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Kindlins are a small family of proteins that mediate protein-protein interactions involved in integrin activation and thereby have a role in cell adhesion, migration, differentiation, and proliferation. The protein encoded by this gene has a key role in the regulation of hemostasis and thrombosis. This protein may also help maintain the membrane skeleton of erythrocytes. Mutations in this gene cause the autosomal recessive leukocyte adhesion deficiency syndrome-III (LAD-III). Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jan 2010]
FERMT3 (Fermitin Family Member 3) is a Protein Coding gene. Diseases associated with FERMT3 include Leukocyte Adhesion Deficiency, Type Iii and Leukocyte Adhesion Deficiency, Type I. Among its related pathways are Response to elevated platelet cytosolic Ca2+ and Adhesion. Gene Ontology (GO) annotations related to this gene include integrin binding. An important paralog of this gene is FERMT1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005178 | integrin binding | IEA,ISS | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002102 | podosome | ISS | -- |
GO:0005576 | extracellular region | TAS | -- |
GO:0016020 | membrane | HDA | 19946888 |
GO:0030054 | cell junction | IEA | -- |
GO:0030055 | cell-substrate junction | IBA | 21873635 |
SuperPathway | Contained pathways | ||
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1 | Response to elevated platelet cytosolic Ca2+ |
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2 | Adhesion |
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3 | Platelet activation |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002576 | platelet degranulation | TAS | -- |
GO:0007155 | cell adhesion | IEA | -- |
GO:0007159 | leukocyte cell-cell adhesion | IEA,IMP | 19234460 |
GO:0007160 | cell-matrix adhesion | IBA | 21873635 |
GO:0007229 | integrin-mediated signaling pathway | IEA,IMP | 19234460 |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7a | · | 7b | ^ | 8a | · | 8b | ^ | 9a | · | 9b | ^ | 10 | ^ | 11a | · | 11b | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 |
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SP1: | - | ||||||||||||||||||||||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||||||||||||||||||||||
SP3: | - | ||||||||||||||||||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||||||||||||||||
SP5: | - | ||||||||||||||||||||||||||||||||||||||||||
SP6: | |||||||||||||||||||||||||||||||||||||||||||
SP7: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | FERMT3 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | FERMT3 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | FERMT3 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | FERMT3 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Fermt3 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Fermt3 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
ManyToMany | |
Lizard (Anolis carolinensis) |
Reptilia | FERMT3 31 |
|
OneToOne | |
African clawed frog (Xenopus laevis) |
Amphibia | MGC69069 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | fermt3b 30 31 |
|
OneToMany | |
FERMT3 (2 of 2) 31 |
|
OneToMany | |||
zgc64101 30 |
|
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Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.9754 30 |
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||
Fruit Fly (Drosophila melanogaster) |
Insecta | Fit1 31 |
|
ManyToMany | |
Fit2 31 |
|
ManyToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | unc-112 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
643214 | Uncertain Significance: Leukocyte adhesion deficiency, type III | 64,207,405(+) | C/G | MISSENSE_VARIANT | |
643472 | Pathogenic: Leukocyte adhesion deficiency, type III | 64,211,423(+) | CAA/C | FRAMESHIFT_VARIANT | |
643951 | Uncertain Significance: Leukocyte adhesion deficiency, type III | 64,221,126(+) | CTA/C | FRAMESHIFT_VARIANT | |
645185 | Uncertain Significance: Leukocyte adhesion deficiency, type III | 64,220,596(+) | A/C | MISSENSE_VARIANT | |
646303 | Uncertain Significance: Leukocyte adhesion deficiency, type III | 64,219,530(+) | A/G | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
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leukocyte adhesion deficiency, type iii |
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leukocyte adhesion deficiency, type i |
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kindler syndrome |
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bleeding disorder, platelet-type, 18 |
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combined t cell and b cell immunodeficiency |
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