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FERMT2 (Fermitin Family Member 2) is a Protein Coding gene. Diseases associated with FERMT2 include Kindler Syndrome and Leukocyte Adhesion Deficiency, Type I. Among its related pathways are Cell junction organization and ERK Signaling. Gene Ontology (GO) annotations related to this gene include phosphatidylinositol-3,4,5-trisphosphate binding. An important paralog of this gene is FERMT1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003779 | actin binding | IMP | 29496737 |
GO:0005178 | integrin binding | IBA | 21873635 |
GO:0005515 | protein binding | IPI | 22699938 |
GO:0005547 | phosphatidylinositol-3,4,5-trisphosphate binding | IDA | 21325030 |
GO:0008289 | lipid binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001725 | stress fiber | IEA | -- |
GO:0005634 | nucleus | IEA,IDA | 22699938 |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005737 | cytoplasm | IEA,IDA | 18528435 |
GO:0005829 | cytosol | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Cell junction organization | ||
2 | Adhesion |
-
|
|
3 | Cytoskeletal Signaling | ||
4 | Actin Dynamics Signaling Pathway | ||
5 | Autophagy Pathway |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007155 | cell adhesion | IMP | 30382829 |
GO:0007160 | cell-matrix adhesion | IEA,ISS | -- |
GO:0007179 | transforming growth factor beta receptor signaling pathway | IMP | 21325030 |
GO:0007229 | integrin-mediated signaling pathway | IMP | 21325030 |
GO:0008360 | regulation of cell shape | IEA | -- |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | FERMT2 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | FERMT2 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | FERMT2 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | FERMT2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | FERMT2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Fermt2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Fermt2 30 |
|
||
Chicken (Gallus gallus) |
Aves | FERMT2 31 |
|
OneToOne | |
PLEKHC1 30 |
|
||||
Lizard (Anolis carolinensis) |
Reptilia | FERMT2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | fermt2 30 |
|
||
Str.10934 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.3392 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | fermt2 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | Fit1 30 31 |
|
ManyToMany | |
Fit2 31 |
|
ManyToMany | |||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP002054 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | unc-112 30 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3551569 | CNV | deletion | 23714750 |
esv3892546 | CNV | gain | 25118596 |
nsv1050582 | CNV | gain | 25217958 |
nsv820177 | CNV | loss | 19587683 |
nsv832796 | CNV | loss | 17160897 |
nsv832797 | CNV | gain | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
kindler syndrome |
|
|
leukocyte adhesion deficiency, type i |
|
|
leukocyte adhesion deficiency, type iii |
|
|
combined immunodeficiency |
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|