Gene

FERMT3

Species
Homo sapiens
Symbol
FERMT3
Name
FERM domain containing kindlin 3
Synonyms
  • fermitin family homolog 3
  • fermitin family member 3
Biotype
protein coding gene
Automated Description
Enables lipid binding activity. Involved in several processes, including integrin activation; integrin-mediated signaling pathway; and substrate adhesion-dependent cell spreading. Located in extracellular exosome and membrane. Implicated in leukocyte adhesion deficiency 1 and leukocyte adhesion deficiency 3. Biomarker of acute myeloid leukemia.
RGD Description
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]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR16160
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Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
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Annotation details
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    Disease Associations

    Cases where the expected disease association was NOT found
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    Alleles and Variants

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      Transgenic Alleles

      Species
      (carrying the transgene)
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        Models

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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCh38
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          Data currently unavailable; sequence viewer under construction

          Sequence Details

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          Expression

          Primary Sources
          None
          Other Sources
          Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

          Molecular Interactions

          FERMT3 molecule type
          Interactor gene
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            Genetic Interactions

            FERMT3 role
            FERMT3 genetic perturbation
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