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003779 | actin binding | IBA | 21873635 |
GO:0008289 | lipid binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA | -- |
GO:0005737 | cytoplasm | IBA | 21873635 |
GO:0005856 | cytoskeleton | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Ras signaling pathway | ||
2 | Regulation of actin cytoskeleton | ||
3 | Salmonella infection (KEGG) | ||
4 | Shigellosis | ||
5 | Association Between Physico-Chemical Features and Toxicity Associated Pathways |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0030036 | actin cytoskeleton organization | IEA | -- |
GO:0030833 | regulation of actin filament polymerization | IBA | 21873635 |
GO:0032233 | positive regulation of actin filament bundle assembly | IBA | 21873635 |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | PFN3 32 |
|
||
cow (Bos Taurus) |
Mammalia | PFN3 33 32 |
|
OneToOne | |
mouse (Mus musculus) |
Mammalia | Pfn3 17 33 32 |
|
||
rat (Rattus norvegicus) |
Mammalia | Pfn3 32 |
|
||
dog (Canis familiaris) |
Mammalia | PFN3 33 32 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | PFN3 33 32 |
|
OneToOne | |
lizard (Anolis carolinensis) |
Reptilia | PFN3 33 |
|
OneToOne | |
zebrafish (Danio rerio) |
Actinopterygii | pfn1 33 |
|
ManyToMany |
SNP ID | Clin | Chr 05 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs199988476 | pathogenic, likely-benign, likely-pathogenic, Factor XII deficiency disease, Hypophosphatemic Nephrolithiasis/Osteoporosis, F12-Related Disorders | 177,402,460(-) | C/A/G/T | upstream_transcript_variant | |
rs1000253382 | -- | 177,402,599(-) | G/A | upstream_transcript_variant | |
rs1001326017 | -- | 177,401,256(-) | G/T | upstream_transcript_variant | |
rs1001479722 | -- | 177,401,482(-) | T/C | upstream_transcript_variant | |
rs1002201363 | -- | 177,401,109(-) | A/T | upstream_transcript_variant |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv10184n54 | CNV | loss | 21841781 |
dgv10185n54 | CNV | loss | 21841781 |
dgv733n27 | CNV | loss | 19166990 |
nsv1161311 | CNV | duplication | 26073780 |
nsv1161312 | CNV | deletion | 26073780 |
nsv1161313 | CNV | duplication | 26073780 |
nsv471057 | CNV | loss | 18288195 |
nsv509103 | CNV | insertion | 20534489 |
nsv600364 | CNV | loss | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
nephrolithiasis, calcium oxalate |
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